It has been suspected (jokingly) that I’m a mutant creature, now I have the genetic proof of it. And with the proof comes a new diagnosis. I guess I really need to start at the beginning of the “story” since I haven’t posted about it publicly much since I didn’t know exactly what would become of everything. Though technically, I suppose the beginning was conception, or whenever the gene mutated. But I’ll start at the beginning of my introduction to genetic connective tissue disorders.
While troubleshooting unexplained pain in my foot, my podiatrist commented on my hypermobility that caused me to be very prone to spraining and twisting my ankles. He commented that he wondered if I had something called Ehler’s-Danlos Syndrome or Hypermobility Syndrome. At this time, I was referred to a rheumatologist at the Cleveland Clinic to have an examination of my joints and tissues to evaluate the possibility that my hypermobility was a bit more than just being extra flexible.
The rheumatologist didn’t have much to say, but referred me to a geneticist who did a family history, physical examination, and sent me for testing on my heart and eyes. The results of the tests showed that I did have some connective tissue problems which mainly were evident in my eyes and joints. So the geneticist ordered some blood tests and the period of not-so-patient waiting began.
The first two blood tests came back normal, so a third blood test was ordered. About a week ago, I got a phone call from my geneticist who told me they had some results, but they weren’t complete. They found a mutation on the sixth chromosome which affects the formation of collagen.
It is time for your quick biology lesson about collagen. Collagen is made of proteins which form long chains. Three different chains “twist” to form a triple helix. Collagen is especially evident in the connective tissues, and is vital in the production of tendons, ligaments, skin, cartilage, bone, blood vessels, the digestive tract, the vertebral discs, and the cornea of the eyes.
The COL11A2 gene contains the “instructions” for the formation of Collagen, Type XI, Alpha 2, which is one of the strands which makes up the triple collagen strands (there are a total of 27 different kinds of strands). Because I have a genetic mutation on the COL11A2 gene, that specific type of collagen isn’t made quite right, which causes problems in anything that contains that strand. The diagnosis related to the mutated COL11A2 gene I have is Stickler Syndrome, Type III. It is named after Dr. Gunner B. Stickler who was the first to identify the collection of disorders which he named Hereditary Progressive Arthro-Ophthalmopathies.
As the name suggests, the disorder is genetic (hereditary) and progresses as the individual grows older (progressive). Some organs are more affected by certain strands of collagen, the joints (arthro) and eyes (ophthalmo) are the most commonly and severely affected areas in those with Stickler Syndrome. Type III was originally known as the non-ocular type because it was believed that there wasn’t eye involvement in this type, however further research has shown this may not be true. And in my case, I have severe ocular involvement. Later I will post more information regarding exactly what ways this new diagnosis affects me as well as exactly what it explains.