Most people have never heard of connective tissue disorders (after all, they are rare diseases!), so today I’m explaining what they are, how they affect people, and how to tell if you have one. And since I have one, hopefully this will help put my other chronic illness posts into context. And if you have an undiagnosed illness, who knows – maybe this will turn out to be your diagnosis (that’s how I started getting answers!)
**If this is your first time visiting Jelly-like Joints for chronic illness purposes, please read my disclaimer here first.
What is Connective Tissue?
Connective tissue is found all over our bodies. It forms organ walls, blood vessels, and the outer coverings of our muscles and nervous system. It also helps hold our joints together, and is part of our skin. Basically, any body part you can think of probably has connective tissue around it or in it to help hold it together. (Reference: http://www.marfan.org/about/marfan).
What is a Genetic Connective Tissue Disorder?
When someone has a genetic connective tissue disorder, there is a problem (mutation) in their DNA that keeps their body from making healthy connective tissue. Because of this, people with connective tissue disorders end up with stretchy, weak connective tissue that causes problems throughout the body. (Reference: http://www.marfan.org/about/marfan).
How severe are Genetic Connective Tissue Disorders?
To some extent, it depends which genetic mutation the person has. For some, such as vascular type Ehlers-Danlos Syndrome or Marfan Syndrome, there is a high risk of life – threatening complications. But if the connective tissue disorder is diagnosed, doctors can give the patient medicines or do surgery to prevent these things. For others, such as hypermobility type Ehlers-Danlos Syndrome, there is a much lower risk of these complications.
No matter which connective tissue disorder a person has, there is a very high chance that it will interfere with the function of most of their body. Here is a more detailed list of the common problems associated with connective tissue disorders.
The severity of a particular mutation can also vary from person to person. Some people find that they are mostly healthy. Others are mostly healthy as kids, but get more and more sick as they get older. And some are very sick their whole life. My personal observations from other blogs and from the Marfan Conference are that it is struggle for people with these illnesses to work even a part-time job, because as time goes on there are more and more health issues to deal with. People do eventually get better at managing their health issues, but there’s always a new one to disturb the balance.
How do I tell if I have one?
Ideally, a doctor would notice that you have a lot of the signs and symptoms and refer you to a pediatric geneticist (even if you’re an adult!) who has experience with connective tissue disorders and can tell you if you have one (note: outside the U.S., you may be referred to a rheumatologist instead). But connective tissue disorders are rare diseases, so most doctors still don’t realize they will actually meet people in real life they need to help get diagnosed with one! The Marfan Foundation has lists of signs of connective tissue disorders that can help you decide if you should try to see a connective tissue disorder specialist so they can determine if you have a connective tissue disorder. For the signs of Marfan Syndrome, click here. For a list of the other connective tissue disorders and their signs, click here.
So, that’s it for Part 1. I will try to finish Part 2 soon so you can learn all about hypermobility, the best treatments, and patient resources. 🙂 Feel free to share any questions or comments below.
Oh, and if you’re wondering which one I have – I don’t actually fit any of the usual “boxes” for diagnosing connective tissue disorders. Apparently I am closest to Marfans, but my geneticist says we are officially calling what I have “connective tissue disorder not otherwise specified.” And if someone ever gets around to studying my specific mutation someday, then probably what I have will get named after them. That would make my life much easier! 😀
❤ The Bookish Crafter