Every person living with Myhre has unique struggles and experiences. A common thread of this rare disease is a lack of understanding and misdiagnosis. At 50yrs old, Patti Schultz just learned she has Myhre syndrome. Here’s what she had to tell us about her long road to diagnosis.
Back in 1970, babies who were significantly premature did not have a high rate of survival. Born at 2 pounds, I spent my first six weeks fed by a nasogastric tube and fighting to breathe. When I finally went home they say I was still so small I fit in my dad’s hand – head at his finger tips, bum in his palm.
I was always significantly smaller than my peers. I remember not being able to compete in childhood games or gym because my body didn’t act like it should. My hearing loss wasn’t picked up for a long time. Even though I had recurrent ear infections and wouldn’t speak until grade 2, I was smart and found ways to fake out my teachers. When I finally did start speaking, I was moved from a remedial to advanced class. I was 8 years old and reading at a grade 6 level!
In addition to my hearing, signs that something was wrong kept coming up but adults just dismissed it, saying I was just trying to get attention. My parents didn’t know what to do and my pediatrician was of an older generation who did not see a need to refer to other specialists. Socially I struggled a lot. Interactions with other kids terrified me. By the time I was fifteen, it was difficult to ignore that something was wrong. I gained 60 pounds in one year, stopped menstruating and stopped growing.
I was taken to see a gynecologist who said I was just overweight and lazy and left me with unanswered questions and even deeper shame. It was all just too much.
It was when I went away to college at 18, that I decided to take control of my life. I pushed myself to make new friends by sitting at a different table in the cafeteria every day. My sophomore year, my roommate told me I was deaf and I finally went to get my hearing checked. All of the sudden, the doctors wanted to do a CT scan and MRI of my head. They told me I might have a brain tumor and needed hearing aids but my health insurance had lapsed and I was drowning in medical bills. Hearing aids were just too expensive. I was devastated.
For the next 3 years I learned to compensate. I told my professor to face me when speaking and relied on my friends to fill me in when I couldn’t hear in group discussions. It was really hard and there were some dark times when I didn’t think I’d make it but in 1993 I graduated and soon got a job as a pharmacy cashier. When I scraped together enough money, the first thing I bought was hearing aids. I remember asking the audiologist what that noise was after she put them in. For the first time in a LONG time, I heard the ticking of a clock. It was a whole new world.
But the misunderstanding and minimizing continued. When my hearing suddenly worsened 3 years later, an ENT referred me to a major clinic in my area and for the first time at 25 years old, I had a complete head to toe physical. The conclusion: Chronic fatigue syndrome and a psychosomatic illness due to childhood trauma. I was devastated and confused. I knew something was wrong, but was it all in my head? The cycle continued for years. If I saw a doctor they told me I was just obese and needed to exercise. I tried and nothing seemed to help. I learned to hide my physical symptoms no matter how bad they got.
In 1996, I met my husband, a co-worker at the pharmacy. A year later we were married in a small ceremony with friends and family. We knew we would have difficulty conceiving a child so we started fertility treatments right after we got married and during those fertility appointments I discovered I was diabetic, had hypertension and was diagnosed with polycystic ovarian syndrome. We persisted with the fertility treatments. Nothing worked. We were turned down for adoption because of my hearing loss. It was a painful time of our lives. In 2002 my health problems got so bad I lost my job. For six months, I laid on the couch and cried. Little did I realize that a light was coming to me, in the form a big fluffy companion.
Pattie and Duke
We had just gotten a German Shepherd puppy with intentions of training him to be my hearing dog. Duke was the reason I got out of bed in the morning and we spent these months training him to accompany me in public places. Duke passed the public service dog requirements with flying colors and with the support of the Minnesota State Department of Vocational Rehab I went back to school to become a medical coder. Duke and I graduated in 2006 with a 4.0 and even spoke at graduation. My confidence level had never been higher. I got my current job shortly thereafter and have been happily employed for 13 years now.
But I still didn’t have answers to what was going on with my health until 2012 when I met Dr. Adam Bakker, an orthopedic surgeon I consulted to treat my numb and painful hands. As soon as he examined me, he said there was something wrong. He referred me to a rheumatologist who fought to get me into the Mayo system as he was sure I had a genetic disorder.
After 2 years of genetic tests, this summer I learned I have Myhre syndrome and my whole life suddenly made sense. I went from “you are obese and need to exercise” to “we need to make sure you don’t have life threatening complications.” Moving from judgment to support, finding the Myhre community and Myhre Syndrome Foundation has been amazing. As I connect with others, I am amazed at how the similarities in all our faces are unique and beautiful. Every child who has this syndrome deserves a doctor educated enough to recognize it. Early diagnosis leads to early treatment and gives kids the best chance to live a fulfilling life. I’m so proud to support MSF’s mission to make this gift of hope a reality.