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Confessions of a Rare Disease Parent - This is My New Normal

OCTOBER 18, 2015
In November of 2012, my son Beckett was diagnosed at Texas Children's Genetics Clinic with a very rare autosomal dominate disorder called SYNGAP-1 (6p21.3). He was actually the first person to be diagnosed with that condition at that clinic. This disorder causes intellectual disability and severe developmental delays. These include speech, motor coordination, and sensory processing delays. Two-thirds of the SYNGAP patients suffer from some type of epileptic encephalopathy’s and recent genetic studies have found the gene mutations linked to SYNGAP-1 are also linked to autism.

My husband Chris and I are proud parents to 5 beautiful children; Haleigh (23), Taylor (20, USMC), Sawyer (18) and our twins Beckett and Pyper (7). They are the light of our lives. My husband is currently coaching 7th grade football, track and PE and I teach middle school science. We have been educators for 21 years. 

Prior to being diagnosed, we were part of the undiagnosed community. At 4 months old we noticed Beckett was not meeting his milestones with his twin sister.  After many tests and many specialists, 19 to be exact, we finally got our answers after 4 years of searching. The Whole Exome DNA Test was the key to finding out our son's problems.

The diagnosis in November was obtained through perseverance, determination and the will to never give up. And now that we have a diagnosis, those same traits are being used to grow our newly formed advocacy group. Like many caregivers of ultrarare conditions, the best way to organize the community, find the answers you seek, and get the attention of the public, medical doctors and medical research industry. Is to create an advocacy group.

Searching for continued help, I found Global Genes. An organization that is dedicated to eliminate the challenges of all rare disease.  I was given an opportunity to join their Advocacy Leadership Program and Meet-Up Team. I have had the opportunity to be a part of this great organization for 3 years.  Since my involvement, I was able to spearhead the first organization to represent SYNGAP mutations September of 2014.  A group of parents of children with SYNGAP mutations came together to form our organization Bridge the Gap - SYNGAP Education and Research Foundation.  Our mission is to serve, educate and fund research for families coping with the effects of SYNGAP mutations. 

This is my purpose, my new normal. I would not change this journey for the world, as it has made me stronger, wiser and a more courageous person than I ever thought I could be. My experience has made me a better parent and advocate to a child who has taught me more about life than I ever could have imagined. I have found a new inner strength for myself, my family, my son. It has open doors to meeting new families like mine and given me a new appreciation for life in general. It has been a learning experience and I am very encouraged to find an entire community out there that wants to help parents just like mine.
 
 

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