As you all know I’m very passionate about awareness of Spinal Muscular Atrophy (SMA), a devastating motor neurone disease, which in most cases is fatal before the age of 2. 1 in 40 people carries the defective gene (mostly unknowingly) for SMA and when 2 people who both carry the defective gene have children there is a 25% chance in every pregnancy that the baby will have SMA. My 13 month old daughter has SMA and although I was concerned from shortly after her birth, by the time she was diagnosed at 8 months of age, she was too old to participate in the current clinical trials (that don’t take participants after 7 months of age) which may have halted and reversed her condition and potentially saved her life.

I hope that by discussing the symptoms and making people aware with our story, that other babies may be diagnosed early and be able to access the potentially life saving treatments which we weren’t able to access for our own daughter.

The symptoms of SMA in Helena’s case were: a lack of the stepping or walking reflex (moro reflex), inability to put any pressure on her legs, floppy legs that flopped downwards when help in a superman like position, not drawing her legs up off the ground or kicking them despite being able to fully move her ankles and toes. Later she developed symptoms of intermittent loss of head control and weakness in her arms. She never gained the ability to sit unsupported. Other symptoms include: excessive dribbling, a weak cry, choking whilst feeding, tummy breathing, a bell shaped chest, there can be reduced foetal movements towards the end of pregnancy, a floppy baby, not gaining the ability to support their head, not gaining ability to roll or sit unsupported, being mucousy or having a cold that doesn’t improve, arm and leg weakness, inability to lift head during tummy time, tongue tremors, difficulty regulating body temperature – may shiver or be very sweaty, frog shaped legs that flop outwards, nostrils flaring during breathing, wrist drop and symptom progression, not all these symptoms may be present initially.

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3 Responses to “

  • Anita and mark
    2 years ago

    Hi you too just let us know if we can help in anyway I have share the information with all my Facebook friends and sighed the pretition

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