Let’s Learn About Rare Genetic Disorders

I ❤️  me a podcast. Some of my favorites:

Back to my point, let’s learn about rare genetic disorders, the special club we belong to, so we can understand our connective tissue disorder, Ehlers-Danlos Syndrome, better. I’ve got some good podcasts for you.

Lysosomal Storage Disorders

Lysosomes clean up waste in cells. What happens when a gene coding for this is harmful? An abnormal build-up of various toxic materials called Lysosomal Storage Disorders. About 50 types are known. They all get worse over time, causing permanent damage. Only a few LSDs have an approved treatment.

A Mother's Race to Find a Treatment for Her Daughter's Ultra-Rare Condition is a from the Global Genes’ channel Rare Cast about a very, very sick child born with an ultra-rare LSD. Yikes.

At the Global Genes 2019 RARE Drug Development Symposium Mr. Pennington and I had lunch with a scientist who has worked on a drug about to go into clinical trials for a lysosomal storage disorder. How exciting. This scientist was very charming. And very pleased with what he was doing with his life. He said he loved coming to this event, to connect with suffering patients and families, not something he does usually at his job.

The day before, I had bought a smattering of dairy products made from Amish cows as I love dairy as much as I love gluten and big pharma and Western medicine. Oh, wow, the buttermilk and cottage cheese, the likes of which I had never had. Oh, wow, that log of butter, which the TSA pulled out and inspected on the way home. Phew! They let me keep it. I have never had butter that good. Ever.

I brought the buttermilk to eat with my dessert at the conference. The tartness of the buttermilk set off the sweet so nicely, and we had a taste of every dessert. Yum.

Over dessert, I told this scientist the name of the candidate gene for hEDS, the one that looks like it might be causing our misery. Since he speaks DNA, he took a moment to mull it over. “Gene XXXXX,” he said. “Yes, that is an important one. That could be it.”

Good luck to the kids in his study, with his new drug, and good luck to us on our gene hunt. We shook hands.


Another worthwhile listen is from a Kind World episode about the rare genetic disorder Phenylketonuria, where the body’s failure to manufacture an enzyme causes toxic levels of phenylalanine to accumulate in the blood, resulting in irreversible intellectual disability (brain damage). This can be prevented if PKU babies are put on a very special diet that limits intake of phenylalanine. A diet so restricted is not easy, but how fantastic to manage a genetic disorder so simply.

Here is an article, with pics, and the episode: Prepared For PKU, This Couple Kept Adopting Kids With The Rare Genetic Disorder. What a beautiful story.

Glycogen Storage Disease Type 1B

Kind World also told this lovely story of Jonah Pournazarian, a very sick boy with ultra rare GSD 1B. His liver cannot break down glycogen into glucose. His current treatment? Drinking a mixture of store bought cornstarch and water every three hours, even during the night, because his body cannot maintain blood sugar levels. Cornstarch takes longer for the body to metabolize so it keeps his blood sugar stable. Miss a dose and he could die. He also lacks enough white blood cells, so he can get very sick very fast.

In this podcast, So Chocolate Bar, his best friend, another six-year-old, raised $1,000,000 so GSD 1B could be researched and treatment could be found. Awwwwww!!!!! Wish I had a friend like that. Or that I could write a book that good. Get ready to cry happy tears. You can buy a copy of So Chocolate Bar by Dylan Seigel here.

Dylan’s efforts helped fund a gene therapy trial on mice: Liver-directed gene therapy for murine glycogen storage disease type Ib.

Here is a story of a patient receiving gene therapy for a GSD 1A.

Fibrodysplasia Ossificans Progressiva


In Philadelphia, Mr. Pennington and I visited the Mütter Museum of the College of Physicians of Philadelphia, America’s finest museum of medical history, so they say.

I prefer the Musée d’histoire de la Médecine the medical museum at the Université Paris Descartes, mostly because I would rather be in Paris and enjoy a lovely glass of wine and foie gras when done. See pics from my visit here.

After our visit to the Mütter, we hit the Bloomingdales Outlet on our walk back to the hotel, where I got a silk Equipment blouse at a very discounted price, so that was super awesome. Okay, I got two. But a silk blouse is a necessity if you have hEDS. Your skin is so sensitive to touch. You need soft, sensual, breathable fabric that also insulates, because your body can’t manage its temperature properly. I own lots of cashmere for the same reason: medical necessity.

On display at the Mütter Museum is the skeleton of a woman who had Fibrodysplasia Ossificans Progressiva (FOP), a connective tissue disorder in which bone forms at the ligaments, tendons, and skeletal muscles, progressively locking joints in place and making movement difficult or impossible. Yikes. That’s a problem, and another genetic disorder that leaves the victim with permanent damage.


Hypermobility Ehlers-Danlos Syndrome

HEDS remains poorly understood. Imagine if it were as clear as the disorders listed above. That will take getting our cause found. You have signed up for the Ehlers-Danlos Society Global Registry, right?? And the HEDGE Study, right?? IF NOT, PLEASE SIGN UP NOW. THEY HAVE $1,000,000 TO FIND THE HEDS CAUSE. THEY NEED YOUR MEDICAL RECORDS AND DNA TO LOOK.

I wonder if parents of children with these other disorders are told to meditate or cut out gluten to cure them? LOL.

If I had $1 for every person who told me take a collagen supplement. Ay-yi-yi!

My body lacks the correct coding to make collagen properly. More collagen won’t solve that, although on the other hand I would definitely not deprive my body of proteins to build collagen by being a vegan, even if it is all the rage now.

Here is my most recent genetic assessment. It’s the best list our researchers could come up with to identify us. I’m still a Beighton 9/9 a perfect 10 for flexibility, definitely not less flexible. Oh well.

Now, thanks to daily shots of Ascor, I can heal and repair and build muscle and stronger collagen, so my super-human flexibility is manageable. I am always looking in mirrors and at pics of myself to see what I am doing with my joints, which is the only way to train myself not to over-extended and cause damage or trigger a pain response.


Hypermobility Ehlers-Danlos Syndrome is a prison of fatigue, pain and complications resulting from fragility. Do too much to us (too many injuries, too many unintended consequences from medications, too many illnesses, too many surgeries, too much trying to live), and we are going down, unable to heal enough to recover and get back to living, if we ever were.

My Story

I was born in screaming pain. Finally after two months of listening to me wail, a surgeon repaired my massive abdominal hernias. I still have the scars. I also have random severe abdominal pain from time to time, that no one can diagnose. It seems all that scar tissue gets irritated. I walk around smiling, although it feels as if there is a knife stuck in me. F*ck! I paste on a Flector patch, secure it with tape and get on with things. Eventually it calms down.

Based on what is known about the brain and how significant the last trimester of pregnancy and the first few months of life are, I suspect starting life in agony has had repercussions, like setting up my brain to be even more pain sensitive. F*ck! Even so, I faked being like the other kids until I started to grow at puberty. That was the end of any quality of life for me.

I went down for the count.

Until I began injecting Vitamin C everyday.

Then I got out of prison.

Mr. Pennington and I visiting the ruins at Eastern State Penitentiary. That day gave me a lot to think about.