Breaking the Chain: My Story of LGMD, Blood-relative marriage, Family Genetics & Protecting our Future Generation

Ever since I was diagnosed with Limb-Girdle Muscular Dystrophy Type 2B (LGMD-2B) over 20 years ago, there has been a persistent, quiet fear lingering in the back of my mind: How will this affect my children?

I rarely voiced it aloud, but it was always there. Every time one of my kids complained of fatigue or leg pain, my heart would sink. A part of me would wonder — Could they have inherited what I carry? Are they on the same path?

It took me two decades and a lot of emotional strength, but four months ago, I finally asked both my children to undergo comprehensive genetic testing — not just for peace of mind, but for clarity, awareness, and protection for their futures. The results just came in.

And I want to share what I’ve learned — not just about my family, but about Blood-relative marriages carry real genetic risks, and what we can do to safeguard the generations to come.

What I Learned About LGMD2B and Inherited Risk

I live with LGMD2B, a rare and progressive inherited muscle-wasting disease. It primarily targets the hips and shoulders — but over time, it spreads, weakening other parts of the body as well. The root cause? A mutation in the DYSF gene, which normally produces dysferlin, a protein vital for muscle repair and regeneration.

But when that protein is missing or defective, muscles don’t heal — they break down slowly and irreversibly. And that’s exactly what has been happening in my body. Over the past 20 years, I’ve lost over 40 pounds of muscle mass — not due to age, diet, or inactivity, but because my body literally cannot rebuild what it loses. This isn’t just fatigue or weakness. It’s a progressive erosion of strength, independence, and normalcy — one muscle fiber at a time.

This is an autosomal recessive condition, which means you need two faulty copies of the gene — one from each parent — to develop the disease. That’s exactly what happened to me.

Both my parents were blood related, and unknowingly carried the same mutation. Their marriage passed down two defective copies of the DYSF gene to me. That silent inheritance shaped the course of my adult life.

The Hidden Toll of This Disease:

Unless you live with a progressive condition like LGMD, it's hard to imagine how deeply it can impact daily life. Even simple tasks can become monumental:

• Walking requires constant focus — even slightly uneven or elevated surfaces pose a challenge and increase the risk of falling

• Raising arms, changing clothes, or carrying things is physically exhausting

• Getting up from a chair or toilet seat sometimes requires help or assistive devices

• And there's this low level mental anxiety: What if you fall and no one is around to help you get up? Can you travel safely? Are you losing more strength?

  
  

This isn't just about weak muscles — it's about the emotional, social, and psychological ripple effect it creates.

The Results of My Children Are In:

Thankfully, I chose to marry outside the family — my wife and I are not blood-related.

The genetic test showed that both my children are carriers of the LGMD2B mutation — they inherited one faulty gene from me, but a normal gene from their mother. Because they each have only one copy, they will not develop the disease. This news brings immense relief. But it also brings responsibility.

They will need to be very mindful when choosing a life partner. If they marry someone who also carries the same mutation, there's a 25% chance their children could inherit both copies — and be born with the same condition I have.

This is why genetic awareness is no longer optional. It’s essential.

Why This Matters — Especially in Cultures That Encourage Blood-relative marriage:

I understand that marriages between blood relatives are still practiced in many cultures — often rooted in religious beliefs or long-standing traditions. However, these choices can carry serious genetic risks that often remain hidden until they surface in future generations. The good news is that we now have clear scientific evidence highlighting these risks, giving us the opportunity to make more informed and responsible decisions moving forward.

Consanguineous marriages (between blood relatives) greatly increase the chances of both parents carrying the same rare mutation. And that puts their children at risk for:

• Muscular dystrophies like LGMD-2B

• Thalassemia

• Spinal Muscular Atrophy (SMA)

• Cystic Fibrosis

• Deafness, blindness, and mental disabilities

• Many other inherited metabolic or neurodegenerative disorders

The suffering caused by these preventable genetic combinations is immense — and often lifelong.

A Message to Parents, Elders, and Youth:

This is not about blame. My parents didn’t know what they were passing on. But now we do.

We live in an age where genetic testing is available. We can make informed decisions.We can still honor tradition — but only when it does not harm the next generation.

So if you’re from a family or community where marriages between blood relatives is practiced, please pause and think:

• Would you rather preserve a tradition, or protect your child’s ability to walk, run, and live freely?

• Before marriage, ask for genetic carrier screening — it's a simple act that can prevent a lifetime of suffering.

  
  

Final Thoughts: My Reason for Sharing This:

It took courage to get tested. It takes even more to speak publicly about something so private. But if my story can prevent even one family from going through what I have — it’s worth it.

We can stop these genetic conditions from silently repeating themselves — one informed decision at a time.

Let’s be brave enough to break the cycle.

Written by: Syed Abbas Plant-Based Health Coach | LGMD2B Advocate