at Monkey World, Dorset. We were given a care plan that gave us open access to .... Telephone: 01789 801155 Email: info@
SMA
Stories
Dedicated to finding a cure and treatments for Spinal Muscular Atrophy
ROWAN Rowan’s early months Rowan was born 2 weeks early in May 2011 weighing a tiny but healthy 5 pounds 6oz, she was my first baby, I had had a great uncomplicated pregnancy swimming a mile the day before I gave birth and running up until I was 20 weeks pregnant giving birth with no problems in a birthing pool in our local hospital. We went home the following day looking forward to getting to know each other. I had quite a few friends who were also pregnant and due around the same time so was keen to join mother and baby clubs and enjoy my maternity leave with Rowan.
Early symptoms and diagnosis All mums are told to not compare their babies in terms of sleeping, feeding and development but it was just this that led me to have concerns about Rowan’s development. It was when Rowan was 6 months old and I was discussing weaning with our health visitor, that I commented that I couldn’t give her foods to hold and experiment with as she didn’t reach out or grab anything. At that point I was told that each baby developed differently and my concerns were dismissed. Only when bringing it up numerous times and noting that Rowan had still not rolled over nor made any attempt to sit up unsupported was I finally listened to and we were referred to the local hospital. Unfortunately, Rowan was misdiagnosed at the first hospital as having hypotonia (muscle weakness), we were told that with intense physio therapy she would catch up with her peers. Something did not sit right with me, call it mothers intuition but I sought more information and a second opinion. After scans, x-rays and genetic blood tests at 10 months old Rowan was diagnosed as having Spinal Muscular Atrophy. Further discussions at a more specialised hospital confirmed that she was a strong type 1 as she hadn’t had any respiratory issues, was a healthy weight, eating and wasn’t experiencing any swallowing difficulties. The medical professionals labeled Rowan as a type 1b.
Ro wan
How it affected her and her family Life after diagnosis went on quite normally for Rowan, we tried to put a brave face on life for her, we had been told that babies that have type 1 SMA rarely live beyond their first birthday so with Rowan been 10 months old we didn’t know how much time we had with her but would treasure every second. But at that moment in time she was healthy we continued on as ‘normal’ Rowan was awarded high rate disability living allowance which enabled me to go back to work 3 days a week instead of the originally planned 4. She went to nursery which she loved and family
The child of two carriers has a one in four chance of developing SMA
looked after her on the other days. We went on holidays to Filey and to London to watch the Paralympics as well as going to see her favorite animals at Monkey World, Dorset. We were given a care plan that gave us open access to the local children’s ward for quick intervention if Rowan was to have a chest infection or other complications.
Treatments tried to alleviate her condition As I found out more about SMA and we had input from our local respiratory and physio team. Our routine was set – several daily sessions of muscle and chest physio which we always tried to make fun, my main aim was to avoid Rowan been tube fed, there was something about this that told me we were giving into SMA.
Rowan
Rowan was taken in to hospital in June 2012 after deteriorating quickly at home, it was such a scary experience seeing my girl so weak and helpless and me not been able to do anything for her. We were told that she had pneumonia and part of her left lung had collapsed, she stayed in hospital for 11 days on antibiotics and oxygen. We came home after this but not alone...we now came part parcel with a feeding pump, tubes and a suctioning machine which we named Nu Nu. Rowan had lost some of her ability to swallow so to maintain her health this was the only option. It was a steep learning curve for us as a family and for nursery but everyone was more than willing to learn. This marked the start of a lot of intervention from a whole host of services. The local OT organised a special bed for Rowan and a special chair that would fully support her. We also fundraised to buy her a P Pod so she could relax at home and a second wheel chair for nursery. Rowan bounced back so we had to too, back to our ‘normal’ we went.
Things didn’t come without complications though and she aspirated on her feed, this is when doctors told us that there was nothing more they could do expect for ventilate her and go through the whole process again. The hospital mentioned transferring us to the local children’s hospice for end of life care, heartbreakingly we agreed to this and moved to Bluebell Wood Children’s Hospice. Here we prepared to say goodbye and removed all her breathing assistance. Rowan triumphed proving every doctor wrong, she even splashed her little legs in a bath at Bluebell that day. Each moment was taken for what it was – extra time with our special girl. We spent 2 weeks at Bluebell and then went home. Neither myself or my husband went back to work (our normal) at that time. We enjoyed an extra 6 weeks with Rowan at home then one beautifully bright morning after an unsettled night I knew this was the day. Later that afternoon Rowan took her final breath whilst holding my finger. She passed away peacefully at home full of love at 18 months old.
Life without Rowan Life without Rowan is hard, it’s like a constant piece of me is missing. For just under a year I was constantly fighting for her; for equipment, appointments a diagnosis. So many people entered our lives to offer support, treatments and therapies, then it all stopped. Not only did I lose my daughter but I lost a big part of my confidence.
Towards the end Rowan became poorly again in September 2012 this time we acted quickly, we knew the signs. Rowans oxygen levels were so low and medical professionals so concerned she was ventilated and transferred to our closest children’s hospital. Doctors always prepared us for the worst, every day was bad news and a bigger battle for our beautiful girl. The biggest battle was taking her off the ventilator to change to a non-invasive one, Rowan took this all in her stride and shocked all the doctors.
1 in every 6,000 births is affected by SMA
Rowa n an d Mu m Sa rah
Fundraising and working for The SMA Trust A big distraction for me has come from fundraising. Our first donation was made to The SMA Trust instead of buying the presents we should have been getting Rowan for her second Christmas. To this date we have had so much support from family and friends. People giving up booze, running, swimming, cycling, carrying surf boards over the Yorkshire 3 peaks. Over £65,000 has been raised in memory of Rowan and that amount continues to grow, our big event for 2016 is my other half taking on the London Marathon.
Ma tt, Rowan & Sar ah
In June 2015 I started working part time for The SMA Trust primarily looking after the trusts social media sites. My role has now evolved into also looking after some of our fundraisers and third party events. I really enjoy my job knowing that the fundraisers I support are raising money to find a cure and treatments for SMA to help stop other families going through what mine did. As Rowan had a deletion of both exon 7 and 8 resulting in SMA, my husband and I knew it was almost certain that we were both carriers which was confirmed a few months after Rowan passed away. We always knew that having another baby would come with its own risks. Which is why we are very pleased to have Ember (now 2) who was tested prenatally for SMA and confirmed to be a carrier. Ember already knows who her sister is, we say good morning to her photos every day. I’m sure one day she will proudly be doing her own fundraising in memory of her beautiful brave sister. By Sarah Poole
get involved Find out how you can help us fund vital research to find a cure and treatments for SMA by visiting www.smatrust.org or calling us on 01789 801155. The SMA Trust 1c Atherstone Barns, Atherstone on Stour, Stratford-upon-Avon, Warwickshire CV37 8NE Telephone: 01789 801155 Email:
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