Author: Rachel Alves

This first week has exceeded my expectations beyond belief. Audrey has gained more control of her body. She’s eating better and even sleeping a little better! Amazing what one week of intense therapy has done! 
The thing that touches me the most about being here though is how much hope they have for Audrey. I am so excited to share what we have learned with her team back home and have already ordered a few of the things they have used with her! 

Although there is no magic remedy to get Audrey sleeping better, I have learned that we have to remember to separate sleep and calm with her which is an unnatural way of thinking. She has a hard time calming all of her body parts, so for now, that is our focus. The hope is that as she gains more motor control, calm body will translate into more restful sleep.

I also was told that it’s good we sometimes do see her sleep soundly. That means she’s capable of it. We just have to train her muscles to not always be going and this has already improved this week!  

We have rented a car for the weekend and are going to explore Roanoke, VA.  

Happy Friday everyone! 

Day 1 of therapy Assessment day: Our occupational therapist working with Audrey is amazing! Kind, patient and so good with her! Today was a 3 hour assessment. Audrey did really well. Fussy at times but powered through! We discussed concerns and goals at the end. Can’t wait for tomorrow! 

Day 2: lots of working! sensory beads and bean bucket she loved. They used a small step stool for tons of activities including her getting herself dressed which was amazing to see some independence. I learned so much today! We need to Isolate Audrey’s muscle that we want her to use because what’s happening is her whole body “fires” (this means she extends her muscles) and its too much for her, causing them not to work properly. With CASK diagnosis, we know that motor planning is very delayed and therefore we have to break down each and every step of a skill. We don’t go from crawling to walking with our kiddos! I have to train the way I think as a parent as well . Im learning so much from the wonderful therapists and they even said it’s okay to be just “mom.” This is something I struggle with on the daily so to hear it from them was huge!

Day 3: SO much progress is happening! Today Audrey dropped the ball in a toy 3 times, reached and planted her hands then pushed up to stand with little support and has even started to sign “more” when prompted! Makes me want to never leave!  

We were taken to their research facility today to do some imaging and met the main researcher. Such an amazing experience 

Due to lack of federal funding, Audrey is only the 3rd CASK child to receive this treatment so far… it’s ground breaking research and we are so fortunate to have this opportunity. Being here gives me so much hope for Audrey’s future but is also so mind boggling  to know that no one else is studying this rare disorder. Dr. Konark is very passionate about the work he does and says spreading the word is the best thing we can do. 

Please go to http://www.caskmutation.org for more information on the research that is being done and if you are able, please donate! 

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I know we have been so fortunate to not have a lot of medical challenges so far with Audrey’s diagnosis but this no sleep thing is rough! I long for the day that I can say “I can’t wait for bedtime!” Hearing others say these words makes me very envious and sometimes even angry because to me, bedtime is torture and possibly means that I will be up with her in 1 hour then in two hours then possibly for the rest of the night. Every parent knows how awful sleep deprivation can be; That afternoon cup of coffee necessary to get you through the day.  

For my husband and I, this is a nightly battle. Audrey hasn’t slept through the night in over a year. Her constant waking, restlessness and muscle spasms are so hard to manage. Lack of sleep is a nasty thing and makes you act very irrational sometimes. We have tried it all: melatonin, weighted blankets, soft music, rocking, massages before bed… One of my many hopes on this journey is to learn techniques to help her stay asleep longer, more peacefully and teach her to be able to self soothe better (this is a skill she does not have)

Being tired is awful but seeing your little one struggle to sleep is even worse.  

Rest up baby girl, mommy and daddy want to see you thrive. ❤

Hi all! Well, we survived our first big trip and boy did Audrey kick some major CASK booty!  She did amazing. After having a very rough (but pretty typical) night of limited sleep, we hit the road to the airport at 4:30am. We flew from Sacramento, CA to Chicago for a short layover, then Chicago to Roanoke, VA.  What a day! As exhausted as we all are, it was such a smooth and successful trip.  Audrey was entertained by Mickey Mouse clubhouse episodes and some snacks.  But mostly she won everyone over with her happy demeanor and adorable smile!  SHE WAS A CHAMP 

I feel especially lucky to call this sweet girl my own today.  She brings sunshine wherever she goes.

We start her therapy Monday morning so stay tuned! #kickingcask#virginiababy 

On December 3 of 2015, our lives changed forever.  I received a life changing phone call from our genetics doctor… our biggest fear had just become our reality.  We learned that day that our precious 10 month old baby has a very rare genetic disorder.  We were told that she may never speak, never walk and may have severe intellectual disabilities.  It was a shocking phone call to say the least.  Once the immediate shock wore off, I did what anyone these days would do, I searched the web.  Boy was that a big mistake!  The horrible stories, statistics and pictures I was seeing made me feel so helpless and hopeless.

Needless to say, it took me and my husband awhile to grasp the concept.  In fact, one year later we are still working on this.

After finding some other families dealing with the same disorder, I became Audrey’s number one advocate.

She recieves 5 therapies weekly.  Occupational therapy, speech therapy, physical therapy, child development intervention and feeding therapy.  Although it has been a very hard year, Audrey slowly but surely progresses.

We have an amazing opportunity happening next week which is why I started this blog. My mom, Audrey and I will be going to participate in a study being done at Virginia Tech for 3 weeks.  She will receive intense therapy there for 4 hours each day.  We are so excited and fortunate to be able to take part in this   I hope to blog our trip as we go!