@lisalucier, my mother and one of her sisters were hypermobile and had several unexplained things happening, but of course no one understood EDS back then. I myself am not hypermobile, but have also had a few things going wrong (such as my uterus tearing at end of second pregnancy). Then my daughter came along with a multitude of issues which really kicked in during her late teenage years and got worse with every pregnancy, all unexplained. Chronic pain, chronic debilitating fatigue, bones that easily break, hair falling out, terrible stretch marks, other skin issues, IBS, multiple prolapses, brain fog, and lately she has been quite anxious. The list is just too long, and doctors have no answers. Eventually she was diagnosed with hEDS and two of her children are also hypermobile and one already struggles with IBS at age 8. That gives it a name, but still no answers as to why and how to make things better for them. As a mother and grandmother and now retired, I have made it my mission to read as much as I can so I can understand and try to help. My daughter, my one grandson and I all took Direct to Consumer DNA tests as it was impossible to get DNA testing done through the medical system here in NZ, even if you are prepared to pay out of pocket. We then uploaded the test results to Promethease to get a report that leads to more information on potential health issues. I spent hours on it but without knowing what to look for, it is difficult. Until I stumbled onto an article on the internet, from March this year on “The Prevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers-Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility Clinic”.
In short, a dr at Tulane University has found a link between hypermobility/hEDS and the MTHFR gene mutation. This is big as there has never before been a gene linked to this affliction. I then went back to our Promethease reports and found that I have one copy of the MTHFR C677T morphism and my daughter and grandson both have two copies of it. This explained so much! It also pointed me in a specific direction to concentrate my own readings on. It is all still very new for us and still so much to learn. As a first step, my daughter did blood tests, checking homocysteine levels, B6, B9 and B12. Her results came in early this week and the most alarming thing is the toxic levels of B6. The report says she is probably overdosing on supplements, when in actual fact she is taking no supplements at all at this stage. We will be doing a follow-up test before she goes back to the doctor, but now we will at least be able to go armed with information and results already in hand and hopefully, get help and some relief. Sadly, where we live, there is very, very little knowledge around any of this and especially women are constantly fobbed off with comments like "you need to practice positive thinking", "manage the pain with happy thoughts", "the pain must be psychosomatic because there is nothing wrong with you". So yes, a 23andMe test, two Ancestry DNA tests, Promethease reports, a hEDS diagnosis and many hours of reading and separating the wheat from the chaff. And there is a lot of "chaff" out there!