We got back tonight from our visit to Katie's clinic. We had an incredible time visiting San Francisco and seeing all the beautiful sights there. But by far the best was going to Katie's Clinic. We walked in and Henslee was greeted with more hugs/smiles/and joy than I had ever experienced at a "Dr Office" before. I was almost brought to tears more than once over the kindness and love that was shown to our little family. The best part was we felt entirely comfortable. We didn't worry that anyone would judge us or look at our daughter in a weird/concerned way because of the things in Henslee's little body that she cannot control. Everyone EMBRACED her!
It was truly incredible and I wish so bad that people that we see in our everyday lives could see what we have always seen in Henslee and see what ALL the incredible people at Katie's clinic could see in her not just a non verbal/crazy arm and hands little Miss.
We started our appointment at 10 am and it went until 4:30 pm. We saw a range of Doctors including a Neurologist/ Geneticist/ Pediatrician/Physiatrist/ Communication specialist/ PT/OT/Nutritionist and a music therapist.
We saw them all in one day!!
It takes months and months to see any of them and we were lucky enough to receive all their incredible knowledge in one day. We saw the best of the best. These Drs specialize in Rett Syndrome. The Geneticist is a world renound Dr specializing in Rett Syndrome.
Henslee had an x ray done of her little hips. They are slightly off but nothing to alarming. The picture above is her having an ECG done which she did awesome with.
We learned so many new things for Henslee. New ways to communicate with her, new ways to deal with the "tantrums", new ways to make her life easier. We had a million questions answered and came home with a new knowledge of Rett Syndrome. The biggest question we had was DOES HENSLEE HAVE RETT SYNDROME? Even though Henslee's blood tests have all come back negative in regards to having Rett Syndrome there are plenty of girls that are clinically diagnosed. So they are diagnosed off of their symptoms instead of their blood test.
Miss Henslee is a very special case. Girls with Rett Syndrome have what they call a deletion in the MECP2 Gene. Henslee does not have deletions which makes her not have Rett Syndrome. But she does have a nucleotide sequence variant. Which means she is not missing any part of the gene but the sequence is not in the right order. It just so happens to be on the exact gene that Rett syndrome affects. So what does that mean??? Well after speaking to all of the DR's that day there are 6 other children in the world that have the same "mix up" as Henslee. They all show the same symptoms of Rett Syndrome girls. So right now there is no name or enough research that has been done on this specific Mix up. Now we feel very complete and comfortable with the fact that we don't have a diagnosis for Henslee other than something very similar to Rett Syndrome. Before when Dr Winters at Primary Children's told me that Henslee had something "Rett Syndrome like" I couldn't except that. I didn't feel like we had done all we could do to put this puzzle together. Now I feel like we have done all we can, we have seen all the specialist we could see and we finally do have some direction to go in.
We now have a beautiful RETT SYNDROME FAMILY to be a part of. To have help from. To have guidance through this roller coaster we are riding. I needed that help and guidance for my daughter. I had no direction to go in and now even though she doesn't have Rett Syndrome she has the closest thing to it. So we will find help and comfort through those families that are also dealing with the same things we are.
I have learned a lot over the last few days. I was able to see many children with disabilities a lot more severe than Henslee's. I was able fully appreciate the little things that Henslee can do, because SHE CAN DO THEM. I was able to see true genuine love from complete strangers. I have felt comforted by the spirit so strongly over the last few days. I feel completely honored/privileged and extremely inadequate to be able to have Henslee be my daughter. Heavenly Father loves her! He loves her more than I do and I can't even comprehend that. I am blessed and truly HAPPY that I get to be her Momma!
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| Henslee and her new Beautiful friend Avery. Avery's mom is who I first spoke with at Katie's clinic |
To all those INCREDIBLE AND BEAUTIFUL individuals we met through Katie's clinic....
"The most beautiful people we have known are those who have known defeat, known suffering, known struggle, known loss, and have found their way out of the depths. These persons have an appreciation, a sensitivity and an understanding of life that fills them with compassion, gentleness, and a deep loving concern. Beautiful people do not just happen.
-Elizabeth Kubler Ros.
