Celebrating Dr. Katy Phelan and Sue Lomas! | |
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Cheers to 70 Years!
We are thrilled to invite you to join us in celebrating a momentous milestone: the 70th birthdays of two INCREDIBLE women who have made an indelible mark in the realm of medicine, patient advocacy, and our #PHamily. Dr. Katy Phelan, PhD, FACMG, one of the first publishers about a simple deletion on the long arm of Chromosome 22, and Sue Lomas, one of the visionary founders of the Phelan-McDermid Syndrome Foundation (PMSF) and Sammy's mom, are turning 70!
To honor their exceptional contributions and dedication to the Phelan-McDermid Syndrome Foundation community, we are hosting "Katy & Sue's 70th" Birthday Fundraiser. This event is not only a celebration of their significant birthdays but also an opportunity to support ongoing efforts to improve the lives of individuals and families affected by Phelan-McDermid syndrome.
Click here to read more.
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Save the Date for Phelan-McDermid Syndrome Awareness Day!
Mark your calendars! Join us on October 22, 2023, as we come together to raise awareness of Phelan-McDermid syndrome.
Save the date and stay tuned for exciting updates on how you can make a difference on this special day. #PMSAD
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The New ICD-10 for Phelan-McDermid Syndrome Is Live in the U.S.!
The new ICD-10 code for Phelan-McDermid syndrome is live in U.S. healthcare systems as of October 1, 2023! We need your help to spread the word! Ask your clinicians (both primary care and specialists) to use code Q93.52 at any medical encounter with someone with Phelan-McDermid syndrome. Additional codes for specific symptoms (such as epilepsy or GI dysfunction) should also be used when appropriate. Ask your clinicians to inform their teams and their colleagues.
Remember: this only applies to the U.S. as of now. In the future, we hope there will be a worldwide code for Phelan-McDermid syndrome. To learn more about ICD codes and this important accomplishment, click here.
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2024 Family Conference Survey
Calling all Phelan-McDermid syndrome families! The 2024 Phelan-McDermid Syndrome Foundation International Conference is on the horizon, and we want to ensure it meets your needs. We're launching a poll to gather your preferences on areas you'd like to see covered at the conference.
Please fill out the poll and rank the topics that interest you the most. Your valuable input will shape the speaker sessions at the conference. Thank you for being an essential part of our community. Your insights will make a meaningful difference in making this conference informative and empowering for all.
Click here to fill out the poll.
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Regional REP Program
Did you know? REP stands for Resources, Engagement, and Peer Support. We rely on our volunteer REPs to serve as a region-specific resource and peer mentor to our families. We are proud of our extensive network of volunteer REPs around the world, which contributes to PMSF's mission pillar of supporting and connecting families.
In the US, we currently have PMSF members in 48 states, ranging from more than 150 families in California to three families in Montana. Every state has an official contact with PMSF, whether it is a state-specific REP, a regional REP, or our Family Support Specialist. 27 states have a state-specific volunteer REP at this time. Six states have co-REPs, where two REPs support the state together. You can find your REP here.
We have openings for US REPs in a number of states and we are most urgently seeking REPs in California and Illinois. We strive to create a REP network that reflects the diversity of our community.
We are actively seeking applicants from underrepresented communities and encourage you to send your letter of interest to carla@pmsf.org.
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Save the Date: Giving 22uesday Is November 28th!
GivingTuesday is a Global Day of Generosity that will take place on November 28, 2023.
You can help us turn #GivingTuesday into #Giving22uesday!
Be on the lookout for more information to come on how you can participate in Giving 22uesday.
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Phelan McDermid Syndrome & Autism: What You Need to Know
Have you seen Dr. Kate Still's latest blog post? She delves into the similarities and differences between Phelan-McDermid syndrome and autism, covering common features, genetic links, diagnosis, treatment and management.
It's definitely worth a read—click here to check it out!
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First 100 Days Updates
Meet Alex and Betsy Cohick! The Cohicks are new PMSF members from Pennsylvania who joined our membership back in June. Alex was recently diagnosed with Phelan-McDermid syndrome at age 33. Since then, Betsy has participated in our “First 100 Days” welcome program for new members.
We’re celebrating today because the Cohick family is the ONE HUNDREDTH family to have had the opportunity to participate in our “First 100 Days” program!
Read more here.
Email carla@pmsf.org for more information about the "First 100 Days" or any of our Family Support programs.
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Diving into the Phelan-McDermid Syndrome Clinical Care Guidelines | Gastroenterology Edition
Last month, we dove into the European and International/U.S. Clinical Care Guidelines providing some of the important information that you need to know on epilepsy and EEG abnormalities. These guidelines, which are the product of years of collaboration among experts from various specialties, are relevant to anyone affected by Phelan-McDermid syndrome. Our aim is to provide you with a better understanding of Phelan-McDermid syndrome.
This month, we are focusing on gastroenterology. To learn more, click here.
To access the full set of guidelines, click here.
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New Podcast Episode!
Join Dr. Kate on this month's episode of Convos with Dr. Kate, where she is accompanied by Dr. Siddharth Srivastava from Boston Children's Hospital. They discuss Dr. Srivastava's career, particularly his interest in rare diseases and Phelan-McDermid syndrome. They also provide insights into new work he is doing in neuropsychiatric illness, and the details of what a family visit to the Natural History Study entails. Don't miss out on this informative and enjoyable episode, which aired on September 22.
You can find the episode on any podcast platform and don't forget to follow Convos with Dr. Kate for future episodes.
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Current Open Research Studies
We currently have a range of ongoing studies covering topics like sleep, attention, and quality of life.
These studies focus on individuals with Phelan-McDermid and offer both virtual and in-person participation options.
To learn more about the most up-to-date information on each study and how to enroll, click here.
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Pennsylvania State Gathering!
Thank you to Pennsylvania REP Sarah Jacobson for putting together the first-ever Pennsylvania state gathering! Seven Pennsylvania families braved the weather on September 23 to meet at Everyone's Playground in Selinsgrove, Pennsylvania. Everyone’s Playground promotes play in an all-inclusive, barrier-free environment. Thanks to Tropical Storm Ophelia, it was 56 degrees and rainy, but everyone still had a wonderful time. The kids were wet but laughing and the parents were able to connect and share experiences.
30 US states have had annual gatherings in the last year, with more coming up soon! Please reach out to your regional REP for information about what is happening where you live. If you are not sure how to contact your REP, please email carla@pmsf.org.
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Thank You to Our PMSF Grandparents!
We wanted to say a big "Thank You" to all the grandparents who make a difference in the lives of those with Phelan-McDermid syndrome. We recently sent out window cling stickers as tokens of our appreciation. We hope these stickers not only serve as a reminder of your invaluable support but also bring a smile to your faces as you proudly display them. If you didn’t receive one, please join the general membership and be sure to let us know you are a grandparent on the form.
Your support means the world to us, and we look forward to continuing this journey together as we strive to improve the lives of individuals with Phelan-McDermid syndrome!
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On the PMSF Website...
NEW Conference Funding Resource Guide. Attending a conference requires a lot of planning and funds for families. Past attendees have told us that being at the conference is “life changing”. We hope you find resources to help you with your trip. Click this link or search for "conference funding resource guide" in the website spyglass to find the document.
Use the search feature on the PMSF website to access resources. You may use search terms using the spyglass search feature on the website to get access to resources. Try searching on "consensus" or "gastrointestinal"
Use the Resource Library to search documents by topic, tags or title.Try "neurology" or "sleep".
Help us improve the search feature and library. Let us know what resources you are looking for on the website by sending email to Diane at diane@pmsf.org
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Stay Connected
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