WHO WE ARE
We are a patient-led international group encouraging efforts by research and medical professionals, national support groups and individual patients worldwide.
We have assembled a diverse board comprising patients and family members from New Zealand, Canada, California, Texas, New York, Wales, and Germany.
OFFICERS OF THE BOARD
Walking to piano lessons at the age of 6 is the first memory Stacey has of being ‘different’. The inability to keep up with her peers and constant embarrassment continued into her adulthood. At the age of 36, Stacey became de-conditioned following an accident that limited her exercise. A couple of years later while attempting to regain her fitness she landed in the hospital with rhabdomyolysis. She was finally diagnosed with McArdle disease at the age of 38.
In 2007, Stacey made contact with Andrew Wakelin through the AGSD-UK and learned strategies to manage day-to-day. In 2010, she travelled to Wales and participated in the ‘Walk over Wales’. This life-changing event set the stage for continued involvement in supporting other patients with McArdle disease - from chronicling her journey in the book ‘One Step at a Time’, to completing a doctoral degree focusing on access and care issues for patients with McArdle disease.
Stacey’s background in nursing and health policy, coupled with having McArdle’s has enabled her to develop a comprehensive understanding of both the patient experience and the issues rare disease patients face. Stacey has served as a board member on various health and community focused organizations.
Terri’s son, Dan, was diagnosed with McArdle Disease in 2004 at age 12 after a long and frustrating two year journey searching for a reason for Dan’s puzzling struggles with exercise and activity. She soon discovered that having a diagnosis was just the beginning. The lack of access to proper management advice for Dan along with the difficulty experienced seeking care after two serious injuries, prompted her to seek help from out of state experts and to work towards bringing awareness to this rare and often misunderstood disorder. Her background in Medical Social Work and patient customer service inspires her to work with others to advocate for the availability of proper care for all while encouraging communication with the medical community.
Terri is a firm believer that bringing together those who share common experiences is both healing and empowering. She helped organize a patient workshop in NYC with Dr. Alfred Slonim to discuss the use of a ketogenic diet as a possible management tool for McArdle’s. Most recently, she brought a group together and arranged for them to share their experiences using a ketogenic diet to help manage their muscle GSD to an audience of medical, dietary and research professionals at a low carb conference in San Diego.
Currently she enjoys being an admin on a McArdle Parent Facebook support group page. Understanding the loneliness of having a child with a rare disorder, she helps other parents connect to have a safe place to learn about McArdle’s and share experiences while supporting and encouraging one another. She is passionate in helping parents become strong advocates for their children.
MEMBERS OF THE BOARD
Jared, like most patients, can remember symptoms in early childhood. He spent most of his life trying to play catch up with friends who were faster, stronger and had more endurance. His love for sports and competition combined with his obvious (but unexplainable) limitations were a constant source of frustration. Believing he was simply out of shape and desiring to overcome this, Jared struggled with mild episodes of rhabdo - such as muscle contractures and dark colored urine - without seeking medical treatment. He even remembers once in the locker room another classmate commenting on his extremely brown urine being out of the ordinary. Still, Jared didn't think anything of it and continued on with the belief that more hard work was required to overcome his issues.
It was in college when his then high-school-aged brother was admitted to the hospital in severe rhabdo that Jared began to realize something was strange. Jared shared all of his brother's symptoms and thought nothing of it until the doctors and nurses treating his brother began to show concern. A brief trip down to Dallas and a muscle biopsy from Dr. Ronald Haller indeed confirmed that both brothers shared the diagnosis of McArdle disease.
Since then, Jared has become an Emergency Medicine Physician living in the Dallas, Texas area. While he isn't treating many McArdle patients, his living with a disease that so few understand has helped him hold on to the empathy and open-mindedness required to practice medicine well, and he has continued to contribute to research done by Dr. Haller and his team in hopes to someday see a treatment or cure for the disease. He is married to his high school sweetheart and together they have three wonderful and healthy children.
Monika’s son was diagnosed with McArdle in 2008 at age 21. The doctors’ statement: it’s just a condition, nothing can be done. Arik was struggling a lot, so Monika started to do some research. In 2011 she found via the “Selbsthilfegruppe Glykogenose” (SHG), that a McArdle-Handbook had just been published in the UK.
Her translation of the handbook was published by SHG in 2012. Thanks to close cooperation with Andrew Wakelin, the tip-booklet followed in 2013, the Medical Overview in 2015. Monika is member of the board of SHG, and McArdle coordinator. She is focusing on distributing information in German speaking countries, building up a network and writing articles for medical journals. The support of Euromac, the European network for muscle GSDs, includes the necessary translations and identification and invitation of medical experts from Austria and Switzerland as contact persons for Euromac. A third area of engagement is the support of research projects, such as a study about the ketogenic diet.
Monika used to be a teacher (German literature), but worked for most of her active time at the research institute for distance studies at Hagen University. Here she completed her doctoral degree in 1979.
Andrew recalls symptoms from age 4, but gave up seeking a diagnosis at 16. In 1980, age 30, a rheumatologist investigating his gout listened to his history, did a CK test, referred on to a neurologist and at last there was a diagnosis. But he had no information for another 20 years.
Andrew found the McArdle Clinic in 1999, then operating three afternoons per year. He began to help develop the clinic and assist many more patients. In 2004 he took on the voluntary role of AGSD-UK McArdle’s coordinator. Realizing he was one of the highest functioning McArdle people he began analyzing what he had done and how he managed – culminating in the “101 Tips” book and other advice. He has developed walking courses attended by people from 14 countries. He has met over 300 McArdle people and has assisted patients, doctors and researchers to better understand the condition.
A graphic designer by training, Andrew ran his own design company for 25 years, then a software company. He has served as trustee and chairman in local and national non-profit organizations, including AGSD-UK. He is a board member and patient representative on Euromac, the European network for muscle GSDs.
Michael has memories of McArdle’s from age 4, being unable to keep up with his classmates during playtime at school. Over the years his symptoms led to two misdiagnoses: first as ‘exercise-induced asthma’ (due to shortness of breath); and later as hepatitis (due to elevated liver enzymes discovered in a routine blood test at age 15). The latter diagnosis forced Michael to undergo over ten years of gastroenterologist care, which included two liver biopsies.
A frustrated and curious specialist finally tested Michael’s CK for the first time in 2006. The abnormal results set off a chain of doctors who eventually ordered a muscle biopsy, which confirmed the McArdle’s diagnosis when Michael was 27. This news was great relief to Michael, who was fortunate to be under the care of Dr Alfred Slonim until his retirement. Michael has enjoyed getting to know other McArdleites over the years online and in person at gatherings in New York.
A native of California, Michael moved to New York City in 2002 to attend graduate school at Columbia University. He currently resides in Lower Manhattan with his husband, works as an architect, and enjoys living in a relatively flat, very walkable place.
Confusion and fatigue blanketed Dan’s childhood. Life before diagnosis is difficult for McArdleites.
Though his best friend Max lived nearby — uphill, just seven houses away —Dan would routinely stop and rest due to overwhelming exhaustion. Discouraged, he would sit on the sidewalk and peer downhill as his mom Terri looked on. They were both confused; though he was a visibly healthy and active child who loved baseball and all things sports, doctors could only suggest that these symptoms were due to general decondition or exercise-induced asthma. Nothing added up. Terri sought answers and scoured the pre-social-media internet for years.
In 2004, Dan was diagnosed with McArdle disease at the statistically young age of 12 — most people with the disease are diagnosed later in life. Life after diagnosis was clearer, but he still ran into trouble while attempting to stay active. At ages 16 and 17, Dan suffered two bouts of rhabdomyolysis and was hospitalized with creatine kinase levels in the 200,000’s. He gave up his dream of playing high school baseball and pivoted to the high school newspaper. At age 18, now in contact with a global McArdle patient community, he carried a camera with him to Wales. There, he traversed 210 miles of countryside in 32 days with Stacey as Andrew trail-blazed and led by example. For the first time, he hiked with people who understood him fully.
Since that “Walk over Wales” in 2010, Dan has built a photo-journalistic archive of the annual McArdle’s walking courses. His images have been used by IamGSD and have been published in various McArdle publications. In 2015, he published the mini-documentary “Living well with McArdle Disease”, which highlights patient experiences on the annual walking courses. At international GSD conferences, he has presented his photo story of a muscle-injury-free trek up Mt. Shasta (14,179 ft) to an audience of patients and clinicians.
Dan wonders if the tool of digital media can be sharpened and used for outreach. Can we use images, stories and video to reach undiagnosed McArdleites who may not have access to specialists or adequate medical guidance? In the existing McArdle’s community, Dan is passionate about connecting with the newly diagnosed and with McArdle’s youth through the sharing of stories.
Rosalind has been aware of symptoms as far back as she can remember. Her father and 2 of her 4 siblings experienced similar symptoms and finally in 1982 her father pushed his GP to search further for answers, leading to a diagnosis by muscle biopsy for him, and anecdotal diagnoses for Rosalind and her siblings. They were all diagnosed by DNA testing several years later.
Rosalind and her affected family took part in various trials and tests at Belfast City Hospital in Northern Ireland and later became members of the AGSD (UK). Rosalind has attended several AGSD (UK) annual conferences, meeting other McArdle’s patients and experts, including Dr Slonin and Dr Quinlivan. She had a brief consultation at the McArdle’s Clinic in London at the end of 2011, before emigrating to New Zealand with her husband and two young sons.
Rosalind worked as a legal secretary in the UK for several years before starting a family and currently works part-time as an office administrator.
Ian is a retired pharmacist in his eighties but in good health, blood pressure under control with one drug and McArdle symptoms under control primarily with exercise combined with dietary awareness.
He worked for over 50 years in pharmacy, mostly in retail but also in administrative roles as district supervisor for a drug store chain, volunteer for CUSO (a part of Canada’s foreign aid), managed his own pharmacy and some other non-pharmacy businesses and was a member of the board of directors of the BC Pharmacy Association.
He had a moment of impending doom at age 5 when he was unable to climb back out of a catch basin at the side of a road and his friend got him soaking wet pulling him out. The friend was 4 years old.
Ian was convinced that he was an unmotivated wimp growing up, everybody told him he was. There were moments of high, like getting third place in a 15 yard race in grade one, although he was never able to keep up with other kids running in the neighborhood. And lows like being cursed and laughed at in softball for not being able to run past first base in elementary school.
Younger smaller kids easily beat him in fights, at age 16 he learned to negotiate his way out of situations. There was a vague memory of black urine at age 8, at that time he was confined to bed for a week and due to pains was misdiagnosed with rheumatic fever until it proved to be wrong. Other instances of what was undiagnosed rhabdomyolysis occurred in university and many times later in life.
At age 35 he was a volunteer with CUSO in St. Kitts. Ian’s best friend there was a Canadian doctor and they and their spouses spent a lot of time together. When Ian’s cramped fingers and arms after helping carry a small boat caught the doctor’s attention, he asked a few questions and told Ian that he had been born with a congenital muscle disease. One of Ian’s planned projects there was to start a medical library, so he only had his own copy of the Merck Manual to refer to, as Dr. Pugh was leaving the island the next day. McArdle’s disease seemed to describe Ian, and since there was no known cure or treatment, he was just pleased to have that answer to his lifelong problems.
Getting a diagnosis through DNA began after a high CK level was noted in 2009 and took several years, but Sheffield labs in the UK returned the verdict of GSD5 in 2016.
PAST BOARD MEMBERS
Our grateful thanks to those who have served on the IamGSD board in past years.
Derek Altimas, Canada, served 2017 to 2020.
Rose Alvellino, USA, served 2017 to 2018.
Jeremy Michelson, USA, served 2017 to 2021.
Stephanie Von Dressler, USA, served 2017 to 2019.
How international dimensions and connections grew, and three people got together to create IamGSD.
Andrew was diagnosed in 1980 but it was only in 1999 that he was first able to contact other patients. In 2004 he volunteered as the AGSD-UK McArdle’s Coordinator and began to make international connections. Stacey was diagnosed in 2007, and in 2008 set up the McArdle’s Facebook group and Andrew joined her as an Admin. It soon became the main point of contact between patients worldwide. The two finally met at the AGSD US conference in Denver in 2009. When Stacey heard of Andrew’s plan to walk 210 miles across Wales she wanted to join him. In July 2010 three McArdlites set out from the North Wales coast and by the time they reached Cardiff Bay they numbered five (from five countries on three continents). The talk along the way, and all the responses on their daily blog, began to convince Andrew and Stacey that there was a need for an international body for McArdle’s.
Stacey, a Registered Nurse, was coordinating patients in Canada and was completing her PhD in Health Policy, focusing on Centres of Excellence for rare diseases such as McArdle’s. Meanwhile, Andrew had become the patient representative on the board of Euromac, and his book “101 Tips” and the Medical Overview booklet had been translated into eight languages. In late 2014 they started to talk about setting up the World McArdle’s Association (WMA), but the obvious location was in the USA and neither of them lived there. The many hurdles to getting the WMA established meant it got stuck on their “to-do” list.
Jeremy had been diagnosed with Tarui disease (GSD7) in 2011. In 2015 he was on a semester at university in Denmark and Andrew invited him to London for the annual GSD7 clinic, where they met for the first time. Stacey and Jeremy finally met when they both presented at the Low Carb conference in San Diego in July 2016. Three months later Jeremy presented at the AGSD-UK annual conference. Staying with Andrew for a few days, Jeremy was intrigued by the plans for the WMA. He suggested it would be better to include all the muscle GSDs and came up with the name International Association for Muscle Glycogen Storage Disease, making the phrase “IamGSD”. It turned out that the name and the web domain were available. Stacey and Andrew agreed with the wider remit, and Andrew and Jeremy sat at Andrew’s kitchen table and designed the logo!
Jeremy lived in California and offered to host our registered address, and to recruit family members to advise on the non-profit requirements, complete the legal formalities and open a bank account. It was the breakthrough we needed! The founding trio then brought in more board members, developed our vision, mission and objectives, and set up our website. IamGSD was formally launched at the international GSD conference (IGSD2017) in The Netherlands in June 2017.
Andrew and Stacey remain on the IamGSD board. Jeremy, after a degree in Neuroscience and two Masters in Nutritional and Metabolic Biology, is concentrating on studying for his PhD.