Emmy attend Intensive Neuromotor Therapy at VTC

Emmy has been given an opportunity that we cannot refuse, but to make it much more manageable for our family, we are reaching out to ask for help in a way we never have before. To be honest, this request makes us feel a bit uncomfortable, but we know this opportunity doesn’t come around often and could be so amazing for our girl!

Some Background:

Before she was born, Emmy was diagnosed with Spina Bifida. At just under 25 weeks gestation Emmy and Christine underwent fetal surgery to repair the hole in her spine at the Children’s Hospital of Philadelphia. The intention of this surgery before birth was to close her spine and prevent as much nerve damage as possible while also improving outlooks for her brain to prevent additional diagnoses of Hydrocephalus and Chiari Malformation Type 2. The surgery was very successful, however, by 4 months of age it was clear that there was more than just Spina Bifida going on for Emmy.

As a family we pursued answers to the developmental challenges Emmy was facing until we finally got a diagnosis in December 2020 when Emmy was 20 months old. Emmy has CASK Gene Mutation, an ultra-rare neurodegenerative mutation in the CASK gene location on the X-chromosome. We learned at this time that Emmy’s mutation was de novo, meaning it was a random mutation that just happened to occur for her, rather than having been inherited. There are currently about 210 people worldwide diagnosed with CASK and the level at which they are affected spans a huge range. Emmy seems to be particularly more affected than many others, currently still unable to sit, feed, speak or ambulate independently despite constant therapy at home and intensive weeks away from home that we have provided her over these 3 years. All of this therapy is incredibly helpful to her, but progress is very very slow. Despite all the appointments, therapies, and medical diagnoses that come along with Emmy’s disabilities she loves to meet new friends, listen to music, and laugh her days away!

The Exciting Opportunity:

Emmy has been invited to participate in an Intensive Therapy program with the Neuromotor Research Center at the Fralin Biomedical Research Institute at Virginia Tech. This is one of only a couple places in the world that is currently studying the CASK gene and working to find both preventative measures, and a cure. This therapy program takes place in a home setting for four hours per day over four weeks. We have met with a therapist from the program and they have deemed Emmy a good fit. These therapists work with kids similar to Emmy, and more specifically they’ve worked with other children with her exact diagnosis.

Other families with kids with CASK who have attended this exact program have told me things like “her skills were minimal at the time and she came back a different baby! She came back able to play much more…with age appropriate toys, her sitting was much better and she started crawling about four months after we got home!” Another family said that their daughter was working on “goals of communication, core strength and control, general control of movement, quadruped position, 4-point crawling, pulling to stand, cruising, and functional play.” That particular child achieved all of those things and more in her four week session.

While we recognize that Emmy may be more involved than some of the families who gave us the feedback above due to her multiple diagnoses, we believe we can achieve some of these things, too! Our only hope for Emmy is to be able to sit, play, and communicate her needs as independently as possible. If we can have her able to move about her space independently in any way, we will be overjoyed. We just want Emmy to have some independence and the ability to make decisions for herself and get what she wants.

The Big Ask:

This is where our big ask comes in. In order to attend the Intensive Therapy Program at VTC, we will need to pay entirely out of pocket. Emmy will have four hours of therapy, five days per week, for four weeks. This totals about 80 hours of therapy at a rate of $175 per hour. In addition, we will need to rent a place to stay in Virginia for our family of four, and possibly our two dogs. In all, we anticipate a total cost of roughly $16,000 for therapy and housing.

We know this is a big ask and we fully intend to fund this for Emmy as much as we can as a family. However, without insurance coverage as an option for this all too promising therapy, we are asking for your help to get our girl to Virginia next summer.

We are set to attend therapy July 10-August 4, 2023 so we have just over one year to raise these funds. If you feel so inclined to help, we would be most grateful. ❤