When a regular medical exam fails to diagnose your child, you seek a second and third opinion. You continue your quest, desperate for answers, yet feeling horrible that you’re subjected your child to ongoing biopsies, poking, and prodding.
In addition to the pain of not being able to help your child’s suffering, not having a diagnosis may also lead to a lack of treatment or access to assistance. You may also have to watch your child become further debilitated while waiting for a diagnosis.
The road to getting a diagnosis can be long and filled with twists and turns. Sometimes, even if you manage to survive the bumpy journey, you can still come up empty.
Why Can’t My Child Get a Diagnosis?
There may be more than 7,000 rare diseases. The definition of a rare disease in the US is a condition affecting fewer than 200,000 people. However, between 25 to 30 million Americans are estimated to live with them, so although rare, they’re not uncommon. Other countries have different definitions of rare diseases. For example, a disease is rare in the European Union when it affects fewer than 1 in 2,000 people.
Although the science of medicine may be highly advanced, it’s not always exact or perfect. There are many reasons you may not be able to get a diagnosis for your child’s condition.
- The symptoms themselves may be difficult to identify. For example, an occasional headache could be a symptom of a more significant problem.
- The patient may have more than one medical problem, confusing the diagnosis process.
- The body system causing the symptoms may not be clear, and the patient may be seeing the wrong specialist, leading to a delay in diagnosis.
- There may be conflicts among the drugs or supplements the patient already takes, leading to symptoms caused by those conflicts.
- Many diagnoses do not have definitive tests used to determine them. In these cases, healthcare providers must use combinations of symptoms, often vague symptoms, leading to a lack of diagnosis.
- The actual medical problem may be highly unusual or inappropriate to the patient's age. The healthcare provider might not consider an infrequent diagnosis for that age of the patient. For example, lung cancer in a younger person would be highly unusual.
- Due to the thousands of diseases that are so rare, few medical professionals know much about them.
- Medical science may not yet have determined a named diagnosis.
Tips to Help You on Your Journey
Be Easy on Yourself
Understandably, you’re driven to find answers to help your child. However, while we understand that it’s easier said than done, you have to make sure you don’t drive yourself crazy in the process. We also know you’ve heard this all before, but it bears repeating. If you don’t take care of yourself, you won’t be able to care for your child or anyone else!
Taking care of yourself means doing everything possible to stay healthy in body, mind, and spirit. It’s important to be kind to yourself, including letting go of frustrations that cause stress: frustration at dumb rules, barriers that stop us from getting what our child needs, frustration at having to tell your story AGAIN and AGAIN.
Healthy eating (although not always possible if you’re spending lots of time in the hospital with your child) is essential. Physical fitness not only keeps your body strong, but it can also be an excellent way to relieve stress. It doesn’t require an expensive gym membership or extreme workout routine—a walk through the neighborhood will work. Meditation and deep breathing exercises can help, too.
Join an Online Support Community
Remember, millions of people are also on this challenging journey. Like you, they may also feel isolated and confused. There are multiple online resources available.
Making a connection with other parents can be a tremendous help. Even though your child is undiagnosed, you’re all experiencing the frustrations, obstacles, and stress associated with the journey. Your online community can share your pain on bad days and also your joy when it seems there may be a breakthrough.
You can also be part of the conversation by following @ncats_nih_gov and @ORDR. In addition, the online international community for rare diseases, RareConnect, has created a global, multilingual community for undiagnosed conditions. Facebook and other social media platforms also have groups that allow families to connect.
Seek Professional Help When Needed
Many studies show that caregivers, especially those who have children with undiagnosed medical conditions, are more likely to suffer from depression and anxiety. While it may seem that this is just an extension of taking it easy on yourself, navigating serious mental conditions requires professional help.
Depression and anxiety disorders are the most common mental health conditions in the US, affecting millions of people each year. Both conditions can impact your daily life in significant ways. Fortunately, depression and anxiety are treatable conditions. But, left untreated, they can subject you to a long list of other severe physical and mental problems.
Working with a counselor or therapist can make an already difficult journey a lot smoother.
Hope Exists
For many, the journey takes them to TGen’s Center for Rare Childhood Disorders (the Center) and a team of doctors and scientists who leverage innovative genomic research and technology to diagnose rare childhood disorders.
For parents who struggle to get a diagnosis, this technology, and the Center offer the promise of hope. Our 40 percent diagnostic rate means that more families receive answers. And while not all diagnoses lead immediately to treatment, attaching a name to their child’s disorder provides many families with a greater sense of power and answers that make a world of difference.
As a parent, you probably have many questions, and the Center has answers for many of them. 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.
