Wednesday 28th February 2018
Trekking for Tilly
To mark Rare Disease Day 2018, we are honoured to share Tilly’s story as told by her parents, Ashleigh and Scott who will be trekking the Highest Peak in the Alps in September to fundraise for Glasgow Children’s Hospital Charity.
“When your child has a rare disease, it is scary, overwhelming and sometimes very lonely.
Tilly is the best thing to have ever happened to me and my husband so we take every day as it comes. She always has a way of turning the worse day into one of laughs and smiles.
Tilly's Life With MSUD
Tilly has Maple Syrup Urine Disease (MSUD) - a metabolic condition meaning that Tilly does not have the ability to break down protein.
While protein is essential to most people, it is extremely dangerous to Tilly, creating a by-product which poisons her body. This makes her seriously ill to the extent that it can cause brain damage.
Spikes in Tilly's protein levels aren't just triggered by her diet. Factors such as growth spurts, or catching the cold can also have a dangerous impact on her health.
Quite simply, MSUD is Tilly’s life. It dictates everything that she does and anything that we plan for her. At present it is monitored by a restricted diet, blood tests twice a week, regular trips to the hospital and still being fed every 3-4 hours, even through the night.
We are also in the process of discussing a liver transplant for Tilly which we hope will allow her to be more independent when she grows up.
Tilly is almost 10 months old. She’s really coming into her own now and is almost walking. She loves the classes she goes to with her friends - her favourite is her sing and sign class. She also love walks with her dog Bella and over nights at her Nanny’s, Gran’s and Grandad’s houses.
We are still finding our feet with all the help and support out there for us around Tilly's rare condition through the children’s hospital and the Office for Rare Conditions - funded by Glasgow Children's Hospital Charity.
When we’ve been in hospital with Tilly the support they have given us as parents is amazing. What the charity do for the kids is just great too bringing a smile to their little faces. Having someone brighten up their day, brightens up your day seeing your child smile.
Trekking Mont Blanc
We really felt the need to give something back. When your child is ill, the feeling of helplessness is overwhelming so fundraising is our way of trying to thank everyone from the Consultants to the lovely people who clean the rooms and pull funny faces at Tilly to make her laugh - it all matters to us.
We understand how frightening it can be for parents when their children are unwell and first taken into hospital. The feelings and thoughts that we went through on those first couple of days in hospital will never leave us.
We are slowly starting to train for the trek inbetween caring for Tilly, and our fundraising has gotten off to a good start!
We can't wait for September and are both looking forward to a full night’s sleep - even if it is up a mountain, making new friends and most of all giving the money we have raised over and seeing all the great work it will do."
Inspired to fundraise for our young patients? We're looking for more people to join our Kiltwalk team - could you join us?