Well, things just got real. We’ve been planning on enrolling
the girls in the first ever clinical trial for a potential drug treatment for
galactosemia for a few months now. Last week, we thought they would be going in
August – after we return from our annual vacation in the U.P. Then I got a voicemail
on Saturday asking if I could call them back, it was urgent. The direction from
the sponsor was if we wanted to be part of the trial, we needed to come in yet
this month. So, as of now (but things with this trial change a lot and quickly)
I will be taking Francesca to Ann Arbor next Monday and staying until Thursday.
Then I will return the following Monday - Thursday with Amelia. And then we’ll
go on our vacation. (Insert wild laughter and hyperventilating here.)
So – a little background on how we got here. A few years ago,
we learned some really exciting news – there was a drug company interested in
developing a treatment for galactosemia. As a rare disease this was huge; companies
don’t take interest in rare diseases like galactosemia. We had no idea what the
timeline would look like or what it would mean for our galacto girls, but we
were hopeful. When the clinical trial started, I was excited but didn’t plan to
enroll the girls for two reasons. First, they are thriving. They aren’t
currently experiencing any delays, so I didn’t feel the urgent need to get them
on the medicine. The clinical trial was also taking place exclusively in
Atlanta and the initial stay lasted around 7 days. I just couldn’t see how we
could make the logistics work…until a couple months ago. Earlier this summer, they
announced additional testing sites were opening, including one in Ann Arbor,
Michigan – less than an hour from where we live. And they were enrolling in
Part B, which would only require a 2-3 day clinic stay for the initial visit.
I knew then that we had to do it, for a couple reasons.
First, we are a rare disease community – if we want to show the FDA that there
is a need to get this potential treatment fast tracked and available for our
kids, we need to show up for the trial. Second, while my girls don’t have any
known impacts now, research indicates that over time they will be impacted –
their bodies will continue to create galactose, and without a way to break it
down – it will act as a poison attacking their organs and causing issues that
could result in tremors, seizures or a host of other issues. I need to fight
for my kids to have the best chance at a healthy life, and that means getting them
on a potential treatment, as soon as possible.
So, what is the point of the clinical trial? Applied
Therapeutics believes many of the long-term complications are created by
galactitol. Galactitol only exists in people with galactosemia and occurs when aldose
reductase changes galactose into toxic galactitol. (Huh? It’s confusing, I
know! Watch this video for a better explanation:
https://youtu.be/U_uInPTBmLA.)
Anyway, the medication they are testing has
been shown to lower the amount of galactitol in participants without raising
the Gal-1-P (amount of galactose in the blood). Currently they are wrapping up
Part A, which is determining the correct dose for each of the three age groups.
(Ages are 2-6, 7-13 and 14-17).
As participants in part B, the girls will receive the
medicine (or could be given the placebo…it’s a double-blind study so we won’t
know what they get until the end of the trial) and go through extensive
multiple-day testing (think MRI, EKG, blood work, speech and language, eye exam
and neuro testing). After the initial clinic visit, a nurse will do home health
visits at 30 days and 60 days. Then we will return to the clinic at 90 days.
After that they will receive monthly blood draws (at home) and we will return
every 6 months for 1-2 days of testing, until the end of the clinical trial.
The galacto girls had their initial blood test to confirm
their diagnosis and provide additional necessary medical information in early
June. And we had been waiting for next steps…until I got the call over the
weekend.
So, yes – I’m panicking. I honestly don’t know how I’m going
to make it through the next few weeks. It’s a huge time commitment. It’s a
sacrifice. It’s hard to watch the girls go through the anxiety of the blood
draws. But it’s even harder to think about a future with no treatment, with no
hope of mitigating the deficits they will most likely experience over time. It’s
for a better future – for our galacto girls and all our friends with
galactosemia.
And yet, nothing is promised. Will the medicine work? Will
it really make a difference and reduce the long-term complications? I have no
idea. But we are showing up for our small but mighty rare community. And if it
doesn’t work – we’ll be ready for the next opportunity. Because my girls
deserve to live the best possible life, even if it means long days, sleepless
nights and discomfort for a short time. That is what I am going to keep telling
myself – when I start to doubt that it’s worth it, when I want to quit, when the
tears come (from both me and them, probably), when it seems like they can’t
take another needle poke. It will be worth it. Maybe not today, maybe not in a
year or even two– but eventually, if it helps with the complications, it will
be worth it. And even if it doesn’t – we will know we did everything we could while
we wait for a successful treatment.
So, if everything happens as currently planned, I’ll be
taking Francesca on Monday, July 12 and staying until Thursday, July 15…which
happens to be our sweet girl’s 7th birthday. Not the best way to
celebrate, but it is out of our control. Then I will return the following week
with Amelia. Please keep us in your prayers over the next few weeks. I’m not
sure how we’re going to do it, but we will. Because we can do hard things.
