The day we got the diagnosis

Today has been a crazy day. Over the weekend we received an email from Henslee's geneticist saying that Henslee's results for Pitt-Hopkins syndrome came back negative.  I bawled!  It seemed like it was the closest thing that we had to our Henslee.  Over the last few days Jesse and I were able to talk and make a game plan.  We are a pretty good team.  I am so grateful I have him on my team to help comfort me and encourage me to buck up and realize IT'S GOING TO BE OK!  Well our plan was to stop testing, let it go a couple of years and maybe something new would show up.  It is an emotional roller coaster waiting 6 weeks to find out if this is the right fit for a diagnosis or not.  We have waited the 6 weeks I believe 7 times all coming back negative.  Its become exhausting.  Not only for us but I know Henslee doesn't appreciate getting poked and prodded  all those times.  Well  I informed the amazing people that I have come in contact with that their children have Pitt-Hopkins syndrome that Henslee's test came back negative and that we were pretty much done with testing.  Their responses were DO NOT GIVE UP HOPE.  They all showed me new websites to go to, to learn more about different diagnosis, different tests we could do.  So I was up until 2am last night researching again! Coming across so many diagnosis that really fit Henslee but then also didn't.  I informed her geneticist this morning of all my new discoveries.  He felt that it would be good to do one last test.  A WES (whole exome sequencing) It is where we would take blood samples from Both of Henslee's birth parents and compare their genetic  makeup with Henslee's.  The problem was that this test typically runs $12000. But a lab is currently doing it for a donation of $500.  So I contacted Jesse ( who is out of town) to see what my team member thought of all the new discoveries.  He felt like it would be a great last test to run.  So I went to email our geneticist back and I noticed I had an email waiting for me from a Dr that we saw in San Francisco at Katies Clinic for Rett Syndrome.  I had heard that they were still looking into a diagnosis for us. Which both Jesse and I thought was incredible since we hadn't seen them since last December, Read about our visit here...Katie's Clinic visit

This is a part of the email I recieved from Dr. Mary Jones @ Katies clinic:

Dear Jaymie, 

  I have now spoken with 2 other researchers  in LA and at the MIND institute and we are willing to call this a disorder of MECP2  very atypical Rett  It is likely due to chromatin binding which then affects other genes. We will keep looking for other kids with this polymorphism at 1233 and their symptoms so far are all different.  MECP2 regulates many other genes and we are just learning which ones are affected by  the MECP2 gene.

 

I couldn't believe it. I had to read it a million times for it to actually sink in. Henslee has a  diagnosis. Henslee has a diagnosis. We have been searching for a diagnosis for 2 years and we now actually finally have it.  When we did testing for the last set of Rett Syndrome tests in October of last year Henslee's test came back normal.  Henslee did have a nucleotide sequence variant on the MECP2 gene.  Which means she is not missing any part of the gene, like most Rett girls but the sequence is not in the right order.  It just so happens to be on the exact gene that Rett syndrome affects.  So now after Dr. Mary's research she is now calling it a atypical rett/mecp2 disorder. 

 

 I still am in shock over it.  The weird thing is the way I feel.  I have been crying ever since reading that email.  I have cried because we have an answer.  I have cried because we will now receive services that Henslee so badly needed and without a diagnosis she wasn't able to get.  I have been crying because now I have some answers, not all but at least some.  I have been crying for the fact that now my 3 year old daughter who has been tested numerous times will not have to go into another lab and have her blood drawn.  I am crying thinking back at this crazy and emotional roller coaster we have been on.  I am crying at the thought of being part of the beautiful Rett Syndrome family that we have met and loved from the moment we first contacted Katie's Clinic for Rett Syndrome.  I am crying because we have direction.  I am crying for the amazing love and support given to us by so many family members & friends.  I am sure they began to think I was a crazy woman.  I am mostly crying for the gratitude that I have.  Gratitude for all those that did not give up on us at Katie's Clinic. For all those moms that I have met searching out other diagnosis, for them giving me the extra encouragement I needed when I felt I was done.  For them to fully understand why having a diagnosis was so important to me. I have met some really amazing people through the search for Henslee's diagnosis and I am grateful today for them and the chance I had to be able to meet them. The diagnosis does not change Henslee, it does not make anything go away, it doesn't mean we have  special drug to give her to help with her symptoms, it does not change the way we feel about our sweet little Miss. But it does give us DIRECTION. DIRECTION that we so badly needed.