Strategic Planning, New Research & Rare Disease Day

Wednesday January 19, 2022

Looking ahead - 2022 and beyond

January is often the month for looking ahead and at MSF we’ve been doing just that as we develop our three-year plan. Since MSF began in 2019, so much has been achieved but we’re now ready to take the next step.

From patient advocacy and grant opportunities through to a sustainable fundraising plan and widening our audience base - the ideas are abundant and we’re working through the details with the board this month. We’ll keep you updated and we’re looking forward to your feedback and support.

Want to get your hands on an MSF pin?

Monthly donations make such a big difference to small charities like MSF, as they give us the opportunity to plan our budgets with greater confidence. Could you swap out a takeaway coffee once a week and instead pledge that $20 a month to help us raise essential funds?

As a small thank you, you’ll then be sent an MSF lapel pin, that our regular donors are already wearing with pride.

YES I CAN HELP

New Research - Tetralogy of Fallot

A new research paper has just been released, authored by a team of experts that includes members of our Professional Advisory Board (PAB). Tetralogy of Fallot defects cause oxygen-poor blood to flow out of the heart and into the rest of the body. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, the research describes five additional individuals with Myhre syndrome and classic ToF, ToF with pulmonary atresia and multiple aorto-pulmonary collaterals, and ToF with absent pulmonary valve.

You can read the full extract on our website but please note not all research is available without a subscription fee, this applies worldwide, including USA. Please alert your medical team to the release of the research so we can increase awareness and understanding of Myhre Syndrome.

READ THE EXTRACT HERE

Rare Disease Day - Share Your Colours

On 28 February it’s Rare Disease Day, a global movement that is raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.

This year the campaign is called Share Your Colours, expressing yourself by telling your rare story through words, art, photography, film – the options are endless. Look out for more details on our website and social media on how the Myhre community can get involved.