Michelle

Diagnosis: Fibrous Dysplasia, Ehlers-Danlos, Idiopathic Hypereosinophilia, Still Testing…

I have been diagnosed with a few rare diseases. Oddly enough other than the fibrous dysplasia (a tumor in my tibia) I was diagnosed with when I was a teen, I didn’t get diagnosed with my other diseases until after my kids were diagnosed with there rare disease. I have ehlers danlos syndrome which we knew something was wrong my entire life but nobody could tell me what until recently. We stopped looking when I was younger because nobody knew. Although my doctors say I am one of the most hyper mobile patients they’ve seen, and I have pretty much every symptom of it as well, it just wasn’t as well known when I was younger. When I got diagnosed it explained a lot and now my doctors are able to help me better. I have also been diagnosed with idiopathic hypereosinophilia, which is really rare,  triggered by what my doctors believe was stress. After I lost two kids to rare diseases I got very sick, but I thought it was from dealing with the losses. My doctor did labs and sent me right away to the huntsman cancer institute. After months of testing and trialing different meds and things I was finally diagnosed. We recently lost another little one we adopted to a rare disease as well so that stress has been difficult for my doctors to keep a handle on my disease. I have it in my bone marrow and it pretty much affects everything, but my most concerning areas are, heart, lungs, gastrointestinal and nervous systems. I do monthly infusions of a medication and take other meds daily to help with this disease. My doctors feel there is more to my disease and are researching to try and get more info. I also have a rare iron disorder where my body doesn’t absorb iron and it’s allergic to it. I do iron infusions that I get pretreated for to try to keep me from having reactions. All of these things I have been diagnosed with have lots of symptoms and other diagnosis’ within them. I see many specialists that try to keep my body functioning as well as it can be. I’ve been able to connect with others that have the same or similar diagnosis which has been helpful. But what really keeps me going is my kids. They go through so much with their disease that I feel like I can’t complain at all with what I have going on. They are so strong and amazing! They are my hero’s!

About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

Leave a Comment