Tuesday, June 24, 2008

The Final Word, Genetically Speaking

We finally received the letter from Dr. V. along with a copy of the lab report on my parents' DNA tests. Here it is:

Dear Mr. & Mrs. L,

I am sending you a copy of the final CGH microarray analysis report on Joseph and the family. The array was done as a part of our search for an explanation of Joseph’s delays.

The laboratory reported a small missing piece in Joseph’s DNA, in a gene that causes a condition known as Angelman Syndrome. Mrs. L, you carry the same deletion, as does your mother. Your father does not carry this deletion. There is no one else in the family with the same issues as Joseph has.

The finding of this small deletion in Joseph’s maternal grandmother indicates to us that this is most likely a benign DNA variant of no clinical significance. Joseph DOES NOT have Angelman Syndrome. The rest of the microarray was normal.

We have not found a genetic diagnosis to explain Joseph’s difficulties. I do not know what the risk may be for you to have another child with similar problems in a future pregnancy. The risk based in population studies is 5%. There is no prenatal test that we can offer to check for these problems.

I regret that this has been such a difficult experience for you, with the hope/fear that we had a diagnosis followed by the finding that this is not significant. I do not have further tests to offer you at this time. I have not arranged a follow-up appointment for Joseph, but I would be happy to see him or to meet with you at any time, if you or your doctor feels it would be useful. Please call me if you have any questions or if you wish to have another appointment.

Yours truly,
Dr. V.

Our next step is to book a follow-up appointment with Dr. M, the neurologist we met with in May. The actual lab report states:

Interpretation of the significance of this deletion depends on the clinical presentation of the mother (me) since the deletion in her case is also of maternal origin (my mother). If the mother (me) is considered clinically normal, this deletion is likely benign and unrelated to the patient's phenotype.

"Likely" benign and unrelated. Not sure how I feel about that...is it likely, or is it a fact? Dr. M. seems to be more involved with the research side of things and I think he may be able to shed more light on this for us.

But in the meantime, this means we are done with Dr. V. One less hospital that we have to visit I suppose.

As for Joey, he is doing very well. His mobility has increased dramatically in the past few weeks, he is a VERY quick little "scooter". He can move at warp speed by scooting around on his bottom using his arms. So quick in fact that he fell down the stairs yesterday! I promise, we are not neglectful parents, and Joey is fine, but needless to say our home has become a "gated community". We've purchased and installed 3 gates in the house so this never happens again. Miraculously Joey is fine, not even one bump or bruise. I think this is one case where his low muscle tone comes in handy...he doesn't tense up like we would during a fall.

Pictures will be coming soon!

P, J & J

Monday, June 2, 2008

Need a New Name

I guess the name of the blog is now defunct, so it's time to come up with something new. I started this blog while Joey was still going through lots of tests, and named it The Hypotonia Chronicles, since that was his main symptom. Then we got the Angelman diagnosis, so I changed the name, and now that it's confirmed that he does NOT have Angelman I guess it's time for a new name. I'd like to come up with something that I'll never have to change again, because every time I change the name it changes the web address too, which is a pain for people to try and find it. Let me know if you have any good suggestions! If I go with my Grandmother's nickname for Joey it might be a little religiously offensive, since she refers to him as "The Second Coming" LOL :)
So far we have yet to hear from Dr. V, despite the fact that she has no idea we got the results directly from the lab. I'm a bit disappointed, but am trying to give her the benefit of the doubt. I emailed her again on Friday asking if she'd received the written report, but no response as of yet. Now I have this niggling little feeling that perhaps the results weren't clear-cut and she's doing some more behind-the-scenes investigation. Ah, how my mind wanders! She's likely just really busy and hasn't had time to get back to me.
Joey is doing really well these days. He now bounces himself up to a kneeling position, which is great. He has also gotten extremely FAST when scooting around on his backside, he's like a rocket! It's definitely time for some baby gates as he's made it to the top of the stairs many times now, but we're never far behind. All of our stairs are hardwood though, one set ending on ceramic tile, so I'd rather not wait for that one time I can't get to him fast enough and over he would go.
Still no words as of yet, just lots of baby-like noises. We now have a one-on-one worker, Nicole, that takes Joey every Thursday afternoon to work on speech, she's wonderful and Joey loves her! I do feel that he is understanding more, and most recently he learned the word "hug"...when he is on my lap or sitting beside me I can just say "hug" and he lays his head on my chest while looking up at me with his big brown doe-eyes and a smile. It melts me!
Yesterday was the first of the month, which means we marked another month of Joey's life with a picture of him with his bear to show how much he's grown. A whole 26 months old, unbelievable. So here he is, with a shot from when he was 13 weeks old, just for comparison. He's such a little boy now!

This kid now refuses to just sit still and pose with the bear, as soon as we put him down he was off, trying to get to the camera as quickly as possible. My camera is quick but still only managed to capture him while on his way across the floor to me.

So today we're off to OT. Our appointment is at 10am, which I think will yield better results than the 11:30am appointments we've been having in the past. The poor kid is ready for a nap by noon, so he's usually pretty tired and we don't get much accomplished.

P, J & J