Sofia's Helping Hand

Ehlers Danlos Awareness Month - Day 16

My Type, My Experience

I have a vascular type of EDS diagnosed with a gene that is still being researched, the MYLK gene. I was originally suspected of having Marfan Syndrome despite not having the tall stature because I had many of the clinical complications. As I have gotten older I have fallen more into the vascular complications of EDS. Last month I was rushed to the emergency room and hospitalized for my first rupture, I have aortic and heart valve involvement, syrinx, scoliosis, pectus, bad eyes, severe anemia (requiring infusions), bruising, very visible veins, POTS, MCAS, bad feet, and a 9/9 on beighton scale among other things. My mom is also diagnosed with multiple surgeries, organ loss, severe anemia, and lung complications. A couple weeks ago my family and myself went into genetics to do a very detailed workup to see if new things were found since I was tested over 5 years ago and my family did not originally go through full workup. I am hoping for more answers or to at least help science have more answers. In 2019 the MYLK gene was added to the connective tissue panel without a real known understanding of where it goes. Maybe another EDS subtype or a new connective tissue classification is in the future?

*Some General MYLK Knowledge*
MYLK gene mutations are increasingly recognized for causing a heritable thoracic aortic disease (HTAD) that overlaps significantly with Ehlers-Danlos syndrome (EDS), particularly vascular EDS (vEDS). While not currently a standard, "named" subtype of EDS, MYLK (Myosin Light Chain Kinase) is included in comprehensive connective tissue genetic panels to identify patients with vascular complications and joint hypermobility, as noted in a BCBSM policy document and a PubMed Central article.

Vascular Overlap: MYLK variants are primarily associated with thoracic aortic aneurysms and dissections (TAAD), which are also major features of vascular EDS (vEDS), similar to COL3A1 mutations, explain Medicover Genetics.

I hope to continue to work with the Marfan Foundation & Ehlers Danlos Society to push awareness and research for people like me!

Day 15 – Wear

Friday, May 15, 2026, is global Day! A day dedicated to raising awareness of vascular Ehlers-Danlos syndrome (vEDS) and showing support for people living with this condition. To take part, simply wear red, take a selfie, and post it on social media using the hashtag .

What is vEDS?

vEDS is a genetic connective tissue disorder that causes the blood vessels and organs to be fragile and prone to tearing. The complications of vEDS can be life-threatening and include aneurysm, dissection, and rupture of the arteries and rupture of organs. vEDS may also cause a variety of other symptoms, including extensive bruising and spontaneous pneumothorax. vEDS can cause symptoms in many different areas of the body, so people with vEDS may require multiple providers in different specialties to manage their care.

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sofiashelpinghand

Ehlers Danlos Awareness Month - Day 14
Something I Have Learned From Research

No two people with EDS are the same. I have also learned that we are still missing so many answers for connective tissue disorders. I honestly would not be surprised if there are a lot more subtypes and other connective tissue disorders. We need so much more research in these areas of medicine.

Day 14 – Something I’ve Learned From Research

Share a research insight that changed your understanding, gave you clarity, or gave you hope.

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