1 more test

Playing in the Geneticist's office  with Daddy!

After waiting for almost 9 months we finally saw a Geneticist for Henslee in Utah.  We wanted to be established with one in Utah for any future appointments we would need.  We were able to get so many answers with our Visit to Katies Clinic in December Read about our visit here.  We were not looking for any answers when seeing the new Geneticist but just wanting to have one.  While there he again reassured us we had done ALL the tests he would do.  He told us "I hope that there will be a test that can be done sometime in her childhood that could determine what her diagnosis would be". He said that "Henslee was a very good combination of symptoms similar to Rett Syndrome and Angelemen Syndrome" (both tests that she has already tested negative on)  He told us that day that our little Miss was 1 in a million :) We left that day feeling very comforted.  Knowing we have done all we could do for our Little Miss in trying to find a diagnosis for her. We would go forward with her planning for her to achieve anything! No restrictions no limitations. She is and  will be capable of ANYTHING!!

Fast forward 1 week.

 I received an email from her Geneticist letting me know he met with a group of Doctors that he discussed Henslee's case with. They all agreed it would be best  we ran 1 more test. Testing her for Pitt-Hopkins Syndrome. He said he had thought of this diagnosis for her at our appointment but quickly ruled it out since Henslee does not have seizures or severe constipation(which she has just not severe). Pitt-Hopkins Syndrome has many characteristics similar to our Henslee. You can read about it here. Pitt-Hopkins Syndrome

At Primary Children's hospital for 1 last blood test

Henslee is an inspiration to me.  She encourages me to do better.  She helps me see the small things in life that are so important!!!. She helps me understand the things in life that just do not matter!! She helps me want to be more understanding more sympathetic and less judgmental. I could never have imagined I could learn so much from such a small little Miss. I have learned so much more about the important things in  life in the 3 years that she has been a part of mine. She brings more Joy to me than I could've ever imagined. I am incredible lucky that I get to be a part of her life.  So here we go 1 more test. This test will not change much, I will continue to be taught by her. I will continue to love and encourage her to do ALL that she can. Because she is an inspiration to me!