The Emotional Side of Receiving a Diagnosis

No matter when you find out, hearing that your child has a medical problem is never easy. Some of us find out while the child is safe and snug in the womb, some of us find out shortly after birth, and some of us don't hear those words until our children are older. It doesn't matter when it happens, you feel a plethora of emotions ranging from guilt and sadness to a "we can beat this" attitude. Then there's the matter of the diagnosis. For some, such as those with a recognizable disorder, you get your answers pretty quickly. For others, such as those with rare disorders, the process of getting a diagnosis can take years.

Personally, it took two and a half years for us to get a diagnosis for Jaxson. I know that some of you have waited longer and some are still waiting for science to catch up with your child. In Jaxson's case, Kabuki Syndrome was found just over 30 years ago, so even though he has the diagnosis, there is still much to learn about the disorder and the problems that is causes. Kabuki is not the only disorder out there that there is little information on, so I'm sure there are others that fall in line with it. Over the last two and a half years, we handled what we could and prayed about the rest. When the call came with the diagnosis, I actually saw a spike in my anxiety and couldn't figure out why. Then it dawned on me. When you put a name to something, it becomes real. I could no longer pretend that it didn't exist. And that has had me reflecting on the last years and how unprepared I was for these emotions.

I am not your typical woman when it comes to emotions. Most of the time, I have no idea what I'm feeling, so trying to process everything that comes with having a special needs child has been a huge hurdle for me. I know I am not alone in this, and I am still on my journey of discovery and understanding. However, something changes in you when you have a child with special needs. For the last two and a half years, I have gone through the motions. I've taken Jaxson to therapy and specialist appointments, I've stayed with him in the hospital on more occasions than I can count for surgeries and illnesses, I've helped expand his skull, I've done everything that the doctors said we should do. I had no choice because we could only address the problem at hand and didn't have a big picture to look at. But in that sense, I also only had to deal with the day-to-day. I may have wanted to know what the future held, but I didn't and therefore it did not exist for me.



So I wanted to share a few of the things I felt that I was unprepared for, that way maybe those of you who have not received a diagnosis can be a little better prepared than I was.

The first thing I felt was relief. Relief that this part of our journey was over, that we finally had an answer. I felt relieved that I finally had a place to turn with questions, I could finally connect with people who knew exactly what I was going through. I was free to join groups on Facebook where I could find support for everything versus just one issue. I was relieved I could finally do research on Jaxson's issues and maybe find some answers. That was a huge weight lifted!

Then I felt overwhelmed and anxious. Overwhelmed because I could no longer just go through the motions. I had to research this diagnosis, find out everything I could and learn as much as I could as fast as I could. I'm still in that process, although my brain has calmed down. I was anxious to find out if there were other families in my area with this disorder, anxious to see how Jaxson compared to other kids with Kabuki Syndrome.

There was never a sadness when I learned the diagnosis. I know that some people will experience sadness and devastation with a diagnosis because of the implications on their child's life. Thankfully, Kabuki has a normal life expectancy, and that puts us back to feeling relieved.

The next two things I felt were readiness and frustration. It seems weird to put those two together, but that's how they came. After sorting through being overwhelmed and anxious, I was ready. Ready to tackle this syndrome head on, learn everything I could. And that's when the frustration came. Kabuki was only discovered in 1981, which is not a long time ago in the medical world. So finding information on Kabuki beyond what's on the NIH and NORD websites was not easy. There is one main foundation and about five websites housed in different countries for KS. There is still much to be learned by doctors on this disorder, so those of us who deal with it get to be guinea pigs for the time being. There are plenty of disorders that have been discovered even more recently than that, so frustration can play a huge role in learning a diagnosis.

But here's the thing to remember above all else: Generally speaking, the course of action and plan for your child will likely not change much once a diagnosis is received. Putting a name to something gives doctors a better idea of what to expect with various things, but treatment plans like therapies and such are not going to change. For us, Jax is going to be tested for a few things and go to the sleep clinic, but that's just for informational purposes. Others of you will have similar experiences where a diagnosis is received and you need to check for autoimmune disorders, watch for seizures in case that's part of it, and make sure there are no additional clinical diagnoses that would change a treatment plan. I can assure you, there will be a few of you who have drastic changes come when you receive a diagnosis, but most of the time our doctors have a good idea of what needs to happen even if it doesn't have a name.

So prepare yourself for when the call comes or when the doctor decides to put a name to what is happening with your child. You may feel more emotions than I can put my finger on, but definitely know that you could feel the same things even in a different order. Putting all of this together can be very overwhelming, so don't be afraid to lean on your fellow MOMs. We get it! For those of you who have received a diagnosis, congratulations! It's a good feeling to have a direction. For those of you still waiting, keep doing what you're doing. There are rapid advancements in medical science and technology, and science will catch up with you. It's a rough road in of itself and I hope this helps you prepare for what you might feel when you do finally get the call.

***Note for MOM- Whether getting your initial diagnosis, having a child with medical needs that are not yet diagnosed, or adding a new complication to an existing long list, there are emotions that all of us go through. This is often referred to as Stages of Adaptation. As we cycle through the stages we will learn to move through the darker stages quicker, and more productively. It is a constant cycle though. For more on the Stages of Adaptation, please check out this great document. You can find this and many more helpful article on our Hope page.