Dear Parent of a Child With a Rare Disease,
As an adult recently diagnosed with Ehlers-Danlos syndrome (EDS), I want to write this letter to help alleviate any guilt you may have about your own child who has a rare condition. I can’t imagine what it feels like when your grown child comes to you to tell you they have a genetic condition that has gone undiagnosed. I assume it must feel crushing, to feel that you may have missed the signs and symptoms, but I assure you, you did not fail as a parent.
Genetic conditions like EDS are assumed to be rare, and it can cause symptoms in many different organ systems, so putting the puzzle pieces together takes a very talented physician or specialist. Gastrointestinal problems in children is sometimes blamed on anxiety, and joint pain is often seen as “growing pains.” You may have even assumed that your child was feigning illness for attention. There are often so many different symptoms that it can seem overwhelming. How can there be so many different things going on with one child that are seemingly unrelated?
Even with an attentive primary care provider, rare diseases, especially complex conditions like EDS, are often overlooked. Each individual symptom of Ehlers-Danlos syndrome may be indicative of something else entirely. You may have brought your child to see an orthopedist, a cardiologist, or any other specialist. A major fault in our healthcare system is that we are sent to professionals who have their own niche, and they don’t always communicate with each other. It isn’t always assumed there is one overarching diagnosis to explain the many dissimilar symptoms.
This does not mean you didn’t fight for your child. This means that rare diseases, simply because they are considered rare, aren’t often considered as differential diagnoses.
It must also be noted that it is often the culmination of these symptoms in a person’s medical records that leads to the diagnosis of a rare disease. A child will usually have fewer pages in their medical chart than an adult, simply because an adult has experienced more years on Earth. The more symptoms indicative of a rare disease, the more likely it is to be diagnosed.
You are qualified as a parent, even if you feel like you missed some guide or handout that everyone else appears to have received. If you were not qualified, you wouldn’t have emotions about not seeing this disease in your child. You wouldn’t care, and you wouldn’t be reading this letter right now. You are not a medical professional, and even if you are, there’s no reason to suspect your child has a rare disease.
Specific to genetic conditions, it may seem normal that your child was experiencing certain symptoms because it is normal for you, too. For example, symptoms such as local anesthetic resistance and hypermobility run in my family. When I experienced these things, I was met with, “Of course, that’s just what happens.” It is normalized to no fault of your own. You likely grew up with the same beliefs your newly diagnosed child had!
I want you to know that you are not at fault for being unaware of your child’s illness. Please don’t blame yourself. If qualified healthcare professionals missed your child’s disease for 25 years, how in the world were you supposed to know?
Supporting your child through the diagnosis process and validating their childhood pain is crucial. There may be resentment from your child for missing what they believe to be obvious symptoms, but with amends and evidence that you believe them now, healing is possible. Keep in mind that what people diagnosed with a specific rare condition may see as “obvious,” may not have been obvious at the time to you. That’s OK, as we all have different perspectives.
Please try and relieve yourself of any guilt you hold, and continue to support your newly diagnosed child.
With love and forgiveness,
A Child Diagnosed with a Genetic Disease as an Adult