It is difficult for parents to watch their children suffer from any illness; however, the lack of a diagnosis adds to the anguish. Navigating the healthcare system in any circumstance can be daunting. Add a rare or undiagnosed condition into the mix, and it is even more bewildering.
While no parent wants their child to be sick, if your child has been diagnosed with a well-known condition, you’re more likely to find a path to treatment, or at least the ability to manage your child’s condition.
However, when your child has a condition that is rare or undiagnosed, you're more likely to be thrust into a world of uncertainty and frustration as you search for answers.
Taking care of a sick child and at the same time searching for a diagnosis, understanding the condition once diagnosed, and learning enough to make informed treatment decisions is more than a full-time job. One of the most agonizing things in the process is that many rare diseases don't even have a definitive treatment. Meanwhile, even as some diseases only affect a small number of people, tens of millions of Americans collectively suffer from a rare disease.
In the U.S., a condition is considered a rare disease if it affects fewer than 200,000 people nationwide at any given time. However, since there are at least 7,000 identified rare diseases, it’s estimated that up to 30 million Americans have a rare disease. Thus, having a rare disease isn’t actually uncommon.
It’s not unusual that parents of children battling rare and undiagnosed medical conditions have feelings of anxiety, fear, and frustration. However, if you’ve recently found yourself plunging into the realm of a rare disease diagnosis or none at all, there are a few things that can hopefully help you in your journey.
There is Hope
First and foremost, know that there is hope. Medical breakthroughs and advances continue to help researchers identify rare conditions. For example, great strides continue to be made by the dedicated doctors and researchers at TGen’s Center for Rare Childhood Disorders, also known as the Center, using genome testing.
The Center’s 40 percent diagnostic rate provides more families with the answers they so desperately seek. And while not all diagnoses lead immediately to treatment, simply having a name for a child’s disorder can be empowering
You’re Not Alone
Watching your child deal with unexplained health issues is scary and can easily make parents feel like they’re alone, which can make a frightening situation worse. But, as mentioned earlier, with at least 7,000 identified rare health conditions and up to 30 million Americans with a rare condition, that’s not the case. A disease or disorder being rare does not mean it is uncommon.
You are not alone. Even if your child has an incredibly rare disorder, another child in the world has it. Connecting and sharing experiences with other families can provide tremendous support. Reach out to find other families with a child affected by the same condition. They may also put you in touch with established support groups or help you start your own.
Focus on Your Well-Being
Every instinct will tell you to put your child first, but it is equally vital to physically, psychologically, and emotionally care for yourself. The best and most effective way you can help your child is to be healthy. Everyone will deal with the situation uniquely, but it’s crucial to understand how family members cope to help and support one another.
Research, Research, Research
Finding resources and information to make your lives easier has been key for many families. As well as local help, there are also a growing number of online resources that can provide accurate and credible information.
For example, the National Institutes of Health (NIH) has a Genetic and Rare Diseases Information Center (GARD) that lists specific diseases. Their information specialists will provide medical information in easy-to-understand language, explain genetic testing, and list organizations that support families. There are also guides on finding specialists, financial help, research, and tips for those without definitive diagnoses.
Get Organized
The information you receive at medical appointments can be overwhelming and complex. Realistically, you can only absorb so much information at a time, so taking notes can be very helpful. That will allow you to review them later and not worry that you haven’t remembered everything.
Ask a medical team member to write a detailed summary of the condition, which can provide you with an accurate report and be used if the patient has to visit an emergency department and electronic medical records are not available.
It’s also a good idea to keep notes on your child’s symptoms to share with your medical team. For example, a journal to log your child’s experiences can provide much insight for you and the medical professionals. Any information you can offer may be useful.
There is a myriad of ways you can help. Your support enables the Center to provide genomic testing for families at no charge. Your cash donation, participation in a fundraising event, gifts of stock, or securities all allow 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.
