All children need the same things to grow and thrive—love, safety and security, a healthy environment, and opportunities. However, if you’re raising a child with a rare or undiagnosed condition, you and your child will most likely have additional needs or encounter situations that other families don’t.
All children need the same things to grow and thrive—love, safety and security, a healthy environment, and opportunities. However, if you’re raising a child with a rare or undiagnosed condition, you and your child will most likely have additional needs or encounter situations that other families don’t.
While all parents worry about their children and how to guide them, parents dealing with a rare disease or condition, or rare symptoms, might be particularly concerned about what life will be like for their child. It often means adjusting the hopes and dreams for your child, family, and yourself.
A disease is considered rare in the US when it affects fewer than 200,000 people. However, rare doesn’t mean uncommon. An estimated 25 to 30 million Americans are living with rare diseases and conditions. In addition, approximately 7,000 rare diseases and conditions have been identified.
No parent wants to see their child suffer. However, if your child is born with or develops symptoms of a rare disease or condition, it can be very distressing because there’s no available information about how to help your child. It’s not unusual for parents to struggle to get the correct diagnosis for a child with a rare disease. But identifying a child's condition is only the beginning of a family's journey.
If you are fortunate enough to receive a diagnosis, it’s positive even though it may be rare. It means your child can start getting the specialized medical care, therapies, supports, and information they need. However, it can be challenging and expensive to find resources for rare conditions.
Finding specialists who understand the condition and trying to learn all you can to make informed treatment decisions—all while taking care of your sick child—is more than a full-time job. But, the most agonizing of all is that most rare diseases don't even have a definitive treatment.
There’s a chance that doctors may not be able to provide you with a diagnosis. Even if doctors can determine the disease or condition, it can take a while. It’s also possible that your child will be misdiagnosed.
The most crucial factor for any child’s development is a warm and loving relationship with their parent or parents. Children learn from the people who care for them, so everyday play and communication can help your child’s development. In addition, there are everyday things you can do to support your child’s development.
Early intervention can make a big difference to your child’s life now and in the future. Your child’s medical team will help you work out what’s likely to help your child most.
Health professionals are experts in your child’s health and medical care. But you’re an expert on your child. No one knows your child better than you do, and you should speak up for your child’s needs, especially if you have concerns about any area of your child’s health, development, or wellbeing.
You don’t have to take this journey alone! Speaking with other parents who’ve had similar experiences can provide you with practical information and emotional support when you’re overwhelmed. Join a conversation by following @ncats_nih_gov and @ORDR, or the online international community for rare diseases, RareConnect. You can also find connections on Facebook and other social media platforms.
It can be very helpful to talk with your child about their rare disease or condition at a level they can understand. For example, you might need to explain to your child that they need to do things differently from other children. Or that they’ll have a lot of medical appointments and hospital visits.
When adults and children better understand your child’s disease or condition, they can enjoy more meaningful interaction and play with your child. For example, you can create fact sheets to give to teachers and other parents, etc. It can also be helpful to have standard answers. For example, “Sarah’s bones break easily, but she can still play. Just touch her wheelchair rather than her body.”
Parenting is nonstop and exhausting. Caring for a child with a rare or undiagnosed condition can add another layer of stress. Looking after yourself physically, mentally, and emotionally is another way to give your child what they need to grow and thrive.
As frustrating as it can be to parent a child with a rare or undiagnosed condition, groundbreaking research offers hope. Dedicated doctors and researchers at TGen’s Center for Rare Childhood Disorders (also known as the Center) and others continue to find answers and develop treatments.
Through the generosity of donors, the Center provides genomic testing for families at no charge and continues its work to provide solutions and cures to families and their children.
There are so many ways you can help. Whether you make a cash donation, participate in a fundraising event, donate gifts of stock or securities, your donation will enable the Center to continue its groundbreaking research leading to discoveries that mean a better future for children with rare childhood conditions. Even simply sharing the message with friends, family, and associates can help.