Monday, March 24, 2008

Happy Easter!

Just a few pictures of Joey over Easter. He's not a big fan of the bunny ears but I managed to get one good shot at least :)

Joey and his pal, Vita. She is the sweetest cat, she lets Joey pull on her fur and pet her in his less-than-gentle way and doesn't move. We call her our therapy cat :)

Joey's eating seems to be improving, he had a really good weekend. Yesterday he actually ate some chicken baby food, although we had to mix it with fruit. He actually seemed to enjoy it! This is great because the only solids he's really been taking are sweet, creamy things like yogurt, pudding etc. He is also taking some pretty big bottles...a can of PediaSure Plus is 8 oz. and he had a few 8 oz bottles in the past few days! This is very exciting, especially since he's leaving for Florida in just over a week and Jason and I won't be around for the first 8 days to feed him. Maybe this is his way of telling us not to worry?

Thursday, March 20, 2008

Occupational Therapy - Finally!

Monday's appointment with our new OT, Lyndsey, went extremely well! We talked about Joey's issues and what we hope to address in OT, and of course feeding (or lack thereof) is a huge problem. However, I told Lyndsey that I'd rather not focus on feeding because what's happened in the past is that it becomes the ONLY thing we deal with, and we wind up not addressing his other OT needs. So we're going to work on some oral sensory issues, but it won't be the focus. Joey's other challenges right now are that he doesn't yet have a pincer grasp, has difficulty grasping objects when they are handed to him and he is not self-feeding at all. He also seems to have some sensory aversions with his hands.

Within 30 minutes she had him holding a vibrating toy with both hands and voluntarily opening his mounth to try and chew/suck on it. This is huge...Joey does not put ANYTHING in his mouth voluntarily! He had a wonderful time and was fascinated immediately by the giant inner-tube swing in the middle of the room. When we put him on the floor he immediately crawled over to it and was pushing it to make it swing, which of course made him laugh. The we put him in it and started pushing gently; once he got his balance and felt steady he was in heaven!

So I've added some pictures of our session. At one point Lyndsey put shaving cream on his hands to play with. he was a little unsure at first but it became fun. Of course as soon as he saw me pull out the camera it was big grins all around :)
We'll be seeing Lyndsey again in 2 weeks and hope to get in a regular routine of OT at least bi-weekly. April will be a bit off-schedule because our little jet-setter will be in Florida for 2 weeks; the first week with Grandma and Papa and we'll be joining them for the second week. We've all had enough of this winter weather and can't wait for some sun and beach fun!

Here's a video clip of Joey at OT:

Sunday, March 16, 2008

The Ghost in Your Genes

This won't be a long post, but I wanted to share a link to a very interesting BBC documentary on genetics, which uses Angelman Syndrome and Prader-Willi Syndrome as examples to describe imprinting, inheritance etc. I had no idea it was going to talk about Angelman specifically so I was pretty happy to find this.

The documentary is called The Ghost in Your Genes, and it's divided into 4 parts. Angelman is discussed 3 minutes into part one. If you've found our story the least bit confusing you'll find the documentary very helpful at explaining the science behind what's been found in Joey and I. The main focus of the program is how environmental factors over generations can affect our DNA. Its really quite fascinating.

Here are the links (each part is approx. 11minutes long):

Part 1:

Part 2:

Part 3:

Part 4:

Stay tuned tomorrow...Joey starts with his new Occupational Therapist. He's been without OT service for well over 6 months now, is still on the waiting list for free service but we've decided to seek service through a private OT specializing in children. It's expensive, but we think it is really important that he receive OT more regularly. Hopefully this new therapist works out well, I'll post more tomorrow!

Pamela, Jason and Joey

Monday, March 10, 2008

Back Where We Started (sort of)

We just got home from Toronto after meeting with Dr. V. As of right now, Joey's diagnosis of Angelman Syndrome is not confirmed. As we suspected, and previously posted, the deletion found in both Joey and I is unique and ambiguous. The function of the area on the 15th chromosome where the deletion was found is unclear, and to further define it's relevance both of my parents need to be tested. My Father spent over 7 hours in his car today and provided his blood sample at the hospital. Arrangements to obtain a sample from my Mother are underway.

Dr. V. has been busy doing research and contacting the geneticists I found in the US. She is looking at having his DNA "sequenced" at the Baylor College of Medicine in Texas, one of the research sites for Angelman Syndrome. This would basically focus on studying the 15th chromosome in even more detail. Dr. V believes before we go ahead with this test it would be helpful to get the lab that did the original test to communicate with the lab at Baylor directly.

Dr. V took some pictures of Joey today and examined him. She has a genetics conference in the US next week, and asked permission to present Joey's case in order to try and find other geneticists that may be able to help her interpret the lab findings. Of course we agreed, any chance to expose Joey's case to more professionals can only assist in getting to the bottom of this mystery. Who knows, maybe there are a few others out there like Joey and I?

So for now we've been granted a reprieve... When we asked Dr. V today "does Joey have Angelman Syndrome?"her answer, for now, is no. But that doesn't mean much. Ultimately Joey could have AS, but it's just that the lab findings as of right now aren't clear enough to confirm a diagnosis. The next step is interpreting the results of my parents' tests, which could take weeks. So more waiting, which is something we're getting pretty good at!

Wednesday, March 5, 2008

The Cast of Characters

Okay, so to make sure we're all on the same page, and because I'm adding a new player to the mix, here's what we have so far:

Dr. V - Our geneticist in Toronto
Dr. T - The Geneticist in Boston
and introducing...
Dr. W - A geneticist from the US, found through the Angelman Syndrome Foundation

(Out of consideration for the doctors, I'm using initials simply because they haven't actually consented to me using their names, and this is, after all, the internet)

Today I received a call from Dr. W, after receiving our information passed on to him via Angel Mom Becky (can I ever say thank you enough?!). Dr. W reviewed all of the information and told me that he needed further information from the lab regarding the size and location of Joey's deletion. So he called the lab, they gave him the information and he just called me back. I'll try to sum this up as succinctly as possible:

Dr. W says that based on the size and location of Joey's deletion, it is entirely possible that it is NOT related to Joey's issues at all, and that Joey does not, in fact, have Angelman syndrome. Apparently we all have "junk" DNA, and we all have little deletions and abnormalities in our chromosomes which do not affect us at all, and it is possible this is what has been found in both Joey and I. The only way to know for sure is to do further testing on my family members, beginning with my parents.

If it is found that I inherited this deletion from my Mother, then the conclusion is that Joey does NOT have Angelman syndrome, and this abnormality is not causing Joey's issues at all. The reason we can make this conclusion is because it would have already been passed from MOTHER to child (my Mom to me) with me having no ill-effects.

If it is found that I have inherited this deletion from my Father, even more testing will need to be done, starting with my 2 half-sisters (we all have the same father) and THEIR children, to see if this has been passed down from them to their kids with no ill-effects. If one of my sisters AND their child HAS this deletion, again we can make the conclusion that it is not the cause of Joey's issues, because it has again been passed down from MOTHER to child with no ill-effects.

Are you following me here? Yeah, I know, it's confusing. It's all about being passed from mother to child.

Anyway, my father has graciously agreed to be at the hospital on Monday to provide samples to be sent for testing, which is the next step in solving this mystery.

On one hand we are happy and excited at the prospect that Joey may not have Angelman syndrome. On the other hand I am incredibly angry...I mean, the lab report was very clear that the findings in our bloodwork result in Angelman syndrome for Joey, that is also what Dr. V told us less than 2 weeks ago, and now we're being told that perhaps the lab was too hasty and maybe shouldn't have made that determination just yet. Don't they know the anguish that has ensued based on their simple one-page document?!

For now we will try to keep our excitement, anger etc. in check and await out appointment on Monday.

Tuesday, March 4, 2008

The plot thickens...

Again, upon the advice of a fellow Angel Mom (thank you yet again Erin!) I forwarded Joey's lab results and genetics report to a doctor at Boston Children's Hospital, which is a teaching hospital for Harvard University. Once again, I am shocked at the willingness of others to help us...this doctor had no obligation to even read my email, let alone respond in such a detailed way:

Hi Pamela,

Thank you for forwarding Joey's genetic test results and geneticist's report to me -- that was very useful and interesting. After looking at the report and looking up one of the genome databases, I found out that the deletion identified in both you and Joey affected only a very small part of the UBE3A gene that is responsible for many of the symptoms of Angelman syndrome. I think it can be very difficult (if not impossible) to diagnose Angelman syndrome clinically at Joey's age. Therefore, I think there are 2 possible interpretations for this finding:

1. Joey has Angelman syndrome due essentially to a "mutation" in the maternal copy of the UBE3A gene, but instead of it being the usual point mutation, he has a relatively large deletion (compared to the small deletions and mutations typically seen in UBE3A). [although I don't think this particular deletion inthe UBE3A gene has been reported, so it's difficult to know the significance of it]

2. Joey does not actually have Angelman syndrome and this is an incidental finding in both you and him.

One of the ways one can try to find out a bit more about the significance of this deletion is to test both of your parents (i.e., Joey's maternal grandparents) to see if you had inherited this from either of them. Would that be possible?

Dr. V is a very good geneticist, and it would not be appropriate for me to"by pass" her or to "take over" Joey's investigations in any way, so I think you should follow up with Dr. V, as arranged. However, I would be happy to communicate with her by email if she finds it helpful. We would need to have a molecular diagnosis of Angelman syndrome in Joey before he is eligible for the Natural History study.

I hope this helps,
Dr. T.

So here we are again. We have an appointment to meet with Dr. V on Monday afternoon, so we will of course go over what Dr. T has said. In the meantime, we are going to sit tight, compose our list of questions and hold off on scrambling to book more tests.

I can't even begin to describe what this is like...almost as though we are on the biggest, tallest, fastest roller coaster in the world, and while we are terrified and nauseated, and begging to be let off, it just keeps going and going.

In the meantime, Joey is happily oblivious to all that is going on, for which we are thankful. He continues to try his best at all that we ask of him, and continually makes progress in every area; except, of course, eating! Still the bain of our existence, we are happy that PediaSure was invented and continues to help our little boy gain weight. His next weigh-in is not until May 5th, and we're hopeful that he'll gain at least a half pound by then :)

That's all for now,

Pamela, Jason and Joey