Join Jack October 3rd - 4th for KATwalk 2020!
This virtual event supports the KAT6A/B Foundation, which is a charity near and dear to my heart. 

As most of you know, Jack was diagnosed with KAT6B genetic disorder last October.  KAT6B disorders take on many different forms, and with it comes several physical and mental anamolies.  There are two types of KAT6B disorder, Genitopetellar Syndrome (GPS) and Say-Barber-Biesecker-Young-Simpsone-Syndrome (SBBYS).  Jack's complexities align with the GPS variant.  GPS is a skeletal dysplasia characterized by hypoplastic or absent patella, flexion, controntracutres of the hips and knees, and agenesis of the corpus callosum.  This explains Jack's physical condition and why he isn't able to walk and why he has had so many leg complications.  Additionally, KAT6B can effect vision, swallowing difficulties, respiratory, the thyroid, and speech.  This explains Jack's visual difficulties, the alignment of his eyes, the fact that he is 100% gtube fed and cannot swallow food or water, the fact that he had a trachesotomy for the first 2 years of his life, and that he continues to be non-verbal.  It also causes a wide range of intellectual disabilities and global developmental delays.

Admist all these challenges and obstacles that Jack and we will have to continue to overcome, Jack is the happiest, sweetest, most determined, and funniest 4 year old I have ever met.  I have spoken with many other families, and this seems to be true amongst all children diagnosed with KAT6B; the sweetness gene was not left behind!

I hope this event will be wildly successful and it will bring about more awareness and inclusion in the world, and raise funds to support additional research so we can understand even more about this rare genetic disorder.  You can donate, buy a t-shirt, walk around on October 3-4 and share Jack's story with anyone you know or see.  Please even if you don't donate or participate, the greatest contribution is the dialogue you can have with your children about Jack.

How can you support this event?
Donate!
Your donation goes directly to the KAT6A/B Foundation, a 501(c)(3) organization supporting families and funding efforts to identify therapies for the KAT6A/B Disorder. The primary uses of the Foundation's funding are (1) bringing families and researchers together at the annual KAT6A/B clinic at Johns Hopkins University, (2) sustaining and expanding the patient registry database to support potential drug trials, (3) funding preliminary research into the molecular affects of the KAT6A/Band KAT6B genetic mutations, and (4) funding the Empowered grants that provide assistive equipment and technology to our families.
Buy a t-shirt!
Wear your tshirt while you walk to raise awareness for your favorite individual diagnosed with a KAT6A/B disorder. Purchase a tshirt here.  https://www.customink.com/fundraising/katwalk-2020 **T-shirt orders are due by September 14th in order to arrive in time for the event.
Share this fundraising page with your friends and family!

Thank you!

The Shugrues