I called Livia today at CHOP and she thought dermatology already called us. We are keeping our original appointment with dermatology on May 29th to do the biopsies for Mark, myself, Nathan and Bennett. Boston could not take them until the middle of May at that time Dr. Yan is away so we are sticking with May 29th. I am happy they are taking Bennett's too. I'm not sure why they are doing biopsies for us. I forgot to ask that on when I was on the telephone. Nephrology was also supposed to call us with an appointment. Livia said she would check on that for us.
I still have alot of scheduling to do and phone calls to make. I need to be better organized because I scheduled several appointments on the same days which makes more work for myself. I had to reschedule Bennett's Early Intervention eval from 5/5 to 5/19 because Libby has her 6 yr check with Dr. Lockman at the same time. I felt guilty rescheduling Libby when it's already two months past her birthday. It will be nice to take a healthy child to the doctor!
I am continuing to pray that Boston is the miracle we were hoping for. Can you imagine if both boys would put on some weight??!!
4.29.2009
4.28.2009
worried about Libby
I've been thinking alot about Libby and how much all of this will impact her both now and in the future. At what age to we broach the subject with her that this disorder will most likely result in premature death. I think I am fooling myself by thinking that we have protected her from it so far. She has to feel that most of our energy has been going to Nathan and Bennett, getting them to eat, worrying about them, emergency appts etc. Not that she is neglected. We give her so much love and attention, but she has to feel the stress of the family. I worry about what her experience will be when she has to answer questions about her brothers appearances. I worry about the immediate future, if Nathan needs a feeding tube, going to the hospital for the surgery and all the maintenance that involves. Then if we do go to Boston, how will she feel knowing that our whole family is rearranging our lives for her younger brothers, that our world revolves around getting them medical attention. I feel bad that she got "stuck" in this situation with us. Even though I know we are good parents to her, I still feel like she got a bad deal. How will it be for her if/when she loses her brother or brothers...
I'm discouraged today because Bennett has not been eating well for me the past two days. He has only been eating 2-3 ounces at a time. He does not appear to be uncomfortable as he is just smiling instead of eating. It feels like Nathan all over again. I just weighed him and he gained only 6 ounces in almost two weeks. He is 10 pounds 8 ounces which is not so good. I guess maybe Nathan's appetite is limited because of the disorder. What if we have two kids with feeding tubes?
No word from CHOP. It has been two weeks since our appointment and I just want to get something done, head to Boston or something. I'm trying to be patient because I know we are not Livia's only patients.
On Saturday I wrote a happy little blurb which I know is rare for me. I will try to do that more frequently. Please know that when I don't blog, I am usually having a good couple of days. I feel much better when I am upset and can express my feelings on here.
I'm discouraged today because Bennett has not been eating well for me the past two days. He has only been eating 2-3 ounces at a time. He does not appear to be uncomfortable as he is just smiling instead of eating. It feels like Nathan all over again. I just weighed him and he gained only 6 ounces in almost two weeks. He is 10 pounds 8 ounces which is not so good. I guess maybe Nathan's appetite is limited because of the disorder. What if we have two kids with feeding tubes?
No word from CHOP. It has been two weeks since our appointment and I just want to get something done, head to Boston or something. I'm trying to be patient because I know we are not Livia's only patients.
On Saturday I wrote a happy little blurb which I know is rare for me. I will try to do that more frequently. Please know that when I don't blog, I am usually having a good couple of days. I feel much better when I am upset and can express my feelings on here.
4.25.2009
Great Day
We had a great day today! We had Libby's first T-ball game this morning, then came home and had lunch with Mee Maw and Pop Pop Falcone. We have three baby birds (wrens I think) in the nest on our porch and the mama bird was bringing back food for them. The kids were really excited. In the afternoon Libby and Nathan got in their swimsuits and played in the sprinkler. We had dinner and then walked to Esposito's for water ice! Mark pulled the big kids in the wagon and I pushed Bennett in the stroller. Libby ran most of the way home, which was pretty far. (This is the girl that doesn't want to play soccer again because it is too much running). They will sleep good tonight! I love family things like this and pretending things are normal. I enjoy having kids and love this stage of my life minus the obvious. Nathan is getting around much better this summer, still stiff and still doesn't have the reflexes to catch himself if he falls but more stable. I lowered the swing and he is trying to swing the right way now instead of hanging on his belly. I've also been trying to send him on little errands just to challenge him. Libby is so independent and it makes it hard because we make her go up and get her pjs on etc. Nathan is nowhere near going up and down the steps but he can do other things for himself. We just need to stop "enabling" him.
There was another younger sibling at the T-ball game who turns 4 in August as well. His mom said he will be playing T-ball next summer. I wonder if we could get Nathan there in two years, next year is too soon but maybe just maybe it might be a sport he could play. Perhaps these clinical trial medications will allow him to put a little bit of weight on and loosen up his joints so that would be possible. Even if it doesn't extend he and Bennett's lifespans by much, at least maybe they could do more typical things while they are here.
There was another younger sibling at the T-ball game who turns 4 in August as well. His mom said he will be playing T-ball next summer. I wonder if we could get Nathan there in two years, next year is too soon but maybe just maybe it might be a sport he could play. Perhaps these clinical trial medications will allow him to put a little bit of weight on and loosen up his joints so that would be possible. Even if it doesn't extend he and Bennett's lifespans by much, at least maybe they could do more typical things while they are here.
Boston
On Thursday, Mark came home from work with a small yellow post-it note with tiny pencil scratches. It was his notes from his conversation with Livia. From what I can gather, she is pushing to have Nephrology (kidney) schedule Nathan. I didn't even know there was a specialist we are not already seeing. She is also trying to move our appointment with Dr. Yan to some time earlier than May 29th so that he can do the skin biopsy. She is waiting to hear back from Boston via email if Bennett will have a biopsy done too as well as Mark and me. She also asked permission to send the boys pictures to Boston. She said that Boston is just really busy which is the reason for the delay. It feels to me as if everything is moving at a snail's pace, but I realize we are not the only ones being treated. It just feels like every day we are losing ground on this progression.
I continue to be very sad as it settles in that this is really the original diagnosis only with a slower progression and now with two kids. It seems so strange that we are fighting to get them big and strong and their bodies are caught in limbo. The same themes I have written about ad nauseam on this blog continue to run through my head. Bennett is a beautiful little baby and I can't believe he is going to change and look like Nathan. Yesterday I took Nathan (& Bennett) to McDonald's and people really stared at Nathan. I wasn't that upset. I thought it was very rude, but I know who he is so it didn't make me sad like I thought it would. It's also hard for me when strangers fuss over Bennett, not knowing that he has this premature aging disorder. If he were a healthy baby I would be saying thank you and soaking it all in but instead I want to yell, "He is not going to stay this way!!"
I am so sad about all that is lost. I am worried that the future will bring hours at doctor appointments for the boys and eventually heartache for us. It seems unfathomable that we are nurturing and loving these little guys and slowly they will leave us. I feel so guilty that I can't be more positive. The websites for the kids with classic progeria are so cheery and upbeat. I know it is said that happiness is a choice, but I am having an impossible time choosing that when two of my children are facing such a grim future. My heart aches for them to fill out, be able to move freely, play sports and look like all the little boys I see everywhere.
I continue to be very sad as it settles in that this is really the original diagnosis only with a slower progression and now with two kids. It seems so strange that we are fighting to get them big and strong and their bodies are caught in limbo. The same themes I have written about ad nauseam on this blog continue to run through my head. Bennett is a beautiful little baby and I can't believe he is going to change and look like Nathan. Yesterday I took Nathan (& Bennett) to McDonald's and people really stared at Nathan. I wasn't that upset. I thought it was very rude, but I know who he is so it didn't make me sad like I thought it would. It's also hard for me when strangers fuss over Bennett, not knowing that he has this premature aging disorder. If he were a healthy baby I would be saying thank you and soaking it all in but instead I want to yell, "He is not going to stay this way!!"
I am so sad about all that is lost. I am worried that the future will bring hours at doctor appointments for the boys and eventually heartache for us. It seems unfathomable that we are nurturing and loving these little guys and slowly they will leave us. I feel so guilty that I can't be more positive. The websites for the kids with classic progeria are so cheery and upbeat. I know it is said that happiness is a choice, but I am having an impossible time choosing that when two of my children are facing such a grim future. My heart aches for them to fill out, be able to move freely, play sports and look like all the little boys I see everywhere.
4.22.2009
No Call!
Well no surprise Livia did not call back tonight to give us the rest of the details. I've been scheduling some appointments for myself lately just to take care of me. Tomorrow it's the dentist. If they even start lecturing me about flossing I may lose it. Maybe I will preempt my cleaning with a full disclosure of our current situation. First though is volunteering at Libby's school which is fun but also challenging for me too because it starts my mind thinking about Nathan in kindergarten........I know, one day at a time!
Update
Mark finally (under duress from me) agreed we needed to page Livia. She was just going to call us tonight (eye roll). Boston has sent a kit to CHOP in order for CHOP genetics to do the biopsies and send them back to Boston. Boston is trying to fit us into their schedule. Livia was with a patient and couldn't talk long so she says she is calling back tonight. Questions we have for her are if both boys can participate or just Nathan. The information on their website states that patients have to be one year or older; however, that is in the clinical trials for kids with classic progeria. It pains me to think of waiting 8 more months to start some kind of treatment with Bennett but I'm sure there are valid reasons. I think they know what they are doing. The other question is that if the drugs don't improve the cells in the biopsies, are we then just done with that program. I am wondering if it is okay to get my hopes up about this. It feels so good to be doing something that could potentially change the course of this disorder. I am so hopeful but know I can't keep looking to the next thing for hope. I have to find contentment in the "right now."
Little boys have been making me especially sad lately. They are so cute and lets face it Nathan has a face only a mother (and father, family and friends) could love. He's not going to be in a print ad for Gymboree or on the front page of Parent magazine. I have a hard time with him not looking like a typical kid. But this is all stuff I have already droned on and on about on here. I will update if we get more information tonight.
Little boys have been making me especially sad lately. They are so cute and lets face it Nathan has a face only a mother (and father, family and friends) could love. He's not going to be in a print ad for Gymboree or on the front page of Parent magazine. I have a hard time with him not looking like a typical kid. But this is all stuff I have already droned on and on about on here. I will update if we get more information tonight.
Spreading the word
Well, yesterday I told several of our neighbors of the recent diagnosis for the boys. It is such a relief to get it out there, but uncomfortable during the process. I feel bad because people don't know what to say and feel awkward and frankly it really brings the mood down. So if you all know people that I know feel free to "gossip" and tell them what is going on. It prevents those awkward moments. Otherwise I may have to carry around preprinted notecards with the information and just hand them to people!
Still no word from Livia. Mark left another message yesterday. Last week I had suggested paging her and he didn't want to bother her. Today he has finally agreed that it is time to "bother" her so we will be paging her today. Sometimes she doesn't return our calls if she doesn't have information, but it would still be nice to know.
Still no word from Livia. Mark left another message yesterday. Last week I had suggested paging her and he didn't want to bother her. Today he has finally agreed that it is time to "bother" her so we will be paging her today. Sometimes she doesn't return our calls if she doesn't have information, but it would still be nice to know.
4.20.2009
Lifelong medical problems
The feeding clinic was pretty much of a repeat of when I took Nathan two years ago. First of all it is a feeding team so a bunch of people file in the room, all staring at you and acting interested. Even Mark agreed that it is very annoying and uncomfortable (thank you Mark). They interview you, then another set of people come in to do the same, dietitian, doctor, intern, occupational therapist......... Mark thought one of my snarky comments was a bit unnecessary. The one worker asked if anything we have tried at home has worked. I said no, if one of the techniques worked we wouldn't be here. Really I said it nicely! Then we sat Nathan down with the food we had brought and what did he do? He cleaned his plate!!! He ate 3 times as much as he eats at home because he had an audience. He is such a social kid and loves attention so he was just thrilled with the whole operation. This is the same thing he did two years ago. After they all see him and interview us and check him, they leave the room and discuss in order to come up with recommendations. Typically I believe they provide behavioral techniques for getting him to eat. They had no additional suggestions for us to use at home saying that all of the suggestions they would provide, we had already tried. So their recommendations are for an intensive 4 week behavioral feeding program for him; however, he is not "stable" enough to participate. When they weighed him, naked he weighed 22 pounds which is what he has weighed for a year. Yes, they made him walk all the way to the end of the hall to the "weigh station" in his pull-up and then had me take his pull-up off and the poor little guy stood on the scale naked. Then I carried him back down the hall because I couldn't bare to watch him walk down the hall again. He's only 3 but it was pretty humiliating. Anyway, surprise surprise I got sidetracked.
So they had three recommendations on their evaluation, a feeding tube, referral to the intensive feeding program after he puts on weight and the number for families with children with "lifelong medical issues." Wow!! That really hit me hard. Lifelong medical issues!! I have nothing else really to say about that except that it is unbelievable that we are a family with two children with medical issues that are not going away, no end or resolution in sight. A couple people have suggested that I write a book about my experiences (okay 2-3 people) but I don't have a happy ending yet. I don't know if there will ever be a day when I can look back on this time and feel relieved that I made it through. Hopefully so.
Mark is not ready to take the feeding tube step. I am ready. It is not something I want Nathan to have to endure, but to know that he is getting the nutrition he needs and to see him put on weight would make me so happy. Mark agreed to giving Nathan one month to put on some weight and then we would move to the feeding tube. What we will do differently during that month is offer Nathan only his favorite foods at mealtimes. We shall see!
I have also had many other people say that I am a very good mother and my kids are lucky to have me (ok again, it was maybe 3 people tops!) I don't feel like a good mother. I feel like a terrible mother because I am not happy with my kids exactly the way they are, like they have disappointed me in some way. I also feel guilty because if we had a guarantee of having a healthy baby, I would do it again just to have another chance of having a baby gain weight and accomplish all the developmental milestones appropriately. I almost wish Libby had joined our family last, what a relief she would be! I would never attempt to have another child for numerous reasons, 1. there is no guarantee of healthiness, 2. Mark is not on board, 3. 4 kids is too many for me 4. I'm old 5. We need to move on with our lives emotionally and financially and leave the baby chase behind and the biggest reason, 6. because I don't want my kids to feel like they are less than perfect; that we kept trying to get it right.
So they had three recommendations on their evaluation, a feeding tube, referral to the intensive feeding program after he puts on weight and the number for families with children with "lifelong medical issues." Wow!! That really hit me hard. Lifelong medical issues!! I have nothing else really to say about that except that it is unbelievable that we are a family with two children with medical issues that are not going away, no end or resolution in sight. A couple people have suggested that I write a book about my experiences (okay 2-3 people) but I don't have a happy ending yet. I don't know if there will ever be a day when I can look back on this time and feel relieved that I made it through. Hopefully so.
Mark is not ready to take the feeding tube step. I am ready. It is not something I want Nathan to have to endure, but to know that he is getting the nutrition he needs and to see him put on weight would make me so happy. Mark agreed to giving Nathan one month to put on some weight and then we would move to the feeding tube. What we will do differently during that month is offer Nathan only his favorite foods at mealtimes. We shall see!
I have also had many other people say that I am a very good mother and my kids are lucky to have me (ok again, it was maybe 3 people tops!) I don't feel like a good mother. I feel like a terrible mother because I am not happy with my kids exactly the way they are, like they have disappointed me in some way. I also feel guilty because if we had a guarantee of having a healthy baby, I would do it again just to have another chance of having a baby gain weight and accomplish all the developmental milestones appropriately. I almost wish Libby had joined our family last, what a relief she would be! I would never attempt to have another child for numerous reasons, 1. there is no guarantee of healthiness, 2. Mark is not on board, 3. 4 kids is too many for me 4. I'm old 5. We need to move on with our lives emotionally and financially and leave the baby chase behind and the biggest reason, 6. because I don't want my kids to feel like they are less than perfect; that we kept trying to get it right.
A Pretty Good Week (another long post)
Well despite our devastating news, it was a good week overall. I feel like finally having an answer to what is wrong with Nathan has given me some piece of mind. I don't know if this will make sense or not, but it has changed my perception of him. I now see him as a child with a medical issue more so than a special needs child or a child with developmental delays. Like I said I'm not sure if that makes sense.
I also have some thoughts on the way that everything unfolded. When we found out that Bennett was a boy I felt a sense of sadness because it was the first step in a repeat of Nathan. After the thought of having a boy sunk in, I thought maybe God was giving us a boy so that we could "heal" from the wounds of not having a rough and tumble boy. Then a week before I was admitted to the hospital, we went to the emergency room because I thought my water had broken (which I really think it had). On the way there we cried and cried at having this whole thing repeated over again, 'knowing' that it meant that Bennett would have the same thing as Nathan and we would be subjected to countless hours of doctor appts and therapies. When we got a "reprieve" that night and were sent home we were thrilled. It prepared us for the following horrible week when labor actually did begin and eventually Bennett was born. Anyway, what I am trying to say is that everything has happened so slowly, giving us time to process everything in our own time. Even this last week, we got the computer printout of the genetics results on Friday. It gave me time to look everything up and process the idea of a fatal disorder before being "officially" given the information. Each little step was a way of letting go a little bit more.
As I write this the doubts begin to creep in. How can you be happy about how things happened when it is so devastating? And I wonder if God can control how these events unfold and deliver them in a way that does not cause me to be put in a mental institution then why doesn't he just prevent them from happening or make them go away. I don't know the answer to that. Sometimes I also worry that if I am happy about these little things, does that mean I am accepting of the situation. If I am accepting of the situation does that mean it won't change? Does that mean I'm not fighting it and that I have given up? Again, these are just ramblings of a mad woman and I don't know if they make any sense to anyone out there.
About gratitude; (not sure what punctuation to use there) I am very thankful for all of the help that we have received. We have received meals from our church. My mom and sister spent a day preparing meals for our freezer and brought them down. My home church of Bellevue held a prayer service for us, sent an Easter box with lots of thoughtful gifts and has been sending cards (yes, the Thinking of You cards are right beside the Welcome Baby cards) My girlfriends have babysat and brought meals. The grandparents particularly have dropped everything to come and watch the kids for emergency and scheduled appointments. Overall it is difficult to accept the help. It is hard to know how to say thank you to all the people who inconvenience themselves to bring us a meal or watch our kids. It feels like we should be able to do this all ourselves. This week golf Mee Maw is watching Bennett twice for us and for some reason that makes me feel like we are failing. Anyway, all this to say that we really appreciate everyone being here for us. It feels so one sided, like people are giving and we can't reciprocate right now. I hope everyone knows how much we appreciate the support.
We are off to CHOP today to see the feeding team for Nathan. Mark is taking most of the day off from his second week on the job to be there with me so that we are on the same page with feeding techniques.
I also have some thoughts on the way that everything unfolded. When we found out that Bennett was a boy I felt a sense of sadness because it was the first step in a repeat of Nathan. After the thought of having a boy sunk in, I thought maybe God was giving us a boy so that we could "heal" from the wounds of not having a rough and tumble boy. Then a week before I was admitted to the hospital, we went to the emergency room because I thought my water had broken (which I really think it had). On the way there we cried and cried at having this whole thing repeated over again, 'knowing' that it meant that Bennett would have the same thing as Nathan and we would be subjected to countless hours of doctor appts and therapies. When we got a "reprieve" that night and were sent home we were thrilled. It prepared us for the following horrible week when labor actually did begin and eventually Bennett was born. Anyway, what I am trying to say is that everything has happened so slowly, giving us time to process everything in our own time. Even this last week, we got the computer printout of the genetics results on Friday. It gave me time to look everything up and process the idea of a fatal disorder before being "officially" given the information. Each little step was a way of letting go a little bit more.
As I write this the doubts begin to creep in. How can you be happy about how things happened when it is so devastating? And I wonder if God can control how these events unfold and deliver them in a way that does not cause me to be put in a mental institution then why doesn't he just prevent them from happening or make them go away. I don't know the answer to that. Sometimes I also worry that if I am happy about these little things, does that mean I am accepting of the situation. If I am accepting of the situation does that mean it won't change? Does that mean I'm not fighting it and that I have given up? Again, these are just ramblings of a mad woman and I don't know if they make any sense to anyone out there.
About gratitude; (not sure what punctuation to use there) I am very thankful for all of the help that we have received. We have received meals from our church. My mom and sister spent a day preparing meals for our freezer and brought them down. My home church of Bellevue held a prayer service for us, sent an Easter box with lots of thoughtful gifts and has been sending cards (yes, the Thinking of You cards are right beside the Welcome Baby cards) My girlfriends have babysat and brought meals. The grandparents particularly have dropped everything to come and watch the kids for emergency and scheduled appointments. Overall it is difficult to accept the help. It is hard to know how to say thank you to all the people who inconvenience themselves to bring us a meal or watch our kids. It feels like we should be able to do this all ourselves. This week golf Mee Maw is watching Bennett twice for us and for some reason that makes me feel like we are failing. Anyway, all this to say that we really appreciate everyone being here for us. It feels so one sided, like people are giving and we can't reciprocate right now. I hope everyone knows how much we appreciate the support.
We are off to CHOP today to see the feeding team for Nathan. Mark is taking most of the day off from his second week on the job to be there with me so that we are on the same page with feeding techniques.
4.17.2009
No Update
Still no word from Livia. Mark left two messages today. The excitement of the clinical trials is wearing off and I am still feeling the shock that my children have a fatal diagnosis. I just want to get started and find out if it will work. If it works, how much will it work-a couple more hairs, a couple more pounds, a couple more years is not what I am hoping for but that may be the best case scenario. Then I start to worry abuot how that will disrupt life for Libby and the guilt sets in.
No word from Livia
Yesterday I took Bennett in for his four month check-up which always seems silly because he is always seeing doctors. In an attempt at self-preservation I printed the blog entry from Tuesday evening and asked the front desk staff to give it to Dr. Lockman to read prior to seeing us. It did help alot because then he came in the room knowing what was going on. He spent alot of time with me talking about the diagnosis, our family and our options. (My apologies to the subsequent patients) He also said that personally he is very sad. Bennett weighed 10 pounds 2 ounces. He said his plagiocephaly is not too bad. It has improved a lot since we have been repositioning him. Basically he gave him a clean bill of health aside from the obvious. He is not sure what to make of the little bump on his head-he is wondering if something fell on him and it may possibly go away. He told me to just watch to make sure it doesn't get any bigger.
We still have not heard from Livia. I am very anxious to get this moving as I'm sure you can understand. I am sad that this is such a horrendous diagnosis; however, I do have hope. I've just been thinking that this is the biggest thing that has happened for us since Nathan first began having problems. Never have we had a definitive diagnosis, free from speculation and a course of action worth taking. This has all happened since Bennett was born and we have had so many more people praying for us. I don't understand why God chooses to answer some prayers in the ways in which we as human beings desire and chooses to answer others in other ways, but perhaps things are changing. I just feel like something is happening, something positive. Maybe this is the miracle we have been praying for, not that they will be cured and everything will be resolved, but that the course of their lives will be changed and they will be able to have a more normal life. Maybe I sound like a crazy, desparate mother or perhaps you thought that already.
On a technical note, I forgot to mention that the gene change that Nathan has for Pycno, means nothing in relation to his condition. It was merely a coincidence that unfortunately sidetracked the genetics team for a little while. Also my one other question for genetics is how would Nathan's condition affect his eating. I can understand how it could affect his weight gain, but he has such a limited appetite, never asks to eat and has to be coerced into eating. I am wondering how that is related to the disorder.
Thank you for all your continued prayers and please pray that we get a decision from Boston on when and if they will accept the boys for the clinical trial.
We still have not heard from Livia. I am very anxious to get this moving as I'm sure you can understand. I am sad that this is such a horrendous diagnosis; however, I do have hope. I've just been thinking that this is the biggest thing that has happened for us since Nathan first began having problems. Never have we had a definitive diagnosis, free from speculation and a course of action worth taking. This has all happened since Bennett was born and we have had so many more people praying for us. I don't understand why God chooses to answer some prayers in the ways in which we as human beings desire and chooses to answer others in other ways, but perhaps things are changing. I just feel like something is happening, something positive. Maybe this is the miracle we have been praying for, not that they will be cured and everything will be resolved, but that the course of their lives will be changed and they will be able to have a more normal life. Maybe I sound like a crazy, desparate mother or perhaps you thought that already.
On a technical note, I forgot to mention that the gene change that Nathan has for Pycno, means nothing in relation to his condition. It was merely a coincidence that unfortunately sidetracked the genetics team for a little while. Also my one other question for genetics is how would Nathan's condition affect his eating. I can understand how it could affect his weight gain, but he has such a limited appetite, never asks to eat and has to be coerced into eating. I am wondering how that is related to the disorder.
Thank you for all your continued prayers and please pray that we get a decision from Boston on when and if they will accept the boys for the clinical trial.
4.16.2009
Today
So I still didn't have a good nights sleep, still processing the facts. We use the words "fatal" and "premature aging" to say things that need to be said in a more direct way. Two of our three children will most likely die young. We will outlive them. We will raise them and they will probably leave this earth before they have gotten married, had children etc.
But with this possible trial, maybe their quality of life can be greatly improved! Perhaps with advances in this area of the medicine they may be able to slow the process so much so that they can do all those things. I'm just ready to get started. I hope that Livia calls today. I am not doing as well as I was yesterday, but still trying so hard to be hopeful and positive.
I am off to a 4 month checkup with the regular pediatrician for Bennett in which I will have to review all of the information with Dr. Lockman. Other things that need to be done, schedule more appts at Theraplay, get bloodwork for Nathan, schedule stomach emptying study for Nathan, schedule appt with Dr. Myers for Nathan (kidney), schedule sleep study for Nathan, feeding clinic for Nathan on Monday 4/20 (that is a 3+ hour process) evaluation for EI for Bennett on 5/4, GI for Bennett on 5/1, apply for MA for Bennett (a paperwork nightmare) and in the midst of this we have to find time and plan for Bennett to be baptised. Well I am going to be late as usual. I might try to visit my work after that if I have the energy.
But with this possible trial, maybe their quality of life can be greatly improved! Perhaps with advances in this area of the medicine they may be able to slow the process so much so that they can do all those things. I'm just ready to get started. I hope that Livia calls today. I am not doing as well as I was yesterday, but still trying so hard to be hopeful and positive.
I am off to a 4 month checkup with the regular pediatrician for Bennett in which I will have to review all of the information with Dr. Lockman. Other things that need to be done, schedule more appts at Theraplay, get bloodwork for Nathan, schedule stomach emptying study for Nathan, schedule appt with Dr. Myers for Nathan (kidney), schedule sleep study for Nathan, feeding clinic for Nathan on Monday 4/20 (that is a 3+ hour process) evaluation for EI for Bennett on 5/4, GI for Bennett on 5/1, apply for MA for Bennett (a paperwork nightmare) and in the midst of this we have to find time and plan for Bennett to be baptised. Well I am going to be late as usual. I might try to visit my work after that if I have the energy.
4.15.2009
The Day After
As you can imagine I didn't sleep too well last night. I just keep thinking about all the latest developments and the information is swirling in my head.
In processing all of this information with family and friends I feel a little bit angry. Angry because this is essentially, progeria-yes it is a different name, yes the lifespan is longer by several years; however, it is a progressive premature aging disorder. We were given this diagnosis three years ago and then told no, it is definitely not Progeria. I'm not saying I knew it was progeria, but I always worried that it was. Nathan had so many similar features to the disorder. Mark would try to reassure me that the doctors knew what they are doing and have told us that it is definitely not progeria. I am not blaming anyone. I truly believe that the doctors did their best to find this diagnosis and they meant well in reassuring us that Nathan did not have it. I just feel silly for working for 3 years to get that out of my head and accept that he didn't have progeria only to learn that he has a progeriod syndrome anyway.
Now, I am happy to have a diagnosis. I don't know how a diagnosis does this but somehow it provide's comfort and some relief. Even though there are very few other cases to provide insight into the course of the disorder, it helps to have a name for a collection of symptoms, all of which Nathan possesses. When people asked us what Nathan had and we responded with the Pycno word, we would just shrug our shoulders because we knew it didn't really cover all of his symptoms. Now we know for sure.
In the infertility race it was easy to get carried away. First you tell yourself you will only do an evaluation and posssibly medication. Pretty soon you have numerous failed Artificial Inseminations and IVF procedures behind you in an effort to reach that pregnancy goal. Knowing when to stop reaching is of course the key. I do not want to be one of those parents that spans the globe, jeopardizes my marriage and spends all my money on treatments that have no scientific evidence. I want to find successful treatment for my sons, but it is still more important for me to enjoy our life as it is. I spent way to many years in the baby chase to spend my 30's (okay, late 30's) allowing my children to be guinea pigs.
That being said, we now know what we are fighting and I am ready to fight. I am ready to go to Boston and get started. Livia has not called today, which I am kind of surprised about. I hope this is not a bad sign that they are unwilling to enroll Bennett and Nathan in the program. My concern is that we would fall in the crack of not qualifying because it is not classic progeria. Yesterday they seemed so anxious so I thought this would all be happening quickly. The little man is crying so I'm done for now.
In processing all of this information with family and friends I feel a little bit angry. Angry because this is essentially, progeria-yes it is a different name, yes the lifespan is longer by several years; however, it is a progressive premature aging disorder. We were given this diagnosis three years ago and then told no, it is definitely not Progeria. I'm not saying I knew it was progeria, but I always worried that it was. Nathan had so many similar features to the disorder. Mark would try to reassure me that the doctors knew what they are doing and have told us that it is definitely not progeria. I am not blaming anyone. I truly believe that the doctors did their best to find this diagnosis and they meant well in reassuring us that Nathan did not have it. I just feel silly for working for 3 years to get that out of my head and accept that he didn't have progeria only to learn that he has a progeriod syndrome anyway.
Now, I am happy to have a diagnosis. I don't know how a diagnosis does this but somehow it provide's comfort and some relief. Even though there are very few other cases to provide insight into the course of the disorder, it helps to have a name for a collection of symptoms, all of which Nathan possesses. When people asked us what Nathan had and we responded with the Pycno word, we would just shrug our shoulders because we knew it didn't really cover all of his symptoms. Now we know for sure.
In the infertility race it was easy to get carried away. First you tell yourself you will only do an evaluation and posssibly medication. Pretty soon you have numerous failed Artificial Inseminations and IVF procedures behind you in an effort to reach that pregnancy goal. Knowing when to stop reaching is of course the key. I do not want to be one of those parents that spans the globe, jeopardizes my marriage and spends all my money on treatments that have no scientific evidence. I want to find successful treatment for my sons, but it is still more important for me to enjoy our life as it is. I spent way to many years in the baby chase to spend my 30's (okay, late 30's) allowing my children to be guinea pigs.
That being said, we now know what we are fighting and I am ready to fight. I am ready to go to Boston and get started. Livia has not called today, which I am kind of surprised about. I hope this is not a bad sign that they are unwilling to enroll Bennett and Nathan in the program. My concern is that we would fall in the crack of not qualifying because it is not classic progeria. Yesterday they seemed so anxious so I thought this would all be happening quickly. The little man is crying so I'm done for now.
4.14.2009
Numbers 6 & 7!
Nathan and Bennett have a very rare disorder, called Mandibuloacral Dysplasia. There are two different types which I discovered myself in the literature I found on line. The first type has a mutation in the LMNA gene and the second type is a mutation with the ZMPSTE24 which affects the LMNA gene. So when I say rare, you guessed it.....there are five other documented cases, two of whom are alive and three deceased. Nathan is number 6 and Bennett is number 7. Here is the run-down of the other cases:
The two living children are from Japan. They are sisters who are 3 and 7. The 7 year old is 39 inches tall which is 4 standard deviations below the norm. The 3 1/2 year old is 33 inches. Nathan is right now 35 inches. There is no information if they have had any kind of treatment.
The third person died at the age of 2 years and nine months due to upper airway obstruction which may be related to the disorder.
The other two cases grew to adulthood. The one was born in 1974 in Belgium. At 16 years old she was 5'1" tall and at 27 she died from kidney failure. The last patient was born in 1968. He had renal problems at the age of 19 and eventually had a kidney transplant. He died at the age of 37.
So the things we have to worry about are airway obstructions and kidney problems. The joint contractures also become problematic; however, there is no reference in any of the cases to brittle bones and fractures.
So there was a 25% chance that any child born from Mark and I would have this disorder and out of two biological children, we had two. We had a 75% chance of them not having it and we missed that 75% both times which is pretty amazing.
So there are trial studies that have been done with mice with this condition and statins, biophosphinates and farnesyl inhibitors have been shown to increase subcutaneous fat and hair in the mice. It does not reverse or stop the aging process. It would merely allow them to gain some weight and possibly slow the process (from what I understand). One of the studies increased the lifespan of the mice from 101 days to 159 days which is encouraging. So this is just in mice and they are anxious to begin trials in humans. I asked why with so few cases are they so anxious to find treatments and it is due to it's relationship to progeria.
So there are two places to go for these trial treatments. France is one. They are ready to enroll Nathan in the program. All treatment, flights, hotels etc for Nathan and two parents would be paid for. The downside is that it's 3 inital trips of 6 weeks duration in France and thereafter 7 more visits. It sounds tempting to have free trips to France with accomodations but we just can't disrupt our lives that much. Livia and Dr. Zackai are pretty certain that Boston would work with both boys, but we have no official word yet. So right now we are waiting to hear back from Boston. In the meantime we need to schedule with a kidney specialist at CHOP, Dr. Myers as well as have Nathan undergo another sleep study just to check for apnea since breathing has been an issue for other patients. I just don't want the kids to spend their childhoods in doctors offices, especially if they will have a shortened life span.
I'm a little bummed because I kept saying that Nathan looked like the kids with progeria and they kept blowing it off. Anyway, so now we are dealing with a progressive disorder, my worst nightmare. They had told us that they were 99.9% sure it was not a progressive disorder. So it's not age 12 but is 20-25 any better? Who knows. The worst was a picture in one of the articles of the young lady from Belgium. It was a disturbing picture of her at the age of 16 in which she had the appearance of a 75 year old man. Honestly it didn't even look like a female.
So on a positive note, we have a diagnosis. We know that it is a combination of Mark and I rather than from one parent or another. Dr. Zackai and Livia were amazingly nice. They had stacks and stacks of articles for us. Dr. Zackai had researched all of this information, contacting numerous people in the field, trying to find resources for us. That's all I can think of for now. If I can think of anything else I will add information later.
The two living children are from Japan. They are sisters who are 3 and 7. The 7 year old is 39 inches tall which is 4 standard deviations below the norm. The 3 1/2 year old is 33 inches. Nathan is right now 35 inches. There is no information if they have had any kind of treatment.
The third person died at the age of 2 years and nine months due to upper airway obstruction which may be related to the disorder.
The other two cases grew to adulthood. The one was born in 1974 in Belgium. At 16 years old she was 5'1" tall and at 27 she died from kidney failure. The last patient was born in 1968. He had renal problems at the age of 19 and eventually had a kidney transplant. He died at the age of 37.
So the things we have to worry about are airway obstructions and kidney problems. The joint contractures also become problematic; however, there is no reference in any of the cases to brittle bones and fractures.
So there was a 25% chance that any child born from Mark and I would have this disorder and out of two biological children, we had two. We had a 75% chance of them not having it and we missed that 75% both times which is pretty amazing.
So there are trial studies that have been done with mice with this condition and statins, biophosphinates and farnesyl inhibitors have been shown to increase subcutaneous fat and hair in the mice. It does not reverse or stop the aging process. It would merely allow them to gain some weight and possibly slow the process (from what I understand). One of the studies increased the lifespan of the mice from 101 days to 159 days which is encouraging. So this is just in mice and they are anxious to begin trials in humans. I asked why with so few cases are they so anxious to find treatments and it is due to it's relationship to progeria.
So there are two places to go for these trial treatments. France is one. They are ready to enroll Nathan in the program. All treatment, flights, hotels etc for Nathan and two parents would be paid for. The downside is that it's 3 inital trips of 6 weeks duration in France and thereafter 7 more visits. It sounds tempting to have free trips to France with accomodations but we just can't disrupt our lives that much. Livia and Dr. Zackai are pretty certain that Boston would work with both boys, but we have no official word yet. So right now we are waiting to hear back from Boston. In the meantime we need to schedule with a kidney specialist at CHOP, Dr. Myers as well as have Nathan undergo another sleep study just to check for apnea since breathing has been an issue for other patients. I just don't want the kids to spend their childhoods in doctors offices, especially if they will have a shortened life span.
I'm a little bummed because I kept saying that Nathan looked like the kids with progeria and they kept blowing it off. Anyway, so now we are dealing with a progressive disorder, my worst nightmare. They had told us that they were 99.9% sure it was not a progressive disorder. So it's not age 12 but is 20-25 any better? Who knows. The worst was a picture in one of the articles of the young lady from Belgium. It was a disturbing picture of her at the age of 16 in which she had the appearance of a 75 year old man. Honestly it didn't even look like a female.
So on a positive note, we have a diagnosis. We know that it is a combination of Mark and I rather than from one parent or another. Dr. Zackai and Livia were amazingly nice. They had stacks and stacks of articles for us. Dr. Zackai had researched all of this information, contacting numerous people in the field, trying to find resources for us. That's all I can think of for now. If I can think of anything else I will add information later.
nervous nervous nervous
Well I am leaving for our meeting at CHOP, meeting Mark down there and I'm very very nervous. It is strange that they want to meet with us without the kids! They are never this thorough. What if they are going to tell us something really bad? ugghhh My stomach hurts.
We have a winner. (very long..........)
Well, it looks like we have a diagnosis. It is definitely the mandibuloacral dysplasia. We are going down to CHOP today without children to have a meeting with Genetics and they will give us all the information they have on the diagnosis. Unfortunately that is not much. There are only like 30 families with this diagnosis and I believe that is not currently, but 30 families in total. So there is no protocol, no one to contact that has the disorder and little information on what to expect. The mutation is not in the LMNA gene which is why it is not classic progeria. The mutation is in the other gene that I mentioned which with the mutation does not allow the LMNA gene to mature.
The reason these mutations occurred is because Mark and I are apparently both carriers who just happened to meet and decide to have children. There is a different mutation that would indicate blood relation several generations back; however, the boys do not have that mutation (I don't think I described that right, but I know the end result is that we are not related). It is hard to understand how our union could have resulted in something like this. We have such a good relationship and it feels like we were meant to be together, so it doesn't feel right that we were unable to have healthy children together. We look back at infertility and think that maybe that was a sign that we ignored, that we weren't supposed to have children. But God is in control and neither pregnancy was a result of infertility treatment.
The literature that I have found lists premature death as a symptom, but does not say how premature. It is progressive in terms of the aging process but we do not know how quickly it occurs. CHOP genetics is willing to work with us and help us but they do not have the resources to really do anything other than refer us to either Boston or France where they are doing trial studies. The program in France does not work with children under 3 and they are waiting to hear back from Boston.
When I got off the telephone with Livia, I was happy. Happy to have a diagnosis, happy that we might have a plan of action; however, that quickly turned to sadness and anxiety. When I looked at the symptoms such as joint contractures, decreased mobility, being stooped over, diabetes and renal failure, I felt like I couldn't breathe. How fast will it happen? Looking at Nathan I can't imagine that happening to him. But look at how much he changed in 3 years. He already complains about his knees hurting. What is it going to be like in 10 years? I still cannot believe that Bennett will change in the same way. Like I've said before, he appears so perfect right now and it seems impossible that he will look like Nathan in 3 years. For the first time in a long time, Mark was beat up by the news too. Once again it was mixed emotions for me to see him upset. On one hand I sometimes want to scream at him and say, "aren't you upset by this?" and his response is a 'it is what it is' attitude. So I was relieved to not be alone in my sadness and anxiety, but then realized that this must be big if Mark is upset. He is my source of stability and strength.
While we are trying to discuss this, first by telephone and then at home, the children are continuing with their typical kid behaviors. It is so hard to keep up the normal schedule when you just want to crawl in a hole. You can't tell the kids that you just got devastating news, so go up to your rooms and be quiet! No, I had to get dinner ready and sit at the table and not take out my anger and frustration on them. It's difficult to be empathetic with your child when he is crying that he got the wrong plate or wanted to help pass out the napkins when your mind is on all this other stuff.
Obviously we will travel around the world and spend all of our money to find a treatment for the boys if necessary; however, I can't believe that may be our life! We just wanted a couple of regular kids and a normal suburban life. Now we may be spending our lives at doctors offices and hospitals having our kids be poked and prodded. What kind of life is that for them? What kind of life is it for Libby? We have to keep things normal for her. For me, Libby is what keeps me going. She is the blessing that keeps me fighting every day. Not that I don't love the boys, but I feel like Libby was a special gift from her birth mother and from God. We have been entrusted with her care and for some reason God thought that we would be the best parents for her. I know the same thing is true with Nathan and Bennett, but it feels more literal with Libby. Plus of course she is my girl. So anyway, I'm not sure how we are going to have a normal little league/soccer type family with all of this medical stuff but I guess we will find away. I wonder if we now qualify for the Make A Wish foundation, or better yet Extreme Home Makeover? Are we in that bad of shapeyet? Probably not. Maybe I don't want to be.
Well that's all for now. My mom is driving her down here to watch the kids so that we can go meet with the genetics team at CHOP. By the way, we are dealing with all this stuff while Mark started his brand new job just yesterday which makes it all the more interesting. He has to be at the top of his game for work and take care of his emotional mess of a wife. Honestly I have to tell you that depression is depressing. All of the symptoms you see in the commercials are true, no energy, lots of sleeping, house a mess and no interest in doing the things I typically love to do. Poor Libby pulled a pair of pants out of her laundry basket to wear today. (In my defense she does have 3-4 clean pair of pants that she claims give her "wedgies")
The reason these mutations occurred is because Mark and I are apparently both carriers who just happened to meet and decide to have children. There is a different mutation that would indicate blood relation several generations back; however, the boys do not have that mutation (I don't think I described that right, but I know the end result is that we are not related). It is hard to understand how our union could have resulted in something like this. We have such a good relationship and it feels like we were meant to be together, so it doesn't feel right that we were unable to have healthy children together. We look back at infertility and think that maybe that was a sign that we ignored, that we weren't supposed to have children. But God is in control and neither pregnancy was a result of infertility treatment.
The literature that I have found lists premature death as a symptom, but does not say how premature. It is progressive in terms of the aging process but we do not know how quickly it occurs. CHOP genetics is willing to work with us and help us but they do not have the resources to really do anything other than refer us to either Boston or France where they are doing trial studies. The program in France does not work with children under 3 and they are waiting to hear back from Boston.
When I got off the telephone with Livia, I was happy. Happy to have a diagnosis, happy that we might have a plan of action; however, that quickly turned to sadness and anxiety. When I looked at the symptoms such as joint contractures, decreased mobility, being stooped over, diabetes and renal failure, I felt like I couldn't breathe. How fast will it happen? Looking at Nathan I can't imagine that happening to him. But look at how much he changed in 3 years. He already complains about his knees hurting. What is it going to be like in 10 years? I still cannot believe that Bennett will change in the same way. Like I've said before, he appears so perfect right now and it seems impossible that he will look like Nathan in 3 years. For the first time in a long time, Mark was beat up by the news too. Once again it was mixed emotions for me to see him upset. On one hand I sometimes want to scream at him and say, "aren't you upset by this?" and his response is a 'it is what it is' attitude. So I was relieved to not be alone in my sadness and anxiety, but then realized that this must be big if Mark is upset. He is my source of stability and strength.
While we are trying to discuss this, first by telephone and then at home, the children are continuing with their typical kid behaviors. It is so hard to keep up the normal schedule when you just want to crawl in a hole. You can't tell the kids that you just got devastating news, so go up to your rooms and be quiet! No, I had to get dinner ready and sit at the table and not take out my anger and frustration on them. It's difficult to be empathetic with your child when he is crying that he got the wrong plate or wanted to help pass out the napkins when your mind is on all this other stuff.
Obviously we will travel around the world and spend all of our money to find a treatment for the boys if necessary; however, I can't believe that may be our life! We just wanted a couple of regular kids and a normal suburban life. Now we may be spending our lives at doctors offices and hospitals having our kids be poked and prodded. What kind of life is that for them? What kind of life is it for Libby? We have to keep things normal for her. For me, Libby is what keeps me going. She is the blessing that keeps me fighting every day. Not that I don't love the boys, but I feel like Libby was a special gift from her birth mother and from God. We have been entrusted with her care and for some reason God thought that we would be the best parents for her. I know the same thing is true with Nathan and Bennett, but it feels more literal with Libby. Plus of course she is my girl. So anyway, I'm not sure how we are going to have a normal little league/soccer type family with all of this medical stuff but I guess we will find away. I wonder if we now qualify for the Make A Wish foundation, or better yet Extreme Home Makeover? Are we in that bad of shapeyet? Probably not. Maybe I don't want to be.
Well that's all for now. My mom is driving her down here to watch the kids so that we can go meet with the genetics team at CHOP. By the way, we are dealing with all this stuff while Mark started his brand new job just yesterday which makes it all the more interesting. He has to be at the top of his game for work and take care of his emotional mess of a wife. Honestly I have to tell you that depression is depressing. All of the symptoms you see in the commercials are true, no energy, lots of sleeping, house a mess and no interest in doing the things I typically love to do. Poor Libby pulled a pair of pants out of her laundry basket to wear today. (In my defense she does have 3-4 clean pair of pants that she claims give her "wedgies")
4.11.2009
Square One
Well I am feeling bad again. After reading all the stuff yesterday I am worried that what the boys have is going to get worse instead of better. What if they eventually have increased bone and joint problems requiring surgery or develop other medical conditions that compromise their health. After all the things they told us we are back to square one. They assured us that it was not progresssive, they assured us that it was not progeria and that his LMNA gene was normal. The problem is that they don't know. We can't be comforted by much that they tell us because they can turn around and tell us something different the next week. They said they were "going with Pycnodysostosis" but now I guess that is out the window. So when Mark and I were found to not have the same gene change as Nathan, it really didn't mean anything. I forgot to mention that the bloodwork results are a whole new test that was not available a year or two ago. If this had been available perhaps we could have had our embryos tested for the gene change and gone that route to expand our family. But then we wouldn't have Bennett and I'm quite sure he has a lot to offer us and the world. I'm not sure if the gene change that Nathan previously showed and we were tested for is related to this newly found gene change. If anyone who knows anything about genetics and biology is reading this, they must be cringing. I know nothing about it and I'm quite sure I'm not using the right terminology. I cannot sort through all this stuff when I do not have an understanding of it. It just feels like we know nothing now.
Nathan is one thing. He is a happy little boy. I know he is not going to have a normal life, but I was hoping for a normal lifespan. Now we have this new little baby and it feels like he has a life sentence already. Bennett was supposed to balance out our family, provide some normalcy and I still can't wrap my brain around the fact that it isn't going to be that way. It seems unimaginable that at such a young age we know the problems he is going to face. To know that we have so many hurdles ahead of us with him feels like more than I can bear most of the time.
So I'm determined to do normal family things as much as possible because they are the things that make me forget about all of our family issues and have fun. Playing together outside is a big one so tonight I drug Mark out on a walk. Nathan rode his tricycle, Libby rode her scooter and I pushed Bennett in the stroller. It was so much fun until the end when Nathan fell off the bike (not really his fault, Mark was trying to give him a push and it was a little too rough). He was bleeding and crying, Libby felt like we were fussing over Nathan and so she started crying that we never worry about her.......well I guess that is a normal family thing.
Speaking of Libby, today she lost her first tooth which was very exciting! We made a huge fuss (which I reminded her about on the walk). It is such a milestone and it was a much bigger deal to us than I think Mark or I expected. It is a true sign that she is getting big! Then we both had a moment where we had some sadness that Nathan and Bennett won't have that milestone at the typical time. Who knows when it will happen because Nathan doesn't even have a bunch of his teeth on the bottom. It was surprising that Mark got a little sad. He doesn't usually feel that way or at least he doesn't express sadness over things. It probably doesn't sound like that big of a deal to others, but it is one of those moments you take for granted in the life of a child.
It seems strange that Libby is our only child that will have a typical lifestyle. On our walk I was enjoying our kids so much and enjoying doing something that other families do too. Then I saw the neighborhood boys playing hockey, 10-12 year olds and felt a twinge of "my boys won't be able to do this." I did stop myself and remind myself that is 7 years from now and I have no idea what they will be capable of when they are that age. Maybe they won't be big strapping boys, but there was a while there that I never would have expected Nathan to be able to ride a tricycle around the neighborhood.
Nathan is one thing. He is a happy little boy. I know he is not going to have a normal life, but I was hoping for a normal lifespan. Now we have this new little baby and it feels like he has a life sentence already. Bennett was supposed to balance out our family, provide some normalcy and I still can't wrap my brain around the fact that it isn't going to be that way. It seems unimaginable that at such a young age we know the problems he is going to face. To know that we have so many hurdles ahead of us with him feels like more than I can bear most of the time.
So I'm determined to do normal family things as much as possible because they are the things that make me forget about all of our family issues and have fun. Playing together outside is a big one so tonight I drug Mark out on a walk. Nathan rode his tricycle, Libby rode her scooter and I pushed Bennett in the stroller. It was so much fun until the end when Nathan fell off the bike (not really his fault, Mark was trying to give him a push and it was a little too rough). He was bleeding and crying, Libby felt like we were fussing over Nathan and so she started crying that we never worry about her.......well I guess that is a normal family thing.
Speaking of Libby, today she lost her first tooth which was very exciting! We made a huge fuss (which I reminded her about on the walk). It is such a milestone and it was a much bigger deal to us than I think Mark or I expected. It is a true sign that she is getting big! Then we both had a moment where we had some sadness that Nathan and Bennett won't have that milestone at the typical time. Who knows when it will happen because Nathan doesn't even have a bunch of his teeth on the bottom. It was surprising that Mark got a little sad. He doesn't usually feel that way or at least he doesn't express sadness over things. It probably doesn't sound like that big of a deal to others, but it is one of those moments you take for granted in the life of a child.
It seems strange that Libby is our only child that will have a typical lifestyle. On our walk I was enjoying our kids so much and enjoying doing something that other families do too. Then I saw the neighborhood boys playing hockey, 10-12 year olds and felt a twinge of "my boys won't be able to do this." I did stop myself and remind myself that is 7 years from now and I have no idea what they will be capable of when they are that age. Maybe they won't be big strapping boys, but there was a while there that I never would have expected Nathan to be able to ride a tricycle around the neighborhood.
4.10.2009
Here goes...
Well it was an eventful day here and I am in bad shape. Bennett and Nathan both had an appointment with Dr. Boyle this morning. First Nathan. Nathan has not gained any weight since June 2008, still 23 pounds. Since the endoscopy biopsy was normal we are running out of explanations for Nathan's failure to gain weight. Celiac, Cystic Fibrosis, allergies, blockages and irritation have all been ruled out. He did order a gastric emptying study. After that and after the appointment with the feeding clinic on the 21st, he will consider a feeding tube. Although it is a step backwards, it would be nice to see if he can gain weight when his caloric intake is sufficient. Dr. Boyle also wants us to reduce Nathan's axid which terrifies me. The last time we took him off of his reflux medicine, he started throwing up at meal time.
Dr. Boyle did not change anything for Bennett. We asked if he could switch reflux medications or if there was anything else we could try, but he seemed to think Bennett was doing okay. He weighed 10 pounds 1 ounce. We kept telling Dr. Boyle that all of that weight gain was within the first week and in the second week, he has stayed the virtually the same. It seems he could only focus on the fact that he had a decent weight gain since the last appointment and wants us to continue doing the same things with Bennett. He didn't even seem concerned that Bennett eats between 2-4 ounces at each feeding. Part of me worries that he just assumes Bennett will be like Nathan and why waste energy trying to figure out why he is not eating.
That brings us to the big news. Dr. Boyle asked if we got the bloodwork back from genetics. When we said no he pulled it up on the computer. He was unwilling to interprete it for us, but he did print out the information. This is the results section for both boys bloodwork:
"This patient is heterozygous in exon 6 of the ZMPSTE24 gene for a sequence variation defined as c.743C>T which is predicted to result in the amino acid substitution p.Pro248Leu. This mutation is reported to be causative for severe mandibuloacral dysplasia. This patient is also heterozygous in exon 10 of the ZMPSTE24 gene for a mutation defined as c.1349G>A which is predictive to result in premature protein truncation. This mutation appears to be novel and is the type of mutation to be pathogenic. This finding is consistent with a diagnosis of a disorder within the spectrum of restrictive dermopathy, progeria syndrome and mandibuloacral dysplasia."
There was no one available in genetics today who was able to interprete these findings for us. They are on vaction for Easter. So, where did I turn for interpretation but the internet. First was the confirmation that they indeed have the exact same gene change and thus the same syndrome. I let that sink in all day and it is still difficult to fathom. Bennett little face is so perfect and I can't believe his features are going to change. I can't believe it was confirmed that we will have to work so hard with Bennett for gross motor development, no teeth until after he is one year old, worries about skull fractures and broken bones etc. So after it sank in, I started researching. Restrictive Dermopathy says that patients die within the first few weeks of birth, so that is obviously not possible. Severe Mandibuloacral Dysplasia (MAD) does seem to cover Nathan's symptoms. The articles that I found were few. They talk about MAD as being progressive and patients developing diabetes, renal failure etc. It seems very scary. I don't know what to think. I thought a progressive disorder was ruled out. The last time I mentioned a progeroid syndrome to Dr. Zackai she said "You've got to get progeria out of your head, he does not have progeria." The one article talked about death at the age of 35 which obviously is better than age 8-10, but that is little comfort. Here are a couple articles. The first is one is only an abstract. There were other abstracts from medical journals, but I don't have access to them.
article
Dr. Boyle did not change anything for Bennett. We asked if he could switch reflux medications or if there was anything else we could try, but he seemed to think Bennett was doing okay. He weighed 10 pounds 1 ounce. We kept telling Dr. Boyle that all of that weight gain was within the first week and in the second week, he has stayed the virtually the same. It seems he could only focus on the fact that he had a decent weight gain since the last appointment and wants us to continue doing the same things with Bennett. He didn't even seem concerned that Bennett eats between 2-4 ounces at each feeding. Part of me worries that he just assumes Bennett will be like Nathan and why waste energy trying to figure out why he is not eating.
That brings us to the big news. Dr. Boyle asked if we got the bloodwork back from genetics. When we said no he pulled it up on the computer. He was unwilling to interprete it for us, but he did print out the information. This is the results section for both boys bloodwork:
"This patient is heterozygous in exon 6 of the ZMPSTE24 gene for a sequence variation defined as c.743C>T which is predicted to result in the amino acid substitution p.Pro248Leu. This mutation is reported to be causative for severe mandibuloacral dysplasia. This patient is also heterozygous in exon 10 of the ZMPSTE24 gene for a mutation defined as c.1349G>A which is predictive to result in premature protein truncation. This mutation appears to be novel and is the type of mutation to be pathogenic. This finding is consistent with a diagnosis of a disorder within the spectrum of restrictive dermopathy, progeria syndrome and mandibuloacral dysplasia."
There was no one available in genetics today who was able to interprete these findings for us. They are on vaction for Easter. So, where did I turn for interpretation but the internet. First was the confirmation that they indeed have the exact same gene change and thus the same syndrome. I let that sink in all day and it is still difficult to fathom. Bennett little face is so perfect and I can't believe his features are going to change. I can't believe it was confirmed that we will have to work so hard with Bennett for gross motor development, no teeth until after he is one year old, worries about skull fractures and broken bones etc. So after it sank in, I started researching. Restrictive Dermopathy says that patients die within the first few weeks of birth, so that is obviously not possible. Severe Mandibuloacral Dysplasia (MAD) does seem to cover Nathan's symptoms. The articles that I found were few. They talk about MAD as being progressive and patients developing diabetes, renal failure etc. It seems very scary. I don't know what to think. I thought a progressive disorder was ruled out. The last time I mentioned a progeroid syndrome to Dr. Zackai she said "You've got to get progeria out of your head, he does not have progeria." The one article talked about death at the age of 35 which obviously is better than age 8-10, but that is little comfort. Here are a couple articles. The first is one is only an abstract. There were other abstracts from medical journals, but I don't have access to them.
article
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=379176
http://sid.ir/en/VEWSSID/J_pdf/98020060407.pdf
So anyway, I don't know what to think. Several of the articles talk about consanguineous marriages which is impossible. Mark is Italian, German, Irish and Hungarian. I am German and English. If you've seen Mark and his Dad or me and my sisters & mom you know that it is not possible that either of us were secretly adopted. I don't understand all the genetic lingo and need a human to interprete the report for me. Actually that still may not clear it up for me. I just don't want Nathan to get worse. I am so so confused right now. I guess we will have to wait until Monday to learn more. I feel tired, tired of all the appointments, tired of trying to find answers. Maybe this is finally a diagnosis which I guess would be good. The one article said there were only 10 families known to be affected by it which is amazing (not in a good way).
4.09.2009
Bennett's eating continues to be less than stellar. He is eating about 3 ounces at a time which is okay, but not great. Mark just weighed him and he weighed 10 pounds, 3 ounces. He has his GI appointment tomorrow. I am still hopeful that we can get the reflux straightened out so he can start gaining weight by leaps and bounds like other babies.
I recently started following another mom's blog. We met online through selling kids clothes on ebay. She had a baby boy named Carter, almost two weeks ago and he is struggling with numerous medical issues. He has multiple birth defects that will eventually be corrected with surgery; however, right now he is very sick. He is having trouble breathing and fighting off an infection and the doctors cannot figure out why. The reason I bring this up is because of his mom's strength and positive attitude. Although she is obviously worried about his current situation she is already expressing acceptance that she and her husband have been blessed with this little guy. It has led me to question why she has gotten 'there' after being suddenly thrown in this situation, when I have not gotten there in 3 1/2 years? I don't know the answer to that. Is it because I have never had the opportunity to have a full term healthy biological child? Maybe I wouldn't feel so cheated if I had not had infertility, the trials of adoption and then two premature failure to thrive babies. When Sarah Palin came into the limelight, I questioned the same thing. How is she able to be so happy about having a child with Downs Syndrome? But perhaps after having four healthy biological children, it builds up some type of a reserve of positive experiences. Maybe I started out with a deficit having felt abnormal my whole life due to my own physical issues during childhood. At the end of the day I guess these are all excuses for my inability to find happiness in my situation. Carter's mom is inspiring to me and I will continue to follow her blog and pray for her family. It is amazing that a mom who is new to Holland* can teach someone who has been here for so long.
* see poem on side for Holland/Italy metaphor if you didn't read it yet.
I recently started following another mom's blog. We met online through selling kids clothes on ebay. She had a baby boy named Carter, almost two weeks ago and he is struggling with numerous medical issues. He has multiple birth defects that will eventually be corrected with surgery; however, right now he is very sick. He is having trouble breathing and fighting off an infection and the doctors cannot figure out why. The reason I bring this up is because of his mom's strength and positive attitude. Although she is obviously worried about his current situation she is already expressing acceptance that she and her husband have been blessed with this little guy. It has led me to question why she has gotten 'there' after being suddenly thrown in this situation, when I have not gotten there in 3 1/2 years? I don't know the answer to that. Is it because I have never had the opportunity to have a full term healthy biological child? Maybe I wouldn't feel so cheated if I had not had infertility, the trials of adoption and then two premature failure to thrive babies. When Sarah Palin came into the limelight, I questioned the same thing. How is she able to be so happy about having a child with Downs Syndrome? But perhaps after having four healthy biological children, it builds up some type of a reserve of positive experiences. Maybe I started out with a deficit having felt abnormal my whole life due to my own physical issues during childhood. At the end of the day I guess these are all excuses for my inability to find happiness in my situation. Carter's mom is inspiring to me and I will continue to follow her blog and pray for her family. It is amazing that a mom who is new to Holland* can teach someone who has been here for so long.
* see poem on side for Holland/Italy metaphor if you didn't read it yet.
4.06.2009
A call from Mike
I forgot to mention that during the incident in which Libby asked about Nathan's veins, she said he looks old because "only old people you can see their veins." That just broke my heart that she is really starting to see the difference in Nathan. I tried to explain but I really have nothing I can tell her definitively. I said remember how Mommy told you that Nathan and Bennett have something that is going to make them look different.........She said she thinks the doctors are wrong about Bennett because he is getting big.
Our bff Mike called this morning, quite miraculous since I was going to call him today. It saved me the effort of playing phone tag. He was calling to make sure he called us about the biopsy results (which he did). He said Dr. B called him Saturday night asking him if he did which made him second guess himself. Anyway, I asked about adding Bennett to Nathan's appt time on Friday which he said he can do, so both boys will be seen on Friday morning at GI. Mark and I are amazed at what a difficult baby Bennett has become. We thought that with three kids, one of them would have been an easy baby. Doesn't everyone have one easy baby? Maybe they will be awesome teenagers.....well probably not Libby. She already locks herself in her room blaring music, plus we have to drag her out of bed most mornings. Anyway, I am anxious for Bennett to grow out of this phase. I enjoy the walking and talking age much better. I can even take the whining and disobedience over the crying.
Another major miracle is that Nathan never got the cold that knocked Libby on her butt. She missed almost a whole week of school and didn't eat much for a week and a half. I'm wondering if it is the probiotic straw with immunity boosters he has been using! He started drinking these juice boxes called Kid Essentials. They are a milk product like pediasure made by Boost. He absolutely loves them (for right now) and Aunt Jodi gave us some free samples which is great because they are $14 for a six pack. (Mark says we won't be buying them too often at that price). Anyway, I am so thankful that Nathan didn't get the sickness for whatever reason. I never expected him to escape that one.
That's it for now!
Our bff Mike called this morning, quite miraculous since I was going to call him today. It saved me the effort of playing phone tag. He was calling to make sure he called us about the biopsy results (which he did). He said Dr. B called him Saturday night asking him if he did which made him second guess himself. Anyway, I asked about adding Bennett to Nathan's appt time on Friday which he said he can do, so both boys will be seen on Friday morning at GI. Mark and I are amazed at what a difficult baby Bennett has become. We thought that with three kids, one of them would have been an easy baby. Doesn't everyone have one easy baby? Maybe they will be awesome teenagers.....well probably not Libby. She already locks herself in her room blaring music, plus we have to drag her out of bed most mornings. Anyway, I am anxious for Bennett to grow out of this phase. I enjoy the walking and talking age much better. I can even take the whining and disobedience over the crying.
Another major miracle is that Nathan never got the cold that knocked Libby on her butt. She missed almost a whole week of school and didn't eat much for a week and a half. I'm wondering if it is the probiotic straw with immunity boosters he has been using! He started drinking these juice boxes called Kid Essentials. They are a milk product like pediasure made by Boost. He absolutely loves them (for right now) and Aunt Jodi gave us some free samples which is great because they are $14 for a six pack. (Mark says we won't be buying them too often at that price). Anyway, I am so thankful that Nathan didn't get the sickness for whatever reason. I never expected him to escape that one.
That's it for now!
4.05.2009
a sad moment
Yesterday Libby asked us why you can see Nathan's veins so much. It was a sad moment for me and then I looked at Nathan and he was quietly looking at the veins in his hands. The days of other kids not noticing are just about over. The veins in Bennett's head appear (to me) to be much more prominent than Nathan's ever were. They are not bad around his temple area like Nathans so hopefully when he gets hair they won't be as visible. The kids in Libby's class asked why the veins in his head were sticking out so much. There is one on the top of his head, at the soft spot that is bulging. It doesn't look right to me at all and we will ask at his 4 month appointment on April 16th. Bennett continues to be a very unhappy baby. He is the only baby I've ever known that cries during an entire car ride. The crying is unnerving to me because of the noise and because I feel so helpless that he is unhappy. He is back to not gaining weight. He has weighed the same since last Tuesday. I'm not sure if this is due to the screaming or the less than stellar eating.
Recently someone shared with me the poem on the right side of the blog. The metaphor of Holland vs Italy is a great way of explaining being a parent of special needs children.
Recently someone shared with me the poem on the right side of the blog. The metaphor of Holland vs Italy is a great way of explaining being a parent of special needs children.
4.04.2009
She did it!!
She did it! Libby did her dance with four other little girls for the talent show. They were the last act out of 35 so we had to wait until 9:00pm, but when her turn came she ran right up there with her friends and shook that bootie of hers. The talent show was just adorable! It takes a lot of courage to get up there and perform, especially by yourself. The one sweet little girl messed up in the middle of her song and then didn't know what to do. I felt so bad and wanted to run up and hug her. Another little boy did a stand-up routine which was just precious (eta: He did adjust himself in the middle of the routine, which was pretty funny). There were hula hoopers, jump ropers, karate performances, piano playing, one painful whistling act and lots of singing and dancing groups. One of our favorites was a little girl who sang a song about selling her sister. She was not very old and she had her actual little sister on a chair with a for sale sign around her neck. The song was pretty long and she sang the whole thing without music and with confidence! The whole show was pretty impressive. It is definitely a fun way to spend a friday night. I much prefer it to my old days of hanging out in a bar (not that I was a crazy partier or anything) I am really enjoying the whole school thing, Libby being in school, becoming involved with the school etc. I really like getting to know the parents, the kids and becoming a part of our community.
I finally called Early Intervention for Bennett. I called on Monday and spoke to someone. A service coordinator finally called me back on Thursday to set up the evaluation. It was a painful conversation because they don't know that I have been through this all before. She began with an introduction to services despite me telling her that we had been through this before. Then she went on to ask what our specific concerns are with Bennett's development. She was just doing her job which is to determine if an evaluation is warranted, but I just wanted to scream; "He needs physical therapy!" So the first available evaluation is May 5th which is a month away. From that time I don't know how long it will take for services to actually begin. I am so dreading the evaluation process. It entails 4 people coming at one time and asking the same old questions and me telling our story over again. It is a painful and overwhelming process to have so many people come into your home and fire questions at you about things you don't want to talk about. It's exhausting. Then afterwards they usually stand out front and discuss something together which one can only assume is not about the weather, but about me and my family.
The honeymoon with Bennett is over. He is back to his old ways of eating, not completely but not doing as well as he was when he first began this new regimen. He is miserable all the time, has alot of belly problems and is rarely awake and content. I hate to say that he is just not a fun baby. I don't think this new formula is the miracle we were hoping for which is fine because it smells disgusting making our precious little baby pretty stinky too. He doesn't have that beautiful baby smell that is for sure. We will continue using it for a while though.
Bennett doesn't have another GI appointment until May, but Nathan has one this friday. I may call Mike from Dr. B's office to see if he can squeeze Bennett in too. Mike is our main man. Dr. B gave me his number telling me to call Mike with whatever we needed. He continues to get the job done. On Wednesday we called to tell him that Nathan was out of his one medication and by the end of the day it was refilled at Walgreens!
I finally called Early Intervention for Bennett. I called on Monday and spoke to someone. A service coordinator finally called me back on Thursday to set up the evaluation. It was a painful conversation because they don't know that I have been through this all before. She began with an introduction to services despite me telling her that we had been through this before. Then she went on to ask what our specific concerns are with Bennett's development. She was just doing her job which is to determine if an evaluation is warranted, but I just wanted to scream; "He needs physical therapy!" So the first available evaluation is May 5th which is a month away. From that time I don't know how long it will take for services to actually begin. I am so dreading the evaluation process. It entails 4 people coming at one time and asking the same old questions and me telling our story over again. It is a painful and overwhelming process to have so many people come into your home and fire questions at you about things you don't want to talk about. It's exhausting. Then afterwards they usually stand out front and discuss something together which one can only assume is not about the weather, but about me and my family.
The honeymoon with Bennett is over. He is back to his old ways of eating, not completely but not doing as well as he was when he first began this new regimen. He is miserable all the time, has alot of belly problems and is rarely awake and content. I hate to say that he is just not a fun baby. I don't think this new formula is the miracle we were hoping for which is fine because it smells disgusting making our precious little baby pretty stinky too. He doesn't have that beautiful baby smell that is for sure. We will continue using it for a while though.
Bennett doesn't have another GI appointment until May, but Nathan has one this friday. I may call Mike from Dr. B's office to see if he can squeeze Bennett in too. Mike is our main man. Dr. B gave me his number telling me to call Mike with whatever we needed. He continues to get the job done. On Wednesday we called to tell him that Nathan was out of his one medication and by the end of the day it was refilled at Walgreens!
4.01.2009
Biopsy results
Well, Nathan's biopsy was normal. Once again we had to track down the test results. I called yesterday and left a message and they called back today. Mike from Dr. Boyle's office left a chipper message saying that it was all good. Little did he know it was not good news in my book. I guess I shouldn't have gotten my hopes up. I usually don't but I really thought he would surprise the doctors. Dr. Boyle was expecting it to be normal, but Nathan seems to defy expectations. I cried for the first time in a very long time. So we have a normal fluoroscopy, normal barium swallow study, normal sweat test and now normal endoscopy. I'm not sure where we go from here with his lack of weight gain. By the way, I did weigh him the other day. He is still 23 pounds. I can't quite believe that someone can stay at the same weight for almost a year! Everytime I pick him up I swear he is heavier, but it must just be because I am used to Bennett. We have an appointment next friday with Dr. Boyle so we shall see. Well I am off to Nathan's school to get a lesson on doing stretching exercises at home. I think we know how to but we just never find the time to do them. Plus I don't like to because he cries. After my meeting with the PT he has some kind of dance show at 10:30 at his school. I'm not sure if or how he is participating but it should be interesting.
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