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!

FIRSTS

 Henslee had her FIRST BUS RIDE!! When we went to Henslee's first IEP we discussed options for Henslee's separation anxiety. Her teachers recommended she ride the bus. I had always planned to take her and pick her up, but after their suggestions to help with her separation I was willing to do what ever it took to get that little Miss comfortable without me. 

Waiting for the bus!

 Henslee had her FIRST DAY of Preschool! Here she is right before. I think she was a little excited about it!! She shed a few tears for the first 2 days but since then she has been AMAZING!!!!. I was so relieved to hear that she didn't scream and cry the entire time, which that is what she has always done when she is away from me. It got to the point over the summer she wouldn't even stay home with her daddy. So proud of my brave girl!

Henslee had her FIRST DAY IN PRIMARY!! I can't believe she is old enough to be in Primary! And once again she did great she stayed in singing time/sharing time the entire time by herself. They came and got me when it was time for class, but once again she did it by herself. My little Miss is becoming so independent! We've debated for a while if we needed to have somebody called to be Henslee's helper in Primary. Well we decided that it would be best, I was so worried they would call someone that was maybe a little too old or fragile. I needed someone that could take care of Hens and the best thing happened this week. They called Sharon to be a special needs primary worker for Henslee. She is an AMAZING woman in our ward. I could've cried she will be INCREDIBLE with Henslee.

Another FIRST for Henslee was that she was able to stay home with a baby sitter without screaming the whole time!! I never thought this day would come. Jesse and I usually don't have a sitter come until after the kids have gone to bed, due to Henslee's tantrums. Well I guess now Henslee is understanding that we come back or that she comes back and no one is gone for too long. For the first time in 3 years we are able to get a baby sitter on the weekends. I actually hugged the babysitter before she left. This little Miss is growing up so fast. I love being able to experience all these FIRSTS with her!!

Our visit to Katie's clinic

A few months ago when Dr Winters at Primary Children's suggested that Henslee may have Rett syndrome I dove right into it on the internet looking for any information I could about it.  I came across Katie's clinic for Rett Syndrome.  I called that day and spoke to an amazing woman Erica a mom of a daughter with Rett Syndrome.  I found so much comfort in speaking with her, I scheduled an appointment that day.  Fast forward a few months Henslee was tested for ALL cases of Rett Syndrome.  We received all blood work back stating that Henslee did not have Rett Syndrome.  So I called and spoke with Erica again but they still suggested it would be a good idea to visit their clinic since Henslee shows so many of the characteristics that girls with Rett Syndrome have.

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!

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.

Sleep

Sleeping in our house has been quite interesting for the last few months. We noticed over the summer while we had family spending the weekend at our house we had Henslee sleeping in our room. We woke up to her at 1:30 am hysterically laughing.  Then a few months later while camping we noticed she was not sleeping at all but bouncing in her pack n play. Both have gotten extremely worse in the last few months. On average Henslee sleeps from 7-11 pm and then is up bouncy and laughing until the next morning. She is losing at least 4-5 hrs a sleep per night due to bouncing.

 

 We have talked to all of her therapist about this and no one can seem to come up with anything to help. We tried Melatonin which is supposed to help with sleep. It will help Henslee go to sleep but will not keep her asleep. We all need our sleep. She is becoming very agitated/angry during the day and I can only imagine it is due to no sleep. We ended up taking the springs and base out of the bottom of her crib so she was unable to get the extra bounce from that. We also saw her pediatrician who prescribed her Trazadone, a medication to help with sleep. We gave it to her for the first time last night so hopefully we see a difference. She did wake up today pretty angry so I will keep my fingers crossed that it will eventually work.

Another thing we decided to do was put a gate in Henslee's crib. My hubby is a genius. It has been getting quite hard to get Henslee in and out of her crib. Our little Miss is at 41 lbs and while she is throwing her tantrums she might as well be 100 lbs. So Jesse installed a gate so she is able to get in and out of her bed on her own!! Yipee! My back is shouting HOORAY!!! We tried it with just an opening for 1 night but after we put her down we could hear her in her room destroying everything. So for her own safety we installed the gate. Which keeps her safe and sound in her bed!! She even knows how to get in and out. This little Miss is so smart!

After putting her in their for the first night and locking the gate it made me really sad. A gate with a lock on my daughters crib??? What the heck!!  But I have to realize we do things a bit different around our house. We do what we need to. We do what is best for Henslee. We do what is best for our family. So what if it's different? So what if it's not the norm. WE are definitely not the norm and to be honest I am glad we are not the norm.

Therapy

This morning Henslee had Therapy with Brian her Occupational Therapist. We have been testing out a Listening Program. Henslee will wear head phones and listen to different frequencies of music. The first time we tested it on her she shocked us by actually keeping the head phones on her head for 10 min!! Well today after having her listening session of 15 min and keeping the head phones on pretty much the entire time she was  new gal :) She sat on Brians lap for a good 30 minutes while they read books together. I have given up on having Henslee sit on my lap to read books. She hates it, she arches her back and yells. She just wants down. So I been reading to the kids while they are strapped in their highchairs and entertained by eating. So to have her sit and read books and really look at the pictures for 30 min was INCREDIBLE!!! I am so INCREDIBLY grateful for ALL of Henslee's therapist. They are all INCREDIBLE people and have helped me more than I could ever imagine. They love Henslee and I can see that by the way they treat her and love her while they come to our home to help us learn and better understand the needs of Henslee. Today was a great day! So Thankful for Brian to be in tune with Henslee and to see her needs.

Couch climber

That's right Folks we have a couch climbing little girl!! Who would've known  a Pez candy would be such a great motivator!!