Ready, willing and prepared: living with LGMD2i and navigating clinical trials

In June 2026, I met Marg online to talk about her experience of living with a rare condition, and in particular about searching for and accessing clinical trials. Marg lives in Canada and has spent more than 20 years learning about LGMD2i, the muscle-weakening condition she was eventually diagnosed with.

LGMD2i, also known as LGMDR9, is a type of limb-girdle muscular dystrophy. Over time, it weakens the muscles closest to the body: the hips, thighs, and shoulders. All the types of limb-girdle muscular dystrophy are rare — together they affect about 2 in every 100,000 people worldwide¹— and while LGMD2i is one of the more common types, it is still rare.

It is also a genetic condition, inherited in what is known as an autosomal recessive pattern — in fact, the recessive inheritance is what the “2” in LGMD2i (and the “R” in LGMDR9) signals. In practice, that means a person only develops the condition if they inherit a changed copy of the gene from both parents. A parent who carries just one changed gene usually has no symptoms and may have no idea they are a carrier². That was the case for Marg: she inherited one faulty gene from each parent, neither of whom knew they carried it, and she is the only person in her family with the condition.

This is Marg’s personal story, not medical advice. But if you are living with LGMD, or caring for someone with it, I hope it offers some insight into one person’s experience of navigating rare disease and clinical trials.

What are the early signs of LGMD2i?

Marg told me the early signs of LGMD2i are easy to miss, and in her case, they were especially easy to overlook. She had always been strong and active, going mountain biking, lifting weights and swimming. She told me she looked strong and muscular, and that was part of why no one thought to look for a muscle disease. Marg is now 51, but her first symptoms began at around 30, only about two weeks after her second child was born.

“It didn’t dawn on anybody that I might have a muscular disease. It wasn’t even on the radar.”

The first real sign came when she fell down the stairs. At the time, she put it down to nerve damage from an earlier C-section. Difficulty with stairs is one of the early signs of LGMD2i, but for Marg, the pattern only became clear much later.

How was Marg diagnosed with LGMD2i?

Marg’s diagnosis didn’t arrive all at once. In large part, she worked it out herself. Before having children, she’d worked in a medical laboratory, which meant she knew how to make sense of her own test results.

In her early twenties she’d had some unusual blood results – at the time it was assumed they were a result of the birth control she was taking. Years later, similar results appeared again — and this time Marg knew how to read them. She placed her old and new lab work side by side, drew up her own list of possible conditions, and narrowed it down to five. LGMD was one of them.

She taught herself everything she could about each possibility. She told me the turning point came while watching a video of a woman with LGMD standing up and taking two steps. “She kind of moves like me,” Marg said — and from then on, she felt she might have muscular dystrophy.

She kept pushing for answers, but it wasn’t straightforward. She was tested for several other conditions first, and it took a few years to get clarity. Eventually she saw a surgeon who didn’t think she had muscular dystrophy and wasn’t convinced she needed a muscle biopsy, so she had to push hard to get one.

Marg also knew the biopsy carried a risk which she couldn’t ignore. The general anesthetic used to put patients under can trigger a dangerous reaction called malignant hyperthermia in people with muscular dystrophy. So she made that clear to the surgeon, nurses, and anesthesiologist:

“Please do not give me the meds that can cause malignant hyperthermia — I really think I have muscular dystrophy.”

The biopsy went ahead safely and led to genetic testing. The results showed she had been right, and she was diagnosed with LGMD2i.

What is daily life with LGMD2i like?

Day to day, living with LGMD2i means making practical adjustments — and, in Marg’s case, meeting them with a calm, no-nonsense attitude. She uses a walker whenever she is outdoors, and at home she has arranged the furniture so she can move from one steady point to the next, in what she calls her “furniture walks.”

Home matters a great deal to Marg. She and her partner built their two-story house in Canada 31 years ago, and it is where they raised their family. It has steps everywhere, and when she was diagnosed, they looked at renovating it for the changes they expected to need. The estimate came back very high, so rather than give up their home, they chose to stay as long as they could, adapting as they go. That uncertainty runs through everything, as no one can tell Marg how the condition will progress for her.

“A doctor can’t say with certainty, this is where you’ll be in five years. We are all so different.”

However, what struck me most was how Marg talks about mobility aids. What might sound daunting to someone newly diagnosed, she describes as freeing. Her early fear of needing a wheelchair has turned into something much closer to acceptance.

“You need glasses, you put glasses on. A wheelchair should be the same. You need one, you get one, you carry on.”

Now that she relies on a walker, she notices how inaccessible many public buildings still are. She described a dentist’s surgery with no automatic doors and another building where the ‘accessible’ route sent her diagonally across a parking lot. These are the daily unexpected hurdles she wants others with a muscular dystrophy to watch out for.

Why did Marg decide to look for a clinical trial?

Early on, Marg searched hard for answers. She spent hours online, even reading medical papers translated into English, wanting to understand her condition and any treatment options. At that stage, she couldn’t find a trial relevant for her, so she made a deliberate choice to step back, to “live in the moment” and spend time with her family.

When COVID arrived, with more time at home, she looked again — and this time found that trials relevant for her condition were finally getting closer. She signed up for updates on every research website she could find. With no trial sites in Canada, she cast her net across the world.

“Message me back — I’ll come anywhere.”

I asked Marg how she weighed up the risks and benefits of taking part in a trial. At her age, she told me she is finished having children and her family is grown and independent, so she feels well placed to accept the unknowns a trial might bring.

How do you find a clinical trial for a rare disease like LGMD2i?

For Marg, two things made the biggest difference: community, and a dedicated myTomorrows patient navigator.

The online LGMD2i community changed a lot for her. She found it mostly through Facebook during COVID and went from feeling like “the only one” to making real friends — some of whom she has never met in person but loves all the same. People online actively share information about trials and ongoing research, which gave her new leads to follow.

“There’s a whole segment of people here with LGMD2i. I’m really not alone.”

That kind of community can be hard to find. Because of patient privacy rules, doctors often can’t connect patients to one another, so people regularly have to seek out others living with a similar condition. As Marg put it: “We have to go outside to find everybody.”

It was through her own searching, on clinicaltrials.gov, that Marg found a relevant trial. She then connected with myTomorrows, booked a call at a time that suited her, and began working with her patient navigator, Madeleine.

myTomorrows patient navigators are there to help patients and caregivers discover and access clinical trials. They offer dedicated one-on-one support for any questions you may have and help to demystify the process of finding a relevant clinical trial.

Madeleine helped Marg understand the trial requirements and gather the information she would need for a referral. Having one place to discuss opportunities and ask questions made the process feel much more manageable.

Marg said that she really valued that all relevant trials were in one place, that there was an easy way to get in touch, and that replies were fast, kind and helpful every time.

“She’s very kind, and very quick. I can’t think of a time I emailed her that she didn’t respond quickly. She lined up everything and sent it to the site.”

That relationship mattered most when things changed. At first, based on the available information, Marg was not considered a match for the trial’s eligibility criteria. But when the protocol criteria later changed, Madeleine contacted her immediately, reviewed the updated requirements with her, and quickly re-initiated the referral to the study site.

What does clinical trial screening actually involve?

When Marg’s referral went ahead, screening happened in stages. Here is how it worked for her.

Preparing for screening

Before any trial visit, there is usually paperwork, informed consent, a series of health checks, and potential participants need their medical records ready to share. Marg came well prepared, asking to read the consent form early — more than 20 pages — and going through it carefully.

One requirement caught her notice – it showed how a trial can affect more than just the person taking part. For a period afterwards she would need to follow precautions to protect those around her because of a small risk linked to gene therapy. She talked it through with the trial care team, which reassured both her and her partner.

The practical side was reassuring too. The site explained upfront that it would cover medical costs, travel and hotels, so for Marg’s situation cost was not a barrier. The main thing to factor in was a family member taking time off work to travel with her to site visits.

The screening itself

The screening itself came in two stages. First, there were pre-visit checks: blood work, then a wait for genetic testing and a clear AAV (adeno-associated virus) result. AAV screening measures your body’s pre-existing antibodies. Only once those came back could she travel to the site.

On-site, there was more blood work, a heart trace (an ECG) and a stair test, which she passed. The last step was a timed walk, part of the trial’s criteria: she had to cover a set distance in a set time. The hallway was very cold, and the cold affects her badly. She tried twice and narrowly missed the target by five seconds — which meant she was not eligible to join the trial at this time.

“I can’t believe I actually went down there completely organized and literally failed by five seconds. I was just in such shock.”

What do clinical trial eligibility criteria really mean?

Marg’s experience is a good moment to explain what eligibility criteria actually are. Every clinical trial sets out inclusion and exclusion criteria, known together as eligibility criteria. Inclusion criteria are what a person needs in order to join, such as a confirmed diagnosis. Exclusion criteria are the factors that would stop someone taking part safely. They exist for good reasons: to protect the people who take part, and to keep the study’s results reliable.

In Marg’s case, she had done everything she could to prepare; however, a single physical test on the day decided the outcome. Eligibility is not a judgement of the person, or of how much their condition affects them — it comes down to the specific requirements of that trial.

Criteria can also change over time; something Marg had already seen happen. One previous trial’s criteria had required people to climb stairs without holding a railing, which most people with LGMD2i cannot do. That requirement was later revised, just as she had expected. It is why a “no” today can really mean “not right now,” rather than “never.”

What does Marg want newly diagnosed people to know?

I asked Marg what she would say to someone who was just diagnosed. Her answer was both emotional and practical. A diagnosis like this is a huge moment; it requires acknowledgment, and it takes real time to come to terms with. Her advice was to give yourself space to feel it, and then, when you are ready, look forward.

“Have a cry — then shake that off and move on.”

On the practical side, Marg’s advice spans the whole journey of navigating a trial:

• See mobility aids as tools that give you freedom, not signs of defeat.
• Ask about the eligibility criteria early.
• Read the consent form ahead of time.
• Keep your medical records ready to send.
• Expect screening to take time, with waiting built in.
• Remember that not being eligible now does not mean never.

She is also a firm believer in working closely with your care team. Her own family doctor and neurologist are incredibly supportive. More than one doctor has told her she knows more about her condition than they do — a sign of how rare and individual LGMD2i is.

Above all, Marg believes in connecting with others who understand. Sharing experiences and resources made a real difference to her, and it is why she is always happy to talk with someone who has been newly diagnosed.

Staying ready for what comes next

For now, Marg is staying ready for her next chance. She practices the timed walk in her own hallway, working to get closer to the target. She hopes the criteria might change again — perhaps with the timed walk becoming a way to measure progress rather than a pass-or-fail test. Time will tell.

What doesn’t change is her readiness.

“At this point in my life, I really can be just me… and I’m willing to join a trial.”

As LGMD2i affects people in different ways at different stages of life, Marg’s story is one journey among many. But what stayed with me from our conversation was her determination and the strength of the community around her, all sharing what they learn so that others don’t have to search alone. Preparation and the right support can change how the search for a trial feels: less like a locked door, more like a path you can follow. For Marg, that community and a dedicated patient navigator were part of what kept the door open — and she is ready for it to open again.

Helpful resources

• Diagnosis to Treatment: Managing Limb-Girdle Muscular Dystrophy
• Navigating Limb-Girdle Muscular Dystrophy: Mobility Aids and Resources
• What is a Clinical Trial? How Clinical Trials Work
• Clinical Trial Inclusion & Exclusion Criteria: How to Know If You May Qualify
• Clinical Trial Glossary: Key Terms for Patients