Byrds Fore A Cure-cast

Happy Summer, SMA community! In this episode I touch on MDA camp, SMA drama on Facebook, and air travel with a wheelchair. Also, a Spinraza update! (Spoiler: the twins still aren't approved for Spinraza.) Please like us on Facebook, and follow us on Twitter, Instagram, and LinkedIn!

We've had the last day of school here, so summer break has officially begun! The twins got their new wheelchairs just in time for summertime shenanigans, but the insurance approval process can be a long one. Commiserate with me on that today, plus it's time to start planning SMA Awareness Month activities for August and also stop parking in our handicap accessible parking spaces (again). Links mentioned in today's episode: SMA being reviewed for the Recommended Uniform Screening Panel Arizona Newborn Screening information: aznewborn.com(for other states, just google your state name and "newborn screening") SMA Awareness month ideas Handicap parking violator public shaming viral story + video

Last week I was one of ~50 chapter board members to attend the Patient Focused Drug Development meeting in Hyattsville, MD. Members of the SMA community spoke before members of the FDA about their journeys with SMA, or that of their child(ren). I have an update on that, as well as a short recap of a presentation given by Avexis and why adding SMA to the list of conditions for which newborns are screened is so important. Also, a world without typical SMA type 2's and a life of powered wheelchairs and breathing equipment? Yep, I think the time is near. Links mentioned in this episode: PFDD 4/18 Video Clips Avery's Bucket List and my blog post about it from 5/2012. Most recent study results from Avexis and their gene therapy clinical trials Cure SMA's Newborn Screening Coalition Cure SMA legislative advocacy priorities MDA's statement on adding SMA to newborn screening panels nationwide

Kate Mathany joins me today to share their experience with their seven-year old SMA type 1, Getty Storm. She's halfway through the "loading phase" (so she's had two of the first four doses), and it's been quite a journey just to get to this point! Read the family blog at gettyowl.org. Company info re: Spinraza here. Follow Byrds Fore A Cure on: Twitter Facebook Instagram LinkedIn And thanks for spreading the word about the 4th Annual Byrds Fore A Cure Golf Classic, in Phoenix on May 6, 2017! Proceeds benefit the Arizona Chapter of Cure SMA!

The Immortal Life of Henrietta Lacks is both a nonfiction book and the basis for an upcoming HBO movie starring Oprah Winfrey. I make a case for why everyone should know who Henrietta is, and urge you to read the book by Rebecca Skloot (it's $11 for Kindle, do it now!). It's for biotech nerds like me and for you, too. The 4th Annual Byrds Fore A Cure is upon us! Hosted at Stonecreek Golf Club in Phoenix on 5/6, we're accepting player registrations and business sponsors here, as well as accepting donations from non-golfers for our Byrds Fore Birdies putt-putt challenge next weekend here. All proceeds benefit the Arizona Chapter of Cure SMA, for which I serve as Vice President. Players: $160 per twosome Cart Flyer Sponsor: $250, includes your business info on all cart flyers Hole Sponsors: $500, includes foursome and tee box signage Happy Hour Sponsor: $750, includes foursome + keg for golfers Dinner Sponsor: $1,000, includes foursome, dining area banner/signage, speaking opportunity Follow Byrds For A Cure o

  Happy Rare Disease Day! (Though, how happy are we to be celebrating rare disease...?) Social media today is buzzing with #rarediseaseday, so check out the hashtag and be inspired by the tweets, blog posts, and moral support of our rare disease community. Also in this episode, I found a "SMA research update" I wrote in 2010 and find it interesting to make comparisons of the state of SMA research and the momentum our SMA community has now versus then. Also, I've been super interested in stem cell research for a long time, so there's some chatter about that, too. Links mentioned in this episode: Rare Disease Day Byrds Fore A Cure Sign up to play in Byrds Fore A Cure here.  Follow Byrds For A Cure on: Facebook Twitter LinkedInInstagram

The SMA community has had a full month to process the magnitude of FDA approval of the first treatment for SMA, Spinraza, and to learn more about the process of getting insurance approval and where to go locally to get it. The shininess of Spinraza is wearing off for me, a little, as far as it's potential to help non-newly diagnosed people with SMA. Time will tell, and the data from the next couple years will hopefully prove that I don't know what I'm talking about. Links mentioned in this podcast (links don't appear to be working in the Podcast player, so go Google!): Rare Disease Day 2/28International Day of Acceptance 1/203E Wheelchair Love merch store Spinraza.com Anthem Caps Coverage Of Biogen Spine Drug Despite Wide FDA Approval   Like us on Facebook. Follow us on Twitter, Instagram, and LinkedIn!            

The U.S. FDA approved nusinersen (now known as Spinraza) on December 23rd, 2016. The following week Biogen announced the cost of this first-ever therapy for SMA, and the SMA community went on to lose it's mind. I spend some time addressing this, plus a December update on the kiddos. Links mentioned in this episode: Kure for Kulas Ren Will Walk Arms for Asher Global Genes RAREcast - November 9, 2016 episode Follow Byrds For A Cure on: Facebook Twitter LinkedIn

Welcome back, and happy #GivingTuesday! Don't worry, I'm not asking you to give money. I have a tip or two for getting through cold and flu season, as well as some holiday gift suggestions for kiddos with neuromuscular disease or other special needs. SMA makes one's muscles weak, which can pose a challenge at the holidays when trying to come up with toy ideas for the kids (until you just give up and hand them an iPad), so I have a list of around a dozen options you may not have considered. If you have things to add to this list, email me: cassandra@byrdsforeacure.org We have a blog post which summarizes the holiday gift suggestions here! Follow us on Facebook, Twitter, Instagram, and now on LinkedIn, too!

The planets aligned and my friend Danielle and I finally had some time to talk shop and record our conversation for you! Danielle is an RN, a faithful and compassionate soul, and a funny lady. I look forward to having her on future episodes. Danielle mentions caring for her parents through pancreatic and prostate cancer, as well as caring for a child diagnosed with bipolar disorder. Should you want to contact her, or commiserate (?) with her about her precious Chicago Cubs, she can be found at @living2laff on the Twitter: https://twitter.com/living2laff Also in this episode, I mention a couple families I know of who use "a robot with an iPad and FaceTime" to send their kids to school. Here's what that's all about: https://www.washingtonpost.com/local/education/peytons-awesome-virtual-self-a-robot-that-allows-girl-with-cancer-to-attend-school/2015/11/28/ad481a00-9258-11e5-a2d6-f57908580b1f_story.html <--I can't find the news story on the SMA families I know of who also use this, but this show

Lorraine and I have collectively survived nearly two dozen hospital admissions, so today we expound upon the hospital stays our SMA kids have endured, sharing our best practices, must-do's, things to pack, and coping mechanisms to adopt while you're in there. While your special needs child gets better, you're learning to be a better advocate for them. Hint: Bring extra socks and extra patience. 

Sometimes it's all we parents can do to keep our heads above water and keep everyone alive. We can't always keep up with the latest and greatest in smartphone apps, so I made a short list of apps we can use to help make other parts of our lives easier. Evernote: https://evernote.com/ Scannable: https://evernote.com/products/scannable/ Scanner Pro: https://readdle.com/products/scannerpro IFTTT: https://ifttt.com/ This may be a frequent topic on this show, so if you have an app suggestion for a future episode, email me at cassandra@byrdsforeacure.org.   Give us a Like on Facebook! https://www.facebook.com/ByrdsForACure https://www.facebook.com/cureSMA Visit us at byrdsforeacure.org.  

ABC's Speechless debuted yesterday, so my friend Lorraine and I use it as the basis of a conversation around schools and our special needs children with SMA. The actor, Micah Fowler, has cerebral palsy and a fantastic sense of humor, based on what we saw last night! Visit us at byrdsforeacure.org. Give us a Facebook "Like" at Byrds For A Cure and Cure SMA Arizona Chapter. For tickets to the Cure SMA Evening of Hope Art Auction & Wine Tasting charity event in Scottsdale on October 1st, please visit events.curesma.org/2016azwine.

Spinal Muscular Atrophy (SMA) Awareness. Also, my kids rock.