FAQs

What type of Ehlers-Danlos Syndrome does Rachel have?

Initially, Rachel was diagnosed by two of the top EDS specialists at Harvard and Johns Hopkins with Ehlers-Danlos Syndrome Classical (Formerly known as Type 1) with a rare mutation that causes Type 2 involvement but her skin is not quite as hyper-elastic as normal Type 1 EDS. With the recent updates in the EDS diagnostic criteria that were set by a convention of world specialists in 2017, they now have reclassified Rachel with Hypermobile EDS or hEDS (formerly would have been known as Type 3, Hypermobility Type). Recent research apparently shows that the patients that have the most health trouble from EDS affecting multiple anatomical systems, typically have hEDS.

All the EDS specialist who have reviewed her case agree that the level of respiratory involvement that she has is unprecedented with any case on record thus far.

Do not believe the notion that only vascular EDS can be life threatening. A young girl who died recently had type 1 EDS and the EDS community have lost several young people with hEDS in the last few years, some leaving behind their spouses and very young children. This is an example of misinformation common about EDS. The truth is that it all depends upon the tissue that is affected and the degree to which it is affected. While many people with EDS will not have the dire consequences seen by som, it can be an extremely difficult, painful, and even fatal disorder.

 

Why do I keep reading about zebras here?

Go Beyond Zebra

Theodore E. Woodward was a renowned University of Maryland, Baltimore researcher in the field of Medicine. In 1948, he received a Nobel Prize nomination for his role in finding cures for typhus and typhoid fever. And most notably to people who suffer from rare diseases like Ehlers-Danlos Syndrome (EDS) he is credited with the aphorism:

“When you hear hoof beats behind you, don’t expect to see a zebra.”

Medical students are given this quote as a way to let them know that they should look for a common diagnosis for the symptoms they are given instead of the possibility of it being a rare case. This is why people with EDS refer to themselves as Zebras. They are the unexpected. They are the monkey wrench in the works of medical diagnosis.

There is a very famous doctor whose quote should be the new one that medical students are taught. It is a little more profound. It is more thought provoking. It should serve as more of a challenge to doctors. It tells them to not accept the standard assumptions as probability. It doesn’t tell them to look for the rare or common cases. Instead it inspires them to research everywhere for answers. To “think outside the box.” If zebras are the exception to the rule, then there must be an exception to the zebras as well.

So I give to you that quote by that very famous doctor:

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“There’s no end to the thing you might know, depending how far beyond Zebra you go.”

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Indeed. What will you find if you refuse to stop looking? What would have happened if everyone had followed Mr. Woodward’s belief? Would EDS victims be told it was all in their heads? Would Edvard Ehlers and Henri-Alexander Danlos have been told that they were wasting their time?

I appreciate inquisitive researchers and doctors. I am grateful for the interests that spark their desires to find answers. But they can only do so much. We need to help by spreading the word and sharing information. The more we can do, the more they can do. Do what you can to help the medical profession to go “beyond Zebra.”

And the famous doctor with the quote? He wasn’t in the medical field. He wasn’t even a researcher. He was a writer and a cartoonist. Like the man with the “hoof beats” quote, his name was also Theodor (without the e at the end). But you might know him better by his pen name…..Dr Suess.

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“There’s no end to the thing you might know, depending how far beyond Zebra you go.”
-Dr. Suess.

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– Bruce Gunn
Bruce Gunn ©2011

 

Why do I keep seeing talk about “spoons” regarding people suffering from Ehlers-Danlos Syndrome and other invisible or chronic illnesses?

Great question! We wondered the same thing initially. It’s a way to describe the singular way that the disorder limits one’s life. There’s a great explanation over at Wikipedia. Check it here here to learn more: Wikipedia: Spoon Theory

 

If the technology for the stem cell based transplant is improved in the future and this becomes a possibility, wouldn’t Rachel’s stem cells would be used to grow the new trachea? Wouldn’t it have defective collagen, too?

Yes, they would. They actually grew up a plate of her stem cells (to do tests prior to the initially planned transplant) at the National Institute of Health laboratories. Ultimately, there were no unusual abnormalities found, at least as far as being able to successfully grow more “healthy” stem cells that matched her original cells. Obviously, at this point, however, they still have the genes that cause the dysfunctional collagen.

This testing is also be used to determine what base scaffold type to use to grow the new trachea and bronchial branch on. If they use the bio-synthetic scaffold, it is stronger and will likely hold up better.

Finally, EDS seems to be triggered by conditions that were present when the original tissue was developing. If her mother had an infection or a vitamin deficiency while Rachel’s airways were developing, it could have cause the EDS to target these tissue. Obviously, under perfect lab conditions, these conditions would not exist in the new airway development cycle. It’s a “fingers crossed” kind of scenario but it could work and be a huge break through for EDS sufferers everywhere.

Worst case scenario is that the new trachea would likely last as long as the old one did, which would mean we wouldn’t have to face this again for 30+ years.

Ultimately, the absolute dream would be to see if they could actually re-engineer the problem (which would be a huge break through if they could). However, this is likely going to be in the very distant future.