The final DNA tests have come back on Jacob and they have confirmed what we suspected. He does, in fact, have Cornelia de Lange Syndrome. There is a gene, NIPBL, on chromosome 5 that causes CdLS when it is found to be mutated or changed. This is the case with Jacob. Please visit www.cdlsusa.org for more information about the syndrome, if you are interested.
A quick update on Jacob's progress so far:
He weighs 9 lbs and is 19 inches long, 3.5 months old!
His reflux and breathing issues continue. He is still on oxygen and will be for a while. The feeding tube goes in through his nose and into his intestines. The plan is to move the tube up from his intestines into his stomach next month. As long as Jacob is fed into his intestines, he has to be on continuous feeds with a feeding pump. Basically, this means he is hooked up to the pump 24 hrs a day with a slow rate of milk dripping in.
Jacob still has high blood pressure and is being monitored closely for any problems related to it, but so far he has had no issues with it. The doc thinks he will outgrow it. He will likely still need hearing aids for his hearing loss, but we don't know when that will happen. We have had 4 appointments this week, and have 3 next week, and 2 so far the week after that. Things are hectic right now, but well worth it.
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9 pounds! It sounds like he is gaining weight well!
ReplyDeleteGetting those genetic testing results are interesting. We knew for sure clinically that my son had the diagnosis, but there was something about that piece of paper with the results that I didn't like anyhow. My son has the NIPBL too. you may already know that there are several known gene changes.
I definitely can relate to all the appointments! hang in there!