Home two weeks

Time flies when you are having fun.  Well, really, time flies when you are crazy busy adjusting to life with a child with a g-tube, trach, vent and 24 hour nursing.  As of this very moment, we are down to 16 hours a day nursing. Which means our house is currently nurse free for the first time in two weeks.  Don't get me wrong, the nurses have been absolutely wonderful.  We have been very happy with everyone the agency has sent. And, we haven't had one missing hour in the last two weeks. It was just a new experience for us to be with someone in our home 24 hours a day.  

Along with being back home, we are planning a move, and Samantha turned three.  In addition to a kick-ass birthday party she had this past weekend, I also have had to coordinate changing her therapies from the early intervention program to the IU.  And, then in six weeks we'll get to change to a different county!

Despite all of the craziness, all three of us are really glad to be home, and Samantha continues to do so well.  

We were back at CHOP yesterday for a variety of tests she needed as part of the clinical trial she is in.  I haven't talked much here about the clinical trial as I haven't quite known what to say.  We are so very grateful that Samantha was able to begin to receive the study drug (EPI-743) in February.  We feel there has been much improvement during the time she has been on the drug. As there were a few things added at once (g-tube, trach, and the drug), it is hard to say what is helping the most. But, we all do believe the drug has been part of what allowed Samantha to have such a turn around after her respiratory failure.  Prior to her hospital stay Samantha had irregular breathing patterns (consistently for at least a month, 24 hours a day).  Now, even when she is off of the vent for hours, I no longer see those strange breathing patterns.  And, she no longer "zones out" as she had been doing. So yes, I think the drug is helping along with everything else.  Again, I am so very grateful Samantha is able to receive this drug and hope she can continue to receive it.

However, there are many children with Leigh's who may also benefit from the drug but are not able to receive it because they don't have a genetic "marker" found yet that proves they have the disease.  (It's an FDA rule that the drug can only be trailed in children with genetic "proof" of their disease.)  I can't imagine the frustration and anger the parents of those children must feel.  I know of one little girl diagnosed with Leigh's whose parents tried to get an exception to the rule--and the FDA refused to grant an exception.  The little girl, not yet even two years old, passed away in January.  The rule needs to change.  Period.  What harm would it have done to her to allow her to trial the drug?   Now, her parents, the FDA and the company that makes the drug will never be able to know if the drug could have helped her.  Perhaps saved her?

Despite the current FDA rules, my hope is that Samantha trialing the drug will be a part of something that will push mitochondrial disease treatment even further ahead.  And, that is so desperately needed.

Until next time,

Monica