cardiologist

so the cardiologist appt was on tuesday and i still have not written that it went great. I am noticing that I am quick to write bad news on here, but good news takes me a bit longer to get to. What is that about? I guess I don't want people to think we are out of the woods yet. Anyway, the appt went well (unless you ask Nathan who was very annoyed with the sticky things) They did an EKG and ultrasound and said it looks like everything is in working order!! That is a relief.

Also, we had a team meeting last wednesday with the Nutritionist, Teacher, Service Coordinator, Physical Therapist and Occupational Therapist. They said he really does not qualify for services any more since he does not have a 25% delay in any area. They reduced OT to monthly, teacher to biweekly and PT is still weekly. The nutritionist just started and is monthly. It is very exciting and scary. I think he is doing great developmentally especially when they reviewed the initial goals from one year ago when we wanted him to sit up and crawl! They asked me what my goals were for the next three months for him which is really difficult to say. I truly don't know because it is hard for me to notice what he can't do. For example, one day I noticed that he couldn't get in and out of his booster seat, get on his rocking horse or sit in a kids chair--I mentioned it to PT and OT and they taught him!! Just little things you take for granted that kids do. Then I noticed that he cannot touch his shoulders! I pointed this out at the meeting and the Occupational Therapist tried it and said he has no "supination" meaning turning your wrists out with your hands flat. Who would notice these things??? Anyway, OT said he can live without supination with no problem--not that I was going to lose any sleep over that one anyway.

Thank you to all who have been praying. It is working! As Mark says , 'All of a sudden I am enamored with him' He's so funny these days, lots of personality and I love that he can get around like a little toddler--much more interactive than the baby stage.

Livia called...

Livia Medne from CHOP called yesterday. The collagen gene tested as normal. That was the bloodwork that tested for Acrogeria. This is pretty much meaningless. If it were positive he would have acrogeria, but only a small % of people with Acrogeria have the collagen gene change.

The x-rays show more defined acroostyliosis in his fingertips; however, she stated that his bones are not being eaten away or anything. His long bones are all good which is good news. She could not remember anything about the teeth in the front (she was driving) so she said she would call me today after looking at the x-rays again.

what else....Livia said they sent his information to the National Registry for Skeletal Dysplasia. Although they do not believe he has skeletal dysplasia (dwarfism) they would like their genetics counselors to review his info in case CHOP is missing something.

I asked if Progeria is ruled out given that in Dr. Yan's letter he stated "a progeriod syndrome." Livia said that he does not have progeria because they tested all parts of the Lamin A gene. Dr. Yan is concerned that he may have something related to Progeria and is still concerned about his sclerodermoid skin changes.

Livia is still leaning towards Pycnodystosis. She mistakenly said "rooting for" and then changed her words. Mark's original impression in September that Dr. Yan was focused on Progeria and Livia was focused on Pycno. seems to be accurate. She is still waiting to hear from Portugal to find out if Mark and I are carriers for Pycno. She emailed them again yesterday.

I asked if a fatal disorder had been ruled out and it took her a long time to answer. She said she cannot say 100% that a fatal disorder is ruled out, but it is not looking that way right now. My impression (though maybe wishful thinking) is that she wanted to say yes, a fatal disorder is ruled out, but she cannot for obvious reasons.

that's it I think, nothing earthshattering. good news that his long bones are good. They are concerned about his weight too. She said the cardiology appt should give us more information to piece together. She also said he is "an adorable little guy!" She was very patient as usual while I got all my questions out and tried to understand the information.

bloodwork results

We received a letter on saturday saying that Nathan's blood work was within the normal limits and thus does not provide cause for the "spoon-shaped" nails. It feels like another dead end and really bummed me out. Especially since the day before we had gotten the letter sumarizing our 3/30/07 visit which included a detailed list of all the things afflicting Nathan including, wormian bones, acroostolysis (reabsorbtion in finger tips), delayed dentition, translucent skin, clubbed fingers, sclerodermoid skin changes, cerebral palsy...... It feels overwhelming when you think about it all. I don't want to find out the results of the x-rays because I know he probably got worse. His fingers look much more clubbed. Aside from all these things, Nathan so very normal which makes it even weirder. He is walking, talking, throwing tantrums, hitting...all the things he should be doing. He follows two step directions and knows exactly what is going on. Today he even helped Libby and me make Snickerdoodles (rolled some cookie dough). His appearance is the only thing that gives him away and that continues to be difficult for me to deal with. I wonder if he will look increasingly different as he gets older. When he was an infant you could not tell that anything was wrong with him and it was when he was four months old when the ER dr. first mentioned something about a genetic disorder soley based on his appearance. Will it continue to become more defined.

Also in the letter, Dr. Yan indicated that Nathan appears to have a Progeroid Syndrome. I don't even know what the spectrum of Progeroid Syndromes are, no one can really tell me and it is certainly not information found on the internet. I guess the bloodwork was one more little step in letting go. If it was something nutritional that was causing all of these issues, we could fix that, but a genetic disorder is lifelong. It reminded me again that this is not going away, that Nathan has a lifelong genetic disorder and our lives will never be the same. He is not normal and is not going to be normal. I just want to be happy again, so if you are still reading and still praying, please pray for me to not be sad about Nathan's appearance, his clubbed fingers and his size. I expend so much energy trying to not let little reminders of it bother me. I'm exhausted. I love him so so much, I just want him to be normal. Please pray that I will break out of this slump. I want our family to be able to move on in whatever way God chooses. With repeated dead ends and ambiguous results it gets discouraging. Please pray for me so that I can get back to being happy again, living again and being a fabulous wife and mother again. I guess I was only happy for about 9 months between infertility and Nathan's failure to thrive, but maybe next time will be longer. I feel selfish asking people to pray for me, but in the end it will benefit my family so I guess it is okay.

And He's Off!!

Nathan is walking! He started sometime between 3 and 3:30PM on Monday, just decided to let go and that was it! He still looks like Frankenstein and it is slow, but it is very exciting. I am very happy. I don't even think 18 months (adjusted) is all that delayed for walking. Over the weekend Mark and I had bribed him with spoonfuls of ice cream for walking back and forth-maybe it was that practice that got him moving. He'll do anything for Mint Chocolate Chip ice cream. Just wanted to let everyone know. I wanted to let you all know earlier in the week, but I didn't want to jinx it.