Simon Wheatcroft: The Power of Pushing Through

Simon Wheatcroft held his audience spellbound at the Global Genes conference in California where he detailed his journey from losing his sight as a teen-ager due to retinitis pigmentosa to competing in ultramarathons and overcoming many obstacles in between.

Simon recounted his amazing life experience at the Hotel Irvine in Huntington Beach, Calif., during the 6th Annual Global Genes RARE Patient Advocacy Summit on Sept. 14 and 15. More than 700 patients, caregivers, advocates and rare disease stakeholders gathered to share, learn and connect.

Simon, the conference’s opening keynote speaker, shared his journey of adapting technology, specifically on his smartphone, to achieve what seemed like impossible personal goals of learning to run solo outdoors. In his message of “Adaptability in the Face of Adversity,” Simon said he lost his sight at 17 due to retinitis pigmentosa, and seven months later, he ran his first ever race – a 100-mile road race.

Ultramarathons – races more than the traditional 26.2-mile marathon – present extreme physical and mental challenges for anyone, but with his loss of vision, Simon faces more complex obstacles. He trains with guide runners and uses memorization and technology.

To run solo, Simon forms a map of the area by using the smartphone app, RunKeeper. He memorizes the

Simon Wheatcroft running
Simon Wheatcroft held his audience spellbound at the Global Genes conference in California where he detailed his journey from losing his sight as a teen-ager to competing in ultramarathons and overcoming many obstacles in between.

course and applies course feedback from the app about his pace and distance. Now, with so much experience running solo, he has adapted to various courses and uses the app less often.

Simon, who is 35, said he believes his feelings of freedom and independence from running solo “far outweigh any anxiety over dangers. My successful footsteps must be something like 99.999%, and there’s just that one every now and again that goes wrong. I try to concentrate on the millions that go right rather than the 10 or 15 that go wrong.”

Simon taught all of us at this exceptional conference the power of pushing through and endurance, lessons that can help all of us in overcoming any adversity.

For more on Simon, click here.

To Test or Not To Test: 5 Reasons We Think You Can And Should Get a Genetic Diagnosis For Your IRD

Hey LCA or IRD family, does any of this sound familiar?

You or your child has received a clinical diagnosis of LCA (leber congenital amaurosis), RP (retinitis pigmentosa), cone-rod dystrophy, or another crazily-named inherited retinal disease AND…

  • Your doctor wants to help, but isn’t sure where to direct you or what to do next.
  • Your doctor doesn’t even think you should bother. (There aren’t any cures or treatments available so why waste your time and energy?)
  • You’ve been genetically tested at least once (and maybe five times before). No one gets back to you and if they do, the results are negative.
  • Your insurance company doesn’t want to cover the cost.
  • OMG, you’re frustrated! No one seems to be able to give you clear direction and you’re not getting any answers.

On one hand, we wish we could say this experience is rare and unique! But the truth is that you’re in good company. There is still so much confusion around getting to a genetic diagnosis for your inherited retinal disease. The good news is, we are not confused on one item: YOU NEED TO GET TESTED! And here are five reasons why.

  • Misdiagnosis is still more common than we wish. Until you have a genetic diagnosis, you just can’t be sure you really have LCA, or RP, or another IRD.
  • It’s not just about blindness. This is the somewhat scary part that you might not be aware of, but several of the genetic defects that come with these rare IRDs, also impact other organs. For example, some LCA genes are reno-retinal genes, meaning that they may also impact kidney function. We’re not sharing this information to scare you into getting tested, but to highlight just how important it is to make sure you have a clear, genetic diagnosis so you can be prepared and provide the best care possible for any other possible conditions.

Treatments and cures are coming! That tired story of don’t bother because there’s nothing you can do is bogus. There is already a proven treatment for one form of LCA (RPE65) and there will be others. If you don’t have a diagnosis, you can’t participate in clinical trials or take advantage of treatments as they become available. That is a real bummer.

  • We know where you can get tested. We are so close to cures and treatments today that there are FREE programs like Spark Therapeutics’ ID Your IRD and programs through the Foundation FIghting blindness that you may be able to take advantage of. Check out our website resources for information, or contact us and let us help!
  • Knowledge is power. ‘Nuff said.