To the Parents of a Child Waiting for a Diagnosis

Never in my wildest dreams did I realize it could take so long to have a specific medical diagnosis. Or that a diagnosis may never be clear. Or that the “gray area” of science would lead to the possibility that the diagnosis is “unique to your child.” Or that the diagnosis doesn’t even have a name yet.

We can’t be the only ones. We know there are countless other children and parents across the medical spectrum waiting for a clear diagnosis just like us.

Just like a diagnosis, every person and family has their own story. We’ve learned more than we ever imagined we would through the past 20 months and counting. Our journey taught us these 11 things while we wait for a clear diagnosis for our child:

1. Treat the symptoms. This is the best advice we ever received from a doctor. Although our child doesn’t have an overall diagnosis, he has a unique set of symptoms, some of which could be treated. Some of the treatments were a result of trial and error and couldn’t be easily explained — but worked. So, we treated the symptoms despite waiting for a diagnosis that still eludes us completely.

2. Aim for balance during tests, tests and more tests. When waiting for a diagnosis, it’s essentially a process of exclusion. Our child has had virtually every panel, genetic test, you name it associated with the primary immunodeficiency disease umbrella.

Every time we went down a path of several rare diseases, we would ride that roller coaster of “Is this the diagnosis?” Then after waiting a few weeks later (or longer) for the tests to come back, we received answers like “no” or “the results aren’t conclusive.”

Over time, while waiting, we began to find balance in the process of elimination by not getting our hopes up too high or too low. Aiming for balance in the middle. And getting accustomed to the strange feeling like you’re “rooting” for a disease when the more complicated reality is that you just need answers.

3. Trust your gut. As parents, we are the most clued in to our child’s disposition and changes, and for young children — their voice. Even the most subtle shifts can be helpful in either discovering diagnosis or treating unusual symptoms. Trusting our gut to tell health care providers when our child seemed “off” helped catch major problems such as blood infections before they got much, much worse.

4. Find an expert you trust to put the puzzle pieces together. If a doctor accepts status quo, find another who will listen, consult with other experts and help you search. Too often in the wait for diagnosis, many different specialties are involved, which results in a lot of puzzle pieces. We were fortunate to have an expert who put those pieces together for us. There are doctors like this out there.

5. Search for your community. We don’t fit nicely into a “box” or “code.” Because of this, it can be difficult to relate to others in several disease/cause umbrella groups. It can be hard to see the countless cause ribbon colors and not know where we fit in. We can associate with the “zebra stripe” of the primary immunodeficiency disease category, yet our child’s case is severe enough that it is often difficult to relate to others. We can also associate with the “green” of bone marrow survivors and partially with the “blue” of histiocytosis/HLH. By searching for community in all these areas, we’ve opened ourself up to others in similar diagnoses, which over time helped us feel content with being outside the diagnosis “box.” Remember, hope comes in all the colors.

6. Be an advocate by sharing your story. For a year, we maintained a lot of privacy while we adjusted to searching for a diagnosis. It was hard to tell people about what was going on since we had a hard time following it ourselves. A turning point was when our child’s stem cells were injected into mice in a research lab so that scientists could better understand the components of his unique disease. All of this is an effort that will ultimately help others who may also have a similar genetic basis for disease. At that point, it clicked for me that sharing our story with others in similar communities across social media circles, in conjunction with research, really could help save lives and lead to discovery in diagnosis not just for our child, but for many other children born with similar conditions.

7. Don’t hesitate to ask questions. Since I have no medical degree, asking questions to our medical team was my way of engaging in the process and trying my best to understand what was going on. Over time, by understanding my child’s unique symptoms and how this causes an unclear diagnosis, I ended up helping others across the hospital — from residents to nurses — in learning more about a diagnosis “outside of the box.” Asking questions also pushes medical providers to think and admit what they’re searching for themselves.

8. Go down every avenue, no stone unturned. We exhausted all options with testing. And it was indeed exhausting and not always a pleasant experience. But it was necessary, and whole exome sequencing uncovered novel mutations to four genes that mostly likely led to our child’s failed immune system and regulation issues. This stone uncovered is one step in the direction for researchers to discover our child’s unique diagnosis origin and possibly connect it to others. Our child ended up needing a bone marrow transplant in hopes it will cure his not clearly diagnosed disease since, even without a clear name or code, it was declared his immune system was “not compatible with life.” If we and his expert doctor didn’t uncover all stones, we may have learned this too late.

9. Find a method for organizing all the details. We constantly get questions about our child’s case. I’ve committed as many details as I can to memory. Access to online medical records from our provider has been especially helpful in completing paperwork. My husband and I have done a divide and conquer approach to the clinic visits, pharmacy requests, home health deliveries, disability case and paperwork. It’s a full-time job, and we’re still not organized enough.

10. Love. Sometimes when we’ve done everything we can medically, we love. We tell our brave child and his strong sister how much we love them. We heard once that “the best medicine for humans is love.” Someone asked, “What if this doesn’t work?” The response: “Increase the dose.” Even when waiting for a diagnosis, we can always increase our dose of love.

11.  Wait and repeat. It’s not easy. But it’s possible. We’ve gotten used to waiting and repeating — and you can do it, too.

The Mighty is asking the following: Write a letter to anyone you wish had a better understanding of your experience with disability and/or disease. If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.