I read this compelling story on The Global Genes site for rare diseases. I wanted to share from a woman’s point of view how it is to live with Ehler’s Danlos.
Like many children, growing up, I had a nickname. My father called me “Grace,” because I was quite honestly the most ungraceful child around. My parents chalked it up to me being uncoordinated, after all I didn’t learn to walk until I was two and my low muscle tone made athletics impossible. Even a year of ballet didn’t help me. By the time I was in my teens, I suffered repeated sprains, horrible varicose veins, joint pain, and constant bruising. You don’t think much about it when your mom is just like you. I thought I had her “genes” – how right I was but not in the way I thought. When she died of a brain aneurysm at 52 I was devastated, her doctors kept saying she had “something” but they never knew what it was. I had hoped that it was something I wouldn’t encounter but every time I suffered a major headache, I was scared.
I grew up and became a mother myself. I gave birth to two children and my youngest son was just like me – always falling, bruising, subluxing his joints. His skin tore easily, he had headaches, and he was small for his size. I had mentioned it to his pediatrician, but they weren’t worried. I tried to put it out of my head. After all, my doctors kept reassuring me that I was fine despite my constant complaints of joint pain and dislocations. I was even told it was normal for me to cough up blood despite never having smoked. When you are constantly told you are fine, you believe it.
Then last year, at the age of 40 I wasn’t fine. My aorta dissected and during the surgery it ruptured along with my iliac artery. I didn’t fit the profile for it, so they did scans and found several aneurysms in my body. They looked at my history, at my mom’s history, and then verified their suspicions with a blood test. I was diagnosed with vascular Ehler’s Danlos Syndrome – a rare genetic disorder that affects the collagen in our connective tissues. It’s autosomal dominant and it is deadly. Even over the last year, I have faced obstacles that I never dreamed I could overcome. My spleen ruptured, my lungs have had embolisms, my intestines have been blocked. But, I have fought for my life because my family needs me. My son, who also tested positive needs me. This disorder is rare and we need hope – hope for tomorrow – hope for treatment – hope for a cure. I can’t just lay down and let this disorder take my life without at least trying to spread awareness. For as little or as long as I have, I will keep trying. My son deserves a future.
(Editor) Ilana Jacqueline is the Managing Editor of The RARE Daily at Global Genes. She assists the patient community…