After doctors couldn't figure out why she was suffering such terrible insomnia, Heather Barrow, 41, did her own research—and she learned she was born with a rare genetic disorder that also affected her mom and teenage daughter.

By Korin Miller
July 08, 2020
Advertisement

This article is part of Health's series, Misdiagnosed, featuring stories from real women who have had their medical symptoms dismissed or wrongly diagnosed.

From the time she was a child, Heather Barrow, 41, experienced a lot of unusual health symptoms she didn’t think twice about.

“My teeth are transparent, for lack of a better word,” she tells Health. “I had lots of cavities as a kid. After high school, I had really bad gum loss near my bottom front teeth and the teeth had to be taken out.” Barrow even had to have a gum graft in her late 20s.

But she didn’t just experience dental issues. “I also have really tiny bones—my wrists are a little over an inch wide,” she says. “My knees bend backward, and I can turn my feet backward. That was my claim to fame growing up, but I never wondered why I have hyper-extended joints.”

Barrow says she assumed these symptoms were normal-ish, until she started experiencing crippling insomnia. It started after this mom of two from Florida had a noncancerous tumor in her thyroid removed in 2012. She checked in with an endocrinologist regularly about her thyroid levels after that. But her endocrinologist retired in 2017, and Barrow decided to see her general practitioner to help regulate her thyroid.

Barrow says her doctor “was misreading my test results” and increased her dosage of Synthroid, a thyroid hormone replacement medication she was taking. Barrow had been on Synthroid since she had the tumor in her thyroid removed, and she says it was normal for her dosage to be tweaked.

But that’s when things started to go wrong. “I started losing weight quickly, my blood pressure was high, and I was having bad anxiety and panic attacks,” Barrow says. She went back to her doctor, who prescribed her Xanax for anxiety. But suddenly, she couldn’t sleep, either.

“One night I was sleeping fine, and the next night I could not sleep,” Barrow says. “I didn’t sleep the next three or four nights in a row. I thought I was going to die. I had never not slept for one night.” Barrow eventually went to the hospital, where she was admitted because her resting heart rate was so high. Her blood was drawn and tested, and doctors discovered that she had severe hyperthyroidism (an overactive thyroid) caused by a doctor-prescribed overdose of Synthroid. Barrow’s weight loss, panic attacks, and high blood pressure were all caused by this, the hospital doctors explained.

So the dosage of her medication was halved, and she was encouraged to find a new doctor. Barrow says she was warned that it could take up to six weeks for her symptoms to get better, and it did. “Every symptom got better with the correct dose of my medication, except the insomnia,” she says. “For the next two years, it was a constant struggle.”

Barrow started seeing a sleep psychologist. “I tried every single thing on the market for sleep. I was doing whatever I could to try to figure to what was going on,” she says. “But, no matter what I did, I would have a stretch of OK sleep and then it would come back with a vengeance.”

At the same time, Barrow began seeing an endocrinologist who she says didn’t take her symptoms seriously. “When you tell a male doctor that you have insomnia, he’s like, ‘Take a melatonin,’” she says.

Barrow began to wonder if her sleep issues were hormone-induced, and she started to pore over her blood test results. “I had up four to six blood tests a year because of my thyroid monitoring,” she says. That’s when she noticed something that she had brought up to her doctors before: Her tests revealed that she had low levels of alkaline phosphatase (ALP).

ALP is an enzyme found all over the body, but it’s mostly in the liver, bones, kidneys, and digestive system, according to MedlinePlus. High levels of ALP can be symptoms of liver disease or bone disorders. While most of the focus around ALP is on high levels, MedlinePlus states that low levels of the enzyme can be a sign of a zinc deficiency, malnutrition, or hypophosphatasia, a rare genetic disease that affects the bones and teeth.

Barrow’s ALP levels weren’t just lower than average—they were shockingly low. “Doctors would always say, ‘I’ve never seen that before,’” she says. “But every single blood test result going back to 2017 had ALP results in the single digits, when normal is 130. Not only was it marked, but it was bolded and retested because the lab had never seen that before.”

Still, her endocrinologist insisted that nothing was wrong. So, Barrow did her own research. “I found out it was really rare to have low ALP, and the only thing that really causes it is a rare bone disorder,” she says. “Probably in a matter of five minutes, I had Googled it, started to read what came up, and I was like, Oh my goodness. I knew when I read the symptoms of hypophosphatasia that I didn’t have the most severe form. Yet when I read on about tooth loss and repeated bone breaks, not only did I potentially think I had this, I thought my daughter had it, too.”

Barrow raised her concerns to her husband, who initially tried to calm her fears. But, after she showed him her research, he also knew something was wrong. “We need to look into this,” Barrow remembers her husband saying.

Barrow connected with someone at a charity called Soft Bones, who directed her to a doctor at the Mayo Clinic specializing in hypophosphatasia. After first being told the specialist was too swamped to see her, Barrow sent over her test results. She got a quick call back, and was told the doctor wanted to see her within a week.

The doctor confirmed that Barrow had hypophosphatasia, and suspected that her daughter and mother did, too. “He was the first person who listened to what I said,” she recalls.

Barrow says she left the office “hysterically crying. At that point, so many people had told me that nothing was wrong. You don’t want to have anything and you don’t want your child to have anything, but it was a relief because we finally knew what was going on.” Both Barrow’s 66-year-old mother and her 13-year-old daughter, Claire, were eventually diagnosed with the disorder.

Barrow discovered that her condition was behind all of her unusual symptoms, including her insomnia. “Your body needs ALP to process vitamin B6,” she explains. “All of the mood-related symptoms like anxiety and insomnia were caused by a vitamin B6 deficiency.”

No easily accessible treatment exists for hypophosphatasia. A daily injection can be taken, but it hasn’t been studied extensively and is costly. “Doctors advised us against starting it right now because it was intended for people with really significant bone less,” Barrow says. “Also, we weren’t willing to be guinea pigs.”

So Barrow and her daughter now take precautions, like avoiding high impact exercises, which can be difficult on their bones, and staying on top of their dental health. Barrow still regularly sees her sleep psychologist, and she’s also found things that work for her, like going to bed at the same time every night, taking a series of vitamins, and getting regular exercise. “I do a lot to keep my sleep in check,” she says. Otherwise, there’s not much she and Heather can do for their condition.

Barrow says that her daughter was “very upset” for weeks after her own diagnosis, so she encouraged her to figure out a positive outlet. Claire did. She came up with the idea for an app to help connect people with rare diseases, and even did a Shark Tank-style pitch to her parents. Eventually the app, called Rare Guru, was born.

“I had nobody to talk to my age [who was going through something similar]. That was really hard,” Claire tells Health. “Kids aren’t really open about their flaws and diagnoses because they don’t want to be different. I wanted to create a safe environment for teens."

Now, Rare Guru encourages people to “become the patient zero” for their own disease, disorder, or syndrome. Patients can connect with other people with similar symptoms or diagnoses through the app, and caregivers can also get support.

“It’s really surreal because, of course, it was just an idea, and I’m so happy that my parents supported it,” Claire says. “It’s crazy to think this could potentially help thousands of people.”

Barrow is still frustrated that it took so long for her to get properly diagnosed, and she’s hoping her family’s app can help others in similar situations. “I could have been easy to diagnose if someone looked at all of my symptoms at once, but no one took the time to do it or even to look into it when I brought it up repeatedly,” she says. “You can ignore something as a mom, and you’re often the last person to get treatment. But my insomnia was so bad, I couldn’t ignore it anymore. I just wanted to sleep.”

To other people who are struggling to find answers for their symptoms, Barrow says this: “You know your body better than anyone. If your body is telling you something is wrong, believe it and find a doctor who will listen and help you find answers.” She also recommends using her app to search your symptoms and try to find others who share them. “You may be led to a rare diagnosis that none of your doctors have ever heard of,” she says.

If you have a story to share about being misdiagnosed, email us at misdiagnosed@health.com and join our Misdiagnosed Facebook community to talk to women who share the same struggle.

To get our top stories delivered to your inbox, sign up for the Healthy Living newsletter