We didn’t expect to get a final diagnosis so soon but the pediatrician just called and the diagnosis is the most severe possibility. Ali has Costello Syndrome. The chance of having that particular syndrome is lower then the chance of winning the lottery. We love her very much and we’ll deal with whatever is to come but right now I’m not sure how we’re going to deal with this. I needed to come here first and post this because I’m not even sure how I’m going to tell people and this way I don’t have to. Sorry for anybody who would have preferred not to find out this way but this is the best I can do today. The pediatrician told me plan for the worst and hope for the best. Right now, I don’t feel a lot of hope.
Monthly Archives: September 2014
A Giggle. Originally Posted April 20, 2010
Ali had a pediatrician appointment last week. It was pretty uneventful though. The doctor is still relatively sure that we’re going to get a pretty severe diagnosis for Ali but he agrees that developmentally she is far ahead of what he had expected. So I guess time will tell. We don’t expect the test results for at least another couple of months.
We have made the decision to remove Ali’s NG tube and for her to have surgery to have a tube inserted directly into her stomach. We think that in the long run the G tube (Gastric) will be better for all of us. It kind of feels like we failed. We had every intention of teaching her to eat and a G-tube was not part of the plan in my mind. But here we are. She is on a waiting list and we are expecting to wait a couple of months for the surgery.
Ali continues to spit up like crazy. Her wait gain has pretty much stopped in the past month which is concerning but thankfully we had her fattened up pretty good for a while so she has some fat reserves to burn off. She has grown a bit in length which is encouraging and is probably the most important measure of growth to us currently.
She is still not making much progress with the bottle feeding and we’re wondering if the NG tube has anything to do with that. I guess we’ll see.
Ali giggled yesterday! It was so cute. It wasn’t a full belly laugh by any means but it was pretty clearly giggling and it happened a few times! She was so beautiful laying there smiling and giggling. It did my heart good to see her act like a “typical” healthy little girl. That’s huge for Ali and we are very excited!
A Cold Can Be Scary! Originally Posted April 2, 2010
We had a little scare with Ali this week. She got her first cold and she really struggled with it. We ended up in the ER because the pediatrician was concerned about her symptoms. His worry was that the symptoms of a severe cold mimic those of congestive heart failure. With Ali’s history CHF was a possibility. BUT in the end it was a cold and now she seems to have recovered from it after being treated for it. Can you imagine being treated for a cold? What service! I guess that’s the kind of thing we have to get used to. With a medically fragile baby you just don’t take any chances and since we’re not doctors we have to be safe and take her to the ER when in doubt.
Since dealing with her cold Ali refuses to even attempt to bottle feed or suck on her soother so it’s been a real set back in that regard. ve lost most of the progress we made. We’re pretty much starting over again on the feeding therapy and she’s not making any progress right now which is discouraging.
Ali has been struggling with her weight gain since being ill as well. She’s hovering around 6 kg but she keeps going up and down,today she’s up!
We have managed to speed up her tube feeds quite a bit in the past few days which is great! She eats at about half the speed of a “typical” baby now which is awesome! She’s come along way since leaving the hospital and is now eating faster then she ever has before!
Yesterday Jason took Ali for tumor screening. There is a significant amount of evidence that Ali might have a high tendency to develop certain childhood tumors. For all you cytotechs the tumors are neuroblastoma and rhabdomyosarcoma. Obviously we need to avoid those at all cost so we are having her screened every 3 months by u/s and will continue to do so until she’s 10 years old. When she turns 10 we’ll switch our screening method and gear it more towards Transitional cell carcinoma as at that time TCC will be her major risk. We don’t have any results from the screen yet but hope to hear soon.
Thanks for reading!
She’s a fighter. Originally Posted March 17, 2010
Ali had an appointment with the pediatrician today and things went really well. He was pretty negative the first time we saw him and he left me feeling pretty devastated so this was a welcome change.
Although he still feels that she has the chromosomal abnormality that we were told about on our last trip to the city (I’m still not willing to say what syndrome it is ), he said that developmentally she is way ahead of where he would have expected her to be at this point! We are so proud of our little bobean for proving what she’s made of! I know she’s a fighter, I can see it!
The karyotype results for the syndrome are still not available and we don’t expect them to be for quite some time but Ali is doing amazingly well at this point and hopefully she proves everyone wrong about the syndrome as well!
She is still totally NG tube fed, we’re not making much progress on the bottle feeding unfortunately but we’re still practicing and hopefully she’ll learn to drink from the bottle soon.
Allison’s weight gain is very good right now, right on track for an infant of her age. He growth lengthwise is not great though but it’s not a major concern at this point , although that is a symptom of the suspected chromosomal abnormality.
Thanks for reading and sending all the positive thoughts!