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    Spinal Muscular Atrophy

    This page features all our blog posts tagged with ‘Spinal Muscular Atrophy’.

    Inspiring Mother of the Year

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    Categories: Baby Health Tags: ,

    Last week a post popped up on my Facebook newsfeed from a lady called Demet Taylor requesting breast milk for her baby daughter, Melina who is terminally ill with SMA1 (Spinal Muscular Atrophy Type 1). In the post, she shared the Melina Little Mermaid page she had set up for her baby and to help raise awareness of SMA1

    https://www.facebook.com/Melina-little-Mermaid-322225577901055/?pnref=story

    I started reading about Melina and the journey that her mother, Demet and family have been through and I was absolutely in awe at the strength, positivity and sheer resilience of this woman, not to mention her love and devotion to her beautiful little girl Melina.

    Every year, as part of our Mother’s Day celebration of all mothers, we nominate one mother as the “Inspiring Mother of the Year” and this year we have chosen Demet. Ask any other mother and I’m sure we would all agree that the love we feel for our children is indescribable and even the mere thought of anything happening to our child is unbearable.

    Demet and her husband, Hugh, are living that reality in its most extreme form. At eight weeks, Melina was diagnosed with SMA1, a genetic muscular disease that is sadly, terminal. Most babies do not survive beyond two years and 80% die by the age of one. Melina is now just over 6 months. She spends most of her life with her parents at Helen’s House Hospice in Oxfordshire. She cannot move, has to be fed through a naso-gastric tube and has to breathe through a respirator. She cannot do anything and is completely reliant on her parents for everything. Yet she is the most beautiful little girl with the kindest eyes and a gorgeous smile that makes your heart melt.

    But despite the severity of Melina’s illness, Demet is truly inspirational and her positive outlook and her resolve to never give up hope is what makes her and mothers so amazing.

    The sacrifices (that don’t even feel like sacrifices), the sleepless nights, the wishes, hopes and dreams that you cradle for your children and the endless love that drives you, knowing there is nothing you would not do for your child. That is motherhood.

    I wanted to share Demet’s words from one of her posts that will give you an insight just how incredible she is and why we have nominated Demet as our ‘Inspiring Mother of the Year.’

    “Although she can’t move and can’t speak, grab your hair or jump into your arms or bite your nose, the deep look she gives you when she looks at you is enough to make your heart burst full of love. She does not only need me to do everything for her. I need her so much more. She is my strong side. I love her so much and I am the proudest mummy to have such a brave fighting and kind-hearted daughter with her beautiful auburn-coloured hair and her cheeky smile. Melina is a gift.”

    Those words are so humbling and you can simply feel the love. Love is what motherhood is about and today we celebrate each and every one of you and the love that you give to all your babies big and small.

    Love is also what produces miracles and we continue to hope and pray for a miracle for Melina Little Mermaid.

    At Demet’s request we have made a £200 donation to SMA Support UK, a charity organisation, which provides information and support to those families and individuals affected by SMA. To find out more information visit: http://www.smasupportuk.org.uk

    To support Demet’s mission to raise awareness regarding SMA1 we have put together this page that provides an overview of the condition. Please click here to read more about SMA1.

    Raising awareness of SMA1

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    Categories: Baby Health Tags:

    An overview of SMA – Spinal Muscular Atrophy

    Source: http://www.smasupportuk.org.uk

    • In the UK, approximately 100 children are born with this rare disease each year.
    • One in every 6,000 – 10,000 babies are born with the condition.
    • At any one time it is thought that there are between 2,000 – 2,500 children and adults in the UK living with SMA.
    • How do people get SMA?
    • SMA is an autosomal recessive genetically inherited neuromuscular disease. This means that two faulty copies of the disease gene, one from each parent, are needed for a person to have the condition.
    • When two SMA carriers have a child together, there is a 1 in 4 (25 %) chance that the child will have inherited both faulty copies of the SMN1 gene and will develop SMA. These chances are the same for each pregnancy.
    • When two SMA carriers have a child together, there is a 1 in 2 (50 %) chance that the child will be a carrier. Approximately one in 40 – 60 people is an SMA carrier, which equates to about 1.5 million people in the UK.
    • What is SMA1?
    • SMA Type 1 is the most severe form of SMA. It accounts for between 50 – 70% of cases of childhood onset SMA. It is sometimes called Werdnig-Hoffman Disease or severe infantile SMA.
    • Each baby with SMA Type 1 is different. The symptoms of SMA Type 1 usually appear within the first few months of life.
    • At present there is no cure for SMA, and no treatment that will repair the damage to the lower motor neurons or reverse the weakening of the muscles. However there is a range of options aimed at managing symptoms, reducing complications of weakness and maintaining the best quality of life for as long as possible.
    • What are the effects of SMA Type 1?
    • The following describes the effects of SMA Type 1 in general terms. But, it’s important to remember that each child with SMA Type 1 is affected differently and the severity of the condition varies from child to child.
    • Babies with SMA Type 1 are often described as ‘floppy’ babies, due to their low muscle tone (hypotonia) and severe muscle weakness. The muscle weakness affects movement, swallowing and breathing. Babies with SMA Type 1 are unable to lift their heads, have difficulty rolling over and are unable to sit unsupported. They may also have a weak cry.
    • Children’s muscle weakness is usually the same on both sides of their body (symmetrical). The muscles closest to the centre of their body (proximal muscles) are usually more severely affected than the muscles furthest away from the centre of their body (distal muscles). Generally, babies with SMA Type 1 have weaker legs than arms. Babies have difficulty lifting their arms and legs, while still being able to use their hands and fingers.
    • Weakness of the respiratory muscles can cause severe difficulties with breathing and coughing. It can also increase the chance of respiratory infections, which can be life-threatening.
    • The muscles used for sucking and swallowing are also affected and this may cause difficulty with feeding and weight gain. Difficulty with swallowing can increase the risk of fluids or food passing into the lungs (aspiration), which can cause choking and, in some cases, pneumonia.
    • The brain is unaffected and babies affected by SMA Type 1 are often described as bright, alert and responsive. The muscles of the face are not usually affected so babies can smile and frown.
    • Though it is not possible to accurately predict, for the majority of children (approximately 95%) life expectancy is less than 18 months.

    Read Melina’s story