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Dan Jeffries me myself and eye crdn summit 2017
This document discusses rare diseases and proposes three ways to improve the patient journey: 1) earlier diagnosis of rare diseases to help patients receive timely treatment; 2) using IGF-1 and OGTT tests to help diagnose acromegaly; 3) continuing efforts to raise awareness of rare diseases to help more patients get diagnosed.
Dan Jeffries me myself and eye crdn summit 2017
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- 15. 2. IGF-1 andOGTT
- 16. 3. Continue toraise awareness
Editor's Notes
- #2 MY NAME IS DAN JEFFRIES - AND I AM VERY VERY RARE
- #3 I was born with a condition called Wyburn-Mason syndrome. In a nutshell, Wyburn-Mason syndrome — also known as Bonnet-Dechaume-Blanc syndrome or retino-encephalo-facial angiomatosis — is a rare condition that is characterised by arteriovenous malformations that affect the retina, visual pathways, midbrain and facial structures. It’s usually unilateral and is often asymptomatic.
- #4 DON’T WANT TO INSULT INTELLIGENCE BY EXPLAINING THAT JUST IN CASE YOU’RE NOT SURE WHAT A ‘retino-encephalo-facial angiomatosis’ is, HERE’S MY simplified explanation.
- #5 Arteriovenous Malformations or AVMs are - simply put - a tangle of blood vessels. No one knows why these grow. In the case of my Wyburn Mason syndrome, these formed around the eye and brain. For me, these deformed blood vessels are in the left eye. It means I am totally blind in it. Totally. No light, no shapes: nothing.
- #6 Right Eye - Normal
- #7 Left Eye - Not normal
- #8 However, to look at me as a child, you wouldn’t know there was something wrong. CLICK
- #9 Until you see this picture. AND THEN - WHEN I WAS 30 - I WAS DIAGNOSED WITH ANOTHER RARE CONDITION.
- #10 WHEN 30, DIAGNOSED WITH ACROMEGALY - A BENING TUMOUR IN THE PITUITARY GLAND
- #11 10 YEARS ON - I’VE WRITTEN A BOOK ABOUT MY JOURNEY AND AM AN ADVOCATE FOR ACROMEGALY AND WYBURN-MASON SYNDROME
- #12 HERE’S MY PATIENT JOURNEY. PLEASE TAKE TIME TO READ AND LEARN ABOUT TWO RARE CONDITIONS. YOU CAN ALSO FIND OUT MORE ABOUT THEM ON MY OTHER POSTERS…
- #14 TODAY WE’RE GOING TO FOCUS ON ACROMEGALY, BECAUSE YOU’RE MORE LIKELY TO COME INTO CONTACT WITH THAT THEN WYBURN-MASON SYNDROME. HAVING SPOKEN WITH THE ACROMEGALY COMMUNITY ACROSS THE GLOBE, HERE WERE THE THREE MOST COMMON HOPES FOR THE FUTURE…
- #15 ACROMEGALY TAKES ON AVERAGE 8-10 YEARS TO DIAGNOSE SYMPTOMS CAN BE SUBTLE + CHANGES IN APPEARANCE TAKES TIME HOW CAN WE TRY AND DIAGNOSE EARLIER? ENDEAVOUR TO MAKE THE MEDICAL COMMUNITY AWARE OPTICIANS AND DENTISTS CAN HELP: LOSS OF VISION, GAPS IN TEETH, CHANGE IN BITE MY DENTIST REQUESTED TWO MOLARS BE REMOVED BECAUSE OF MY BITE - BUT NO ONE ASKED: WHY HAS THIS HAPPENED? GP’s MAY NOTICE CHANGE IN APPEARANCE TOO. IF SO, ACT!
- #16 Insulin-like growth factor-1 (IGF-1) is a hormone that's closely tied to growth hormone. GH tells the body to make IGF-1, which in turn causes tissues in your body to grow. In someone without acromegaly, a high IGF-1 level is the body's signal to stop producing GH. For a person with acromegaly, though, the body continues producing GH, regardless of high IGF-1 levels. DOCTORS AND HEALTHCARE PROFESSIONALS SHOULD HAVE BETTER AWARENESS THAT AN IGF-1 BLOOD TEST WITH A GLUCOSE TOLERANCE TEST WILL GREATLY HELP IN DIAGNOSING ACROMEGALY. MY DOCTOR WAS NOT AWARE - I HAD TO ASK, AND HE HAD TO CHECK GOOGLE!
- #17 Scientists estimate that three to four out of every million people develop acromegaly each year and about 60 out of every million people suffer from the disease at any time. This may be even higher, with recent figures suggestion 200 in every million. CONTINUED COVERAGE IN THE MEDIA AND THROUGH SOCIAL NETWORKING IS KEY. ACROMEGALY CAN KILL IF NOT DIAGNOSED QUICKLY, AND - AS MENTIONED PREVIOUSLY - DENTISTS, OPTICIANS AND HEALTHCARE WORKS AN PLAY A HUGE ROLE. ACROMEGALY IS OFTEN DIAGNOSED WHEN RINGS ARE TOO SMALL OR SHOES ARE TOO TIGHT. IT MAY SOUND DAFT, BUT JEWELLERS AND SHOE STORES COULD HELP IN DIAGNOSIS TOO.
- #18 SO HOW CAN YOU HELP? NOVEMBER 1ST IS ACROMEGALY AWARENESS DAY. SOCIAL MEDIA WILL BE AWASH WITH PICTURES AND STORIES. SHARE, SHARE, SHARE. FOR THOSE IN THE MEDICAL PROFESSION > ENSURE YOUR STAFF ARE AWARE OF THE SYMPTOMS FOR THOSE IN THE PHARMA INDUSTRY > LISTEN TO YOUR PATIENTS TO ENSURE THEY GET THE BEST EXPERIENCE POSSIBLE
- #19 Thank you for listening. If you’d like to find out more about my story, come and find me.
- #20 THANK YOU