The Day We Joined a Family

talynn.jpgTwo years ago, we received the phone call we had waited almost a year for. We were in need of answers. Our beautiful daughter had been hospitalized almost every month. She was seen by multiple doctors but no one had an answer. She could not drink a bottle without choking, she was not gaining weight, she did not move for the first 6 months of her life, she had very low muscle tone, she could not see without glasses, and had mild hearing loss in her left ear. All test up until this point came back normal.

The call was from our geneticist. They had the results of the blood work we had sent off. We did a slice of the Whole Exome Sequencing Testing. This slice tested the ASXL1, ASXL2, ASXL3, and CD96 genes. We had clinical evidence that Talynn had a ASXL1 mutation but we wanted to be safe and test all the sister genes as well. Well, Talynn’s clinical diagnosis was confirmed. She had a mutation on the ASXL1 gene. This mutation is what causes Bohring-Opitz Syndrome.

talynnsBohring-Opitz Syndrome is a very rare genetic syndrome with fewer than 80 cases worldwide. This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene. The leading cause of death is respiratory infections. Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delay, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on.

According to the testing results, Talynn was the 43 patient genetically diagnosed with BOS. Based on the little bit of information they had on BOS, we were sent to many specialists and had different tests ran. All of her tests came back okay, except her MRI. It showed that she had partial ACC. Of course, we jumped on google and tried to research anything and everything there was about BOS. We realized that this syndrome had a high infant mortality rate and there was hardly any positive information on it. We knew then, that we needed to cherish every moment that Talynn is with us. I also knew that I wanted to change the perception of this syndrome to the public.

I joined a BOS Support Group. The families in this group were AMAZING! The year that went by with no answers finally made sense. These families had been through this. Talynn had a group. We had a place we could fit in and express our concerns and they would understand.  I wanted to do everything I could to make sure other children and families did not have to wait for a diagnosis. I created a facebook page for Talynn and reached out to various organizations, foundations, tv shows, etc.  awarenessday.jpg

Talynn turned 1 (13 days after being genetically diagnosed). She now had 12 specialists and therapists. She stayed sick her entire first year of life but the second was looking brighter. She had a gtube and nissen surgery. This surgery helped her a ton. She was finally able to gain weight and not vomit everywhere. She started developing and doing really well at therapies.

I wanted to recognize all of these strong children living with BOS. BOS needed an awareness day, colors, and a ribbon. With the help of the parents in the Support Group, I was able to have a ribbon created, colors chosen, and the first annual BOS Awareness Day!

meetup.jpgWe also had the chance to meet a few BOS families. This experience was amazing. I knew that it needed to become an annual event and we needed a Foundation. A foundation, that would help spread the knowledge on BOS and help with research. A few months passed, and another beautiful girl, Hazel, was diagnosed. Her mom had the same vision as me. We joined together and created the Bohring-Opitz Syndrome Foundation. The foundation is dedicated to improving the lives of people affected by BOS through the establishment of a medical advisory board, awareness initiatives, and parent/patient advocacy.

As the years have passed, Talynn’s sickness has became less.  She still has respiratory talynn3.jpginfections that cause hospitalizations but nothing compared to her first year of life. She continues to get stronger but still has some scary set backs. She’s had two seizures, coded once, and pneumonia multiple times. We always pray everytime that these scares do not stop her development. She has worked hard over the years in therapy and we are blessed to have such amazing therapists and nurses that care for her.

This day will always have a special place in our hearts. The day we got an answer. The day we joined a family.

 

Love,

Taylor Gurganus

tngurganus@gmail.com

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