A Family's Story
LGMD2I/R9
When our son was diagnosed with Limb-Girdle Muscular Dystrophy type 2I/R9, the world went quiet for a moment. Then we started asking questions — and we never stopped. This is our honest story: the fear, the learning, the community, and every hard-won step forward.
Plain-language answers to the questions we wished someone had answered for us from day one.
Read More →The phone call. The silence. The nights that felt impossible. The raw, unfiltered story of how we got here.
Read More →Research is advancing. Communities are forming. Everything that keeps us going, even on the hard days.
Read More →Appointments, therapies, milestones, setbacks, and the unexpected joys that show up along the way.
Read More →Understanding the Diagnosis
We break it down in plain language — what it means, how it affects the body, and what we wish we'd known from day one.
Looking back, the signs were there early — we just didn't know what we were looking at. What we thought were growing pains. Fatigue that seemed bigger than the moment. A kid who was working harder than other kids to do things that looked effortless for everyone else.
For years, those things floated in the background. Not alarming enough to chase down, but never quite right either. By middle school, the fatigue wasn't something we could explain away anymore.
"Ask the question. Do not stop asking the question."
It was a nurse practitioner who finally took us seriously — who heard what we were saying and didn't redirect us toward reassurance. She ordered labs. And that's where we found our first real answer: a CK level that was shockingly elevated. That number became our Rosetta Stone. It told us: something is happening in the muscles. Now we could start asking the right questions.
What followed was a referral to neurology, more testing, and eventually a call that changed everything. Not a casual call — the kind where a doctor tells you to come in. The kind you remember exactly where you were standing when you answered.
Limb-Girdle Muscular Dystrophy type 2I — now also classified as LGMD R9 — is a rare genetic condition that causes progressive weakness in the muscles closest to the body's core: the hips, thighs, shoulders, and upper arms. The "limb-girdle" in the name refers to the muscle groups around the shoulder and hip girdles — the ones that connect your limbs to your trunk.
It is caused by mutations in the FKRP gene, which plays a role in how a protein called fukutin-related protein is made. That protein is critical for the proper glycosylation (sugar-coating) of alpha-dystroglycan — a molecule that helps anchor muscle fibers to the surrounding tissue. When that process breaks down, muscle fibers are more vulnerable to damage and can't repair themselves as effectively.
The result, over time, is weakening of those core muscle groups.
Because LGMD2I/R9 affects the limb-girdle muscles, it can make everyday movements — climbing stairs, rising from the floor, lifting overhead — progressively more effortful. The degree of progression varies significantly from person to person, even among people with the same genetic mutation. Some individuals remain ambulatory well into adulthood; others experience faster progression.
Respiratory and cardiac monitoring are also part of the picture — the condition can affect muscles beyond just the limb-girdle in some cases, so regular check-ins with pulmonology and cardiology become part of the rhythm of care.
LGMD2I/R9 is an autosomal recessive condition. That means a child must inherit one mutated copy of the FKRP gene from each parent in order to have the condition. Parents are typically carriers — one working copy, one mutated copy — with no symptoms themselves. Two carrier parents have a 1 in 4 chance with each pregnancy of having a child with the condition.
We are both carriers. We didn't know. That's one of the reasons we share this story.
If you're reading this because you just got a diagnosis: You are not behind. You are not too late. The fact that you found this page means you are already asking the questions that matter. Keep going.
Our Story
The phone call. The silence. The nights that felt impossible. The raw, unfiltered experience of receiving a life-changing diagnosis as a family.
✏️ This is your space to share your family's story. How did the diagnosis come about? What were the first signs? How did you feel when you got the news? Write it in your own voice — this is the most powerful section of your site.
A diagnosis like this comes with grief — and that's okay. Grief for the future you imagined, grief for the worry you now carry, grief that is real and valid even as your child stands right in front of you, full of life and light.
✏️ Share what the emotional journey looked like for your family. You don't have to have it all figured out — honesty is what connects people.
Slowly, in the weeks and months after diagnosis, most families find their footing. The fog begins to lift, replaced by questions, research, community, and eventually — action.
Looking Forward
Research is advancing. Communities are forming. Breakthroughs are coming. Everything that keeps us going.
LGMD2I/R9 research has been advancing steadily. Gene therapy trials, exon skipping approaches, and FKRP protein replacement therapies are all areas of active investigation. The rare disease research community is small but fiercely dedicated.
✏️ Share any research updates you've found meaningful. Link to studies, clinical trials, or organizations working on LGMD2I/R9 treatments. What has given your family the most hope?
One of the unexpected gifts of a rare disease diagnosis is the community you find. Families from around the world who understand exactly what you're going through — connected by something none of them would have chosen, but bound together by love for their children.
✏️ Share organizations, Facebook groups, conferences, or specific people who have been a lifeline.
Hope isn't always big and bright. Sometimes it's just making it through the day. Sometimes it's a smile, a milestone, a moment of pure joy that reminds you why you keep fighting.
Day by Day
Day by day, appointment by appointment. Follow along as we navigate therapies, milestones, setbacks, and the unexpected joys.
✏️ This is your ongoing update section. Share where your child is right now — their age, current abilities, current therapies, and what day-to-day life looks like. Update this regularly as your journey continues.
Managing LGMD2I/R9 is about maintaining strength, function, and quality of life for as long as possible. Physical therapy, occupational therapy, respiratory monitoring, and cardiac care are all often part of the picture.
✏️ Share what therapies your child is currently doing, what has helped, what you've learned. Other families will find this incredibly valuable.
If you've found this page because your family just received a similar diagnosis — we see you. You are not alone. Reach out anytime.