Does a diagnosis change things?

IMG_5483My daughter was diagnosed with Bohring-Opitz Syndrome (BOS) on May 9, 2015. She was 20 months old at that time. We knew about a week in advance that whole exome sequencing showed a mutation, and the genetic counselor wanted us to come in at the earliest possible time. We had to drive down to Orlando and take the day off work. I was nervous about getting the diagnosis, but I was also excited to finally have an answer. Every test prior had come back “normal”. But my daughter was not displaying normal development. She was severely behind at this point, so we had long ago given up the idea that she just “needed to catch up”.

I wanted a diagnosis so that we had a new path of treatment to take, and I wanted to belong to a community of support other than those who were all grouped together as undiagnosed. At this point, the closest diagnostic group to which I felt we belonged was the Facebook group “Hypotonia Parents Connection”. (We are still very active in this wonderful group.)

We nervously waited in the reception area, and were called back very quickly. The genetic counselor proceeded to tell us that our daughter had a rare genetic condition called BOS. There were only 42 published cases of this syndrome worldwide at that time. Interestingly enough, I had already heard of this syndrome due to the awareness initiatives of another BOS mother.

The genetic counselor did not seem to be knowledgeable about the syndrome. She just read the symptoms from the bohring-opitz.org website. She handed us the printout of the website and recommended that we join the support group on Facebook. She gave us the only paper that had been published on BOS in the US, which had some recommendations on preventative treatments based on studies of previous patients.

We left feeling indifferent at first. During the two hour ride home, we called family and told them the diagnosis. We told them we felt no different – that they could have told us she had “Hazel Syndrome” and it would have felt the same. Our daughter was still our daughter and had the same symptoms regardless of the diagnosis. The visit with the geneticist was a blur, but the two points that really hit home were:

Hazel would never live independently. She would always be dependent on us.

The mutation was a spontaneous one, so we would have an almost zero chance of this happening again with a second child.

However, the days following the diagnosis were very rough. We read the medical literature and the outlook was dim – children born with BOS often didn’t make it past their second birthday. However, our daughter was almost two, and she didn’t seem to have the severity of syndrome that many of those who passed away did. Most children with BOS have frequent respiratory infections, apneas, and bradycardias that keep them in the hospital. Fortunately, our daughter had not been hospitalized since leaving the NICU at one month old.

I cried a lot when I read about the other children and the severity of their issues. I joined the Facebook group and was immediately accepted into this very active, yet tiny, group. I felt fortunate that our daughter seemed to have a mild to moderate occurrence of this syndrome.

It’s been eight months since her diagnosis, and I am still going through the cycle of grieving for the loss of a typical parenting experience. Yet, when I’m depressed or feeling low, I take comfort in the fact that our experience is helping others who may receive this diagnosis in the future. Every day, I try to do something that helps increase the community of knowledge surrounding this syndrome, or something that touches the life of someone dealing with a similar situation.

And every day I am thankful for one more day with my amazing, tough, and sweet little girl.

To learn more about BOS, visit: http://bohring-opitz.org/

To help other children like Hazel, please consider donating to the Bohring-Opitz Syndrome Foundation:

http://bos-foundation.org/get-involved/

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