Do you feel as though you’re on a diagnostic odyssey, going from doctor to doctor or hospital to hospital in search of the root cause of your child’s condition? As difficult as it is to watch your children suffer, the lack of a diagnosis adds to your anguish.
The odyssey can be a long and twisted road with multiple stops and starts. A diagnosis is not straightforward if your child has a rare condition, symptoms that match numerous conditions, or symptoms that don’t fit into a single category. You could wait a long time for a diagnosis or even get many along the way. Frustration doesn’t even begin to cover your feelings adequately.
The need for a name is essential on many levels. First, it helps you access services. Second, it helps connect you with other parents whose children have the same disorder. Third, it helps you learn how to support your child for the best possible life.
If your child has a well-known condition, you’re more likely to have the key to unlock the door to support, information, and treatment pathways. However, when a diagnosis never arrives, you’re more likely to be thrust into a desert landscape void of answers or a path forward.
The good news is that you are not alone. Parents struggling with similar issues have formed support networks. In addition, new conditions are identified every day, and one of those might help doctors reach a diagnosis for your child.
In the meantime, there are helpful things you can do while you’re on the journey.
Build a Support Network
Connecting with peers can be powerful. The people you meet might not have a child in the same situation as you, but they’re on a similar journey of frustration and hope and can share experiences and information that can help. You can find support online at Facebook and other social media platforms. In addition, the online international community for rare diseases, RareConnect, is starting an international, multi-lingual community for undiagnosed conditions.
Tap Into Reputable Resources
Although you may not have answers, good information is available from credible resources.
- TGen Center for Rare Childhood Disorders (the Center) shares medical breakthroughs, the latest scientific advancements, and ways to get involved.
- The Genetic and Rare Diseases Information Center (GARD), part of The National Institutes of Health (NIH), provides guidelines on finding specialists, financial help, research, and tips for those without a definitive diagnosis.
- Another source, also funded by the NIH, is the Undiagnosed Diseases Network, which brings clinical and research experts from across the United States together to solve the most challenging medical mysteries using advanced technologies.
- The National Organization for Rare Disorders (NORD) has a searchable database of conditions and family guides on rare diseases, undiagnosed patients, patient assistance and other financial help, and connecting with others dealing with the same situation.
- There are also a growing number of open access journals, including the Orphanet Journal of Rare Diseases.
Take Notes
It’s nearly impossible for anyone to absorb a lot of information at once, especially if it’s unfamiliar medical information. So take and keep notes of your child’s symptoms and what happens at medical appointments. In addition, Ask a member of your child’s medical team to provide a detailed summary of their medical records. This document can be handy for visits to an emergency department when electronic medical records are not available.
Be Kind to Yourself
Take care of yourself. Dealing with a child with an undiagnosed condition is extraordinarily stressful and puts pressure on marriages and siblings. Your child and other family members rely on you, and not taking care of yourself will make it difficult for you to take care of anyone else.
Remind Yourself That You’re Not Alone
Although it may seem that you’re trying to survive on a deserted island, many other parents face the same exhaustion and frustration to find a diagnosis for their child. Wherever this journey takes you, sometimes it helps to remember that you’re not alone.
For parents whose children struggle to find a diagnosis, the Center offers hope. The Center’s 40 percent diagnostic rate means that more families receive answers.
As a parent, you probably have many questions, and the Center has answers for many of them. Through the generosity of donors, who participate in fundraising events, donate gifts of stock, securities, or cash, the Center provides genomic testing for families at no charge and continues its groundbreaking research to provide solutions and cures to families and their children.
