Podcasts about angelmans

Here are just a few athletic accomplishments from today's guest Deanna McCurdy: Six national championships, Four Pan-Am championships, 5th overall at ITU Cross Worlds, she's finished as the top American female and 4th overall twice at the XTERRA World Championships. USA Triathlon awarded her Off-road Triathlete of the Year honors in 2017, 2018, and 2021.  In 2019, she competed as a Pro (at age 45), placing 2nd at XTERRA Quebec and winning XTERRA Fruita. WHEW...Even if you don't know what any of those races are, you certainly recognize a powerhouse when you see and hear those results. BUT, what makes Deanna's success story so incredible is that she didn't start doing triathlons until 2009 after she had her second daughter. Yes, Deanna is also currently raising two teenage daughters (which is an “I Could Never Do That” unto itself) — one of which was diagnosed with Angelman's Syndrome at just 16 months. Life can change in an instant. Angelman syndrome (AS) is a rare neurogenetic disorder that affects approximately one in 15,000 people – about 500,000 individuals worldwide. Symptoms include, but are not limited to: delayed developmental milestones; gross and fine motor impairment; difficulty with feeding and swallowing; issues; loss of functional speech and epilepsy. As you'll hear today, her daughter Hayden is one of the main reasons she races and trains —all in an effort to raise awareness and funds for a cure for this rare disorder. In fact, her most recent endeavor was truly epic — It was the Breck Epic, a six-day mountain bike race in the Breckenridge mountains. She and her partner crushed the race, but her fundraising goals continue and today, we talk about her athletic journey, and also the joy, difficulty, reality, and gift of raising a child with Angelman's Syndrome. She speaks beautifully and candidly about this privilege of giving her baby angel the wings to fly.  Episode Resources: Deanna's "Epic Climb for an Epic Cure" Fundraising Page - https://cureangelman.org/deanna-mccurdys-epic-climb-for-an-epic-cure  To learn more about FAST Athletes, their mission and inspiring stories, check out our FAST Athletes page - https://cureangelman.org/fast-athletes  Deanna's Team USA Blog Support the Podcast through BuyMeACoffee.com -  "I Could Never Do That" Website - https://www.podpage.com/icouldneverdothat/  "I Could Never Do That" Instagram - @icouldneverdothat https://www.buymeacoffee.com/CarrieBarrett  Theme Music: Your Love by Atch -License: Creative Commons License - Attribution 3.0 Unported (CC BY 3.0)    

Let's catch the Genetic Therapy Tsunami for SYNGAP1! Episode 40 of #Syngap10 - December 17, 2021 - Dennis' tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate - https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/ - https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf - https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1 - Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1? https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics --- Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message

Episode 40 of #Syngap10 - December 17, 2021   - Dennis' tweet: https://twitter.com/LalDennis/status/1469502987173310466  - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150!  - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure   - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate      -https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/     -https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf     -https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1     -Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a  #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics

Dr. Allyson Berent speaks with us about her work to find a cure for her daughter’s rare disease.

I det sjunde avsnittet för säsongen av Lystrapodden möter vi Anders Hansson. Anders är pappa till två pojkar med Angelmans syndrom och det är om livet med dem som han skrivit två böcker och även föreläser. Vi pratar om hur man håller ihop livet, äktenskapet och föräldraskapet, om hur han fick Centerpartiets stämma att svänga i LSS-frågan och om hans bästa idrottsminne som journalist.

The weather was at its best as the town along with holiday makers turned out in force to support the annual fundraiser. Steel Appeal played on the beach as families enjoyed picnics and watched the action in a Caribbean atmosphere This year’s event saw a footfall of over a thousand spectators and over 300 paddlers of all ages and abilities taking part in the 200m, 1km fun paddle and the1km relays, to do their bit to raise money for some of the 20 charities now supported by the Joe Way appeal. The sunset sessions kicked off with Ben Sutcliff playing on the harbour stage, followed by The Strawdogs and then finishing in the rowing club with Jethro Baines which was a great show case for the best of Cornish music. Matt Way said “five years ago we had no idea how we would cope with the loss of Joe. However in the middle of the beach watching the hundreds of paddlers, listening to the music, watching our volunteers and seeing the thousand plus spectators it became clear to me that you learn to live with the loss with the help of others and we are extremely lucky to have so much support”.

Singer James Morrinson supports Joe's appeal

Paddle for life video 2011

This summer Hendra also has Europe’s only mobile Flowrider, located on the park for the next 6 weeks. It is an exhilarating water-based ride suitable for thrill-seekers of all ages, which means we will be bringing some great waves to you over the Boardmaster’s event and all summer! The Flowrider as well as surf lessons at the UK and European champion’s Skindog surf school are discounted for Hendra guests or you can try both for just £35. You can enjoy this unique and fun experience from as young as 6 years old. Ben Skinner, of Skindog Surf School, said: “Hendra’s surf connection is really great for families. I know how important a good accommodation experience needs to be when you’re on holiday with your family, so this partnership with Hendra is ideal for people to stay at a high end holiday park whilst enjoying the relaxed feel of beach life. The Flowrider is another reason to come to Hendra; I’ve tried out the ride and it is a lot of fun and suits kids and adults of all abilities.”

Newquay Mayor Andy Hannan linked up with local business Wavecrest scuba to see Newquay from a different perspective. Wavecrest Scuba is a PADI 5 star Instructor Development Dive company based just a few miles from Newquay, Cornwall's surf capital. Wavecrest offer a complete range of courses from trying out the sport in heated pools to the highest diving instructor levels. They offer a free transport service to dive sites and lunch so the whole family or groups can be catered for. They also operate a dive shop and hire business all run from the school which is based just outside of Newquay. Owner Diving instructor Mark Rayner and his team put the Mayor and his wife, Barbara through some intense pool training ready to then get them out in the open sea off the headland all in one day. Andy Hannan said ‘this was the first time Babs and I had ever tried scuba diving and I was a bit apprehensive at first but Mark and his team really put me at ease. I was amazed at how much gear you have to wear but once we got in the water the fun really started. The sea was really clear and I managed to see a few fish although I missed catching a glimpse of a spider crab that passed below. This is certainly something worth trying out if you enjoy swimming and being in the sea. Andy Hannan was joined by Paddle for life organiser Matt Way and Dean Woods who also made a trip to the sea bed with Joe’s banner which has been all over the world. Matt Way Joe’s Dad said “The training was really good, I’ve been trying to make the time to do this for years. This is the sort of experience locals should try its not just for holiday makers. We would like to thank Mark and his team who where also the first people to take a banner under water three years ago when we started the idea”.

This year on the 7th May, to mark the passing of their son, Joe's Dad will be jumping out of a plane at 10,000ft to raise money for the Precious Lives Appeal, or one of the many charites listed on our donate page. If you would like to donate and help build Cornwall's first Hospice for children or to donate to one of the other charities we support click DONATE NOW

A green Western Greyhound double decker bus will advertise the Joe Way appeal and will be driving around its routes in Cornwall, bringing the Cornish toddlers story to new people. Western Greyhound is a Newquay-based family-run business that has been operating since 1998. It now runs an extensive bus network throughout Cornwall and into Devon, offering services which frequently connect together to provide excellent journey opportunities in the region.

Lots of Interviews with Dean Woods at this years 2010 Joe Way Paddle for Life Part 1

2010 Paddle for life PODCAST Part 2 Interviews with Paddlers

Live interview with BBC radio cornwall about the paddle.

PODCAST with Joe's DAD about the Joe Way paddle board

Matt Way (Joe's Dad), Anna Heacock, Julie Richards and Vashti Barnicot all jumped for Joe to raise money for the Precious Lives Appeal in memory of Cornish toddler. The Cornish Parachute club had another 25 jumpers also jumping for Precious Lives over the weekend with conditions varied the team where on their toes to make sure the best was made of every weather window. Team Joe raised an overall amount of over £1500 taking the total over £51,000.00 in just over twelve months since the website started after little Joe Way died. Claire Way said “The journey we have been on since the start of Joe’s website has been amazing and the fundraising has been running at £1000 per week for most of the last twelve months, he has inspired so many new people” Matt Way jumped with tandem instructor Dr Ryan Jackson who also treated Joe during his long stays at The Royal Cornwall Hospital and knows the Way family, they where filmed by Ben Wood as the 10,000 feet jumped took place over the stunning Cornish coast line of Perranporth and St Agnes. Joes banner was worn by Matt however its remand with Ben as he still has some plans for it which will be extreme with a capital E. Matt said "It was the most amazing experience and as Ryan said before we exited the plane “This ones for Joe” I highly recommend it and the team where friendly and completely professional in every aspect of the experience” When Matt was asked if he would do it again he answered “I couldn’t not experience that rush again I will absolutely have to return” If you have a crazy way to get Joe’s web address out there or can take his banner abroad then email info@joeway.co.uk. To see why Cornwall needs a children’s hospice then look on Joe’s website www.joeway.co.uk

The paddle for life started after Lifeguards from Fistral beach held a “Joe Way memorial paddle” to raise money for the Precious Lives Appeal to build a children’s hospice in Cornwall in memory of Newquay toddler Joe Way. The great thing about the Paddle for Life is anyone can set up a paddle

Matt was invited by the Precious Lives appeal and BBC radio Cornwall to speak about Joe's inspirational story at the christmas recording infront over 1000 people.

Listen to the interview actor Ben Richards gave on Pirate FM, where he talks about learning to surf with Ben Skinner, the Joe Way Story and the Paddle for Life site.

Joe is the inspirational little boy who touched people's lives around the country and beyond. His story of hope and fighting against all the odds with a cheeky smile has made what could have been the worse of times the best of times. His story continues to inspire individuals and business to do something positive and to make a difference.