Frequently Asked Questions

What type of Ehlers-Danlos Syndrome does Rachel have?

According to Dr. Claire Francomano with Johns Hopkins, ed Rachel has classical type 1 with a rare mutation that causes type 2 involvement but her skin is not quite as hyper-elastic as normal type 2 EDS. However, order 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. 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.

 

Rachel’s stem cells would be used to grow the new trachea. Wouldn’t it have defective collagen, too?

They are growing up a plate if her stem cells right now at the National Institute of Health lab. When it is ready, they will do testing on it to see if they can re-engineer the problem (which would be a huge break through if they could).

This testing will 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.

 

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

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