On May 15th, International MPS Awareness Day was observed. For most of the world, this was not a grand event. From what I could tell, it was business as usual — just an ordinary day. But “ordinary” is something that people living with rare, complex and chronic disorders can only imagine.
I’ve lived with MPS (mucopolysaccharidosis) Type1 all my life. Growing up with this condition but not yet having the diagnosis, I didn’t realize that the symptoms I was experiencing on a daily basis were actually symptoms of a rare disorder.
MPS Type I causes a deficiency of the enzyme needed to break down complex carbohydrates into simpler molecules. This leads to many physical symptoms and medical problems. My form of MPS Type I is very rare, with an estimated incidence of about 1 in 500,000 live births. I have a healthy twin brother, and there was no known history of a genetic condition in our family.
I am 30 years old now, but was not diagnosed with MPS Type I until I was 21 years old. A lot of the symptoms and medical problems that I now have are due to a delay in diagnosis.
I have a form of this disease that is generally considered mild. But there is nothing “mild” about any of the MPS disorders.
I can remember, as far back as kindergarten, watching my fellow classmates doing ordinary things — like sitting cross-legged on the floor or doing jumping jacks. I can remember watching out of the corner of my eye and wondering, “Why can’t I do that?”
I could never straighten my knees, elbows or shoulders fully. Many people with MPS Type I have joint deformities (contractures) that can affect mobility – and eventually cause pain.
Pain management has become a major part of my day-to-day life, and I am so thankful to have a good specialist for this. This enables me to go about my life with just a few modifications.
Cardiac issues — valve abnormalities in particular — are a frequent finding in MPS Type I. I had been diagnosed with bicuspid and aortic valve regurgitation by age three. Mitral valve problems began around age 13. These are on-going medical problems for me, to this very day.
Neurological issues, particularly hydrocephalus (build-up of spinal fluid in the brain), are also associated with MPS Type 1. Starting around first grade, I was plagued with headaches, nausea and vomiting, which are symptoms of hydrocephalus. Migraine was the original diagnosis, but migraine medications never helped.
I was seen by umpteen specialists as a child and a teenager. My physical presentation was atypical for MPS Type 1. For example, I am of normal height and have normal finger length, despite other hand abnormalities. Once genetic testing was begun at the University of Wisconsin, several genetic disorders were considered, and chromosomal and other genetic testing was performed.
But I was not tested for MPS Type 1, so, all genetic tests came back negative.
When I reached adulthood, the nurse practitioner in my primary care physician’s practice referred me to a neurologist (I had severe carpal tunnel syndrome). In turn, I was referred to other specialists, including a new cardiologist. The multiple heart valve problems eventually raised the red flags — it all might be connected!
I’m guessing that these are the reasons that an underlying genetic disorder wasn’t considered for so long.
I’m just one of millions of people living with rare disorders who have gone through this sort of odyssey before finally obtaining an accurate diagnosis. That’s one of the reasons that awareness days are so important. These special days provide an opportunity for patients, their families, friends, and support organizations to raise awareness and understanding of specific diseases.
Thinking back, what stands out the most for me in my medical saga are (1) the doctors who listened and (2) the doctors who didn’t. Those who really weren’t listening were the ones who implied that “it was all in my head.”
Maybe one day, with increased awareness about rare disorders, more physicians will start thinking outside the box. My cardiologist, Dr. Michael Earing from Children’s Hospital of Wisconsin, is one such physician. I had my first consultation with Dr. Earing when I turned 21 — and the rest is history.
What has been your experience? How many times have you been told that it’s all in your head?
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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