SATB2 Gene Trust UK

I would like to raise funds to help with the start up costs of a Not for Profit Organisation called SATB2 Gene Trust UK. The SATB2 Gene Trust UK was established to enhance the lives of those affected by SATB2-associated syndrome by providing emotional and educational support, and by raising awareness and supporting research. The board consists solely of parents of children diagnosed with SATB2 syndrome.  Their mission will be met by: ·  Raising awareness about the characteristics of SATB2-associated syndrome ·  Providing support to families ·  Supporting research in a wide range of issues related to SATB2-associated syndrome About SATB2 S      Severe speech and language delays A     Abnormalities of the Palate T     Teeth abnormalities B     Behavior issues with or without Bone or Brain anomalies 2     Onset before age 2 Individuals with SATB2-associated syndrome (2q33.1) are generally incredibly happy, with the most beautiful smiles. They have a kind and over friendly  personality which is often referred to as a happy disposition, this is a common trait among individuals with SATB2-associated syndrome.   SATB2-associated syndrome is a condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies). Individuals with SATB2-associated syndrome typically have delays of fine and gross motor skills such as rolling over, sitting, and walking. Many affected individuals have behavioral problems, including hyperactivity and aggression. Some exhibit autistic traits, such as repetitive movements. Sensory Processing Disorder and Dyspraxia can also be described. A happy or over friendly personality is also common among individuals with SATB2-associated syndrome. Less common neurological problems include feeding difficulties and weak muscle tone (hypotonia). About half of affected individuals have abnormalities in the structure of the brain. As children get older, bone related issues such as osteoporosis or scoliosis can be discovered. FUNDRAISING PURPOSE We have been working really hard on creating the SATB2 Gene Trust UK as a not for profit organisation and are hoping to launch it on social media in July 2020. As parents of children with a disability, juggling their complex needs along with work and the rest of the family can sometimes be very difficult but as SATB2 is such a newly diagnosed and rare condition, I wanted to do all I could to raise awareness and support other families who are going through the same issues as we are. Any funds raised will go towards: Technology (website, awareness banners and stands) Handouts Family conference days (premises hire) Raising awareness This is a photo from the Family conference in 2019  The family conferences are so important for meeting other families that are going through the same life journey, for sharing information, support and advice. My Story When Kai was born, they discovered he had a cleft palate which they corrected at 6 months of age. We were told this may set him back but as he got older, we noticed that he was not hitting any of his milestones and his behavior was very repetitive. Our specialists from the cleft team agreed this was something we needed to investigate and referred us for genetic testing on the DDD study. After two and a half years we finally received a letter saying that they had found something. We had an appointment with a geneticist who gave Kai the diagnosis of SATB2 syndrome and handed us an A4 leaflet. She explained that his condition was so newly diagnosed that no one really knew much about it apart from the fact that Kai would most probably never talk, he would have learning disabilities and possibly behavioral issues too. As far as she knew he was one of only five other known cases worldwide. As we walked out of the hospital, I made a promise to myself and Kai that I would do as much as I could to support him and help him achieve his potential, whatever that may be. The next few months were like being on a roller coaster. I felt incredibly grateful that I had a name, a reason and something I could use to help fight for extra help for Kai with. The hardest part was the realization that Kai may never talk. We may never hear him call us mum or dad or tell us he loves us. One of the biggest heart blows was finding out Kai will depend on us for all his care needs even into adulthood. Every parent thinks that their child will grow up, maybe go to college, get married and have children, having their own independence. Learning this would most likely never be an option was terrifying, although this just reinforced my original thoughts of trying to do the best I possibly could for him and made me more determined. I had to reach out to the other UK parents, we could learn so much from one another, surely, they would understand how I felt and what we were going through? Over the past four years I have been fortunate to have arranged three family gatherings and have met the most amazing parents. They have truly been an inspiration and have supported me on difficult days, given me advice on uncertain days and shared the joyful days. I have truly come to appreciate the smaller things, Kai has taught me determination, compassion, and kindness and now I cannot imagine my life any other way. With your help, together we can the provide the families with the much needed support they deserve - with help of the SATB2 Gene Trust UK