Author name: tbrsadm

Katherine McMahon was a founding board member of The Tatton Brown Rahman Syndrome Community. She followed the stories of each person affected by TBRS like they were her own family. She cheered for our accomplishments and cried with us during difficult times. She traveled all the way to England for the first TBRS Conference at The Child Growth Foundation Convention, attended the TBRS Community Conference in the USA, and made time for every other event and fundraiser. Along with her support, she brought her laugh and upbeat energy, which were contagious.

Kathy lived her life as a fierce advocate for people with disabilities. She always chose their best interests above all else. She was never afraid to speak up in order to make things right for someone at a disadvantage. Kathy was known, on several occasions, to fill an empty refrigerator with food and to gather furniture to fill people’s homes if they were in need. She showed up to visit and help if someone was feeling down or ill. She assembled the troops on many occasions, to make sure there were gifts and food for those in need during the holiday season. To know Kathy was to know kindness and love. Kathy was taken from us by cancer on September 13, 2019, the day after her 55th birthday.

The TBRS Community will keep Kathy’s spirit alive. We ask for nominations from our community to honor a person who embodies Kathy’s kindness, generosity, and “can do” attitude. This person may have quietly offered their assistance to someone in need, organized a meaningful event, completed a service project, advocated strongly on someone’s behalf, committed an act of bravery, an act of kindness, etc.

To nominate someone, please send a short explanation (3 paragraphs or less) about who you are nominating and why to: [email protected] or mail to TBRS Community, 122 Hunns Lake Road, Stanfordville, NY 12581

Nominations are due by 9/1/2020.

Winner will be announced in November. The recipient will be honored with a small gift and lots of appreciation.

We are excited to announce that The Tatton Brown Rahman Syndrome Community has been awarded the NORD COVID-19 Rapid Response Seed Grant. The funding will be used to coordinate our virtual TBRS Community Collaborative Research Network Conference. Our patient organization will collaborate with doctors and researchers from around the world to prioritize research questions and work toward developing treatment for TBRS. Thank you #NORD, for supporting our mission! Read more about it:

NORD Awards COVID-19 Rapid Response Seed Grants to Rare Disease Patient Organizations Impacted by the Pandemic

Dr. Ayala Tovy, a researcher at Baylor College of Medicine and a medical advisory board member of The TBRS Community, and her colleagues have described an individual who has what’s known as DNMT3A mosaicism. This means that the person has one DNMT3A sequence in some cells and another DNMT3A variant sequence in other cells, since he was an embryo. One of the sequences represents a healthy gene, while the other causes TBRS if present in every cell. Because the man’s sperm is mosaic—that is, some cells have the healthy sequence and some have the variant sequence—four of his children have TBRS and 10 of his children do not.

Dr. Tovy’s group found that the TBRS-related variant was present in every sample taken of the blood, but only rarely evident in other tissue types. In other tissues, the healthy sequence was predominant. This might mean that the TBRS variant has a particular advantage in the blood, a concern given that DNMT3A variants are common in the white blood cells of patients with leukemia (these patients are not born with the variant, but their cells later pick it up, which drives the development of cancer). The mosaic individual does not have a history of leukemia, which indicates that DNMT3A variants in the blood are not a guarantee for developing the cancer.

Read their study here: https://pubmed.ncbi.nlm.nih.gov/32673568/

The British Society for Genetic Medicine and the Clinical Genetics Society have developed an online tool to help determine the risks of COVID-19 for adults with rare diseases. The survey includes 17 questions, and at the end individuals will be placed in one of three risk groups.

The assessment tool should not be used to replace the guidance of the person’s healthcare providers.

The British Society of Genetic Medicine also has information for individuals with rare diseases and their caregivers to understand the risks of COVID-19, what precautions to take, and what to do if someone develops symptoms.

Click here to read more advice from the Society and here to take the risk assessment.