In our household, “E” is for Ehlers-Danlos Syndrome… at least, for now. Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Ehlers-Danlos syndrome is uncommon. (Credit: Mayo Clinic website)
Almost 2 weeks ago, I posted about the kids’ therapy update and the new specialist that they were seeing that day. We saw that new specialist (Dr. R.), and we were so happy with her caring, knowledge, and determination to help us find a name for what the kids have. As in the past, we are going to continue trying to find the answer by continued appointments with DD12.
What was the outcome of this appointment?
Dr. R. spent so much time with both kids, measuring them and bending them in ways that I could not watch, ways that no one should be able to bend. Even Daddy got his measurements taken. This was quite humorous to watch because the room was so small, and Dr. R. was having to climb over the exam table to measure Daddy’s arm span.
Because DS8’s body structure is a different than DD12, Dr. R. isn’t sure that DS8 has the same disorder; however, DD12 didn’t have features as pronounced at age 8 as she does now, either. This is why further testing will be done on DD12 for the time being.
After all the history, measurements, and bending were completed, Dr. R. announced that she would like to do some thinking and research and then call us on Monday (11/7). She also told us a few of her thoughts at that moment. First, she confirmed what we have known and no other doctor would say. DD12 has “vascular fragility”. Her blood vessels are fragile as evidenced by petechiae (broken capillaries) due to heat (warm socks or warm-hot showers). We are able to trigger them for doctor appointments so that the doctor can see them fresh. Second, she did confirm that DD12 does have a connective tissue disorder. She just doesn’t know exactly which, yet.
The good news: We have a written diagnosis of “Connective Tissue Disorder NOS”. While this doesn’t seem like much, Dr. R. is the first doctor to put it in writing. The “NOS” means “No Origin Specified” and means that we don’t know exactly what type of connective tissue disorder that she has.
The two major disorders that have been mentioned are Marfan Syndrome and Ehlers-Danlos Syndrome (EDS). For the purpose of this post, I am going to do a brief run down on EDS. As mentioned at the beginning of this post, EDS is a inherited disorder that mainly affects blood vessels, skin, and joints. This is due to faulty collagen, a protein that gives strength and elasticity to connective tissue. EDS is broken up into several subtypes, depending on the patients symptoms, and the types range from mild to serious. It seems that new genetic tests are being developed daily; however, not all of these disorders can be 100% diagnosed with genetic testing.
While we don’t know the exact disorder name for DD12’s connective tissue disorder, Dr. R. is concerned about her fragile blood vessels. When she called me today (11/7), she told me that we should get DD12 a Medic Alert bracelet that says Ehlers-Danlos Syndrome Type IV on it, so if there is some sort of trauma, the hospital staff would be alerted to the fact that they need to closely check DD12’s major blood vessels to make sure that they haven’t ruptured. Whoa! That’s a really scary thought, isn’t it? While this is a frightening and sobering road that we are on, we are so thankful that we have been led to a doctor who cares and wants to help us further along our search for a final diagnosis.
What’s next on the agenda?
We will likely get to see a new geneticist (at least, I hope), and DD12 will also have a follow-up appointment with Dr. R. I am working on getting that Medic Alert bracelet, but I am amazed by all the different types of Alert bracelets are available. DD12 wanted a pink one with beads, but something in the back of my head made me make a couple of phone calls first.
I called our local emergency department and our ambulance service, and I was stunned by what both entities (a charge nurse and a director) told me. They said that they only look for the old fashioned Medic Alert bracelets. I asked if they turn beaded bracelets around to see if they have Alerts on them, and both people said, “No.” I find this disturbing because how many people stick with the generic Alert? Well, poor DD12 will have to stick with a generic Alert bracelet with the standard red so that it will be seen if necessary.