First Data Available From Myhre Syndrome Patient Registry

Friday March 25, 2022

First Data From Myhre Syndrome Registry

Today we have published the first set of data from the Myhre Syndrome Patient Registry. To date, 87 participants have filled out the questionnaire providing a medical history for themselves or on behalf of someone with Myhre.

In the data you will see basic demographics, as well as information on pulmonary, cardiovascular, hearing, and skeletal features of Myhre syndrome. These were areas that the Myhre community indicated as their top priority when it came to knowledge sharing, but the registry goes far beyond these areas in order to collect a comprehensive data set.

This information is a great resource for the Myhre community but also for medical, pharma and research organizations. Each year we will analyze more findings and provide updates on the developments we are seeing within the Myhre community.

If you’re already enrolled don’t forget to login each year and update us on any new information. When you choose to participate you can also choose who gets to see and use the information you provide. Your privacy is important to the Myhre Syndrome Foundation. As always, please contact us with any questions or concerns about participating at reseach@myhresyndrome.org and don’t let language be a barrier. We can help!

VIEW THE FULL PRESENTATION HERE

CLICK HERE TO JOIN THE REGISTRY

Volunteers Needed - Marketing, Fundraising & Finance

Do you have a few hours a month to help us with our marketing & social media, fundraising or finance? We’ve completed our planning phase and are hard at work with our ambitious goals, but we need your help.

- Do you enjoy writing articles, working on marketing campaigns, and engaging audiences on social media?
- Do you enjoy networking, creating ideas for fundraising and motivating others?
- Do you have bookkeeping or accountancy qualifications and can help us with our financial planning? (expertise in the US tax system preferred)

Is that a yes? If so, please get in touch with iwhite@myhresyndrome.org and you’ll be joining a team of passionate people who are working hard for the Myhre community. No previous experience in non-profits required and we welcome volunteers from across the world.

Patient Advocacy - A New Committee

In January we updated you on our strategic planning as we set out our goals for the coming years. One of the exciting new areas of focus is the formation of a dedicated Patient Advocacy committee. Supporting the Myhre community has always been fundamental to what we do, but this new committee will accelerate the many ideas and plans to help make the lives of those living with Myhre easier. If you have any questions or ideas for the committee, please email pschultz@myhresyndrome.org

Immunity in Myhre Research - Can you help?

A common question is whether people with Myhre syndrome have an associated immunity problem. We know many get colds or ear infections, but at present, a consistent immune defect has not been discovered. The National Institutes of Health (NIH) is conducting a study to understand how the immune system is affected in patients with Myhre syndrome and they only need 15 more patient volunteers.

Visiting the NIH isn’t required if you live outside of the US or if travel is not an option, the doctors can work with your local teams and review medical history and records remotely. If you are interested in finding out more, please contact Dr Stella Hartono, stella.hartono@nih.gov

Your or your child’s involvement in this study will mean the research can be completed and answers can be given on Myhre syndrome and immunity. Research benefits the entire Myhre community so a heartfelt thank you from us all.

Jason & Lee - Marathoning for Myhre!

A few weeks ago, Jason & Lee Becknell took part in the Myrtle half-marathon to raise funds for Myhre syndrome and their son Alex who was diagnosed nearly three years ago.

Lee is no stranger to marathon running but it was Jason’s first half-marathon, and they raised a huge $6732! Thank you so much Jason & Lee for your continued support of MSF. It's not too late to donate and say well done, just click below.

JASON & LEE’S FUNDRAISER

Or if Jason & Lee have inspired you, why not create your own fundraiser for Myhre? Our fundraising platform is ready to go, with information about Myhre already populated, you just need to put a few details of your own, a picture and then send out the link.

I WANT TO FUNDRAISE