Parvathy Krishnan is no stranger to dealing with rare diseases—she has bravely done it with both of her children. Her 14-year-old son, Yash, was diagnosed with constitutional mismatch repair deficiency syndrome when he was 8. The genetic condition puts him at a much higher risk of developing cancer at a young age. Since his diagnosis, he’s battled cancer three times.
Her daughter, Ira, was born with the same condition. She fought hard but died in 2018, when she was just 4 years old.
“Our kids give us purpose,” says Krishnan, who is now active in patient advocacy for rare diseases. “Through their experiences, they have touched the lives of so many people around the world.”
Though living with a rare disease or parenting a child with one can feel lonely, Krishnan’s family is one of many that have to navigate this reality. In the United States, a disease is considered rare if it affects fewer than 200,000 Americans. However, having a rare disease is not rare. There are more than 7,000 identified rare diseases, and as many as 30 million Americans have one—that’s about 1 in 10.
Krishnan and one of the doctors on her daughter’s care team, UNC Health pediatric geneticist Cynthia Powell, MD, share advice on what to do if your child is diagnosed with a rare disease.
1. Don’t blame yourself.
About two-thirds of Americans diagnosed with rare diseases are children. Parents often wonder what they did to cause it. The answer: nothing.
“Mothers especially tend to feel responsible for the diagnosis,” Dr. Powell says. “We make sure to let them know that they did nothing wrong, especially in the case of a genetic condition. Even if one parent or both parents are carriers of a genetic mutation, they often aren’t aware of it.”
Dr. Powell says one of the best ways to combat feeling guilty is to get accurate information from your physician or genetic counselor about what caused the condition. Take time and space to be sad, but try not to place unnecessary blame on yourself.
“Watching our loved ones be in pain and fighting for answers is daunting,” Krishnan says. “While it’s natural to blame, try to remember that even though this was not something that you chose, it’s something that you are now choosing to fight and help your child survive.”
2. Let yourself go through the stages of grief.
Rare diseases often change the life that parents envisioned for their child and family. It can take time to mourn what you thought life would look like and to experience the stages of grief: denial, anger, bargaining, depression and acceptance.
“People experience the grieving process differently, and it’s important to go through each phase, but the most important thing is that families get to the acceptance stage,” Dr. Powell says. “Our job is to provide as much information as possible, and to make sure families know how to contact us for help along the journey.”
When Krishnan finally received a diagnosis for Yash, she was relieved. Like many parents, she had gone through several years of testing and doctor’s appointments trying to understand his condition.
“You feel sad without a diagnosis and then relief when you have one, but really it’s just a name to your problem; it’s not a fix,” Krishnan says. “You know you have a long road ahead to try to figure out how to deal with what you’ve been given.”
3. Research carefully.
It’s natural to turn to Google to learn more about the condition you’re dealing with, but Dr. Powell urges you to be careful about what you read online. You might find alarming or inaccurate information that isn’t relevant to your family.
“It’s best to ask your provider or genetic counselor to point you to a website or organization with accurate information,” Dr. Powell says. “It can be hard to know what is accurate when you are just starting your journey.”
She recommends checking the National Organization for Rare Disorders, which provides reputable disease education and resources.
Krishnan says there are also podcasts on rare diseases, books for kids and adults, and a channel dedicated to rare disorders on Roku and Amazon Fire TV called The Disorder Channel.
4. Find your people.
While you want to be careful about turning to “Dr. Google,” social media can be a way to find other families dealing with your condition or a similar one, Krishnan says. Try to wait until you have a diagnosis and have asked your doctor your most pressing questions, then search the name of the disease or “rare disease” on your preferred social media site.
“Finding someone who gets it, who you don’t have to explain everything to, makes the journey so much more bearable,” Krishnan says. “The world is as big or small as we make it.”
She also suggests searching for nonprofit organizations related to your condition, which often have resources and groups for families. The NORD website provides patient assistance programs and community support.
“Families do an amazing job keeping up with their community and becoming experts of their diagnosis,” Dr. Powell says. “Often, parents become advocates for more research and treatments, and offer their time to talk to others who are just starting their journey.”
5. Identify the care team that is right for your family.
The first step in assembling the right care team is to have a primary care provider, nurse practitioner or family medicine physician to serve as your child’s medical home.
“The child may have a condition that requires them to be seen by many specialists. It’s important for a provider to be a central resource and coordinator for the family, even if they aren’t providing the treatment,” Dr. Powell says.
Primary care physicians at complex care centers can be especially beneficial for children with rare diseases. The physicians and nurse coordinators there are more familiar with delivering and coordinating specialized care.
Krishnan says the right medical team is the one that considers the needs of the whole family, not just the child.
“It’s about finding the right doctor for you and your family,” Krishnan says. “It can take a while, and it can be frustrating, but it’s worth it in the end.”
6. Stay focused on your child’s abilities and potential.
It can be easy to become overwhelmed with your child’s diagnosis and all that it means for your child and family. Dr. Powell says it’s critical to remember that your child is an individual, and to focus on the things they can still do.
“For example, I’ll say, ‘Mary is still Mary. She is not her diagnosis,’” Dr. Powell says. “The diagnosis shouldn’t be all-consuming. Treat them like you would any other child as much as you can.”
Krishnan says it’s important to consider what your child will need long-term to get the most out of life.
“Rare disease is not a sprint; it’s a marathon. But you will come out of it stronger and better,” she says.
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