Mom wants to raise awareness about rare disorder

Six-year-old twins Bella, left, and Julia with their mother, Tracy Doyon.

WINDHAM — Bella and Julia Doyon are like any other kids on the playground.

They race around, play on the swings, go up and down the slide, and occasionally test the limits of the rules set by their mother.

Despite all that, the two young girls have something that sets them apart from most kids their age – and it’s not just that they are identical twins.

The 6-year-olds from Raymond both have a rare bone condition called hypophosphatasia, or HPP. According to Soft Bones, an organization that works to better understand and treat HPP, the disease is a metabolic condition that affects how bone and teeth develop.

Soft Bones celebrates HPP Awareness Week at the end of each October, and the girls’ mother, Tracy Doyon is sharing her family’s story as part of that effort. “Any time I go anywhere, I try to inform people of it,” Doyon says. “Especially when I visit doctors and nurses.”

Doyon says that it was a long road of uncertainty before the the eventual HPP diagnosis, and she hopes to raise awareness about the condition and help other families battling HPP.

The genetic condition can very greatly in terms of its severity, according to the National Institutes of Health. Symptoms include poor breathing and feeding in infancy, weak or soft bones, short stature, short limbs, other skeletal abnormalities and early tooth loss, among others.

“Soft Bones has been helpful in connecting with great doctors and great people,” Doyon said.

Doyon says the twins “overcame all odds to survive.” They were delivered by an during an emergency c-section and spent time in intensive care. They then struggled with asthma-like symptoms for the next year.

There were several trips to the hospital. Initial x-rays led doctors to believe that the girls had bones in their legs that were too dense, but a bone marrow biopsy later revealed the reverse: that their bones in their legs are actually too soft, Doyon said.

The biggest physical challenge right now for the girls is the soft bones in their legs. Each have had multiple fractures in their feet, she said. Their breathing used to be the biggest issue, but that problem eased as the girls get older and their lungs get stronger, she said.

“But you wouldn’t know,” she said about how they sometimes seem compared to how they feel. “They suffer through so much pain.”

HPP involves a malfunction of a certain gene. Since the twins’ diagnosis, the Doyon’s have discovered that two others in their family have the condition. The girls’ father Steve and older sister Emma, 19, both have HPP as well.

The twins’ also have several other medical conditions that add further complications. Doyon said that Bella (short for Isabella) and Julia also have Tuberous Sclerosis Complex and Marfan Syndrome.

Despite all of the health hurdles they have faced, the girls were full of energy on the afternoon of Halloween while playing at Lippman Park in Windham.

Their mother said that though they appear to be as energetic as the next kid, there is a whole other side that people don’t necessarily see at the playground. She said they tire easily, and can be very sore after playing to the point that they have difficult walking.

“What will be the problem is tonight and tomorrow,” Doyon said. “It’s like they pay to play. They’ll be sore.”

When asked about their favorite things to do, both first-graders mentioned active pursuits such as zip-lining and jumping rope. Bella said that her favorite subject at Raymond Elementary is recess and Julia said hers is library.

Doyon said the twins, who turn 7 Nov. 11, are able to lean on each other for support as they go through similar challenges.

“I couldn’t imagine if one of them had to do this by themselves,” she said.

The family travels to Boston at least monthly for medical appointments, she said, and the girls’ see at least 12 different doctors. They will also be heading to New York City soon to meet with a multidiciplinary medical team, which she hopes will be a “big step” in understanding more about the twins’ condition.

Doyon said that despite the existing symptoms, it’s unclear just how Bella and Julia’s HPP will progress moving forward. That uncertainty drives her to keep raising awareness.

“We’re still looking for answers, even though we know so much,” Doyon said. “I just really feel empowered by talking about it.”

Matt Junker can be reached at 781-3661 ext. 123 or Follow him on Twitter: @MattJunker.

Six-year-old twins Bella, left, and Julia with their mother, Tracy Doyon.