Calling all Leigh's Families

If you read our blog, you likely know that Will is a Phase 1 participant of the Edison Pharmaceutical trial, EPI-743. We have seen real changes with this trial drug and are anxiously waiting for it to come to fruition for others.

If you have a clinical or genetic diagnosis of Leigh’s or even suspicion of having it, non-profit group MitoAction is asking all families with Leigh’s to contact them immediately. MitoAction’s Executive Director Cristy Balcells is compiling a list of all patients under the age of 18 who have a clinical AND/OR genetic diagnosis to send directly to Edison. Cristy has a daughter with Leighs and also is a nurse.

Even if your doctor has already screened you for the trial, submitted paperwork or if you have been rejected – please email Cristy at director@mitoaction.org or call 888-648-6228.

Right now, EPI-743 is in phase 2B of this trial. It’s an FDA required phase and it’s a double-blind, randomized trial. Meaning, some patients have a placebo and some have the real stuff. At the end of six months, everyone will receive the real deal regardless. This step is necessary in order to bring this drug to market. They need 30 children - now - and they only have 12.

Unfortunately, the requirements as agreed upon by the FDA require that the patients in this phase 2B study have a GENETIC diagnosis, not just clinical. This is a big difference. You can present clinical symptoms – lesions on the brain, ataxia, seizures etc. – but not have a confirmed genetic diagnosis. Our DNA remains smarter than we are at this time.

So, if you are clinically diagnosed only or if you have already been rejected from the trial, you might think why bother… well, what if we as parents can unite and show the FDA that there are hundreds of patients out there who would benefit and your child’s quality and longevity of life increases? What if we as parents can make real change for our kids by simply putting our name on a list? What if we will have the opportunity to participate, but since we aren’t a part of any database or registry we can’t be contacted directly? Let’s make sure that every family – everywhere – is known to Edison Pharma.

And lastly, there’s my huge selfish reason for asking our Mito friends to do this…. My son has benefited from this drug. We don’t know how little or how much, but he has. His verbal shot up, he hasn’t shown any new lesions on the brain since starting and his pigeon toed walking style went away. If this drug ceases to exist, then access for my son will too. If that happens, the little hope we have will quickly fall apart and we’re left with CoQ10. So yes, let me be transparent and say I have a vested interest in this, but so should ever Mito parent.

It’s our responsibility as the first generation of families to even have a clinical trial opportunity to do all we can to spread the word and help make this a success. The quicker we as parents can help make this drug trial a success the quicker the entire Mito community will be able to access the drug. Don’t underestimate the Mito Mom (and Dad!) network. Let’s unite, share the message and get access FOR ALL who might benefit from this drug.

My little Mito Warrior at the Stanford EPI-743 trial waiting for his first brain scan.

Chillin with dad post-relaxation meds.

Sleeping it off in recovery post-brain scan. Scary to see him like this, but worth every minute of worry.