The Road Continues Past Ehlers-Danlos Diagnosis

April 29, 2024

Dawn and her eldest grandson

Almost 10 years ago, Dawn wrote about her diagnosis with Ehlers-Danlos syndrome. We asked her to provide an update to the rare disease community about her life with Hypermobile Ehlers-Danlos syndrome (hEDS), and related conditions that she has also been diagnosed with like Marfan syndrome (Marfan) and PoTS (postural tachycardia syndrome).

The last 10 years have been difficult ones filled with divorce, moving constantly, and all of the other stresses that come with a limited income and the stresses of being permanently disabled. While I do have some great days, I have also broken several bones, more torn tendons, torn ligaments, herniated cervical discs (fusion surgery for c4-c7), and spent over a year struggling to lift a drink to my lips. I’m still facing issues but I often put off testing to never getting any testing at all because it is just too much for me, again. But I am still walking, 13 years out of the chair!

Ellie (left) is a medical alert dog for POTS, blood sugar, and apnea. The Yorkie was a recent rescue that has since been rehabbed and rehomed.

There have been the good things one of which, I am now the proud grandmother of two boys, but they are already showing some signs of one if not both. But they are happy, smart, healthy, and strong, and I will remain hopeful that they won’t have either, or it will be a mild case. But signs are not great, especially with the oldest.

Neither hEDS or Marfan is technically considered a degenerative condition, as it shows how quickly our delicate bodies will break down. I am plagued by other conditions such as several forms of arthritis, skin conditions like psoriasis and Hidradenitis Suppurativa, Positional Orthostatic Tachycardia Hypertension which caused a heart attack at the age of 40, gastroparesis, Mast Cell Activation Syndrome, diagnostics for Mastosis, and more, all before two rounds of COVID-19 early first wave. My weak immune system has even started catching shingles regularly. I have had over 20 surgeries in my lifetime now and in line for several more if I follow through. It is often more about picking my battles and seeking the best quality of life.

A few of my biggest lifetime finds for dealing with hEDS and Marfan, and anything else is:

1. Awareness – we need more medical staff to recognize these rarer disorders, and to be brave enough to ask each patient about what it means for them. My condition is rarely exactly like another person’s even if the staff know them well.

2. Better FDA clearance – medications, treatments, and surgeries for the rarer conditions. There are thousands of rare diseases and conditions and this type-specific labeling infrequently uses the rarer ones. And this affects what insurance will help us cover too.

3. Therapy and Mindfulness – If it is physical therapy or mental health therapy, I do best when you give me a list of tangible ways I can help myself physically or mentally. And having someone to talk to about my issues whether it be physical or mental pain helps. It is not venting, it is processing. Sometimes personally, it is just coming to know what is a regular level of pain and tuning it out for the new or strange.

4. Community – If it is local support groups, online support groups (given a healthy environment), or just that great best friend or therapist it all helps. Reach out, talk about it, inform, and share your experiences. Remember even your struggles can help others know they are not alone.

5. Build your medical team for your needs – you are the boss, but you should know when to let go of a bad doctor. Do not let that one bad doctor turn you against them all. There are some eager to learn to help you. Learn your rights and responsibilities to keep the best ones too. Remember to thank your nurses and techs. Keep teaching them and talking about your experiences.