Visiting the Disease: Orit’s Story
How one mother is reframing attitudes towards life with a rare condition.
By Gina DeMillo Wagner
Orit’s five-year-old son was like most kids his age. He loved to laugh and read books with his parents and play at local parks. That is, until the day he took a minor fall on the playground. It was the kind of small bump that most kids would barely notice, Orit says. And yet, her son’s pain was unbearable. He couldn’t stop crying.
A trip to the emergency department revealed that he had suffered a concussion. And further tests, including an MRI several days later, brought more troubling news – a skull fracture and brain bleed. “At that moment we started frantically trying to figure out what was going on,” Orit recalls.
Several doctor visits and many tests later, Orit finally got a call at work from her son’s pediatrician. “I stepped outside the office, and I sat on the sidewalk, and I said, tell me.” The doctor explained that her son had a very rare condition called McCune-Albright Syndrome with Fibrous Dysplasia. “I was like, what? Can you spell that for me? I wasn't ready even to understand what she was saying,” Orit says.
Orit began researching and learned that children with McCune-Albright have bones that break very easily. With Fibrous Dysplasia, fibrous tissue replaces the bone tissue, almost like a tumor, causing uneven growth and deformities in parts of the body. McCune-Albright also involves the endocrine system, thyroid, and hormones.
“I was devastated at that moment,” Orit recalls. From there, she went home and broke the news to her husband. “I always say it was like a block falling on our heads. We didn't know what to do.”
Her son’s pediatrician had never encountered the disease and knew how important it would be to consult with experts. “So, everybody who did see the disease or wanted to learn about the disease opened their door and wanted to meet us. We had appointments every day.”
“Every kid in this world with a rare disease has to understand that they didn’t do anything wrong. They are special, because without them, we couldn’t find the cure.”
Reframing the Narrative
In order to protect her son from the onslaught of information, Orit had him wear headphones and watch shows on an iPad during those first several appointments. She absorbed all the upsetting details about his prognosis while he stayed happily unaware.
However, eventually, one doctor asked her son to remove the headphones so he could ask him questions directly about his pain and symptoms. That night, as Orit was putting her son to bed, he had some questions.
“He said am I a good boy? And I said of course. You're the best boy ever. I love you and good night, Sweetie…” She stepped out of the room and started heading downstairs when he called to her again. “In a very quiet voice, he said… why did I get this disease?” Orit was caught off guard. “I knew I had five seconds to give him an answer. What do you tell a five-year-old who is asking you why he got this horrible disease?”
Somehow, out of nowhere, Orit knew what to say. “I told him that they were looking all over the world… they went to California, and they went to Florida. They went to Israel. They went to New York, and then they came to Boston and they were looking all over Boston and he was chosen for this disease… They knew your mom and dad will do everything we can to help find a cure for this disease, not only for you, but for all the kids who have it,” Orit explained.
After that night, her son said he was happy that he was chosen to help. He knows that he is one in a million, Orit says. “That’s not a lie. He’s as special as one in a million. And every kid in this world with rare disease has to understand that they didn’t do anything wrong. They are special, because without them, we couldn’t find the cure.”
Partnering with Researchers
“We now are on a mission,” Orit says. “We are not sitting and crying every night… I promised my kid that we were chosen that night because we will do everything we can.”
Orit connected with the FD/MAS Alliance and started working with the National Institutes of Health as part of their research to better understand the disease and develop treatments. She started a campaign to raise money for research and boost awareness, and took up the cause in Washington, DC. Many politicians and research organizations are more focused on curing high-profile diseases, she explains. “But by telling them your own story, we can convince a few of them to act toward curing our disease.”
After three years of trying to convince her congresspeople to allocate funds for McCune-Albright Syndrome, the Alliance was successful. “We got $3.2 million this year for research.”
“Taking care of ourselves is one of the best things we can do in order to show up and care for our children.”
Visiting the Disease
Today, Orit’s son is 12 years old. When Orit talks with her son about his condition, they talk about “visiting the disease.”
He’s not a sick kid, she says. He’s a regular kid who sometimes visits his McCune-Albright Syndrome. [GW2] As much as possible, she groups his doctor’s appointments over one or two days a month so that he’s not constantly in and out of hospitals. She does everything possible to help him live like a typical 12-year-old.
He suffers migraines and nausea, which they’re trying to find the best treatments for. In the meantime, Orit says, meditation and breathing exercises reduce his anxiety and help him to relax, which eases the pain. “This goes for caregivers too,” she notes. It’s important for parents to practice self-care and reduce their own anxiety. Taking care of ourselves is one of the best things we can do in order to show up and care for our children, she says.
Tips and Resources
We asked rare mom Orit to share a few tips for other families navigating rare disease. Here’s what she had to say:
1. Visit the disease instead of living there. Whether it’s shielding your child from medical conversations with headphones, or limiting the number of days each month they attend appointments, parents can try to lessen the amount of time young kids spend worrying about their disease. As much as possible, allow them to be a regular kid who visits their disease, Orit suggests.
2. Give your child a voice. If your child is older and capable of understanding, talk with them honestly and give them a voice in their care. At 12 years old, Orit’s son knows he has power and agency over his McCune-Albright treatment. He signs his own name on treatment forms and knows he can tell doctors to stop at any time.
3. Connect with foundations. Research groups, advocacy foundations and nonprofits are a great way to find out who the experts are, who is leading clinical studies, and where you can access treatments. Not to mention, these organizations will connect you with other patients and families who offer support and understanding.
4. Find recent studies on sites like PubMed and Google Scholar. Look at the authors of the studies and the research centers and universities that are listed and reach out for more information.
5. Seek second (and third and fourth) opinions. Before you jump into a new treatment, surgery, or other course of action, take the time to gather different opinions and perspectives. Rare diseases that affect multiple body systems require collaboration from the medical team and a holistic approach that considers all possible outcomes. When possible, look at other cases and outcomes that are similar to your child’s, Orit suggests.
Orit recently joined the Know Rare business development team with the goal of helping other caregivers and patients learn more about how to engage with clinical studies and other opportunities for support. To access our community, journals, and rare disease resources, visit Know Rare’s community platform.
