THE family of a baby girl have spoken of their “heartbreak and devastation” after she was diagnosed with a rare genetic condition.
When Summer Morton welcomed her daughter Tilly into the world, she initially appeared to be healthy.
It was around eight weeks later that early symptoms began – including a vibrating tongue, slow movements, and fatigue.
Looking back at the warning signs, grandma Kirsty Kenny said: “She was very floppy, struggled to lift her head up, non-weight bearing on her legs, bath times she would not move her limbs, her cry and sneezing became weak, she started to choke a lot – mainly on her saliva.
Kirsty, Summer, and Tilly, pictured together (Image: Family handout) “She’d start to gasp for air when you would pick her up and started to become fussy and struggle with her feeds.
“I had a gut instinct that this was more than slow at developing.”
The family, from the BD4 area of the city, reached out to Tilly’s health visitor and later attended a GP appointment.
The doctor examined her and agreed that Tilly was very floppy and had a head lag.
The case was referred to a paediatric consultant, where the family finally got answers on June 17.
Summer and Tilly, pictured together (Image: Family handout) “This is the day our world shattered,” said Kirsty.
“She said she has high suspicions that Tilly has something called spinal muscular atrophy (SMA) and feels she has the more severe type, that being type 1.
“She was going to make some phone calls and arrange genetic testing.
“Heartbroken and devastated, it actually felt like someone had died, our hearts were ripped out.
Tilly, pictured together (Image: Family handout) “That same day around tea time we received a phone call from the same consultant advising us to go to BRI for Tilly to be admitted for observation and genetic blood works the following day.”
An overnight stay turned into Tilly being transferred to the Leeds General Infirmary neurology ward for further tests and genetic results.
The same week, Tilly was given a videofluoroscopy – which analyses the way someone swallows – which showed she had an unsafe swallow.
A week later, results confirmed Tilly does have the type 1 case of the genetic disease.
It was a surprise to Kirsty, who had never heard of it despite working in healthcare.
The grandmother said: “At the moment of being delivered this news, we were numb but in a weird sense glad we had an answer and diagnosis to plan moving forward.
“Historically, most children with SMA type 1 sadly would not make it past two years of age. “Sadly, there’s no cure for this genetic disease, but thankfully there’s now three treatments available to slow down disease progression and in some cases, stop it in its tracks.”
The family can also try other interventions such as ventilators, cough assist suction machines, and therapies such as physio and hydrotherapy.
Tilly, pictured (Image: Family handout) “We have hope to keep Tilly with us fighting strong,” said Kirsty.
She used many words to describe how the family are feeling – “heartbroken, devastated, in shock, angry, grieving, numb, lots of emotions”.
At the same time as the life-altering news, Summer was sitting her GCSE exams.
Her mum said she was “immensely proud” of her daughter.
Kirsty said: “She’s managed to remain strong and positive for her daughter. Summer is only 16 herself and managed to juggle becoming a mum so young, completing her GCSEs, passing them all as well as coming to terms and dealing with Tilly’s diagnosis.”
SMA type 1 is among the genetic conditions not tested for in the UK.
The family would like to see a future where all babies are tested for SMA.
Little Tilly sleeping (Image: Family handout) Tilly’s journey with SMA type one started with a medication called risdiplam.
She has been receiving gene therapy at Manchester Children’s Hospital and is currently in isolation due to being on a high dose of steroids.
“It’s too early to determine how effective gene therapy is and even how long it will last now due to her neurons already dying,” said Kirsty.
She also undergoes weekly check-ups and bloods with her local neuromuscular team.
Fundraiser day
Tilly’s great aunties Kelly and Stacey are now organising a family fun day at East Bierley Cricket Club on September 14.
All the funds raised will go towards Tilly’s physio and hydrotherapy sessions and allow her to purchase any equipment to help her live comfortably as she grows.
Kirsty said: “Tilly is a very happy, smiley baby. She finds hospital appointments, especially her bloods, very traumatic.
“She also has daily battles with her machines which again is heartbreaking to see but she needs these in order to fight this battle.
“She is starting to get frustrated with herself as she is unable to move her body. We have to do most things for her. It’s truly devastating.
“Our everyday life revolves around Tilly’s medical care and needs.
“I’m currently off work to help Summer navigate life with a medically complex child and adapt to our ‘new normal’ now.”