rare disease advocate | HOPE FOR KATHERINE BELLE

If you follow us on Facebook (YOU REALLY SHOULD!), then you’ve seen our recent updates and photographs from the National Institutes of Health where Katherine started the clinical trial for EPI-743. I know how confusing this information may seem if you are not living it, so I’m sharing basic Q & A below from the United Mitochondrial Disease Foundation. (It took us a while to figure out that the “EPI” part of this trial drug name is the acronym for the manufacturer, Edison Pharmaceuticals Inc.)

What is EPI-743?
EPI-743 is a small molecule drug that is currently in clinical trials in the United States and Europe. EPI-743 was recently granted orphan drug designation by the FDA to treat patients who are seriously ill and have inherited mitochondrial respiratory chain disorders. EPI-743 works by improving the regulation of cellular energy metabolism by targeting an enzyme NADPH quinone oxidoreductase 1 (NQO1).

How is it given?
EPI-743 is administered orally or through a gastrostomy tube.

How was EPI-743 discovered?
EPI-743 was discovered and developed by Edison Pharmaceuticals by using a technique called high throughput screening. Edison evaluated thousands of chemicals that target cellular electron handling, and finally selected EPI-743 based on its ability to work, be orally absorbed, and its safety.

Why can’t my doctor just prescribe EPI-743?
EPI-743 is an experimental drug. It cannot be prescribed yet because the FDA does not approve it. Access can only be obtained through clinical trial enrollment. Results will be closely monitored at specified enrollment sites, under the direction of clinical research investigators.

Are there additional clinical sites being established?
Additional trial sites are being established in Europe, Japan, and in North America. (http://www.umdf.org/atf/cf/%7B858ACD34-ECC3-472A-8794-39B92E103561%7D/EPI.PDF)

In a nutshell, EPI-743 is the closest thing to hope available (through clinical trial) in treatment form. Mitochondrial dysfunction is linked to many neurological diseases such as Parkinson’s, Alzheimer’s, ALS, and other diseases like diabetes and some cancers, so this research is important for so many.

I first heard about this trial in September 2013 – just two days after we received Katherine’s first misdiagnosis for Infantile Neuroaxonal Dystrophy (INAD) – when Dave told me he found a trial that might be our only hope. He called the NIH directly and asked how we could get in the study. At the time we didn’t even know much about INAD or if it was even categorized as a “mitochondrial” disease, but Dave left no stone unturned. Fast forward to 2015 and a few months after Whole-Exome Sequencing (WES) results confirmed Katherine’s true diagnosis – NUBPL, Mitochondrial Complex 1 Deficiency. Dave’s early contact with the study (we were told EPI-743 wasn’t even in the building when he called that day) put us next in line when an opening became available in August 2015.

Once again we are reminded of the crucial role we play in advocating for our daughter. Nobody was going to make that call for us and ask how we could get our child on the list for the trial. YOU HAVE TO PICK UP THE PHONE AND DO IT YOURSELF. Thankfully, in our case, Dave did just that.

As always, Katherine was a trooper. Before starting the drug (placebo or EPI-743 – it’s a double-blind study so she will get six months of EPI-743 and six months of a placebo with a two month washout in between), a variety of tests had to be performed to establish a baseline.

Between needle pokes, a neuropsychological evaluation, and an EKG and Echocardiogram, Katherine enjoyed playing at The Children’s Inn at NIH. She loved the many playgrounds, art camp, therapy dog, family dinners, and being around other children.

We have a fridge full of EPI-743 or placebo vials and hope it will reverse or stop the progression of her disease. Only time will tell. In the meantime, we are moving forward.

Katherine starts pre-K this Thursday where she will receive speech therapy, occupational therapy, physical therapy, and water (aqua) therapy. Like everything, school will be a transitional time, so we are focused on making her life as “normal” and routine as possible. We go back to the NIH in early September, with follow-up lab work done here at home in between visits.

Lexington has a father-daughter dance organized by the Her Knight organization. I took Katherine Belle to our second such dance this past Saturday. Here is a little update on our date:

Katherine’s dress was beautiful. Glenda somehow managed to take pictures of her in it, looking serene and regal. The truth was much different. She was worked up and maniacal. These pictures were somehow captured mid-action at precisely the right time to make them look posed. In fact, in my favorite photo below, you can see her left hand clutching her dress to pull it up to rub her face. Yet, somehow, my wife caught her looking calm, mid yank.

After she was dressed, she looked at herself in the mirror and said “I’m a Princess!” Yes, you are indeed.

Katherine is a very shy little girl, much like her parents. Noise and commotion make her withdraw all the more. As a result, when people came up to talk to her at the dance, she would not talk back. At best, she would smile. Then, when they left, she would talk about them non-stop. This happened several times, as we met several dads and volunteers who knew Katherine from our blog. I loved seeing them and them introducing their daughters to Katherine. Katherine enjoyed this as well. For example, after meeting a dad and daughter in line for photographs, Katherine commented “I really am a famous princess!” because they recognized her. She would not talk much while eating at our table or in line, but several fathers and their daughters made a really positive impression on her.

Katherine and I spent about an hour of the dance with her dragging me around. I held her hands from the back, while she “walked.” She would periodically hop (with me boosting her in the air), which is her version of dancing. This was really fun for her, as she loved the way her dress puffed up when she jumped. She often squealed when we did this. She also had a head bobbing, stomping move that would be more at home in a mosh pit than a daddy daughter dance, but, hey, it was fun for her.

She also loved the Chik-fil-a chicken nuggets and the cookies, but not so much the Chik-fil-a cow mascots. The stuffed ones were okay, but the life-sized moving ones were still scary, despite a recent trip to Disney to see similar characters. In fact, after an hour of dancing, our evening ended abruptly after one of the cows approached her too closely. She demanded an immediate exit – well, she delayed long enough to grab a cookie.

I want to thank Her Knight, and Amanda Bledsoe in particular, for putting on such a great event. You truly made Katherine’s day. Mine even more. Katherine spent all morning Sunday telling her dolls she was “Princess Katherine Belle” and making them “knights.”