When I was at my most ill with Hypermobility Ehlers-Danlos Syndrome, which was years and years as I am among the most severely affected, I made a list of what I would like to do if I ever got well enough to do anything. Since I had planned my suicide anticipating the worst, it made sense also to plan for the best.

When you are born sick and have not known much else (my body gave out by age 13), it is hard to imagine what it would be like to be able to function and participate in life, but I did my best to dream.

In the years since I got well, I have done things I never put on that list, because I never figured on having endurance, the ability to show up day-in, day-out without giving out.

I was too busy wanting to be out of endless pain to appreciate that Hypermobility Ehlers-Danlos Syndrome is a disease not only of weak collagen, but of being unable to heal and repair properly.

The summer I spent in Paris, learning Japanese and crossing the finish line of a 2 mile ocean swim race were adventures I never thought to want, but once within reach I decided to try. Gotta keep your life interesting.

What was on my original list? Items that are of the one-day duration.

• I wanted to swim with a whale. I never had a plan on how to do this because it’s illegal. If you are a marine biologist you can get a permit or something. But then this year, it happened. He was a lone straggler, late making his return from Mexico to Alaska. I was out there one morning, swimming off the coast of Los Angeles with the triathlete group I belong to, not to brag or anything. But Oh F*ck! I didn’t see him. Someone caught a pic of him breathing. What I had in mind when I thought of “swim with a whale” was a face-to-face encounter, ideally with a smooch and a selfie. So that will stay on the list, unchecked off. I will try to catch the migration again next winter. If the whale approaches me, then who is breaking the law, right?

• I wanted to visit the Barnes Foundation, a small but special art museum with a complicated history. It is a burden to be such a sensually sensitive person as I am from Ehlers-Danlos Syndrome, and I am sure you are too. But the upside is heightened life experience. The visual stimulation from great art I find intensely relaxing and transcendent, like a religious experience. I’ve been making my way around the world to stand in front of paintings and sculptures in person. Pure. Bliss.

Just the other week, Mr. Pennington and I got on the redeye from Los Angeles. OMG did that hurt, but we wanted the extra time, not to waste a day traveling. We landed in Philadelphia at what was 2:00 a.m for us, had breakfast prepared by Amish women (oh. yum.), took a nap, and walked to the Barnes.

The Barnes was all that, one of the best museum experiences I have ever had. It was worth the agony of flying all night. The collection is extraordinary. I love walls crowded with paintings. At the Barnes, there are no plaques next to the art full of words no one but an art historian would know, that just mentally exhaust you and distract you. Instead, each room had a paper guide you could read if you wanted to learn a little more, but even that said little. How nice. Art is for staring it, allowing your mind to take in.

But there was another reason we had come to Philadelphia.

Global Genes 2019
RARE Drug Development Symposium

I love any Global Genes event. Before I found that organization, I did not know there were other people out there, whose lives were getting ruined by untreatable rare disease, who like me were doing everything they could to change their fate.

Yes, that is me with Lara Bloom, executive director of the Ehlers-Danlos Society. She spoke at the event. Her presentation was exceptionally good. How nice it would be if Americans could enunciate, pause at appropriate moments and gather themselves verbally just a little better. Oh the rambling, mumbling, emotionality, and rushing one has to sit through at these things. My scarf is a souvenir from the Museum of the American Revolution.

Lara talked about the latest going on with research into our rotten disease. And won’t you please, please, please take the time to join the Ehlers-Danlos Society Global Registry so we can be better understood.

Because Ehlers-Danlos Syndrome has been studied by the NIH and other organizations for many years, a lot is known about it. We are lucky. There are many diseases so rare, nothing is known about them. But we need to understand hEDS more.

Please also enroll in the HEDGE study. This is so important. The genetic causes of all other types of EDS besides hEDS are already known. The Ehlers-Danlos Society received a donation of  $1,000,000 to find the genetic cause of Hypermobility Ehlers-Danlos Syndrome. You can imagine the envy other rare disease people at this event had. Someone even asked Lara for the name of that million dollar donor.

The scientific estimate is that it will take examination of the genomes of 1,000 of us hEDSers to find the genetic cause of hEDS, which might actually be several different types. The Ehlers-Danlos Society needs more bodies. Please enroll!

Rare Disease

There are more than 7,000 rare diseases. Only about 400 of them have an FDA approved treatment. Yikes!

It is thought that 80% of rare disease are single mutation caused rare genetic disorders. See this Profile of Rare Diseases from the NIH.

All of humanity benefits when a single mutation caused rare genetic disorder becomes understood. That is how we learn about the human genome, and which genes are important and what exactly that gene does. Until then it is just a guess, based on what that gene might be doing in another life form, maybe a fly or a rat. But the human genome functions differently.

Because I had Mr. Pennington to take care of me, the best medical benefits around (so unfair it makes me ashamed) and a doctor willing to experiment on me, I never had to start a foundation to study my disease or fund research, something Global Genes teaches at their events. I had my own private cause of one, run by and for the immediate benefit of me. I am quite bossy and daring, so this worked out.

Drug Repurposing

Much of this event was about repurposing FDA approved drugs to treat rare diseases. What a wonderful idea that is. If the same pathway is involved with a disease that already has an FDA approved treatment, that drug might just work on the other disease.

Indeed, this is what has happened with my case of hEDS and my use of Ascor. I present with many of the symptoms of scurvy, which Ascor is FDA approved to treat. Why it does such a bang up job treating my disease when injected intramuscularly is curious and remains to be understood. People do ask me how this all works, no matter how much I say this was an accidental discover. I sure don’t know. A lot of what happens in the human body is still a mystery. In the meantime, I get to live my life. Note that I did not have these life-changing benefits from oral C which I tried at large doses for an extended period of time.

The injected Vitamin C (this is what Ascor is) greatly compensates for whatever mysterious genetic error has been ruining my health and given me all these torturous symptoms. I am not cured, but I can keep up with the normals and do what I want. Now, other modalities and treatments actually work on me. The injected C gives me better collagen stability, muscle strength, and capacity to heal and recover that I never had. Vitamin C also down regulates mast. In animal studies, injected C healed arthritis and tendon injuries. My arthritis went away, nearly all of it. Yay!

That is how single mutation rare genetic disorders are: One harmful gene causes a magnificent disaster of many symptoms that seem unrelated, resulting in a body magically incorrect in how it goes wrong. 

When someone discovers a compensation for the on-going genetic error, it provides widespread relief in the case of the single mutation rare genetic disorder, because it has such a simple cause.

Why am I so sure hEDS has a single gene causing it? Because the dominant pattern of inheritance.

All clear? Good.

Videos of the presentations will be available soon, and I will post the link.

Ascor and hEDS

You can wait for someone to get around to studying Ascor and the treatment of hEDS. Or you can just get a prescription and try it on yourself. It’s a very safe drug. All dosing is a guess. I definitely need it everyday.

Other modalities I have found necessary for the effective management of Hypermobility Ehlers-Danlos Syndrome, besides daily injections of Ascor:

1. Never ending exercise to build endurance, protect joints and make myself as stable as possible. POTSies, we definitely need the circulation and the muscles to improve blood flow. Weight loss unburdens our very challenged, flimsy bodies.

2. High salt intake. It seems I hyper-excrete sodium in my urine. With enough salt, I hang onto fluid and stay hydrated. Salt depletion causes brain fog, fatigue, and bone loss. Let’s have lunch and you can see the shocking amount of salt I put on my food.

3. HEDS is a real drain on the brain. This must be addressed so you can think. Get off all drugs that overload and tire the brain if you can. Please do consult with your MD about drugs that dimming cognitive function: anti-anxiety, antihistamines, opiates, cannabis, certain antidepressants. Engage in anything and everything you can find to improve brain function. I like the drug naltrexone, neurofeedback, vigorous exercise, activities that demand hand-eye coordination and physical therapy to improve balance and coordination.

Healing Takes Time

Don’t forget, the Ascor is only the beginning. The shots hurt and healing takes time. Give yourself six months of shots everyday and see what happens.

You will probably have to suffer through physical rehabilitation and get yourself strong if you want a better quality of life. That is hard for anyone who has been incapacitated. But exercise is totally fun and makes you feel great because of all those healing hormones it gets going.

You might have to suffer through getting off powerful pain meds. Learning to deal with life no longer high takes work, even if you are not addicted to anything. Blunting your emotions and disconnecting from reality is not living life fully, if that is important to you. Getting off shakes up your relationships, too.

You might find adjusting to such a huge improvement in your health to be too much. I have thought many times, “I got well for this?”

You might be seduced back into your old, simple, familiar life of drugs, surgery, disability and complaining, as many humans prefer. Nothing wrong with that, if that is what you want. Just don’t say the Ascor didn’t work. Say you weren’t up for the change.

Eye of the Tiger

Here we are after our visit to the Barnes, taking selfies outside the Philadelphia Museum of Art, where Rocky, the fictional boxer who was willing to wake up at the crack of dawn, drink 12 raw eggs, and train harder than anyone by running up the stairs in the freezing cold, transformed himself into a champion.

Man, do I love an 80s music video, and how this drummer can’t quite keep the beat. Does that singer still have those sick leather pants?

I did not run up the steps, still a bit tired from the redeye that morning. But I easily jumped for joy. The human body needs impact.