Beth Puleio considers herself lucky to live near the Children’s Hospital of Philadelphia (CHOP), where her son Vincent is treated. Diagnosed with a rare deletion of a small part of chromosome 22, Vincent has what’s known in the medical community as “22q.”
Previously referred to as DiGeorge Syndrome, velo-cardio-facial syndrome, and about three other names, 22q refers to a chromosomal microdeletion: the deletion of 22q11.2. The disorder usually involves heart defects, growth delays, and differences in the palate, which can lead to feeding and speech concerns.
As rare diseases go, this one isn’t super-rare. Present in about 2,000 to 4,000 live births, it’s almost as common as Down Syndrome, says the International 22q11.2 Foundation.
Still, it’s not like most teachers, or even all medical professionals, have even heard of it.
There are between 6,000 and 8,000 rare diseases, say the organizers of Rare Disease Day. Some of them affect only a handful of people in the entire world; others may affect as many as 200,000 in the United States alone.
European advocacy group EURODIS notes that 75 percent of rare diseases affect children, and a devastating 30 percent of rare disease patients die before the age of five. And while these little-publicized disorders can affect people in a multitude of ways, they do tend to have some things in common:
- 80 percent of rare diseases have an identified genetic origin.
- Rare diseases are often chronic, progressive, disabling, and life-threatening.
- Diagnosis can take years due to the rare nature of the disorders.
- Because the disorders are so rare, but symptoms may be common, misdiagnosis is a huge problem.
- Lack of knowledge about the disease means constant explaining–even to medical professionals.
- Without publicity, research and support may be nonexistent.
Another significant issue for many families is how rare diseases can affect a child’s education. Pennsylvania mom Beth Puleio works hard to educate the people in her son’s life.
“For example, a lot of kids with 22q have anxiety,” she told me in a phone interview. “It affects their cognitive abilities and how they learn in school. I’ve been trying to explain to his teachers that the anxiety really affects how they learn. You can’t just tell kids with this deletion that they’ve just got to ‘learn to deal.’”
Beth and her husband are both actively involved in Vincent’s education, providing his teachers with articles and even experts they can talk to.
“I’ll bring them print-outs of articles, or connect them with our neuropsychologist,” she said. “I’ll suggest books. Whatever they need to help Vincent with his unique needs.”
Beth, who is active in both a local support group and an online community, advises parents of kids who are newly diagnosed with rare diseases to reach out to as many people as possible.
“There are a lot of support groups online, and they’re all on Facebook,” she said. “Ask your doctors and your local hospitals for support groups. Having those other families to turn to is really important. You can get a lot of information, advice, and links to articles that way.”
The advent of online support, especially Facebook, has helped parents who may not live near an internationally-renowned children’s hospital, like the Puleio family does.
“Their doctors aren’t familiar with the syndrome and everything that comes with it,” Beth said. “They don’t have the same access to local, face-to-face support.”
With Facebook, parents connect on an international level. “I helped a mom in South Africa the other day through Facebook,” Beth said. “I put her in contact with CHOP’s 22q Center, and they were able to reach out to her.”
Because Vincent was diagnosed at birth, and the family has always had the same pediatrician, they’re in good hands. However, Beth doesn’t hesitate to stay on top of the latest research, and share her knowledge with their pediatrician. “Our pediatrician is really well-educated about this, but I still bring things to him every time I go.”
For more information about 22q11.2 Deletion, please visit 22q.org. For more information about Rare Disease Day, please visit RareDiseaseDay.org. You can also watch the video below, and scroll through the Rare Disease Day photo gallery to learn more about individuals fighting rare diseases.
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