"Scoop" Merritt Reporting here. Several people have
already mentioned how great it was to meet everyone and hold all the children and play
with them. I will go into a little of that, but I especially want to relay some of the
"stuff we learned" medically and in general good stuff to know. If you are not
interested in this, then ignore future messages from me entitled "Get-together Report
Part two, three etc." And bear in mind that I get rather wordy. :-)
This one contains:
Info about Julia's appt with Dobyns and suggested seizure meds for her...
First of all, let me tell you who some of the people are that I am going to mention. Dr.
William Dobyns of course is the head honcho of the Lissencephaly Research Project. He's
been studying Liss for 15 years, beginning with the first case of MDS that showed a
genetic link, while he was in Neurology training at Baylor in Texas. This is also how Dr.
Ledbetter got involved. Dr. David Ledbetter is a geneticist. Dr. Judith Allanson is doing
a facial features study to try to see if they can determine anything from the various
facial features. Dr. Gary Clark is a pediatric neurologist in Houston who was helping with
the appointments and seeing kids too. He happens to be Cayse's and Samantha's neuro by the
way. He was very good, I thought. That is everyone I will mention in this report and I'll
tell you other people later...
Dr. Dobyns confirmed Julia's diagnosis of MDS, and added to it type 1 grade 1. This
basically means no gyri whatsoever and a really big open fluid-filled area in the middle
of her brain. For those of you who don't know, Julia shows the Chromosome 17 deletion and
it turns out I have a translocation of Chromosome 8 and 17, so am considered sort of a
carrier.
He emphasized his rule of no more than two seizure meds (which we are currently breaking)
and suggested we get Julia totally off phenobarb (which we are already doing). She is also
on Topamax and Vigabatrin (Sabril) and in Dr Dobyns' opinion we should concentrate on the
Topamax and he didn't feel the Vigabatrin was doing much for Julia. However, we think it
is (and Dr. Clark disagreed with Dr. Dobyns on this point anyway). Dr. Dobyns also
suggested Depakote as the next thing to try, since Julia's seizures are not fully
responding to Topamax and Vigabatrin.
Depakote has a possible liver damage side effect and is estimated to be a one in 500
chance it would kill Julia itself. Dr. Dobyns said the decision is ours. As he sees it we
need to decide what is our goal? Long life or comfort while here? If our goal is long life
then he said we should think about keeping her away from Depakote. However if we want to
get rid of these seizures then we should try it. He also said something similar in his
speech on Friday. We asked about what we've heard about Depakote not being given to anyone
under two years old. He said that is up to us and our doctors. The chances of problems
decrease with age but it isn't like POOF all of a sudden on your 2nd birthday the chances
go down. It is gradual and since she is over a year and a half it is better than before
anyway. Anyway the whole "long life or comfort" thing bothers me. Who am I to
make that kind of decision?? It is a tough one.
He measured Julia's facial features (and Dr. Allanson did it again on Saturday for her
study). Julia has many of the typical MDS features of a high forehead, thin upper lip,
upturned nares of the nose, downturned corners of her mouth, low placed ears. There were a
couple of her features he thought might be because of her extra chromosome 8 material. Bob
and I commented later that it is weird, the "features" which are typical of MDS
are what make Julia so beautiful we think. Frequently people tell me (total strangers in
the mall even) that she is "the most beautiful baby I've ever seen". I mean they
don't just say she's cute or whatever. Anyway I agree that the features make her more
beautiful. I was wondering what anyone else's thoughts were on those particular features?
Genetically they agreed with what our local geneticist had told us, that we have a good
chance of more children with MDS and asked us if we knew about prenatal testing and all
that. He put our chances at 33%, I believe, and he said he is working on a new article
about that (specific to translocations I think) and will try to get us a copy of it soon.
Coming in the future reports (after my nap)...
Dr. Dobyns' talk entitled "Introduction to Lissencephaly & Related Birth
Defects".
Dental Care with Kyle House, DDS (the most useful talk in my opinion!)
What I learned from looking at MRI's.
What I learned from the Mom's seminar and the ILS/MDS breakout session (both VERY good by
the way)
-----Reporting from the hot and dreary Northeastern US,
Scoop Merritt, mother to Julia age 18 months with Miller-Dieker