Crippling insomnia led to my ultra-rare diagnosis

During the same time, I started having other minor and seemingly unrelated health concerns like bone pain, kidney calcifications, and broken dental crowns. The symptoms seemed to follow no clear path to treatment either. Still searching for a cause and cure to my chronic insomnia, I poured over my past medical records and test results. I've had my blood drawn every few months since 2012 because of my thyroidectomy. My background is in accounting, so I naturally decided to chart my results for my thyroid markers to see if there was a correlation to when I had major setbacks in my sleep. What I found was completely unexpected. I noticed that on every single blood test, going as far back as 2006 when I had my daughter Claire, something called alkaline phosphatase (ALP) was flagged as extremely low, almost unmeasurable. I was banned from Dr. Google by Dr. C, so I did not research it. I did, however, bring it up at the next dozen appointments with several top doctors and specialists in Tampa. Each time my concerns were brushed aside as hypochondria. Every doctor told me low ALP was great, and only high ALP indicates liver problems. They were doctors, so I believed them. 

In the summer of 2019, I got my 16th low ALP result on a blood test. After being dismissed by my doctors again, I finally Googled it. In less than five minutes I found out that: 1. Having low ALP is extremely rare, 2. Low ALP is not good, and 3. It usually indicates a rare disorder called hypophosphatasia. Hypophosphatasia is a rare genetic disorder where your body does not produce enough of the enzyme, ALP, needed to develop healthy bones and teeth. From the information I found online, only 500-600 people total in the United States have HPP. Low ALP also causes other problems, like calcifications in the body, and inhibits your body’s ability to absorb any Vitamin B6. Vitamin B6 is crucial to the central nervous system and is involved in producing the neurotransmitters serotonin and norepinephrine, and in forming myelin. The information I read about hypophosphatasia was scary, and I started to panic. Think of the nightmare where all of your teeth fall out for no reason; this was the best-case scenario from what I found on the internet. However, it was hard for me to ignore the unusual traits I have always thought of as my claim to fame, like being able to turn my feet backward, bowed legs, and wrists smaller than most toddlers'. 

My hyperextended legs were what I was teased relentlessly about by other kids growing up that has continued as an adult.

I tried to talk to my husband Bennett about it that night, but he got upset. He has been my rock throughout every health struggle, including insomnia, but even Saint Bennett (as my friends call him) has his limits. What I remember of what he said was,  "What are the chances you are the one in a million people that have this rare disorder? Don't go down this path again that will lead us back to the same place, a bunch of doctors appointments, and nothing is wrong." Still, I felt like I could have it based on what I read and the fact there was no other logical explanation for my chronically low ALP. 

I was devastated that he was not willing to hear me out and, this may come as a big surprise, didn't sleep at all that night. The next morning, I brought it up to him again, along with my concerns about our then 12-year-old daughter Claire. One of the hallmark signs of hypophosphatasia is unexplained tooth loss as a toddler and repeated breaks of the same bones. Claire had experienced both. At the time, we believed her doctors when they said it was due to her endless energy. Now I was convinced it was something more serious. 

After a bit more research, I found a hypophosphatasia charity named Soft Bones and cold-called the number. Denise Goodbar, their Executive Director, answered the phone and talked to me for an hour. I was hysterical. I hoped she would tell me what everyone else had, that low ALP was nothing, and there was no way I had hypophosphatasia. She listened to everything and said that she thought I should speak with a doctor who has heard of hypophosphatasia. She was the first person in years who heard what I was saying, and that was all I needed to move forward.

Denise sent me a list of specialists in Florida, and I called the geneticist at the Mayo Clinic in Jacksonville. I gave his assistant my medical history, and she said their backlog was so long it could be six months before they were able to see me. I asked if I could send the doctor my excel sheet showing my blood test results and the decades of low ALP. Although she didn't think it would help, she humored me and gave me her email. I got a call back from her that day, and the doctor wanted to see me the following week. Having a potential rare disease diagnosis is instant celebrity status in doctors' offices, you move right to the front of the line. He diagnosed me, and Claire shortly after, with hypophosphatasia. After years of misdiagnoses and improper medical treatment, we finally had an explanation. I was not crazy or making this up in my head and was thankful that crippling insomnia led to my ultra-rare diagnosis. What I didn't realize then was how steep the road ahead would be.

Our family felt isolated and helpless as we struggled to find information and resources hypophosphatasia and had to become experts on our rare disorder. While my diagnosis may be extremely rare, the path to rare disease diagnosis is common. The average time it takes for patients to receive a rare diagnosis is 4.8 years, and 95% of rare diseases lack an FDA approved treatment. Our family created RareGuru to eliminate the time, frustration, and isolation that accompanies a rare diagnosis. RareGuru empowers users to connect, share, and heal together because a disease may be rare, but hope shouldn’t be. It is currently available for free in the iOS app store and is coming soon to Google Play; I hope you will share RareGuru with someone facing similar challenges of a rare (or non-rare) diagnosis to help alleviate the challenges surrounding their diagnoses. Please watch the short video below for more about our family's journey from HPP diagnosis to RareGuru. 

The Barrow Family's Rare Disease Journey