October 2018 SAS Newsletter

 
 
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New satb2 dental research

New SATB2 Dental Research published in Clinical Oral Investigations. This paper reviews the dental findings from the first SATB2-associated syndrome clinic that took place in 2017. Thank you to the amazing team of doctors at Arkansas Children’s Hospital for their tireless efforts to learn more about SATB2-associated syndrome and provide families with resources to share with other SATB2 providers!

 
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satb2 information sheets

We are excited to share these official information sheets about SATB2-associated syndrome which have been translated into additional languages. Now you can download both the “Patient and Families” and the “Clinicians and Physicians” versions in a total of 15 languages! Be sure to let us know who you’ve shared these with in the medical community by filling out the form at the bottom of the information sheet web page.

 
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UK SATB2 Family Conference

The 11th February 2018 was the second occurrence of our now annual SATB2 UK Family Conference. This year’s gathering was again hosted by the Family United Network (FUN) in Luton who provide facilities for special needs families which enable them to come together in a safe and stimulating environment. FUN has a range of facilities that are all suitable for people with complex needs in an open and welcoming setting so that siblings and young carers can also join in and are able to benefit from quality time as a family.

Thanks to SATB2 awareness increasing so much over the last year, this year we were joined by a number of medical professionals, ‘Healthcare at Home’ and ‘Further Investigate Neurological Disorders’ (FIND) who all attended to offer their advice and support.

Dr. Meena Balasubramanian attended for the second year in a row and is now well established as the lead geneticist in the UK as she also hosts an annual SATB2 clinic at Sheffield Children’s Hospital. As well as offering advice to families on the day, she also advised FIND on specific content for their future questionnaires to gather SATB2 information on behavioral issues. FIND offered individual clinics on the day which we were very lucky to benefit from as this was a new format for them; usually only offering online support. FIND is conducting research on the behavioral phenotype SATB2 and the team involved with us have previously worked at the Cerebra Centre for Neurodevelopmental Disorders and have experience in describing and understanding behavior in rare genetic syndromes.

We were also very fortunate to gain the sponsorship of Healthcare at Home.  Their recognition of the SATB2 UK Family Conference has helped establish a long-term partnership. We were honored to meet their representative Suzanne Pemberton on the day.

A total of 14 families attended, including parents from France and the Netherlands. SATB2 children from age one right up to the age of 27 came together which gave invaluable insight into the development challenges and opportunities that may lie ahead.

Everybody had a truly wonderful time; seeing our children socializing together, having fun and making lifelong friendships was extremely special. It was also really inspiring to meet so many families in person who have been so supportive on our Facebook group. I know this conference will only grow and strengthen our SATB2 network even further. 

 Submitted by Maria Walters, UK SATB2 mum

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sas family feature - gunner, age 7, uSA

Gunner was a total surprise. I didn’t know I was pregnant with him until 20 weeks. My first pregnancy and I’m already halfway through it! When Gunner was born he was a gift I never knew I wanted. He was the happiest baby. He had a hard time eating and gaining weight. He also never cried or babbled. The doctors didn’t seem concerned at that time saying “he is just delayed, it will come”. When his first birthday came around and still no noise, we started therapy. We were told he had childhood apraxia of speech and with hard work, he would get there. As a mother you want the best for your children so we kept every appointment and worked at home with him. Noticing that he was still falling behind his peers in almost every aspect of life was hard. That’s when we went a saw a geneticist and received the SATB2-associated syndrome diagnosis at age 5. Our geneticist had no information on SATB2 and said it was extremely rare with under 100 diagnosed at the time.

I decided that day that we won’t let this define who Gunner is. Fast forward to today, Gunner is still a happy, compassionate boy. He still has trouble communicating but he can speak full sentences and the people closest to him can understand.  He has worked so hard and has come so far. We also found a second family with our SATB2 community that grows more every day. I can’t wait to see what Gunner brings to life and how far he will go. It will be hard and sometimes.  He will get knocked down, but we know we have such support in both our families.

Would you like to contribute to the SAS newsletter or have story ideas? We’re always looking for extra hands to help put together useful information to share with our community. Please send an email to allison@satb2gene.org to find out how you can help today!