What I’ve Learned Since My Son’s LAMA2 MD Diagnosis

What I’ve Learned Since My Son’s LAMA2 MD Diagnosis
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On Oct. 21, 2019, I sat in a doctor’s office with my 11-month-old son, Alfie, and was handed a piece of paper. Nothing was said, nothing was explained — I was just given the paper.

This piece of paper included words such as “severe,” “deformities,” “insufficient,” “seizures,” “inability to walk,” and “life-limiting,” to name a few. I sat there, crying, while the geneticist and genetic counselor continued to talk about my son as a diagnosis, not a person. For every question I asked, I only received “We don’t have a crystal ball” in response.

I left, still crying. I went home and sat on the lounge, cuddling my little boy. I felt numb and hopeless. And when my partner came home, when my parents visited, I did the same thing. I said nothing and just handed them the piece of paper. What could I say? Even I had no idea what was going on.

The next few months, we just went through the motions. There was so much to be done. Finding therapists, attending appointments, tube-feeding, doing swallow studies, sleep studies, and an echocardiogram — all atop regular, day-to-day life. I was pretty numb and very sad.

I was very lucky to have good friends and family around me because Alfie’s diagnosis consumed me. They listened as I went on and on about Alfie, how I felt, the very few other affected children I’d found online, and insensitive things that doctors or even strangers in the supermarket would say to me. I cried — a lot. I cried during appointments, after appointments, after play groups, and just about everywhere!

In the last few months, I’m glad to say that something has changed. Alfie still has a diagnosis of LAMA2-related muscular dystrophy. We still don’t have that lucrative crystal ball, which can be incredibly scary. I still have days when I’m teary.

But I’ve learned that Alfie is so much more than that stupid piece of paper. What the doctors didn’t tell me was that Alfie would light up the room everywhere he goes. That he would make me smile and laugh every day. That he would have the most beautiful manners and say, “Thank you” and “Bless you.” That he would sit up in the trolley with the biggest smile on his face, saying hi to every person in every aisle we walk down. That he would love music and singing and dancing. That he would chase me in his Wizzybug and laugh his head off at his stinky feet.

I thank my lucky stars every day for Alfie.

While those of you reading may not be in the same exact position as me, as a mother and caregiver navigating the world of muscular dystrophy, I hope to share parts of my life that may still resonate — perhaps similar experiences or feelings. I hope to increase knowledge, change perceptions, and ensure that we all learn to have a little more grace and understanding.

If your child is facing a diagnosis, I know the journey may seem scary and daunting, and it may not be the life that you had envisioned or hoped for, but it is still a beautiful life. Perhaps it is even more special.

I chose to name my column “Bloom,” because …

“Sometimes when you’re in a dark place, you think you’ve been buried, but you’ve actually been planted.” – Christine Caine

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Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, BioNews, and are intended to spark discussion about issues pertaining to muscular dystrophy.

Prudence is a caregiver and loving mother to her two-year-old son, Alfie, who is affected with LAMA2-related muscular dystrophy. Prudence is married to Alfie’s dad, Rylan, and they all live together in Tamworth, NSW, Australia. Before Prudence became a mum she was a primary school teacher, but since Alfie’s diagnosis she has been immersing herself in trying to learn as much as she possibly can about LAMA2, raising awareness and educating others on what parenting a child with muscular dystrophy entails.
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Prudence is a caregiver and loving mother to her two-year-old son, Alfie, who is affected with LAMA2-related muscular dystrophy. Prudence is married to Alfie’s dad, Rylan, and they all live together in Tamworth, NSW, Australia. Before Prudence became a mum she was a primary school teacher, but since Alfie’s diagnosis she has been immersing herself in trying to learn as much as she possibly can about LAMA2, raising awareness and educating others on what parenting a child with muscular dystrophy entails.
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4 comments

  1. Karl Evans says:

    I, too, received a rough diagnosis as a newborn. The Doc took a look at me, watched and tested me for a few minutes, then said to my parents, “You must love him now, because he will probably not see his third birthday.” That was 81 years ago next month. He said he really did not know why, but he saw the signs. Then after 75 years I received the dX, Fukutin Limb Girdle Muscular Dystrophy, and its twin, Gelsolin (AGEL or GSN). I say twin because every person I have met who had FKTN also tested positive for AGel, but never one with FKTN but NOT AGEL. But I have had a good life. Worked hard on the farm, played, coached and officiated football 16 years, backpacked around Idaho and Oregon, drove truck, pastored churches, traveled to all 48 contiguous states, and have 4 children, 10 grandchildren and 17 grandchildren. This includes 2 Marines, 6 Navy, 1 Army. I have a BA/BS, Master’s, Doctorate. EMT firefighter for 11 years. So one must not give up life on the basis of a dire diagnosis. You just have to keep trying to make life in this creation a little better.

    • Read your story with interest – I have several patients with FKRP related muscle disease and none with FKTN so far. None of my FKP patients have been able to stay on corticosteroids, and I am wondering if you had occasion to try and how that worked out if so. I had never heard of the relationship with gelsolin amyloidosis and so am trying to look it up now. Probably more to the point – I have met 40+ and 50+ year old folks who were incorrectly told they would be short-timers, and also several who had an unknown diagnosis until better genetic testing came along, but an 81 year old is a new story for me!! Thank you so much for sharing.

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