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

1 comment:

J said...

Wow! I know you still have unanswered questions but this must be a huge relief...an answered prayer. Imagine if you had just gone along and not fully investigated all options. Again, wow.