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!!

Tantrums

Miss Henslee has become quite the tantrum throwing little gal.  It has gotten to the point that I am nervous to take her anywhere. When the tantrums started a few months ago they were at home. Then she started throwing them in Daddy's car. So we began to think that she hates Daddy's car. Well she started throwing them at the store, in any car, pretty much anywhere.

These tantrums are not the typical tantrum. I know what a tantrum is. Henslee's little brother throws them quite often but the difference is he settles down after 5 min. Henslee will last for hours, sometimes the entire day. With Nixon I can reason with him ask him what he needs and he can tell me, Henslee on the other hand can not!  She is suffering. She is so frustrated. She is so sad. She is just down right mad! And as her mother I can not help her. I can't hold her without getting elbowed in the nose, punched in the face, scratched in the chest or bitten. She is getting to big for me to handle during the tantrum. I have to just let her be. We were with family over the weekend and it happened to be one of her bad days. We were celebrating a birthday, which should be a ton of fun right? Not in our case. She was mad. So I went to put in her in bed and just held her, I held her as tight as she would let me and she bawled. I bawled.   We are seeing her pediatrician on Monday. I hope that they will be able to give us something to give her to help calm her down. It breaks my heart. Henslee has always been one of those easy going little girls. She has never really been a crier. Even when she was little she didn't cry, hardly ever. I just hate to see my little Miss so frustrated. I can't even begin to imagine how frustrating it is for her to not be able to tell us why she is so upset.

Incredibly Blessed

There were moments throughout my life that I wasn't sure if I would ever hear these words. I am incredibly blessed to have these 2 beautiful children. I am a mother through the Miracle of Adoption. These kiddos were placed in our home by 2 loving Birth Moms and I am lucky to have been CHOSEN to be their MOMMA! There are moments of being a mom that are extremely frustrating I'm not going to lie. It is the hardest job I have ever done or will ever do. But these kids bring more JOY, LOVE and LAUGHTER into our home and I thank Heavenly Father everyday for allowing me and trusting me to raise these most precious little ones.

Round 2 or 3 or 4

Well I've actually lost count of the times Henslee has been tested for SOMETHING? After finally getting  a hold of her Geneticist after 3 weeks of calling to talk to her regarding Henslee's last blood test,  she ordered more tests! I was a bit frustrated at the beginning of the call because I asked her if we had done the COMPLETE test for Rett Syndrome ( I already knew we hadn't because of an amazing women at Katie's Clinic for Rett Syndrome that I was able to fax the results to her) Henslee's Geneticist went on to tell me that she would rather not put Henslee through more testing ( which I agree) but would like to see her get into some Therapies and make sure we were diligent in taking her to them and to see her back in 6 months!!!! WOW Mommy mode kicked in. I then responded by telling her Henslee has been in Occupational, Speech, Physical and Play Therapy since she was 15 months old! Attending sometimes 2-4  of them per week . I can't count the times of driving her, carrying both kids in,  making Nixon sit on my lap while his sister is "playing" at therapy.  She then asked me to "remind" her of Henslee. Describe our concerns. Mommy mode kicked in again..........I would be HAPPY to remind you of HENSLEE! I went on to tell her that she has no speech very little babbling. She is now starting to say mama and baba, :) She is at a 6 month old level with her fine motor skills and around 1 yr old with her Gross motor skills.  She is walking actually really well, almost running at times ( but her walking has been referred to as "Frankenstein" walking) because of her arms and wide stance. She has extremely busy hands and arms. Constantly clapping/ tapping/ putting them in her mouth. Not sleeping well. We hear her up hours at a time bouncy and laughing throughout the night. She is grinding her teeth like crazy and we have started with uncontrollable fits for hours at a time. But other than those few hours Henslee has a very happy, happy demeanor.  After telling her all about Henslee she then said it would be very important to FINISH the rest of the RETT SYNDROME testing and Also finish the ANGELMEN SYNDROME testing. My response to her was we already did Angelmen testing over a year ago. She then went on to tell me that Henslee's Neurologist only ordered it for the 1st test and there was another more specific test that could be done. Wow. The crazy thing is that when we were testing Henslee for that over a year ago we were also shocked when it came back negative. It also seemed to fit Henslee but when the Neurologist called and said she didn't test positive for Angelemen and left it at that we haven't thought twice about it. Not knowing there were more test that could diagnose Angelemen. After Researching it again Jesse and I feel like Henslee fits a lot of the criteria for Diagnosing Angelmen's as well. Both Rett's and Angelmen have a lot of similar characteristic.  So on Wednesday of last week I took Henslee in once again for more Blood tests testing for both Rett Syndrome and also Angelmen Syndrome.

While waiting for our turn in the lab Henslee walked/ran the halls of the hospital :) :) :) Once again she did amazing. She sat very still while a lab tech helped hold her one arm still and while I held the other arm still. She had her blood drawn and for the first time she made a little noise letting us know that , THIS SUCKS. That it hurts. I was happy/very sad that she was telling me that she didn't like this. Every other time she has had her blood drawn she has not cried, wiggled, moved, nothing to show us of her discomfort. But this time she did. She is progressing and I am so Thankful for that. I hope we find answers. But I guess if we don't we will love on this little girl the same as we do everyday and hopefully in the future get those answers we are looking for.