Snow!!

So between snow days and sick days I think I have worked one day in the month of February. It has been a crazy month with all the snow!

Not much new and exciting here. Bennett seems to be feeling better. I have to take him back tomorrow for a re-check of his ear. He hasn't pulled up again since that one time. He seems like he is trying to crawl when he is on his belly, but he just can't get that head and chest off the ground. In the eating department, he prefers table food rather than his baby food. Sometimes he'll even refuse to eat the baby food. The problem of course is finding things he can eat while he still has no teeth. Mark and I are both ready for him to move on developmentally. He still won't or can't hold his own bottles!

After a couple snowstorms, I finally got Bennett out in the snow for the first time. Actually I managed to get four kids dressed and out in the snow. Libby had a friend over and they wanted to go out. Fortunately Mark got home from work shortly after I got them outside. as you can see by the photos, Bennett likes the snow as much as he liked the ocean. Perhaps he is just not an outdoor person! Yes, I know he has no mittens on. Did I mention I took four kids out to play in the snow?

busy day!!

We had another busy day today. The good news is, Libby's heart is fine!! There are no problems whatsoever. She had an EKG and an Echo and both were normal. I am so relieved. Apparently my denial worked so I may have to try that technique with the boys!! They are fine!! Healthy!!

Court was also fine. I just had to testify that I was okay with the charge of reckless driving that were made against the kid were lowered. His mom was there and they were both so sweet. Mark said I am a softy and it's not fair that he didn't get any points on his license when he (Mark) has gotten points for speeding tickets in the past. I know Mark would have done the same thing. This is the guy that recently gave a complete stranger money to get a taxi at the airport. The judge in the case was missing most of his ear and unfortunately I could not take my eyes off of it the whole time!! I kept thinking what a horrible person I must be!! How could I, mother of two special needs kids, who doesn't want anyone staring at her kids, how could I be so obsessed with this poor guys ear? Maybe that is what I am worried about. Perhaps I realize that regardless of who we are and where we have been, appearance is often all we see.

From 1 to 3:30, I helped at Libby's school for tin the art room. They made mosaic tiles and we helped them put in the grout. It was really fun, messy but fun. One of the classes was a kindergarten class so of course it caused me to imagine Nathan in kindergarten. Some of those boys are rough!! A couple boys managed to run at each other and collide on purpose, both falling to the floor! I know that is how typical boys behave, but I often forget. I'm fine with missing that part of a typical boy by the way. Now with Nathan and thereafter Bennett, his peers will just know they can't do that with him. I really think he will be fine in public school. With his personality, he is hard not to like. Yes, he will be that special kid but I think he'll be okay. For me I think the anticipation of it all is the worst part. It makes me almost wish it was this fall rather than one more year.

Gender Reassignment....

Nathan's favorite bear, formally known as "Baby" is now "a her" and her name.......Taylor Swift!

Every night before bed, our conversation goes like this

Nathan: Mommy can you check on me fwee times?
Me: Yes as long as you are being good and not coming out of your room.
Nathan: And when you check on me fwee times can you rest with me?
Me: Not tonight
Nathan: Can you say, maybe?
Me: Okay maybe.

Tonight I told him I thought he might be asleep by the time I check on him because he seemed pretty tired. Nope, he was not tired and he was planning to read a book to Taylor Swift and give her a bottle. I went to check on him about 5 minutes later and this is what I found. And yes, he is alive! (Taylor Swift is under the book)

Okay, I'll say it...

Nathan has not fallen recently. I've been afraid to say it, but he has not had any catastrophes lately; up and down stools, hoisting himself up on his arms to get a drink from the bathroom faucet (a must see as he is so small, he's horizontal!) and stepping up and down the back steps. It has been nice and has me relaxed a little bit.

Bennett is still not back to being himself. Yesterday Mark got pretty frustrated with his need to be held constantly. This made me feel a lot better as I was pretty exhausted from it all week. Seeing that it wasn't just me made me feel better.

Tuesday is Libby's echo cardiogram with Dr. J. Mark is taking her as I have to be in court to testify against the kid who rear-ended me. I'm not sure what he is being charged with or what information I am supposed to bring to light. It did turn out to be a much more expensive repair for my car than originally anticipated. It was $3000 worth of damage when the adjuster had estimated $900. After 3 weeks at the collision place, they told Mark they were done painting and now had to 'put it all back together.' Not something you want to hear about your car but I am happy to have it back in one piece now!

I am asking for prayers for Libby on Tuesday. I don't envy Mark in the least. I took her for blood work and an EKG and the anxiety was not pretty. And of course if you could continue to pray for miracles for our boys that would be appreciated too.

Bad Day

I guess they are going to happen, but I had a very bad day today. Some days I just end up thinking too much, wondering too much and wishing that things were different, that my boys were normal. What would they look like? What was Nathan supposed to look like were it not for this disorder? How much different is Bennett's appearance than it would be if he did not have Progeria? How tall would they be? Would Nathan be as tall as Libby? Would he be into sports? I try to imagine them having smooth skin, full bodies and mouths full of toddler teeth. Would our lives be easier if Nathan could go up and down the steps and Bennett could walk around or crawl (well maybe not). Then on the Olympics they did a segment about 4 and 5 year old girls who ski together. Hmm I can't imagine Nathan skiing anytime in the near future. And where does all this get me? Nowhere but in tears. It seems that I get so used to my kids and their appearance and capabilities that I forget how different they really are from typical kids. Then when I remember, it knocks me for a loop. And the loop seems to have no bottom. The thoughts seem to roll in, one more negative than the last. If this medication does work, that still means they will be on medications for the rest of their lives and that will have it's own set of negatives. As the thoughts come rolling in, I become more and more hopeless. I feel guilty that our families have to deal with having special needs grandchildren and nephews. I wish we could have had healthy kids for their sake and wonder if they are resentful of me. I wonder if Mark ever wonders if he had married someone else, would he not have to deal with all this pain. These are just some of the thoughts and yes there are more.

I hesitate to publish this blog because it is embarrassing to show how dark things really are some times. I don't want people to treat me differently because of this dark side. We will all just pretend I am happy and hopeful! The reason I will publish this is in hopes that someone, even one person can read this and not feel so alone in the midst of whatever pain they are experiencing. I love people's happy and hopeful blogs and stories but I have often wondered why I feel so different. So here it is, in hopes that there are some more "different" people out there who will be able to identify with me. I know I will have better days and the better days become more frequent as time goes on. These bad days are just part of going through the pain.

sickness

AM: Bennett has been sick all week. Monday he had a fever of 103.2 and Tuesday a fever of 101. Since Tuesday he has not had a fever but has just been miserable. It means alot of carrying him around and snuggling. I feel guilty looking at my loads of laundry waiting to be folded, but I have to remind myself that snuggling kids when they are sick is part of my job description!

PM: I just got back from the pediatrician's office and the P.A. (Physicians Assistant) said he has an ear infection. He actually had one two weeks ago and finished antibiotics a few days ago. It must not have been completely resolved so now he is on a stronger antibiotic. It is really scary when babies are just miserable sick. He is normally pretty pleasant but it has been tough to make him smile this week. Even Libby has gotten very few smiles and she is his favorite. He has had a permanant furrowed brow this week which had me really worried. I am hoping he feels better soon. At dinner he had a little bit of the spark, wanted some ice cream and shook his head no when Libby turned on the loud music!

Bennett likes Oreo cookies!

Facebook

I may need to get off of facebook. When I go on to check what others are doing, I often get distracted and start looking at people's pictures. Then I see that everyone else from high school and college went on to have healthy biological kids. I'm sure some of them have had struggles but of course nothing compared to what we are dealing with and nothing that can be seen in photos. Then there are the babies that are younger than Bennett, walking and three times the size. There are 2 year olds doing things we dream our 4 year old could do. Why do I torture myself? I don't know the answer.


Everytime I get down lately I pull myself up by thinking that this treatment will work and change the course of this disorder. We are so lucky to have hope. I mix that medicine and imagine my little guys' hair growing thick and full, skin smoothing itself out, teeth peeking up through the gums and the tightness in their joints loosening. I know they are going to get better.

It's a boy!!

Bennett got a haircut and finally looks like a boy! Mark took all three kids to Hair Cuttery on Sunday and got them all haircuts! I can hear my mom saying now, 'Aww bless his heart.' Yes he is quite the husband! Libby wanted her hair cut short so here it is.... All the curl is gone but she looks adorable of course. Nathan's is not much shorter so I didn't include a picture of him.

I wanted to mention another thing that happened last week.....when I was at the pediatricians office for Bennett's checkup, there was a woman in the waiting room with two little girls. The youngest was probably 18 months old and carrying a blanket which was dragging on the ground between her feet. I said "oh she is dragging her blanket. I don't want her to trip." The woman snapped, "she won't." Whoa!! Another mother in the waiting room heard her response and expressed her disbelief when the mom was out of earshot. I have no idea what this woman could have been dealing with at the time but I felt sympathy for her. Here she was with two seemingly healthy kids and she is that miserable and angry. On my worst days I don't think I would respond to a stranger that way. I would much rather have my kids and all their issues than to have healthy children and be that miserable. It was just another reminder for me that it is my choice if I want to be happy. Yes our circumstances make it difficult to be happy some days, but having healthy children, money, success etc. certainly does not guarentee happiness.

Another snow day tomorrow!!

Bennett sleeping

This is Bennett taking a nap today. He sticks his butt way up in the air and wiggles it while he is sleeping!

Todays highlights...Mark had to chase a bird out of our kitchen. It flew in from the back porch where they are trying to escape the snow. Bennett pulled himself up at the train table. He did not have his feet on the ground. They were flat vertical against the side of the train table. It was pretty exciting! Maybe he has incentive now seeing how much fun stuff is up there on the table! Oh, and Bennett got shocked.

Yes, Bennett got shocked! He put the end of my computer cord in his mouth and the other end was plugged in to the outlet. He didn't cry long but it was definitely a different cry. So then we were trying to figure out if we needed to seek medical attention. I suggested that Mark put the end of the cord in his mouth to determine what Bennett experienced. He eventually caved and did the experiment. He said it did not really hurt so that made me feel better. In addition we consulted my sister who works in a pediatricians office, the internet and our neighbor who happens to be an emergency room doctor. My sister was not sure. Apparently this doesn't happen all the time. On the internet I learned that 500 volts is considered a serious shock and the computer cord is 9.5 volts. Dr. P was very kind to respond to my hysterical message and said as long as there were no burns on his tongue (there were not) he will be fine. He said that household electronics typically do not have enough voltage to cause serious harm. Good to know! That is probably why I survived the shock of accidentally cutting the christmas tree lights this year!

My week

I am so glad this week is over! It was an interesting one. It started out with an appointment for Libby with the psychiatrist. She is really struggling in school and we thing that much of it is due to her inability to concentrate and focus. So back in October I tried to schedule a psych eval but first had to schedule with a therapist who took all of our information. Then it took a month to schedule with the psychiatrist where we repeated the information. She agreed that she thought Libby could benefit from medication. This was based on our report, the teacher's report and Libby's inability to sit still for the half hour doctor visit. But she would not prescribe anything until we got an EKG and bloodwork for Libby. So that involved getting a prescription from the pediatrician, scheduling and completing both appts, contacting the pediatrician to make sure the information was forwarded to the psychiatrist and then rescheduling with the psychiatrist. So when we went back a month later with the results, there is a problem with the EKG. The psychiatrist called Dr. Lockman who called his cardiologist friend. Dr. L called me and told me that apparently it looks like Libby has a thickening of the wall of the bottom right quadrent of her heart. He said that 99 times out of 100 this is just a false read from an EKG but in order to rule out that 1 in 100 chance, we have to schedule an echo for Libby. The good news is that it is perfectly safe to start the medication, but we did schedule an appointment with the cardiologist. I can not worry and I absolutely cannot google. I threw away the paper that had the exact medical terms on it so that I do not google.

So then when I went to get her medication, there were insurance problems and I ended up going back twice before it was filled. There were all kinds of other little setbacks this week some of but that was the big one. It seemed like everything I tried to do this week either led to more appts or remains undone. So when the computer system shut down in the middle of my transaction at the post office and they locked us in the post office (with Nathan and Bennett) I was not at all surprised! And the icing on the cake was the cashier at the grocery store announcing that "this lady needs help out to her car" and everyone in the front of the store looking at me! That was the first and last time I say yes when they ask if I need help out to my car. Who knew their system is to bang on the window and yell to the guy pushing carts?

The week ended very well though. Libby came running off the bus yelling, "I lost my tooth Mommy." It was so sweet! Of course it was followed by me worrying that those milestones might not happen with the boys but I pushed that down and celebrated with her. She was sure the tooth fairy would come because "she flies you know" Yes the tooth fairy came and Libby was disappointed that she only left $1! Hello??? Do your realize that when I was a kid....

memory lane

I was looking for an email address for our pediatrician and got 'astracted' as Nathan would say. I found an email with a conversation between myself and a representative from Boston. I thought it was interesting and wanted to share. The bold portions are mine. The first two are after Bennett was born and the rest is prior to Bennett. I know it is long, but after reading it I realize what a long road it has been and how we really are in a better place now.

Sent: Thursday, September 03, 2009 10:08 PM
Below is an email exchange we had several years ago. At the time I was inquiring about my son Nathan and other possible progeriod syndromes in addition to Hutchinson Guilford. Since then we had a second son, Bennett who began displaying the same symptoms. In February, CHOP was able to determine that indeed they have a progeriod syndrome,Mandibuloacral Dysplasia. I know that Livija Medne & Elaine Zackai have been in contact with you regarding our situation and possible treatment. Last week we went to Texas and met with Dr. Garg and his team at UTSW.He is indicating that possible trials of the medications would be atleast a year away. Dr. Garg said it is most likely that PRF would notwork with us due to the boys not having classic progeria; however, he understood our desire to contact you and ask. I want to know if Bennett and Nathan could possibly be enrolled in some kind of trial treatment sooner than a year from now. Bennett is 8 months old and as cute as can be. I feel so helpless knowing that his appearance will change over the ourse of the next yearand there is something out there that might help him. I am including pictures of Bennett and pictures of Nathan's progression from age B-3.5.We have all had two skin biopsies, one time at CHOP and once last week in Texas. I believe that CHOP sent those to you but I am not sure.I know you are busy with the Clinical Trials and appreciate your time.

Sent: Thursday, September 17, 2009 12:00 PM
Dear Phyllis, I am so sorry. I do not check my AOL account any more. Please use my university account to write to me in future. I remember your son very well. I'll be more than happy to speak with you by phone. I am available next Tuesday if you have time. Please let me know, and we can set something up.Very Best Regards,

In a message dated 9/25/2006 6:32:09 P.M. pafalcone@hotmail.com writes:

Hello-Thank you so much for getting back to me so quickly. We are so confused. Nathan has dysphagia, hypertonia in his legs, hypotonia inhis trunk, significant developmental delays, mild cerebral palsy, wormian bones in the posterior fontanelle, micrognathia (sp?), low set ears, high palate, no teeth yet (13 months old), failure to thrive, reflux, tight skin on his legs and visible veins in head and torso. X-rays confirmed acro-osteolysis in fingers and toes, genetics also observed clubbing of fingers and toes. A skin biopsy revealed sclerodermoid skin changes. Children's Hospital of Phila.was sure that he had Progeria. The initial blood work results rule out"classic" progeria which I assume is the Hutchinson-Guilford Progeria. They are are now testing the blood work for other types of progeria. My question is, are the other types fatal and progressive as well? We just want to know what we are dealing with. Also, what are the chances of this happening again if we have another child? Also, if Nathan does have something other than the "Classic Progeria" would he still qualify to participate in drug trials for progeria? We are so confused and upset as you can imagine. Any questions you can answer for us we would appreciate-we just can't believe this is happening. thank you Phyllis Falcone

Date: Mon, 25 Sep 2006 20:35:15 EDT
It's so hard not to know what is going on with your precious child. If Nathan has a different progeria, we'll have to wait and see what the analysis says. Then we can see if we've ever seen a child with that same mutation and perhaps tell you a bit more about what might happen with Nathan. Then we'll also be able to analyze the potential for the drug trial. I wish I could give you better answers, but that's all I have right now. It sounds like you have good and caring physicians helping you. Please keep me in the loop with the analysis, and I'll help in any way I can. If you'd like to send me photos by email, we'll keep them strictly confidential.

In a message dated 9/25/2006 9:35:32 P.M. pafalcone@hotmail.com writes:
I know you can't answer my questions, I thought I would try though. I can send some photos in the next few days. I know that looking tons of things up on the Internet is fruitless too at this point, but I can't seem to help myself. I am looking for any sign that this could all be a big mistake, but I'm sure not. I think I was better when we thought it was classic progeria. Like you said at least you know what you are dealing with and can proceed. Thank you so much for responding so quickly and being so kind. The physicians at CHOP have been a bit insensitive. I feel like Nathan is a science experiment, but I know they don't see kids like him often. I also understand that there is no protocol for telling a parent that their child has a fatal disorder, it doesn't come up that often. Thanks again, Phyllis

Date: Tue, 26 Sep 2006 08:38:30 EDT Glad to help. I'm ccing my coordinator, so that they are in the loop on our progress. Let's take a look at those photos and see what happens in the next few weeks. Best Regards,

In a message dated 9/26/2006 10:16:28,pafalcone@hotmail.com writes:
What types of pictures would be most helpful for you of Nathan?Also-can you at least tell me what disorders/syndromes a "different progeria" includes. I'm sorry for being a pain-I just can't stand not knowing what is going on with my son. Thank you Phyllis

Sent: Tuesday, September 26, 2006 10:19 AM
You should send me anything that shows his physical signs.There are syndromes that are very rare that fall under the progeria category but that don't have their own names. It's hard to say what Nathan has at this time. Best,

In a message dated 9/26/2006 10:33:31 A.M. pafalcone@hotmail.com writes:
I can't manipulate you into telling me anything??? just kidding-I understand. I'll try to get pictures to you by the end of the week. Also-do any parents go on to have other children after having a child with progeria? I know it seems like it should be the last thing on our minds, but it is in the back of my mind. Thanks Phyllis

Date: Tue, 26 Sep 2006 10:39:01 -0400
Yes, they do, but we need to see if you can get a genetics identification first (which may or may not happen)

There are similar letters to other professionals like Livija and Dr. Garg. I know I didn't quit my job and raise millions of dollars to find a treatment for my kids like the guy in Extraordinary Measures but I am proud of myself for advocating for my family.

check up

Bennett had an uneventful 12 month check up today. After waiting for an hour, we finally saw Dr. L who brought along a medical student. He asked if I would kindly go through our history with her and I politely declined. I asked that he tell her 'the story' which he said he would do at a later time. Anyway, our Bennett continues to hang out at 15 pounds. Dr. L didn't even give me growth chart info because he said it doesn't matter. He wants to talk with the Doctors at Boston which is great because I want him to be involved. While waiting with my naked baby for an hour, I took a picture of him with one of Libby's headbands on his head. He looked so cute! I really need to figure out how to get pictures off my phone so I can share them. I took one of Bennett and Nathan side by side in the grocery cart a few weeks ago that I would love to share too.

Sometimes I still can't believe that two of my kids have Progeria, that they have a fatal disorder. I hope everyone is still praying for a miracle. My father said it really well when he said that he is praying for a big miracle but will take small ones too.

Weekend

We had a busy weekend, Nathan had a birthday party on Saturday at the fire station. They got to go for a short ride in the fire truck! Mark took him but I was there for one at the same fire station last year and they do a really great job. For a very small fee, they supply the space, a fire safety demonstration and weather permitting, a short ride on the fire truck. Nathan would like to have his there in August. Knowing our luck there would be a call in the middle of the party and all the kids would be traumatized! It would be memorable though.

Saturday night we took our three kids (one with a cold) out to Dave and Busters in the snow. Really it was just a dusting but we did feel a bit guilty. The kids had a great time. We met friends there and played skee ball, played air hockey, drove race cars and ate dinner. There weren't too many things our kids could play. Chuckee Cheese is definitely more child friendly, but when I asked if Dave and Busters was any better than Chuckee Cheese, Mark held up his beer and said, "ten times better!" It does feel strange going to buy a beer while holding your baby but oh well. Next time if we went back I think we would go during the day. In crowds like that it is difficult to make sure Nathan doesn't get trampled because he is so small.

Speaking of small...I measured Nathan the other day to see if he is big enough for a high back booster in the car. The good news is that he is big enough. The bad news is that his height is the same as Libby's when she was 18 months younger than he is now. That doesn't sound that bad except when you consider that Libby is in the 25% for height and is markedly shorter than all the kids in her class. That was difficult for me to swallow. Earlier in the day I had tried to pull something out of Bennett's hair and a big clump came out in my hand. I wasn't that upset about that but for some reason the height thing really bothered me.

Nothing else new and exciting. Sunday was church and then visiting Pop Pop Falcone who is recuperating from a partial knee replacement. This afternoon Bennett has his one year check-up. I took him on Friday for his cold and the doctor put him on antibiotics for his cold and a slight ear infection.