Holly Usrey-Roos has the unenviable task of trying to determine the next-best medication for her children, now what appeared to be the best medication is unavailable.
Fourteen-year-old Parker and 10-year-old Allison Roos have Fragile X Syndrome, which is the leading known genetic cause of autism. Parker had trouble making himself understood and often became aggressive; Allison had milder symptoms, mostly involving anxiety. Both were part of a trial of the drug Arbaclofen, which seemed close to a miracle for the Roos family. Parker, in particular, was able to participate in more activities and communicate more fully. A few weeks after starting Arbaclofen, he told Holly he loved her for the first time. He was 10 years old.
But the company which makes Arbaclofen stopped the drug trial in May. There is no way to get more. Parker and Allison have been tapering off the drug and Holly is investigating alternatives. It is an anxious time, and I asked Holly if she would mind sharing some of what the family is experiencing. She figures the more people who know, the better, so here is her take on the last few weeks, via email:
“There has been clear regression in both kids. For Allison her anxiety has
returned to the level it previously was. She’s unable to go to the
neighbor’s house to see if her friends want to play on her own. It requires
me calling or texting first to see if they are available/interested. She is
very emotional.
“Parker’sanxiety has returned and his speech has been affected. He often
finds himself unable to find words and get thoughts out which is very
frustrating. On occasion his speech is slurred and harder to understand.
His anxiety and frustration have led, on a couple of occasions, to
aggressive/physical meltdowns.
“He is away at KARE camp this week and is doing very well there. He does
best when his friends are with him, it’s almost like they can see in his
eyes what he wants and get that across for him so I have arranged many play
dates to help him through the summer.
“We had our appointment at RUSH last week to have his blood drawn to see if
he qualifies for the Novartis trial (he has to have full methylation to
qualify, which I believe he does but the blood test will confirm). I was a
bit worried about the appointment as it took me 45 minutes (and calling a
friend of mine to come help encourage him to go) to get him out of the house
and into the van. He was very anxious and not real happy the entire four-hour
drive there but once we got to the clinic he did awesome! He sat perfectly
for his EKG, blood pressure and did well with the blood draw. We had dinner
with friends at one of his favorite restaurants on the way home and now are
just waiting.
“So, while there has been regression – it has not been of everything. He did
start on baclofen the day he started to wean off of the Arbaclofen. The
dose he takes is equivalent to the dose of Arbaclofen but there is also an
entire second component to baclofen which can block the Arbaclofen component
from working. At this time, I honestly am not sure if it’s helping or if it
is and it could be much worse without it. I just don’t know.
“I am hoping that his body levels out and adjusts to the new routine of
medications over the next week or two and I can have a better idea of what
to expect.
“If he qualifies for the Novartis trial, I would have to take him off two of
the medicines he’s on right now (Tenex and Clonidine) for him to be able to
do the study. I just don’t know if that is a good idea or not.
“If he doesn’t qualify or if the decision is made not to take that route
because of the removal of the other meds – the next option would be to look
into Acamprosate which is on the market now (I believe for alcoholism??) but
has been in small clinical trials to see the effectiveness in Fragile X
(Which so far have been good). RUSH will be starting an Acamprosate trial
soon. . . ”
“Thank you for asking – I haven’t published the last 3 things I’ve written
yet but here is a link to my blog: http://itswhoiam-fx.blogspot.com/
I need to publish one of the updates (or all three) it’s just that publishing
isn’t as easy as writing!”