So as alot of you know, I have been getting pretty frustrated over the past couple of months with Lucca's geneticist... for numerous reasons that include not EVER returning a phone call... ever.. and several other reasons.. but I won't go into detail.. Basically we just haven't felt great about him (although our first visit with him was phenomenal...weird I know)
Anyway, I have been told by several friends to try the geneticists at UF Gainesville.. So I took it upon myself to e-mail all of them directly.. lol The e-mail simply asked if any of them were familiar with or had even ever heard of Phelan-McDermid Syndrome because I didn't want to make an appt to drive to Gainesville to be told that they weren't familiar.. One of them e-mailed me back telling me that he didn't feel comfortable discussing anything over e-mail and to make an appt with him.. Then this afternoon another one called me at work! We played phone tag for a little bit and then when we finally spoke he told me that he WAS familiar with PMS and that he knows the doctor that it is named after (Dr. Phelan) and he is actually treating/has treated a few kids with it! He told me I needed to register with the foundation (which I have already done) and that I needed to attend the conference in 2012 (which I am planning on doing) and that he really feels like he could help relay information to us and that he WANTS to treat Lucca and he knows how rare of a syndrome that it is and that he WANTED to help us :)
I asked him how I could go about making an appointment with him (which usually you have to wait months to get in with a geneticist) and he said that he was actually going to be in Jacksonville on April 6th working out of a Peds Developmental Clinic and he is already booked for the entire day but he would get his counselor to call me and fit me in if I would be able to make it.. Umm YAH! How awesome! I really hope this guy isn't too good to be true because this is the best news that has happened to us in a while and I am super stoked!! I hope he is able to give us more than what we know and is able to help us :) I am going to try and stay hopeful that he is the answer to a prayer!
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
Wednesday, March 23, 2011
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
*hypotonia
*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 :)
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
*hypotonia
*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 :)
Subscribe to:
Posts (Atom)
