News & Events

Brave like a lion: Tilly

Last Reviewed 18/04/2019

By Swan UK Member: Hana Young

Hi, I’m Hana. I live in Hampshire with my two children Tilly (six), Arlo (four) and our dog Bodhi. In January 2018, aged five, Tilly was diagnosed via the 100,000 genome project with the rare metabolic disorder guanidinoacetate methyltransferase deficiency, or GAMT for short.

I realised life was going to be different for Tilly very early on. She developed normally as a newborn, but began to stop meeting her milestones by about six months old, and then slowly began to regress. Skills she previously had would disappear overnight. She could no longer babble and had to relearn to walk multiple times.

I blamed myself, I felt like I was failing my baby.

Failure to thrive turned into ‘mild global developmental delay’, and eventually ‘severe global developmental delay’. Uncontrollable epilepsy reared its head in early 2016 and it was an overwhelmingly lonely and scary time. Tilly fought her brain every single day to achieve skills and would then lose them soon after. It was really hard but still she fought on. Life became a whirlwind of appointments, EEGs, admissions, referrals, medications and muttered mentions of horrible conditions it ‘could’ be. She became very violent, very angry and couldn’t bear to be anywhere near me.

Treatment was difficult at first, as her brain woke up after years of being continuously attacked by her condition and she really struggled to adapt. Slowly but surely my daughter who had spent the last few years very trapped inside her brain came back to me. Her epilepsy has almost disappeared.

Tilly shows courage every day. She works hard to overcome her condition and takes her foul tasting supplements without protest five times a day. She is the most resilient person I know. Her younger brother Arlo is also a superstar. He has taken on the role of big little brother beautifully. He tells me he would like to be a neurologist to help poorly brains like his sister’s.

SWAN UK kept me going during the darkest years of my life. When I felt completely alone and totally out of my depth, they lifted me up and kept me going. They gave me courage and helped me to push for answers, introduced me to the genome project and helped me to feel less alone in the scary world of being undiagnosed.

I don’t know how I would’ve survived that dark time without having the support and solidarity of fellow SWAN UK parents.

I have been able to attend events and have met other parents in a similar boat to myself. Tilly is a graduate swan now – the title given to swans who have received a diagnosis.

Having a child with a rare disease is incredibly difficult at times. I have had to come to terms with the fact that if screened early, her condition is treatable and preventable from birth. I will endeavour to ensure all babies are screened for her condition one day and SWAN UK have given me the courage to pursue that.

Diagnosis has saved my child.

Her brain is now free to develop, she’s learning new skills every single day and is a completely different child. She is the most content and chilled out child you could ever meet. It is nothing short of a miracle. I feel optimistic and excited for the future now that my child has the best possible chance in life thanks to her diagnosis.

TO READ HANA’S BLOG VISIT: MAMAUNEXPECTED.COM.

WOULD YOU LIKE TO SHARE YOUR STORY AND HELP RAISE AWARENESS OF UNDIAGNOSED GENETIC CONDITIONS?

EMAIL: [email protected].

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