AUBREY

Meet Aubrey! Aubrey’s story started when she was just a week old. I made a post on Instagram with a sweet picture of her with an offhanded comment about how she always held her head a certain direction. Someone commented that she might have torticollis. At her one-month check-up, we discussed this with her pediatrician who was not concerned. However, we decided to bring this up to our chiropractor who was concerned this was more than torticollis and she urged us to seek out further testing.

That was the beginning, Aubrey was only one month old when we started our journey for answers!  We have seen multiple primary pediatricians, specialist in many different cities, have had countless hospital stays, and tons of testing. Finally, we landed in Huntsville, Alabama at Hudson Alpha for genetic testing. They did not promise us much in terms of a diagnosis and the wait for results took over 6 months. On July 7, 2016 we finally had a diagnosis for Aubrey, Smith-Kingsmore Syndrome. It had taken us over 3 years to reach this diagnosis. Unfortunately, one of the downsides to having this answer was that SKS is such a rare disease. We were told, at this point, there was not much known about the prognosis.  They told us the best thing to do would be to increase awareness.

We left this appointment motivated to find other families and raise awareness. We created a Facebook group for the families of loved ones with this syndrome.  I began posting Aubrey’s day to day life on multiple social media sites with the #smithkingsmoresydrome hashtag.   For over a year, the Smith-Kingsmore Facebook group was only my husband and myself, but we continued to have hope to reach others. Then one year later, we had our first request. Our Facebook community has grown so quickly in the last 3 years. Having the ability to connect people to others who can help them with this syndrome has been amazing for us.

Written by Megan, Aubrey’s mother