Mother shares kids’ diagnosis journey

TWINS ISABELLA (LEFT) AND JULIA DOYON enjoy some free time at the Raymond Village Library on Tuesday afternoon. The girls, who turn four years old in November, were diagnosed with Hypophosphatasia (HPP) earlier this summer. (De Busk Photo)  “The truth is we do not know everything there is to know about HPP. It’s an area where we still have much to learn. However, by coming together, sharing experiences, supporting research, and writing our efforts, we can make a difference and move closer toward a treatment.” — Deborah Sittig, Founder, Soft Bones Oct. 27 through Oct. 31 is Hypophosphatasia (HPP) Awareness Week.  Hypophosphatasia, which is pronounced high-poe-fos-fuh-TAY-shuh, is a rare inherited bone disease. The symptoms and time of onset varies greatly from patient to patient. HPP affects the way the body absorbs minerals such as calcium and phosphorous. Therefore, HPP patients experience problems stemming from ‘soft’ bones and teeth. Symptoms range from bone or joint pain to broken bones. HPP can cause health issues with the kidneys, muscles and the brain.  For more information, check out softbones.org

TWINS ISABELLA (LEFT) AND JULIA DOYON enjoy some free time at the Raymond Village Library on Tuesday afternoon. The girls, who turn four years old in November, were diagnosed with Hypophosphatasia (HPP) earlier this summer. (De Busk Photo)
“The truth is we do not know everything there is to know about HPP. It’s an area where we still have much to learn. However, by coming together, sharing experiences, supporting research, and writing our efforts, we can make a difference and move closer toward a treatment.”
— Deborah Sittig, Founder, Soft Bones
Oct. 27 through Oct. 31 is Hypophosphatasia (HPP) Awareness Week.
Hypophosphatasia, which is pronounced high-poe-fos-fuh-TAY-shuh, is a rare inherited bone disease. The symptoms and time of onset varies greatly from patient to patient. HPP affects the way the body absorbs minerals such as calcium and phosphorous. Therefore, HPP patients experience problems stemming from ‘soft’ bones and teeth. Symptoms range from bone or joint pain to broken bones. HPP can cause health issues with the kidneys, muscles and the brain.
For more information, check out softbones.org

By Dawn De Busk
Staff Writer
RAYMOND — Tracy Doyon’s twin daughters are accustomed to hospital visits and medical tests. It is something that has been happening since they were nine months old, and even more frequently during the past two years.
The preschool girls might get antsy and bored in the waiting room; but they behave wonderfully in the doctor’s office. They help slide the blood pressure sleeve on their arm. They endure having blood samples drawn.
During the two years prior to finally getting a clear diagnosis, Doyon has kept her chin up and her head on her shoulders. As a mother, she has set a standard of bravery for her girls to follow.
But, one time, before there was a clear answer, she had a meltdown,
“Once, I broke down. I don’t let the girls see,” Doyon said.
One of her twins, Julia, was going to be kept overnight in the children’s wing of the hospital. At that point, doctors just could not say what was causing the symptoms.
“I said to the doctor, ‘I am jealous of the girl who has cancer down the hall. Even though it might be a life threatening illness, at least her mother knows what she has,’” she said.
“I felt guilty for saying that. I was surprised by myself. I had to express it because it was eating at me. The doctor made me feel better. He said that I was right. He made it okay,” she said.
“If your kid is sick, your kid is sick,” Doyon said.
In June, the family got a confirmed diagnosis of Hypophosphatasia (high-poe-fos-fuh-TAY-shuh) or HPP.
The entire family had taken part in a series of tests called EXOME sequencing, which targets genes that contribute to health problems. That started in October. By June, Tracy discovered that her husband Steve, the twins and her teenage daughter had HPP.
Basically, HPP is a rare disease that is passed onto a child genetically. HPP affects the way the body absorbs minerals such as calcium and phosphorous. Therefore, HPP patients experience problems stemming from ‘soft’ bones and teeth. Many people with the disease lose baby teeth early. Other symptoms include breathing difficulties, chronic bone or joint pain, and broken bones. Not only are bones impacted, but HPP-related health problems can occur in the kidneys, the muscles and the brain.
Currently, there is no cure. But, there are breakthrough treatments as well as documented management techniques for patients with the disease.
With that long-awaited diagnosis, the unexplained health issues her daughters had experienced made sense to Doyon.
“To me it all fits. It wasn’t typical. It wasn’t classic. All these things fit and tied together,” she said.
Still, very little is known about HPP in the medical world.
“Even the doctors I talk to don’t know about it. It is just crazy,” she said, adding that she hopes to help raise awareness about the disease.
Doyon has a game plan.
She said since HPP is an approved disability, her first step is to see what disability benefits her daughters might be eligible for.
As early as this summer, she hopes to travel to the Shriners Hospitals for Children in St. Louis. Doyon has communicated with a doctor there who specializes in HPP.
“It is going to be an undertaking. But, I want to get some of these things nailed down. I want to know what we could expect in the future,” she said.
Already, Doyon has faced some hurdles. Not only has she battled with doctors and geneticists in the journey to get an accurate diagnosis, but also there is the daily routine with Julia and Isabella.
“They get tired more easily. Their leg muscles ache so I rub them every night. They complain daily. They hurt; they have pain. The girls take Tylenol every day,” she said.
Often, the pain is activity-induced. Something as low-impact as swimming will cause extreme discomfort later. The family encourages sit-down activities like puzzles and board games. In reality, sitting still is a hard thing to require of this pair of four-year-old girls.
Doyon has sometimes asked, ‘Why me?’ However, she has empowered herself by questioning the many doctors who have seen her daughters.
“The visual clues aren’t there to feel that it is urgent. My perspective is that we don’t wait until the problem presents itself,” she said, adding she had a gut feeling something was wrong.
“Normally, it takes people five years to get a confirmed HPP diagnosis,” she said.
Persistence paid off. So did circumstance.
“Part of it is me. I don’t take no for an answer,” she said.
“I’ve had to tell doctors they are wrong. I’ve had to contact geneticists on my own, instead of waiting for a medical office to call. I had to find people who didn’t say, ‘I don’t see anything wrong with them,’ ” she said.
Also, after her maternity leave, she returned to her salaried job and was allowed to scale back to 32 hours a week.
“I am very lucky. I have an extra day out the of week to take them to doctor’s appointments,” she said, “But, come June, I have already used all of my sick time on the unexpected.”
Meanwhile, Doyon wants what any parent hopes — their children can lead a healthy, normal life.
“I want them to get into soccer. I’m not sure if dance would help them with balance and tone. But, they cannot go to Gray Animal Farm (Maine Wildlife Park) without getting tired. They cannot keep up with the other children,” Doyon said.
“As far as school, let them be kids,” she said.
“I will always be extremely worried. Even activities like jumping from a log. It’s not that they would break a bone. It’s how they would feel later,” she said.

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