Miracle on My Street

Something miraculous occurred recently and I want to share it.  Actually, I want to shout it from the rooftops.

After 13 years, my daughter Emily has a true diagnosis for her condition.  She has Pitt-Hopkins syndrome.

How did this miracle come about?  Back in 2016, a global autism research study called SPARK was launched with a goal to conduct ongoing research and to provide support for families affected far into the future.  Emily’s doctors at Cincinnati Children’s Hospital encouraged our family to participate and we did.  Lo and behold…they found something.  We were recently contacted regarding the finding and met with a genetic counselor to understand the diagnosis. 

As it turns out, Emily’s condition was caused by one of her genes (TCF4) mutating itself during her development in the womb.  It was not genetically inherited.  This is a bit of a relief for our oldest daughter, Avery, and the future possibility of her having children.  To be honest, it is a relief for me as well.  For the past 13 years, I have wondered and worried if I did something during pregnancy that caused her disabilities.  To have an answer is truly remarkable. 

I praise God for this gift.  I thank Him for the developments in medicine that have led to this discovery.  I praise Him for giving future families an answer sooner. 

To learn more about SPARK and Pitt-Hopkins Syndrome, check out these links:

https://sparkforautism.org

Thank you to all of my family, friends, fellow #HRPros, and everyone who has been so supportive.  This journey has been interesting, to say the least.  I could not get through each day without the constant love and encouragement I receive.  I am truly blessed to have so many wonderful people in my life. 

What miracles have you experienced???

Merry Christmas, Happy Holidays, and a very Happy New Year!