It Cannot End Today

This week found me in San Diego….which was awesome and beautiful and lovely. But more importantly, I was there for the Global Genes Rare Patient Advocacy Summit.

Turns out, rare is not so rare. 1,000 beautiful souls gathered to make our rare known.

Rare people are lovely. I already suspected this but there is nothing more welcoming than sitting on a shuttle and conversing about which genetic mutation you carry and why you are here.

Rare is resilient. I listened to many talk about loss; loss of their Loves and loss of their own normal. I listened to Ono Faber, Founder of a company called RDMD. Four years ago, he developed a tumor on his left hearing nerve, and another tumor on his spine, and another and another. Being an entrepreneur and a man who loved to solve problems, he had his tumor biopsied and invited researchers to his tumor’s ‘hack-a-thon’ to determine the cause of these tumors.

Those hackers dug right in and found a mutation in the NF2 gene which caused a condition called Neurofibermatosis- he is one in 30,000 with this deviation.

I want a genetic tumor hack-a-thon.

But I am not a hacker, or an entrepreneur, or a doctor, or….or….or.

On the first day I sat in a session sponsored by Courageous Parents Network. It started with the question, ‘Why are you here?’

I wrote down my answers:

  • My family: I am here for Samantha, I am here for Jack, I am here for Ryan
  • My Tribe: I am here for you- our Mitochondrial Community
  • My future Mitochondrial Community- You who I don’t know yet- those we can help to make their journey less painful
  • I am here because I want to change this outcome

I sat in a session hosted by The Two Disabled Dudes- check out their podcast. The Executive Director of Team Telomere- said the following, “I want to make today as good as it can be for as many people as I can.”

She lives with the mission to make more days available.

To make more days available.

That is what I want. I want you to have more days. And for those days to be as good as possible. I want more days, I wanted more days.

You have read the posts this week. They have been hard and heartbreaking and beautiful and hopeful. And the concept of cure sometimes is so overwhelming and seems so out of reach. We live in the fear of our Littles, our Loves and ourselves that the cure might not come in time.

The fear is real, and palpable and we have seen that fear become a reality too many times. Rare can be littered with fear.

But I also learned this week that Rare is collaborative. I met many brilliant, driven, hopeful people who have paved a little trail for us and are willing to share the map and provide a compass.

I hope you will join me for the hike.


Be Mighty- Our Patients are Waiting

This quote is not mine but I love it.

I am going to steal it for every single mitochondrial presentation. For our doctors, for our researchers, for our government, for you….please… mighty….be bold……we are waiting.

Friday found me here:

Discussing this:

I invite you to read the caveat on the bottom of the poster ‘Given the complexities of primary mitochondrial diseases, and by extension the difficulty of designing informative clinical trials in this group of rare diseases, FDA is organizing a scientific symposium with the goal of bringing together academic physicians, FDA regulatory experts, patient advocates, and other interested stakeholders to exchange ideas and advance drug development in this challenging field.’


When the FDA puts this in print, our call to be mighty is mighty.

I pulled up on Friday in my Uber…..just a simple English major from Colorado…… with our super-smart Mito experts and the frickin’ FDA.

Well butter my biscuit and call me for breakfast.

Here’s the skinny; you Mito folks we have an audience.

We have an ear of the FDA.

Thank you to the UMDF, Stealth BioTherapeutics, MitoAction, MDA, everyone in this space, thank you for promoting our ear.

Clinical trials within the mitochondrial space are not easy. Mitochondrial diseases spread among 37 MtDNA genes and over 250 nuclear. Our family carries a mutated POLG-1 gene, which is a nuclear inheritance but the presentation even among our family is different.

Every night Hubs would rub Sammers head and say ‘good night, Samantha, keep fighting the good fight.’

We lost that fight.

I hate that we lost that fight.

When the FDA started talking about Pediatric testing and the ethic barriers to certain tests, I got up and talked. I talked about when Samantha was diagnosed with Infantile Spasms; when her poor precious brain was seizing 90% of the day and the only med that could help help her was Vigabatrin. And when I found out Vigabatrin was not FDA approved because it was known to inhibit peripheral vision.

I didn’t give two poops about her peripheral vision. Stop the seizures.

Stop the seizures.

Stop the seizures.

We paid out of pocket from Canada for Vigabatrin and for a brief moment, I lived the life of a Vigabatrin drug lord because it was approved in the States.

The FDA needed to know my life.

The FDA needs to know your life.

They need to know that you would sacrifice peripheral vision to stop the seizures. That your life is so far from normal, you would give up what seems normal for a bit of normal.

My challenge to you Mitochondrial community.

Be Mighty

Please be Mighty.

Lets talk about our story. We talk about a Natural History study, mapping out genetics and physiology. What about a person study? Who were you before your mitochondrial disease? Before your child’s mitochondrial disease? We now have an ear to the FDA.

Be fearless, be bold, know you have a voice.

We have nothing to lose.

Be Mighty.

I will take your mitochondrial story: