Without Dr. Plance

What would I do without Dr. Plance? Is there any other doctor out there who would write me a prescription for injectable vitamin C?

I have wallpapered this town with reports of my treatment from Dr. Plance.

UCLA
Cedars-Sinai
Good Samaritan
USC Verdugo Hills
... and every doctor I see.

I get believed, that this is effective treatment. But would any of them put pen to paper and write me a prescription for injectable ascorbic acid?

It is medically indicated, as I have signs of C deficiency.

Ehlers-Danlos is a lot like scurvy.

I went to the Los Angeles Public Library and read all about scurvy. That disease was a big problem during the Age of Sail and a horrendous way to die. Someone dying of scurvy sounds a lot like me in my before I started injecting C. Sort of.

The Los Angeles Public Library is also where I received my education in genetics. I started with the children's books on DNA and kept reading. Amazing stuff, DNA.

I saw Dr. Eric Villain, Chief of Medical Genetics at UCLA. He has a career that is about something entirely different from collagen, so I don’t know why he saw me, but whatever. It was awesome! He is French. A Paris educated MD and PhD, world-famous, rock star geneticist, and let me tell you that seeing him was a high point in my career as a professional patient. The way he says those crazy genetics words with his sexy French accent, I have to hang onto the chair so I don’t hit the floor when I swoon. Let’s just say this made being me worth it.

Adventures in my genome at UCLA.

Adventures in my genome at UCLA.

I have an inherited form of scurvy. Sort of, I told Dr. Frenchie.

He grilled me like I was one of his students defending a dissertation. I was, like, shaking. Then he said, “No one will ever do a study on this,” referring to my improvements from injecting C. “No one can make any money on this. It’s not a drug.

But I don't want to be the only one feeling better! I begged. He understood. He was very kind to me.

Why not try telling your friends on Facebook? Maybe they can get some and try it.” Dr. Frenchie said.

Epic fail on that one, Dr. Frenchie. My sick friends tried. Apparently, every MD out there is too freaked out to prescribe injectable C, even though it safe, simple, harmless and medically indicated! Face palm. What a bunch of wussies!

No criticism of Dr. Frenchie here. That guy hooked me up! He rolled up his sleeves, went through my whole exome family study and ordered more sequencing. He got on the phone and told my insurance to pay for it. He did everything he could to help me.

I couldn't believe how lucky I was!! He was going to figure out what was my causing my Ehlers-Danlos!! I imagined how we would pop a bottle of Veuve (I'd sneak it in!) right there in the Children’s Hospital at UCLA (how French would that have been!) to celebrate solving the genetic mystery of me!!

My luck ran out. My fantasy never came to be. All that DNA work and Dr. Frenchie gave me another “cause not found.” Although he did find two “variants of unknown clinical significance” that he said he didn't think have any clinical significance. That was interesting. Anyone else with EDS clinical diagnosis have a strange SCN10A? Both my copies had never been seen before in the history of the world! How about that!

Then Dr. Frenchie told me not to come back, there are no more studies to do, and don't bother getting a whole genome because not enough is known and I won't get a cause found. I miss him.

I went to the Children’s Hospital of Orange County Ehlers-Danlos Conference. Missed it? It was great! You can see the videos here.

Waiting to meet the legendary Dr. F! Cross that off the bucket list!

Waiting to meet the legendary Dr. F! Cross that off the bucket list!

I got a chance to meet Dr. Clair Francomono, who was just as lovely as everyone has said. I told her about C injections. “You look really healthy,” she said. It’s true. I do. I totally look like I have EDS, except I don’t look like I was just hit by a truck. I emailed her my medical records. I caught her looking at me later during the conference. You look at me, Dr. F. I used to look as haggard everyone else here. No. Longer.

Then, for the rest of the conference, every chance I got, I cornered everyone I could whose last name is MD and told him about my treatment. Interest was high. I emailed each one my medical records. The doctors at this conference were an amazing group, exceptionally smart and compassionate, very dedicated, to take on large populations of EDS patients. We are not easy to deal with. So sick and so untreatable and so cranky. But so beautiful to look at and trying so so hard. We are endearing that way.

Maybe one of those docs I met is prescribing injectable C to one of you right now. C'mon!!!! Let’s find out if this will help anyone else!

Here I am at Global Genes Rare Patient Advocacy Summit (that's where the cool people with rare diseases go - register for the next one here!) at a session on how to get a study done. I did not say exactly what my treatment is. I let the mystery dangle in the air.

Looks empty, but this was the main ballroom and it is HUGE!

Looks empty, but this was the main ballroom and it is HUGE!

Later during the cocktail hour, the two guys from PRA Heatlh Sciences who were leading this session begged me to tell them what I am injecting. Just to be theatrical, I whispered it in their ears. Vitamin C.”

What??????? They exclaimed. And we all howled with laughter about how amazing and simple my treatment is. Then we drank California wine in the warm light of the setting sun at beautiful Huntingon Beach. California makes great wine.

The PRA Health Sciences guys gave me a great suggestion:

I wrote to a research pharmacist at McGuff Pharmacy, where I get my injectable C.

I wrote, “This is what I am doing with your ascorbic acid. My rare disease is pretty common. There is a world full of people out there with it. Maybe you would like to sell your product to them, too? Let me know if I can help you get a study together. I know a lot of bendy people.” I sent him my records.

I got a very, very gracious response.

Dr. Plance and I have come to an agreement. He has promised to outlive me. That’s a relief. Without him, I don’t know what I would do to get some injectable C. Plus, I’m not sure I even want to be around if he weren’t here to make me laugh.

I got him that poster from Comic-Con.

I got him that poster from Comic-Con.

The world needs more doctors with guts.

Madora Pennington