Annual Rett Syndrome Conference

 This was our first year to attend the Annual Rett Syndrome Conference.  We had been looking forward to this for months. We couldn't wait to meet new families, new girls and become more educated on the ways we can help Henslee progress.  We went and sat down in a large conference room surrounded by beautiful Rett Syndrome families. We found our great friends that we met last year when we were just starting down the Rett Syndrome path.  Read about that meeting here..http://misshenslee.blogspot.com/2012/08/our-new-friends.html
It was nice to have a familiar face to sit next to.  As the conference started I looked around the room to see this new family that we were a part of.  Its weird we had been so excited to come to the conference but as I sat there looking around the room I felt this instant sadness.  My heart ached.  Its as if reality came and smacked me in the face saying this is your new life.   Its easy to go through my day with Henslee and not think "oh Henslee has Rett Syndrome".  But when you are in a room surrounded by girls and families that are dealing with Rett Syndrome reality just hits you,  Henslee does have Rett Syndrome.

Throughout the day we were able to meet many new families.  Families going through the same thing we are, dealing with the same issues we deal with, feeling the same emotions we feel.  The feeling of sadness quickly left and I was engulfed in the feeling of Gratitude.  Gratitude for the beautiful people I meet because of Henslee.  Gratitude for  truly having a beautiful Rett Syndrome Family.  Mothers that are their for me to contact anytime I have concerns or questions.  Someone to hold my hand as we go through the challenges we face with Rett Syndrome.   I am truly grateful for these amazing people I get to go through this journey with.  And mostly grateful for my little Miss that I am lucky enough to be her momma!

Picture ExchangeCommunication System

We started with the first stages of the PECS ( Picture Exchange Communication System) with Henslee. SHE HAS DONE AMAZING!!! I love to see her choices. First Choice of movie was TOY STORY,. First Choice of  snack NUTRI GRAIN Bar :) I made 1000 of the small pictures that you see in the top right picture. Well those didn't work out so well so I have just taken my own pictures, printed and laminated as we go. She does well with about a 3x3 card. They are easier for her to see and grab. The other ones were way to small. Maybe as she becomes better we can start incorporating the small cards. IT IS SO MUCH FUN TO SEE HENSLEE HAVE A VOICE!! 

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.

Events over the last week

We are still currently waiting on the test results waiting for the possible diagnosis of PITT-HOPKINS SYNDROME. To my knowledge there has not been an individual diagnosed with Pitt-Hopkins in Utah. While doing a little research, ok maybe a ton I came across another mom that was currently waiting for her 3 year old sons results testing for PTHS (Pitt-Hopkins Syndrome). We were able to chat on the phone and then get our kiddos together last week. Our kids had so many of the same characteristics!! The way they moved their bodies, the toys they liked, the reactions in different settings. They were extremely similar. It was so nice to meet a family that was in the EXACT situation we are in. They were a beautfiul family with a beautiful little boy. Their was a big difference in size. Miss Henslee had him by at least a foot :)

Henslee's new friend kept trying to hold her hand while they watched their favorite show. Baby signing time

That day we were also able to finally meet with a Sleep Specialist. After seeing the Geneticist in February and letting him know of our concerns with Henslee's sleep he referred us to a sleep specialist. We have been waiting 2 months to see her. Nothing is quick when it comes to specialists :) We started Henslee on a medication called Trazodone about 6 months ago. At the time she was up bouncing and laughing ALL throughout the night. A few months later she started waking up Screaming. So for the last few months sleeping has become a big issue in our family. We upped Henslee's dose of Trazodone which seemed to help for a few weeks. But it quickly turned back into screaming fits from 2-5 am. The Sleep specialist had us  up her dose of Trazodone again and also start her on a medication called Chlonodine. We have done that and the screaming fits have calmed down, but she still is not sleeping. We hear her up a few times a night but I will take that over the screaming any day, I'm sure Henslee would agree. The Sleep specialist was also concerned that Henslee may be having Frontal Lobe Seizures or absence seizures. She would like us to have a full 24 hr EEG and a perform a sleep study on her at that time, but she would like to get Henslee sleeping before we start that. I have always wondered if Henslee was having those types of seizures. When I think of the word Seizure my heart aches. I am scared and have been scared for the past few years of laying Henslee down at night and her having a seizure in the middle of the night. My hubby is great to remind me not to worry about things that have not happened.  Which it does give me a ton of comfort but I still have that fear deep down in my stomach.

Speaking of sleep, Henslee is still currently in a crib. An altered crib, done nicely by my husband to be able to accommodate our needs and Henslee's needs. But she can not be in a crib forever so I have been looking and asking around about a safe bed for Henslee. I have had multiple people refer me to this site. http://www.cyrdesigns.com/ 
for this bed.....

It looks like an extremely safe actually perfect bed for Henslee.  But for some reason as I look at this bed I just cry. This is not the kind of bed I envisioned putting my little girl to bed in each night. I imagined a beautiful day bed with a draping white canopy, with beautiful pink pillows and baby dolls laying on it. Miss Henslee would not be safe in a day bed with a draping white canopy. I can not have pillows in her bed because all she will do is bounce on her face on the pillow all night. I do not put baby dolls to bed with her because she does not like dolls! Sure this bed comes in different colors which would be nice,the blue part could be a pink,  I could possibly paint the wood a crisp white and add anything to dress it up on the outside but it still is not how I imagined it. There has been so many changes to "my plan" I'm not sure why this silly bed is causing me so much heart ache. I know it's just a bed. So for right now I think I might just be a little sad about this bed. But tomorrow I will wake up and go to my beautiful daughter who will be yelling for me to come get her out of her crib and it will all be fine. This bed will not matter because what matters is Henslee. I will trade any silly type of dream of a silly bed for the moments I get to have with my EXTREMELY SPECIAL DAUGHTER! I will remember that my plan is not HIS PLAN and HIS PLAN his far greater than anything I will or could in vision for myself.

Super Awesome

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!

She's fine

On Sunday I saw this clip on Facebook. 

Yesterday I took the kiddos to McDonald's to play and get a kiddie cone!  Our small little town doesn't have much to do other than that, especially since there is a foot of snow on the ground :) There were a few families there.  Many commented on how cute my kiddos were, many asked about Henslee, how old she is etc... While trying to talk to the few that were talking to me I ran like a crazy woman all over McDonald's trying to keep the kids in the play land, keep Henslee from stealing others food and keep her from eating things off the floor. ( Sounds like a lot of fun right? :)  I watched as Henslee quickly went up to the table of a family with an older gentlemen with his back turned away from us.  Henslee snatched up one of his fries faster than I could get to her.  He was visibly VERY upset.  I apologized over and over to him.  I was dying inside.  I'm sure he was thinking the same thing the gentleman in the video clip, "where are her her parents" "what a bad mother" "she needs to be taught better than that". All these thoughts came flooding through my mind as I see the look on his face.

 His wife who sat next to him had been watching Henslee while we had been there.  I'm sure she could see the panic in my eyes.  I look to her as she says in a whisper " She's fine"," It's all right", "She's fine". She will never know what those few soft spoken words meant to me.  I am extremely blessed to see such compassion and understanding in complete strangers that I meet on a regular basis! I never want to forget these special moments that I get to experience because of  my sweet little Miss.

ps she wears Minnie Mouse slippers on a regular basis. This little girlie will not keep ANY shoes on or socks for that matter. So we stick with our Minnie Mouse slippers to be able to put them on easily!