The story of Lauren
My name is Lauren. I am 25 years old and have not only 1 but 2 rare diseases. After 23 years of having infection after infection & 2 years of almost constant antibiotic treatment I was sent to a doctor curious enough to figure out what is wrong with me. I was diagnosed with a primary immune deficiency (PID) and sent on to see an immunologist who finalized the diagnosis as Primary Hypogammaglobulenima. She also too interest in my case and noted that I had to many “issues” for them not to be related in some way. Thanks to those 2 doctors I got pointed in the right direction. I was diagnosed with a Primary Hypogammaglobulenimia and Ehlers-Danlos Syndrome. The two are not related, but we now the cause of my infections, heart problems, autonomic dysfunction, severe osteoarthritis & we now know why I have multiple dislocations every day and while I am sleeping.
Ehlers-Danlos Syndrome (EDS) is very frustrating. Fight, fight, fight is what we are told to do. Currently there are 6 types of EDS, but it is suspected that there are more. Currently there is no cure or treatment for Ehlers-Danlos syndrome. Part of the reason for the lack of a treatment protocol is that many doctors are unaware of the condition. EDS is so rare that a doctor can go there whole career without seeing (knowingly seeing) a case of Ehlers Danlos syndrome. It’s rarity & confusion with other connective tissue diseases can result in someone receiving a wrong diagnosis…or no diagnosis. Doctors tend to respond in 1 of 2 ways: “I have never heard of that before,” or “I remember reading a paragraph about Ehlers-Danlos in med school…[followed by many questions & examining everything].” Ehlers-Danlos syndrome is very commonly confused with, or by some considered, general hypermobility, or hypermobility syndrome. EDS is very different from hypermobility & it affects multiple systems of they body–not just the joints. Ehlers-Danlos syndrome results from a (or multiple) genetic abnormality that affects the body’s ability to properly make collagen. Collagen is in some way involved in every body system (skin, musculoskeletal, heart, vessels, nervous tissue, eyes, GI…). The abnormalities affect people in different ways. They can cause unnoticeable changes to severe life altering changes. Some forms of EDS are life-threatening, while others may go undiagnosed.
After 24 years and an onset of rapid degeneration of my joints over the past 18 months I received my diagnosis of Kyphoscoliosis type Ehlers-Danlos Syndrome (EDS VI) with 4 other undocumented genetic abnormalities. Meaning my genetic testing came back showing the marker for EDS VI in addition to the 4 other markers which the lab could find no record of similar abnormalities leading the doctors to believe I may have a new form of EDS, but until I get into a specialist it is unknown…I am on the bottom of a 3 year waiting list to see that doctor. The other has closed his waiting list. The prevalence of Kyphoscoliosis type Ehlers-Danlos is unknown but it is estimated to be about 1 in every 100,000 live births. My type of EDS (and some other types) can only be diagnosed with genetic testing which is not covered by almost every insurance company. EDS is “managed” by physical therapy & pain management along with managing other complications. My EDS affects my shoulders, knees, ankles, hands, elbow, spine, heart, skin & autonomic system the most.
People often say that the disease is painful, but I have passed the point of caring about the pain & it’s just frustrating/annoying. I may live each day having to relocate multiple joints multiple times each day with an occasional gravity check & face plant. My nights consist of waking 3-4 times because my shoulder dislocated rolling over and has been out for so long the numbness/tingling woke me. A year and a half ago I was an Olympic hopeful athlete and now I play wheelchair basketball. On a good day walking up the stairs is a slight struggle & on a bad day I can’t get up to walk without collapsing. I have lost the ability to move my right foot & now have to wear an AFO to walk. Sometimes I need to use crutches & other days I feel like a million bucks, but I still can’t run, jump or walk like I use to. If I fall I can’t get up or struggle greatly to do so. I get IVIG infusions every other week. The first thing I see every morning is my IV pole and med cart.. Physical therapy is a daily thing for me & I go to the rehab hospital 3 times each week, I have had 18 surgeries/procedures in the last 6 years & have more to come this year…did I mention it’s still January. I have a congenital heart defect and it’s worsening because of my diseases. When I get a small scrape or cut it bleeds forever and takes over a month to heal. Any adhesive from a bandage to tagaderm, tape & even paper tape will tear off my skin and scare. My disease is degenerative and I know right now is as good as it’s going to get. I know I am going to get worse & I know I will one day (proable fairly soon) I will be unable to walk because of the dislocations & weakness.
I don’t let my diseases stop me because it is all just a part of life & I CAN’T control life! I can, however, control whether to focus on the positives or negatives. I choose to embrace every positive moment and allow the negative ones to make them that much more special. My goal is to continue living my life and enjoying it to it’s fullest while creating awareness about rare diseases because I don’t only have one (EDS) but I have two (primary hypogammagloulenima). Doctors are often taught the saying, “when you hear hoof beats thing horse NOT Zebra,” when they are in medical school. I say…
“Think ZEBRA!!!!”