Nothing much new and exciting. Nathan has a busy week scheduled. Tonight he has the sleep study at Temple Children's Hospital. Mark is taking him down as he felt it would be safer for him to be in North Philly overnight (aww he does love me) Tomorrow he has PT and the nutritionist. Thursday he has an appt with the GI doctor, who is sure to admonish us (me) for missing his last appt and taking a long time to reschedule. It's just that after a while, when nothing comes out of these appointments, you get a bit lazy. We need to call Livia and bug her, but it never feels like a good time to call and I always end up talking myself out of calling. --Do I want to call? Do I not want to call? Is it going to confuse me even more? Is it going to ruin my day? I'm calling now and holding....left a message. I feel sick to my stomach when I call.
Anyway, Nathan is as happy as ever. Loves to listen to my new Sam Cooke CD in the car (Cupid, Chain Gang) He chimes in with the end word of every verse, you know bowww, cryyyyy-it is really cute. Some woman in the post office last thursday told he looked like a very special little boy which put me out for the rest of the day (okay maybe two). I just wish he looked like every other almost 2 year old. I spend most of my time worrying about how he looks, wondering what others think-like it is the elephant in the room (what is that phrase?) and wishing he looked normal. Then I think what a horrible person I am for being so superficial. Or maybe it is just that the older he gets, the more different he appears, solifying that this is not something that is going to go away.
By the way-Ryan's mother (the little boy with Hadju Cheney Syndrome) asked me to send her pictures of Nathan's fingers and toes. This sounded very easy, but turned out to be very difficult considering how much a 21 mo old child moves. Anyway, I emailed them to her and she said "I would almost guarentee they diagnosis him with HCS" Even though he has more of the symptoms than any other disorder, I just don't feel like he has this! My instincts tell me it is not HCS and I don't think he looks similar to Ryan. I was also sure he had Progeria though so my motherly instincts may be broken. We will let you know how tonight goes.
5.17.2007
Hadju Cheney Syndrome
So Hadju Cheney Syndrome (HCS) was one of the 4 disorders mentioned on our 9/11 visit to CHOP. Recently it has come to the forefront again as a possible diagnosis due to Progeria being ruled out. Mark and I looked up the symptoms and Nathan fits them to a tee with the exception of the sclerodermoid skin changes which are not explained by HCS. I emailed a woman who has a son with HCS, their website is often the first to come up when HCS is googled (Ryan). We exchanged emails after the September appt, but then I didn't think that was what Nathan had. I emailed her again, asking if HCS is progressive, fatal and is there a test to confirm the diagnosis. She responded a few minutes ago and the answers were all the opposite of what I wanted. Yes (it is progressive) Yes (it is fatal) and No (there is no test, diagnosis is only made through eliminating other disorders). I just feel sick in my stomach, literally sick to my stomach and like I can't breath. I do not want him to have this. What if he does? I thought a fatal disorder was 99.9% ruled out! They haven't told us he has this, but the most recent letter as you may have read indicated that findings from the x-rays point to HCS. They were wrong about Progeria, please pray that they are wrong about this too.
I am just so fed up with not knowing what he has. I feel like my brain is going back and forth like a ping pong ball. What about Libby too? How is she going to handle all this. And about his appearance...I know I need to accept that he looks different, which I am doing, but what about everyone else too. It just hit me on Sunday in church (when Rev. Kemp prayed for all mothers including mothers of special needs children) Anyway, it hit me that my acceptance of his appearance is only a small part of the battle. What about his peers? What about when they start noticing? How can I send him into social settings like school? Anyway-please pray that it is not Hadju Cheney Syndrome. At the risk of sounding like I am in denial, a little part of me is still hopeful (or wishful) that Nathan has something that is causing all of his issues, something fixable, something that will make it all go away. So far though everything like that has been ruled out, nutrition. cardiac, allergies etc. But I also know that God is capable of that, of making this all go away. I guess I am sounding like a crazy desparate mother. Maybe I am.
I am just so fed up with not knowing what he has. I feel like my brain is going back and forth like a ping pong ball. What about Libby too? How is she going to handle all this. And about his appearance...I know I need to accept that he looks different, which I am doing, but what about everyone else too. It just hit me on Sunday in church (when Rev. Kemp prayed for all mothers including mothers of special needs children) Anyway, it hit me that my acceptance of his appearance is only a small part of the battle. What about his peers? What about when they start noticing? How can I send him into social settings like school? Anyway-please pray that it is not Hadju Cheney Syndrome. At the risk of sounding like I am in denial, a little part of me is still hopeful (or wishful) that Nathan has something that is causing all of his issues, something fixable, something that will make it all go away. So far though everything like that has been ruled out, nutrition. cardiac, allergies etc. But I also know that God is capable of that, of making this all go away. I guess I am sounding like a crazy desparate mother. Maybe I am.
5.08.2007
There is nothing new with Nathan-but I have not written in a while so I thought I would update you. I've received several complaints that there is nothing new on here. We got a letter last week from CHOP explaining most of the stuff we already know which is that we don't know anything. The letters always send me down with all the reminders of the definitive things that we do know are wrong with him.
Impression of the Skeletal Survey reads as this:
"Predominant features of wormian bones and acroosteolysis favors a diagnosis of Hadju-Cheney Syndrome. Other syndromes that share these features are cleidocranial dysostosis, pycnodysostosis however other characteristics are not presnt. A few others to consider, although less likely are progeria, acrogeria and mandibuloacral dysplasia. "
Findings from the x-rays indicate ribs, clavicle, pelvis, mandible etc are all normal. "There are marked widening of the sutures. There are extensive wormian bones along the lambdoid sutures bilaterally. There is a suggestion of deepening of the sella tursica." That last one, sella tursica, I need to look up.
Anyway, Libby and I have the stomach bug so Nathan is at Mee Maw Falcone's house so we can hopefully avoid having him catch it. He still weighs 18 pounds, last I weighed him and that is down a little bit. He is just getting over a cold and does not need something else. Libby didn't eat anything all day yesterday. I get really down when he is not with me. I want to go get him, but it seems silly to risk him getting sick.
This is slightly off topic, but I have to vent. I received an email today from Libby's birthmom that she will be coming to the annual adoption picnic with her 14 month old son who weighs twice as much as Nathan. It seems like an experience that is more than I can bare. It seems like more than a human being should be subjected too. Maybe I am being dramatic, but I did everything right during my pregnancy. Being reminded that Libby has a biological family is painful enough and now we have to deal with her biological brother who is healthy and well when my Nathan is not.
Impression of the Skeletal Survey reads as this:
"Predominant features of wormian bones and acroosteolysis favors a diagnosis of Hadju-Cheney Syndrome. Other syndromes that share these features are cleidocranial dysostosis, pycnodysostosis however other characteristics are not presnt. A few others to consider, although less likely are progeria, acrogeria and mandibuloacral dysplasia. "
Findings from the x-rays indicate ribs, clavicle, pelvis, mandible etc are all normal. "There are marked widening of the sutures. There are extensive wormian bones along the lambdoid sutures bilaterally. There is a suggestion of deepening of the sella tursica." That last one, sella tursica, I need to look up.
Anyway, Libby and I have the stomach bug so Nathan is at Mee Maw Falcone's house so we can hopefully avoid having him catch it. He still weighs 18 pounds, last I weighed him and that is down a little bit. He is just getting over a cold and does not need something else. Libby didn't eat anything all day yesterday. I get really down when he is not with me. I want to go get him, but it seems silly to risk him getting sick.
This is slightly off topic, but I have to vent. I received an email today from Libby's birthmom that she will be coming to the annual adoption picnic with her 14 month old son who weighs twice as much as Nathan. It seems like an experience that is more than I can bare. It seems like more than a human being should be subjected too. Maybe I am being dramatic, but I did everything right during my pregnancy. Being reminded that Libby has a biological family is painful enough and now we have to deal with her biological brother who is healthy and well when my Nathan is not.
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