11.27.2006
weight
The stomach bug has done a number on Nathan. All that we have gained over the past couple of months is lost-this morning he weighed 16 pounds 8 ounces. It is such a roller coaster and we work so hard for each ounce-to have him lose a pound in one weekend is very discouraging.
11.25.2006
making myself crazy
i am upstairs on the computer on a saturday night making myself crazy, searching for possible diagnosis for nathan. i am literally wasting hours looking for symptoms and conditions and especially pictures. it is really not productive.
we had an good thanksgiving with the exception of the kids picking up the stomach bug. nathan certainly does not need to be vomiting at this stage, but what are you going to do. i have been having a really hard time lately and get sad when i look at him and see all the ways he is different from other babies. in so many ways this feels like infertility revisited. we avoid going to things where there will be little kids nathan's age. when we are around babies nathan's age or younger, we force ourselves to smile when inside it is so painful that our son is struggling so much to do the things that much younger babies are doing. it is also just getting long, dealing with the baby stuff. he has been around for 15 months and he is still a baby, eating baby food, bottles and not crawling. Tonight I put him in 6-9 month pj's in which he still has plenty of room!! Anyway, when people are with him and around him, I think they forget how far behind and how different he really is from other babies because he is just Nathan. then I find myself rambling, trying to bring people back to the reality of all the things that he is not able to do and all the symptoms that cannot be explained away. it is exhausting so maybe i should stop. people are trying to be positive and it must be exhausting to hear me be so negative. anyway, i just want to know what is wrong with him and what the outcome will be. tonight i looked at him on his hands and knees in his diaper alone (our 3rd or 4th outfit change of the day) and he looks so sickly and skinny. it makes me sad.
he is now able to transition in and out of sitting. since he moves by sitting, he doesn't have much incentive to move out of that position. we are trying to convince him that crawling would be much faster and less labor intensive, but he is not there yet. still need to learn to get in and out of standing and he will be good to go!
we had an good thanksgiving with the exception of the kids picking up the stomach bug. nathan certainly does not need to be vomiting at this stage, but what are you going to do. i have been having a really hard time lately and get sad when i look at him and see all the ways he is different from other babies. in so many ways this feels like infertility revisited. we avoid going to things where there will be little kids nathan's age. when we are around babies nathan's age or younger, we force ourselves to smile when inside it is so painful that our son is struggling so much to do the things that much younger babies are doing. it is also just getting long, dealing with the baby stuff. he has been around for 15 months and he is still a baby, eating baby food, bottles and not crawling. Tonight I put him in 6-9 month pj's in which he still has plenty of room!! Anyway, when people are with him and around him, I think they forget how far behind and how different he really is from other babies because he is just Nathan. then I find myself rambling, trying to bring people back to the reality of all the things that he is not able to do and all the symptoms that cannot be explained away. it is exhausting so maybe i should stop. people are trying to be positive and it must be exhausting to hear me be so negative. anyway, i just want to know what is wrong with him and what the outcome will be. tonight i looked at him on his hands and knees in his diaper alone (our 3rd or 4th outfit change of the day) and he looks so sickly and skinny. it makes me sad.
he is now able to transition in and out of sitting. since he moves by sitting, he doesn't have much incentive to move out of that position. we are trying to convince him that crawling would be much faster and less labor intensive, but he is not there yet. still need to learn to get in and out of standing and he will be good to go!
11.21.2006
nothing new-really
Nothing new and exciting, just that I forgot to mention last week that the reason we did not get the information from Portugal until Thursday was because the lab was waiting to release the information until CHOP paid. CHOP paid Thursday morning and they emailed the results.
Anyway-I just don't think he has the Pycnodysostosis (and I just learned how to pronounce it). Even though he has the mutation of the one copy of the gene, I am really baffled because it does not account for the sclerodermoid skin changes. If he can't have two genetic disorders and he does have the pycnodysostosis, then what is going on? When I look up sclerodermoid skin changes, I can't come up with much on the internet. There seems to be very little information about it. I really think he has acrogeria (progeria of the skin). Maybe I am just hoping for the best, but there is nothing wrong with that. Acrogeria is not progressive (I don't think). The skin changes can't be overlooked because they were diagnosed through biopsy?? I guess I am beginning to wander why we are pursuing a genetic disorder that does not account for the sclerodermoid skin, especially given that you can't have two genetic disorders (I guess anything is possible with us). Anyway-just rambling. I guess I need to call Livia again. I just want to know what are hopes are for Nathan, do we hope he can some day get a job at the Acme pushing carts or do we hope he graduates from college (yes, Bloomsburg counts as a college).
On a lighter note. We are not so pleased with the OT and the PT who finally got Nathan to sit up on his own and didn't teach him to get back down. Just kidding about the not so pleased part, but it is very challenging putting him to bed. Yesterday it took me an hour and at least 15 trips into his bedroom to get him to take a nap. Go in his room, lay him down in his crib, leave, he sits up, can't get back down and screams. Go in his room, lay him down in his crib.......Repeat 10-15 times! Also the education person came on Friday and Monday. We are supposed to try teaching him sign language since it takes less "motor planning" (i love all the terms). She brought a screening tool and we went through the list for a 13-18 month old, communication, emotional dev., social development, cognitive develop. Although it is so subjective, he seems to be doing 50-60% of them, so he is not too far behind. He is only 13 months adjusted. I hope I am not still adjusting his age when he is a teenager. 'It's okay that you didn't pass the math test Nathan. You shouldn't be in the ninth grade yet because your birthday isn't really until October 2nd. ' I guess that is what parents do right?
Anyway-I just don't think he has the Pycnodysostosis (and I just learned how to pronounce it). Even though he has the mutation of the one copy of the gene, I am really baffled because it does not account for the sclerodermoid skin changes. If he can't have two genetic disorders and he does have the pycnodysostosis, then what is going on? When I look up sclerodermoid skin changes, I can't come up with much on the internet. There seems to be very little information about it. I really think he has acrogeria (progeria of the skin). Maybe I am just hoping for the best, but there is nothing wrong with that. Acrogeria is not progressive (I don't think). The skin changes can't be overlooked because they were diagnosed through biopsy?? I guess I am beginning to wander why we are pursuing a genetic disorder that does not account for the sclerodermoid skin, especially given that you can't have two genetic disorders (I guess anything is possible with us). Anyway-just rambling. I guess I need to call Livia again. I just want to know what are hopes are for Nathan, do we hope he can some day get a job at the Acme pushing carts or do we hope he graduates from college (yes, Bloomsburg counts as a college).
On a lighter note. We are not so pleased with the OT and the PT who finally got Nathan to sit up on his own and didn't teach him to get back down. Just kidding about the not so pleased part, but it is very challenging putting him to bed. Yesterday it took me an hour and at least 15 trips into his bedroom to get him to take a nap. Go in his room, lay him down in his crib, leave, he sits up, can't get back down and screams. Go in his room, lay him down in his crib.......Repeat 10-15 times! Also the education person came on Friday and Monday. We are supposed to try teaching him sign language since it takes less "motor planning" (i love all the terms). She brought a screening tool and we went through the list for a 13-18 month old, communication, emotional dev., social development, cognitive develop. Although it is so subjective, he seems to be doing 50-60% of them, so he is not too far behind. He is only 13 months adjusted. I hope I am not still adjusting his age when he is a teenager. 'It's okay that you didn't pass the math test Nathan. You shouldn't be in the ninth grade yet because your birthday isn't really until October 2nd. ' I guess that is what parents do right?
11.17.2006
NO END IN SIGHT!
WE HEARD FROM LIVIA YESTERDAY. THE BLOODWORK CAME BACK FROM PORTUGAL AND WE ARE NO WHERE CLOSER TO ANSWERS. POOR LIVIA HAD TO GIVE ME A BIOLOGY LESSON IN ORDER TO EXPLAIN THE GENETICS, SO I WILL DO MY BEST TO CONVEY IT TO EVERYONE.
PYCNODYSTOSIS IS RECESSIVE MEANING THAT BOTH COPIES OF THE GENE HAVE TO HAVE THE MUTATION. THE GENE IS THE CTSK. NATHAN'S ONE GENE WAS MUTATED AND IN THE SECOND COPY THE MUTATION WAS NOT FOUND. THE MUTATION THAT WAS FOUND WAS A VERY IMPORTANT PART OF THE GENE AND SO IT IS "SUSPICIOUS" AND COULD BE "SIGNIFICANT" IT IS A NOVEL GENE MUTATION, MEANING IT HAS NEVER BEEN PREVIOUSLY REPORTED. THE OPTIONS ARE THAT THE OTHER GENE MUTATION WAS HIDDEN OR OVERLOOKED OR THAT HE IS JUST A CARRIER FOR PYCNODYSTOSIS. IF HE IS JUST A CARRIER, THERE IS NO PROBLEM AND HE IS JUST LIKE YOU OR ME. THEN WE WOULD HAVE TO LOOK ELSEWHERE FOR A DIAGNOSIS. EVEN IF HE DOES HAVE THE PYCNO., IT DOES NOT EXPLAIN THE SCLERODERMOID SKIN CHANGES. I ASKED IF HE COULD HAVE BOTH PYCNO AND ACROGERIA AND SHE SAID NO. HE COULD BE A CARRIER FOR PYCNO (NO SYMPTOMS) AND HAVE ACROGERIA. ACROGERIA DOES NOT ACCOUNT FOR THE WORMIAN BONES AND THE BONE REABSORBTION IN HIS FINGERTIPS. ONCE AGAIN, IT IS STRANGE THAT PROGERIA WAS THE ONLY ONE THAT ACCOUNTED FOR ALL NATHAN'S SYMPTOMS.
RIGHT NOW WE ARE OFF TO CHOP TO GET OUR BLOOD DRAWN TO SEE IF MARK AND HAVE THE GENE MUTATION. MARK AND I ARE CONFUSED ABOUT WHAT THIS WILL MEAN IF ONE OR BOTH OF US HAS IT, SO I CAN'T REALLY TELL YOU WHAT THIS WILL SHOW. I DO KNOW THAT WE HAVE TO HAVE OUR BLOOD WORK DONE TODAY BECAUSE EFFECTIVE MONDAY, THE US IS NO LONGER ALLOWING BLOODWORK TO BE CONDUCTED OUTSIDE OF THE COUNTRY BECAUSE THE LABS OUTSIDE THE COUNTRY ARE NOT FDA REGULATED. WE HAVE TO GET IN TODAY BEFORE THE LAW GOES INTO EFFECT. SO MAKE THAT 7 APPOINTMENTS THIS WEEK FOR NATHAN. HIS TEACHER IS COMING FOR THE FIRST TIME TODAY AT 12:45.
WE ARE LATE OF COURSE. MARK IS PUTTING THE KIDS IN THE CAR SO I NEED TO GO. I WILL PROBABLY WRITE MORE LATER, JUST TO VENT.
PYCNODYSTOSIS IS RECESSIVE MEANING THAT BOTH COPIES OF THE GENE HAVE TO HAVE THE MUTATION. THE GENE IS THE CTSK. NATHAN'S ONE GENE WAS MUTATED AND IN THE SECOND COPY THE MUTATION WAS NOT FOUND. THE MUTATION THAT WAS FOUND WAS A VERY IMPORTANT PART OF THE GENE AND SO IT IS "SUSPICIOUS" AND COULD BE "SIGNIFICANT" IT IS A NOVEL GENE MUTATION, MEANING IT HAS NEVER BEEN PREVIOUSLY REPORTED. THE OPTIONS ARE THAT THE OTHER GENE MUTATION WAS HIDDEN OR OVERLOOKED OR THAT HE IS JUST A CARRIER FOR PYCNODYSTOSIS. IF HE IS JUST A CARRIER, THERE IS NO PROBLEM AND HE IS JUST LIKE YOU OR ME. THEN WE WOULD HAVE TO LOOK ELSEWHERE FOR A DIAGNOSIS. EVEN IF HE DOES HAVE THE PYCNO., IT DOES NOT EXPLAIN THE SCLERODERMOID SKIN CHANGES. I ASKED IF HE COULD HAVE BOTH PYCNO AND ACROGERIA AND SHE SAID NO. HE COULD BE A CARRIER FOR PYCNO (NO SYMPTOMS) AND HAVE ACROGERIA. ACROGERIA DOES NOT ACCOUNT FOR THE WORMIAN BONES AND THE BONE REABSORBTION IN HIS FINGERTIPS. ONCE AGAIN, IT IS STRANGE THAT PROGERIA WAS THE ONLY ONE THAT ACCOUNTED FOR ALL NATHAN'S SYMPTOMS.
RIGHT NOW WE ARE OFF TO CHOP TO GET OUR BLOOD DRAWN TO SEE IF MARK AND HAVE THE GENE MUTATION. MARK AND I ARE CONFUSED ABOUT WHAT THIS WILL MEAN IF ONE OR BOTH OF US HAS IT, SO I CAN'T REALLY TELL YOU WHAT THIS WILL SHOW. I DO KNOW THAT WE HAVE TO HAVE OUR BLOOD WORK DONE TODAY BECAUSE EFFECTIVE MONDAY, THE US IS NO LONGER ALLOWING BLOODWORK TO BE CONDUCTED OUTSIDE OF THE COUNTRY BECAUSE THE LABS OUTSIDE THE COUNTRY ARE NOT FDA REGULATED. WE HAVE TO GET IN TODAY BEFORE THE LAW GOES INTO EFFECT. SO MAKE THAT 7 APPOINTMENTS THIS WEEK FOR NATHAN. HIS TEACHER IS COMING FOR THE FIRST TIME TODAY AT 12:45.
WE ARE LATE OF COURSE. MARK IS PUTTING THE KIDS IN THE CAR SO I NEED TO GO. I WILL PROBABLY WRITE MORE LATER, JUST TO VENT.
11.15.2006
Best Check-Up To Date
Yesterday Nathan had his fifteen month check-up (his second of six appointments this week). He weighed 17 1/2 pounds and is creeping towards 0% on the growth chart. Everything else looked good (aside from the obvious) and he got a flu shot and his vaccines. Still no word from CHOP. I left a message with Livia on Monday, but have not heard back from her. I am trying to anticipate how I will feel if it is a diagnosis of the Pycnodystosis. I can't tell. I am worried that with one telephone call, I will fall apart again. Nathan had another milestone on Monday-he transitioned from his hands and knees to sitting which is huge!! He did it twice on Monday so hopefully it was not a fluke.
11.07.2006
Tired
I am so tired and worn out. Yesterday was a long day and I am also tired emotionally. I am tired of not knowing what is wrong with Nathan. Every once in a while, I remember that he still could have a progressive or fatal disorder. They really don't know what he has as evidenced by them being so convinced he had Progeria. All of this stuff is so rare and new even to them. The list of his symptoms is sometimes so overwhelming to me and his skin seems to be more and more wrinkly in appearance. I feel like some of the symptoms can be explained away (like the developmental delays or the delayed teeth), but when they are all together, they just cannot be explained away. There are way too many serious symptoms. It is no longer possible that he will outgrow these things or that they are part of something inocuous. The best we can hope for is non-fatal and non-progressive, something I was perfectly fine with after learning that he did not have progeria, but now I am depressed about. I am just wondering if he will get better or worse. I want to know what his skin will eventually look like. Will he be able to have any kind of normalcy? How tall will he be? We have been stuck in limbo for so long now, I am just tired. People have suggested support groups, but I feel like my situation is so unique. Not only do we not have a diagnosis, but all this is on the heels of the infertility, adoption and prematurity. It is not an isolated incident. It is a bad situation on top of several bad situations we have experienced. And my self-esteem was not so great even before infertility!!! No one else can understand that. I wonder how I will come out on the other side of this one. Will I be a stronger, better person or will I be angry and bitter. How will Mark and I come out on the other side? Will we be stronger and more united? We have been through and continue to go through the list of the most difficult things on a marriage. How do I/we readjust to this new life we have, with a special needs child? How do others do it so gracefully and why am I so bitter about it? I wonder if other people (the blessed to be a parent of a special needs child), I wonder if they go through some of the same things I am, but just don't put it all out there like I do. Maybe I shouldn't be putting it all out there. Maybe I should be more discrete. Okay, the cat is sitting in front of the monitor, so I have an orange tail in my face and can't see what I am typing. He's gone. Thank you for praying for us. I feel like I especially need prayers that God will give me strength to get through each day. Eventually each day will lead up to a diagnosis.
By the way, there are things for which I am grateful. I am especially thankful for all of you, my fans-I mean my friends and family. I didn't fully know how strong and giving all of you were until this experience. I am grateful for the understanding everyone has given us, the meals and the babysitting. I am also thankful that Libby enjoys going to her friend Nicholas' house while I take Nathan to appointments. "Miss Susan's" house is one of the few places that she does not experience separation anxiety. If I had to leave her somewhere where she was crying and missing me, it would be awful. I am also thankful that CHOP is so close to home. Yesterday it took me 20 minutes to get home from one of the best hospitals in the country(even though all they told me was to smile when I feed my son)! Anyway-just so you know I am not always so negative.
By the way, there are things for which I am grateful. I am especially thankful for all of you, my fans-I mean my friends and family. I didn't fully know how strong and giving all of you were until this experience. I am grateful for the understanding everyone has given us, the meals and the babysitting. I am also thankful that Libby enjoys going to her friend Nicholas' house while I take Nathan to appointments. "Miss Susan's" house is one of the few places that she does not experience separation anxiety. If I had to leave her somewhere where she was crying and missing me, it would be awful. I am also thankful that CHOP is so close to home. Yesterday it took me 20 minutes to get home from one of the best hospitals in the country(even though all they told me was to smile when I feed my son)! Anyway-just so you know I am not always so negative.
11.06.2006
Feeding Clinic
Today was Nathan's appt with the feeding clinic at CHOP. Their focus was mostly behavioral, so I did not find it too helpful. They recommended introducing new mashed table foods one at a time, letting him hold an extra spoon during feedings and praising him at the end of each meal. We saw eight different professionals including a nurse practitioner, two occupational therapists, a speech therapist, a psychologist, an attending physician, a dietician and a social worker. We (me and Nathan) were there for three hours. Nathan is getting more difficult to deal with in those kinds of settings because he doesn't like to be in the stroller and wants to be down on the floor. For some strange reason I keep thinking I'm going to get things like cards written or other paperwork completed while I am at these appts. I never actually get to any of it, so I'm not sure why I continue to take it along. Anyway, I kind of had a feeling today would not be very imformative. It was just one of those parts of the process that we had to do. Although Nathan is definitely a picky eater, I feel like we can deal with that. My concern is that it seems like when he is eating enough, he is not gaining weight. Today he weighed 16 pounds 11 ounces and measured 28 inches in length. Eight weeks and no word from Portugal!
11.02.2006
journaling
I now know that Nathan looks different than other kids and it hurts to the core. It makes my bones ache. I thought I have accepted that he has some kind of disorder, but I guess in the back of my mind I am hoping that he doesn't have anything and just needs to put some weight on. I guess it won't be much longer that he will be able to pass for normal.
I feel so alone and once again left out of the crowd. I just want what everyone else has, some normalcy in my life, some predictability. It feels like everyone else our age or stage is moving forward and we keep getting stuck at evey turn. It just can't be true, can it? It doesn't seem possible sometimes that something could be wrong with Nathan after every hurdle we have already been through. Don't we deserve to have some down time, to enjoy our kids and each other? I often wonder what life would be like if we had gone along without major incidences in our lives, without the bottom dropping out on us on so many occasions. Even with adoption, the night before we were to go and pick up our baby, we learned that Danielle (birthmom) was "wavering" and wanting to parent Libby. Talk about the bottom dropping out! When I talk about what we have been through, I mention infertility, adoption and prematurity. I feel guilty lumping adoption in there, because obviously it was a blessing and I can't imagine life with out my Libby. But it still was and continues to be the more difficult route to having children. Believe me I've done both and I would much prefer nine months of pregnancy. There are so many unknowns for us with adoption and the knowledge that Libby will most likely go through a grieving process of her own. The one positive thing about adoption is that Libby has a chance at being athletic by not inheriting her mom and dad's skills (lack of-sorry Mark).
When I was pregnant with Nathan and after he came, we thought we were having a child who would look like us. Once he was here and did look like us (mostly me), who would ever think that could be taken away? But for us it has been. He is not going to look like us. He is going to look like a boy with a genetic syndrome. He is not going to be the son we had pictured and certainly not the life we envisioned for him. We are the parents of a little girl who is adopted and a boy with a syndrome. Let all the party guests know when we are coming that our son has a syndrome and our daughter is adopted. We want everyone to be prepared to pretend we are typical family. We will be like the elephant in the room.
I know that others are struggling with things of their own too, some smaller and some bigger. The smaller ones are just as big to those people because it is all subjective. I am not trying to say that I am having a harder time than any other one person. I know that life is hard, but this is my place to vent and save money on therapy. I certainly understand if people tune out when they become annoyed with my complaining. I get tired of hearing myself complain. The blog really does help me though. It helps me put a smile on my face and do all the things I do for Nathan and Libby during the day. Otherwise I think I would explode.
The feeding clinic at CHOP can see Nathan on Monday at 10:30. I don't know what they do, but it is a two hour appt. My friend Susan (Nicholas' mom) is watching Libby for me while I take Nathan. She has been a huge help with Libby during all Nathan's appts and Libby loves Nicholas!
I feel so alone and once again left out of the crowd. I just want what everyone else has, some normalcy in my life, some predictability. It feels like everyone else our age or stage is moving forward and we keep getting stuck at evey turn. It just can't be true, can it? It doesn't seem possible sometimes that something could be wrong with Nathan after every hurdle we have already been through. Don't we deserve to have some down time, to enjoy our kids and each other? I often wonder what life would be like if we had gone along without major incidences in our lives, without the bottom dropping out on us on so many occasions. Even with adoption, the night before we were to go and pick up our baby, we learned that Danielle (birthmom) was "wavering" and wanting to parent Libby. Talk about the bottom dropping out! When I talk about what we have been through, I mention infertility, adoption and prematurity. I feel guilty lumping adoption in there, because obviously it was a blessing and I can't imagine life with out my Libby. But it still was and continues to be the more difficult route to having children. Believe me I've done both and I would much prefer nine months of pregnancy. There are so many unknowns for us with adoption and the knowledge that Libby will most likely go through a grieving process of her own. The one positive thing about adoption is that Libby has a chance at being athletic by not inheriting her mom and dad's skills (lack of-sorry Mark).
When I was pregnant with Nathan and after he came, we thought we were having a child who would look like us. Once he was here and did look like us (mostly me), who would ever think that could be taken away? But for us it has been. He is not going to look like us. He is going to look like a boy with a genetic syndrome. He is not going to be the son we had pictured and certainly not the life we envisioned for him. We are the parents of a little girl who is adopted and a boy with a syndrome. Let all the party guests know when we are coming that our son has a syndrome and our daughter is adopted. We want everyone to be prepared to pretend we are typical family. We will be like the elephant in the room.
I know that others are struggling with things of their own too, some smaller and some bigger. The smaller ones are just as big to those people because it is all subjective. I am not trying to say that I am having a harder time than any other one person. I know that life is hard, but this is my place to vent and save money on therapy. I certainly understand if people tune out when they become annoyed with my complaining. I get tired of hearing myself complain. The blog really does help me though. It helps me put a smile on my face and do all the things I do for Nathan and Libby during the day. Otherwise I think I would explode.
The feeding clinic at CHOP can see Nathan on Monday at 10:30. I don't know what they do, but it is a two hour appt. My friend Susan (Nicholas' mom) is watching Libby for me while I take Nathan. She has been a huge help with Libby during all Nathan's appts and Libby loves Nicholas!
11.01.2006
halloween
the llittle bumble bee. he wasn't too into trick or treating. His favorite things were the firefly flashing light that Miss Karen (our neighbor) got him, the "grass" on the side of his wagon and his sister's antennae! She was a ladybug. He was a trooper though and didn't fuss. he loves his wagon!
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