A Decade to Diagnosis

 

It’s the eve of Campbell’s birthday and I can’t help but reflect on the last eleven years, particularly the last few months. This past October, we finally received a diagnosis for her unexplained symptoms after a decade of searching for answers.
I wrote about our journey in a blog post where I attempted to give advice to other parents facing the prospect of having a child with an undiagnosed syndrome. I talked about making peace with not knowing several years a go, yet I occasionally wondered if the day would come when we would have a “why” to the cause of her complex medical needs.

That day came one afternoon in the most unusual of places. I was sitting in the food court of the mall waiting for an appointment with the genius bar at the Apple Store.   Anyone who knows me realizes both of those scenarios are the last places I’d chose to be, much less where I would like to receive the news my child has a rare syndrome.
I avoided malls for almost ten years until that point, and do almost all my shopping online. I don’t like crowds, so the mall along with a packed Apple Store where they informed me I had a seventy-five minute wait, made me anxious.
However, my phone was locked up and all the online trouble shooting in the world hadn’t helped. I was forced to face my demons and sit in the food court eating bad Chinese food until the Apple Genius called to tell me it was my turn. *Note: I had my father’s spare cell phone with calls forwarded in case you wondered how my defunct phone would ring.
Instead of a call from one of the so-called geniuses, I recognized a number from Cincinnati Children’s Hospital. I answered it not really knowing who it could be. When your child has more specialists than you can count on two hands, you never really know unless you are waiting for a callback. Once the genetic counselor announced herself, I immediately felt my heart beat pick up because I had a feeling it was the results from the genetic testing we had six months prior.
My suspicions were confirmed when I heard her say, “We have the results of the whole exome sequencing. I’d like to give them to you over the phone if that’s okay with you.”
Of course it was! I had waited more than a decade. I sure wasn’t going to wait until they could squeeze us in for an appointment.
“We found a diagnosis we believe fits Campbell’s symptoms,” she continued.
At this point I felt like everything was going in slow motion. I knew everything in the past ten plus years would now be classified as a “before” and in a few seconds there would be an “after.”
Having been in the special and complex medical needs world for a long time I was all too familiar with many of the syndromes and potential diagnoses that were possibilities. And maybe the prospect it could be something I hadn’t researched was even more frightening.
Would it be progressive or life-limiting? Would there be a medicine or a treatment we hadn’t considered yet?
I stopped my train of thoughts and just listened.
The counselor explained that Campbell had a mutation on the ASXL1 gene, and along with her clinical symptoms, they felt confident in giving her a diagnosis of Bohring-Opitz Syndrome (BOS).
I immediately felt relief and excitedly said, “Yes! I know exactly what that is!”
I explained that a mother of a child with BOS, Taylor Gurganus who also has a blog and co-founded the Bohring-Opitz Syndrome Foundation, Inc., contacted me on social media right before we had testing done. She had seen Campbell’s pictures and read her story wondering if she had been tested for BOS.
We talked and she shared information about her daughter including several online resources. As soon as I saw her daughter, Talynn, I was shocked at how similar she looked like Campbell at her age. I began researching and while Campbell didn’t have some of the more common symptoms like frequent respiratory infections, I was definitely intrigued that it was a possible diagnosis for her.
I brought all of the information I collected to the geneticist’s appointment. We had a lengthy discussion about whole exome sequencing and the potential of Bohring-Optiz Syndrome being a diagnosis. He agreed it was a possibility but confirmed my questions that she would be somewhat atypical without the frequent respiratory infections and birthmark. There were a few other reasons but those were two that stood out.
As I’ve learned, when your child has a rare syndrome with less than 80 people diagnosed worldwide, the symptom list is still a work in progress. There is a lot of research and data collection that still needs to be done.
As the genetic counselor explained during our call, with any diagnosis not all people will have every symptom. The severity and frequency will change with each person. Although a group of people have the same condition, they are all individuals and will share similarities and exhibit differences.
I continued to explain I was excited because there was a name and a support group. I’d heard from many parents who had received genetic testing results where the findings were so rare there wasn’t even a name.  I found comfort in knowing there were other people out there that had children with similar experiences.
After calling my family and explaining the news, the next person I called was Taylor. It was then that we officially became a part of a new family. The Bohring-Opitz Syndrome family which is spread out across the world.
I have been fortunate to speak with moms in the United States, some that even take their children to Cincinnati Children’s Hospital. I’ve also connected with a mom in the Netherlands who, along with a mom in California and a grandmother in the UK, started a support group on Facebook including a website that has a wealth of information and resources on BOS.
The support Campbell and our family have received has been incredible. Everyone has been very welcoming and helpful. It has been a time of finding peace in knowing there is a “why” to the symptoms she has experienced and knowing you aren’t alone.
Currently, there isn’t a significant change in her treatment and doctors often haven’t heard of BOS, or if they have they note there is so little known it really doesn’t change her current treatments.
However, I have found that through information sharing among parents and doctors, there are pieces to the puzzle of Campbell’s symptoms that we are slowly putting together. It is my belief that it might not only help Campbell, but other individuals with BOS in the future.  (I’ll write more in future posts about how I think it has changed her treatment in my opinion).
It will take time and resources to fund research, but it is encouraging to know that there are people working on studying this rare syndrome. I was ecstatic to learn Dr. Bianca Russell, a geneticist that has done significant research on Bohring-Opitz, is at Cincinnati Children’s Hospital. We have an appointment with her in March and look forward to hearing her opinion on Campbell’s case.
In some ways, the “before” and “after” aren’t so different. Campbell is still the same spunky, happy girl who is developing a tween attitude. She still loves music, watching UK basketball with her pappy and shopping with her aunts. As for the “after,” I think that chapter is still being written. Now, we have an extended family to take along our journey.
Campbell just a day old
So what is Bohring-Opitz Syndrome?
Boring-Opitz Syndrome (BOS) is a rare genetic condition that is caused by mutations in the ASXL1 gene.  It is characterized by intrauterine growth restriction (IUGR), failure to thrive, sleep apnea, developmental delay, frequent respiratory infections, glabellar nevus simplex birthmark, hypotonia, flexion of the elbows and wrists, excessive hair growth and the list goes on.
If you would like to learn more about Bohring-Opitz Syndrome, please click on the links for the Bohring-Opitz Syndrome Foundation, Inc., and the Bohring-Opitz Syndrome exchange.  If you are a parent with a child that has BOS, click here to find the Facebook support group.  Please like us on Facebook and Instagram to keep up with the latest news.

About the author

Michelle

Michelle is a writer based in Richmond, KY who is trying to navigate special needs parenthood and life in an imperfect world, all while keeping her sanity. She is on the board of the Bohring-Opitz Syndrome Foundation and is a contributor to The Mighty and The Today Show Parenting Team. She’d love to hear from you! Send her an email at michelle@chasingthecleavers.com.

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