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!