Josie's "Gene" Research

Hi Friends and Family!

Our family has been a little silent following the birth of our daughter Josie, and I wanted to come forward and share a little bit of what our lives have been like since then. Besides the pure joy she gives us each and every day we have struggled in her first year and here’s why.

Josie was diagnosed with a genetic disorder, Cri du Chat syndrome. It is a severe, rare pediatric neuro-developmental syndrome that is caused by a deletion of genes on the 5th chromosome. It impacts 1 in 50,000 children annually (for a quick scale of comparison there are roughly 1 in every 660 births affected by down syndrome). Some things we were told we could expect are intellectual disability and delayed development, small head size (microcephaly), slow weight gain (failure to thrive- most children being tube fed), weak muscle tone (hypotonia) in infancy, possible seizures, and Gastrointestinal problems. This just only scratches the surface.

After being diagnosed at 3 months old, she immediately started intensive therapy. Josie has a spectacular team, of an Occupational Therapist, a Feeding and Speech Therapist, a Physical Therapist, an at-home nurse and a home health aide as well. This is totaling upwards of 10 hours each week of assistance and therapy, and she will likely need to continue these types of services and therapies her whole life. Not to mention the countless hours my husband and I put in with her on our own.

Besides trying to ensure Josie develops the best she possibly can, we also needed to put together a team of doctors that were knowledgeable enough about her condition to provide her with the best possible treatment for her health conditions. Because of how rare CDC is, this proves extremely difficult and we have found that a lot of times we are educating her providers with information and research on CDC!

However, upon our research, we found something amazing! There is a foundation dedicated to clinical research in gene therapy specifically that of Cri Du Chat.

Cri Du Chat Research Foundation:

“The mission of the Cri du Chat Research Foundation is to drive research forward from pre-clinical knowledge to clinical trials, which will greatly improve the lives of those living with 5pminus syndrome. The Foundation and supporting community are committed to achieving this goal by raising the necessary funds as well as coordinating with researchers to bring practical treatment into current medical practice.

It is a very exciting time in gene therapy! Gene therapy has now made it possible to treat and

cure genetic diseases. The technology is truly cutting edge and the progress has been incredible.

Scientists are working to develop treatments and cures for neuro-developmental diseases, like Josie’s.

Unfortunately, funding for rare disease research is limited and often family driven. To meet this

goal, we are asking for a cash donation and any exciting auction items from local businesses and individuals, Join our community today and help us raise the bar for children with this rare

underserved, condition. "

[email redacted] - for donations that arent of cash value.

We would like to host a large charity event from a portion of these proceeds and are certainly open to accepting any donations from local businesses. This could be space, food, auction items, employees' time, etc. Please reach out with questions and or offers.

Link to Foundations page for CDC