Monday, February 28, 2011

Lucca's Official Diagnosis

So I know that I have been mentioning and talking about Lucca's chromosome deletion over the past couple months, and I have been doing my OWN research because I could never get a call back from the geneticist to "confirm" what I had been reading and finding out. So this is just to let everyone know that Lucca's OFFICIAL diagnosis is something called " PHELAN-McDERMID SYNDROME" . The part of his 22nd chromosome that is affected/deleted is the bottom portion, or "22q13.32 and 22q13.33" The two pictures below show a diagram of chromosome 22 and the 2nd picture scales down to show the portion that is affected on Lucca. The portion that the arrow is pointing to is the portion that Lucca is missing/is deleted. Basically the very bottom of the 22nd chromosome is missing.

The doctor said he has had come cases with the same deletion but different sizes of the deletion (Lucca's deletion is relatively small but still has side effects) and they all seem to have issues with late development which we already knew, but that most of them are walking and talking which is great news! We are definitely hoping that Lucca is some sort of an exception and are keeping high hopes for him and praying that God is going to heal him. Basically, all we know is the information we get from reading about this syndrome because alot of cases have not been reported and it is a pretty rare syndrome. Things that we know ARE affected/ and that Lucca exhibits are:
*severely delayed to absent speech
*chewing on non-related food items
*intellectual delays/disabilities
*global developmental delay
*long eyelashes (who woulda guessed)
*high palate
*decreased sensitivity to pain
*dysplastic toenails
*gastroesophageal reflux
*wide spaced teeth

These are just some of the things (the ones that Lucca exhibits) that go along with this syndrome.
The doctor told us that basically his future is unknown because ALL children and cases are different. You can't compare.. He IS showing progress and that is a great thing. He also went over Lucca's brain MRI and showed us that his entire brain looks great, everything is placed where it is supposed to be and is the right size, it just has a little more developing to do, but he said that because it looks pretty healthy that he doesn't doubt it will develop all the way. (hope he's right!) So he told us to just keep doing what we are doing with his therapies, and to keep doing things that Lucca enjoys and that make him laugh to keep stimulating his brain.
Lucca also has a duplication on his 1st and 10th chromosomes that the doctor said are not of concern and they aren't harming or messing up anything in his DNA. Randy and I have to get tested now to see if any of the chromosomal issues Lucca has going on comes from one of both or us.

Anyway, this was just a little post to let everyone know the official diagnosis and to also let you know a little bit about what it affects.. Please continue to keep Lucca in your prayers as we do everyday and claim healing over his little body and mind :)

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