The Rare Type of Ehlers-Danlos Syndrome We Need to Talk About

It’s one thing living with a rare disease, and it’s another thing living with an even rarer form of it. While Ehlers Danlos syndrome (EDS) is rare, medical providers are becoming more aware of some forms of the disease — mainly hypermobile type Ehlers Danlos Syndrome (hEDS). I have a form of EDS called kyphoscoliotic type Ehlers-Danlos Syndrome (kEDS), but there is also a chance I may have a whole new form of EDS that has not yet been named.

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

kEDS is caused by mutations in the PLOD1 and/or FKBP14 genes. It can be diagnosed with a urine test and confirmed by a genetic test. kEDS is one of the few forms of EDS that is considered to be recessive. This means that the trait has to be inherited from both parents and the likelihood of it occurring spontaneously is very unlikely. Patients with kEDS have extreme hypermobility of the major joints. Early-onset kyphosis can be progressive, scoliosis and hypotonia at birth. Like patients with vEDS (vascular type Ehlers Danlos Syndrome), they have a higher risk for spontaneous vascular/aortic dissection. kEDS patients also have a risk of retina detachment. There is very limited information available on kEDS, and most of what is available is repetitive on what is typically seen at birth. There is one study showing that the severity in presentation can vary greatly just like with other forms of EDS.

The most frustrating thing I have found with having kEDS has been the lack of information available and lack of recent information to rely on. In particular, I want to know more about the risks of conceiving/carrying a child. kEDS greatly affects the spine which can alter one’s ability to carry a child. I have searched and searched, but still, my questions go unanswered. Most of my doctors have never heard of kEDS, and if they have, I am their one and only patient with it. They also aren’t able to answer my questions about it due to the lack of available information. The information available online is old and based on severe cases of the disorder.

kEDS can be obvious at birth. I was not lucky enough to be diagnosed at birth, but when I look back at photos, it is clear that something wasn’t right. In photos, I can see obvious signs of hypotonia, meaning a lack of muscle tone. I have progressive kyphoscoliosis and severe hypermobility of the shoulders, knees and hips. My back, by far, is the biggest problem for me. I have fought to maintain my mobility and the fight is something I will have to continue. My GI system has also suffered greatly, resulting in the need for most of my nutrition to be given through a feeding tube.

Luckily, most forms of EDS are managed in a similar way, and do overlap symptom wise in many ways. The risks are the main things that differ among the forms. For me, the unknowns and inconsistencies (such as the risk of a gradual loss of mobility) are what I fear most. The best thing I can do is just keep living day to day using diffusion and resilience.

For more information on kEDS and other forms of the syndrome, see The Mighty’s EDS Condition Guide or Ehlers Danlos News: Kyphoscoliotic EDS.