Jacob is 9 years old and lives with mum Amanda and dad Dennis in the USA. Mum Amanda says, ‘it is so hard to believe that Jacob is approaching his 10th birthday. Our little boy is growing up and he acts every bit like the pre-adolescent he is becoming’. Currently in third grade, Amanda describes Jacob as very tech savvy, utilising these skills to help him at school and at home, from communicating to reading to completing homework to playing games and listening to music. Below Amanda writes more about Jacob.

What form of CNM/MTM does Jacob have?

Jacob has the x-linked form of myotubular myopathy.

When did Jacob first get diagnosed?

He was diagnosed at 8 days old.

What symptoms prompted Jacob’s diagnosis?

When Jacob was born, he was described as ‘floppy’ and was in respiratory distress. Initially, his condition was attributed to his traumatic birth; however, after a few days of no improvement, my husband and I were questioned about any family history of neuromuscular disease. We immediately knew what we were dealing with because I have a significant family history of myotubular myopathy.

How long did it take to get a diagnosis?

We received Jacob’s diagnosis 8 days after Jacob was born.

How was Jacob diagnosed?

A muscle biopsy was done when Jacob was 5 days old.

What impact did the diagnosis have on you?

It is difficult to explain the full impact that Jacob’s diagnosis has had on us. We were immediately immersed in a world we never imagine existed, let alone imagined we would ever be a part of. As new parents, we wanted to hold our baby and protect him. Instead, we had to sign consent for operations to save his life. Our perspective on what is important in this life has been forever altered.

What are Jacob’s current symptoms?

Jacob exhibits the classic symptoms of XLMTM. He has very low muscle tone and uses a ventilator via tracheostomy to help him breath and a gastrostomy tube for nutrition. Also, he uses a power wheelchair for mobility.

Have you explained CNM/MTM to family members and what was their reaction?

Dennis, Jacob, and I have the most supportive, accepting, and understanding extended family. As I said before, MTM was familiar to my family, so there were really no surprises. We were able to garner crucial advice about medical decisions from my maternal aunt, whose son was also affected by XLMTM.

What implications do you think it has it had on your family?

Jacob was the first and only child for Dennis and me. I believe our (nuclear and extended) family was brought closer together by Jacob’s diagnosis and the surrounding circumstances. All of our decisions became focused on what was best for Jacob and how we could give him the best possible life. Dennis and I moved back to our hometown to surround ourselves with family.

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