Published: 10:23, 11 July 2018
| Updated: 14:36, 11 July 2018
Parents, wanting to savour the years their "cuddle monster" son is physically able to hug them back, have launched a fundraising campaign.
Two-year-old Digby Donnelly has a progressive and fatal muscle-wasting condition called Duchenne Muscular Dystrophy (DMD).
The disease almost exclusively affects boys due to a faulty dystrophin gene which causes muscles to break down, leading to paralysis and consequently a lifespan of about 20 years.
News of his diagnoses last August was "totally and utterly devastating" for his parents Lisa and Steve Donnelly, of Middle Deal Road in Deal.
But they are determined not to let the disease ravage their boy, which is why they have launched Digby's Smile - a campaign to raise awareness and pay for specialist equipment as and when it's needed.
Mrs Donnelly said: "We’ve taken great pleasure watching Digby develop into the amazing boy he is today but now we must prepare ourselves for his steady decline.
"The worst part is knowing that his struggles will increase and his body will begin to waste away and all the while it feels we are powerless to help.
"We always wanted a quiet family life and have never felt comfortable asking for anything, but now is not the time to be proud."
Digby was born a happy and seemingly healthy baby at The QEQM Hospital in Margate in August 2015.
It was only through his elder sister Matisse's diagnosis of DMD in 2017 and subsequent family testing, that it was found he also has the disease. It's particularly rare that two of the couple's children have it when only 2,500 people in the UK live with the condition and neither parent is a carrier.
Matisse and Digby's diagnosis came six days apart. But in girls, it is less serious, rarely fatal and usually without symptom.
Mrs Donnelly said: "Matisse does experience muscle aches and pains so is classed as a ‘manifesting carrier’ of DMD. It's something which will need to be considered should she choose to start a family in later life. We try to manage her symptoms as best we can, taking each day as it comes."
The pair spent a lot of time reading articles online, participating in DMD support groups and trying day-to-day to make sense of the disease, before enlisting Digby to take part in a clinical trial.
Within a day of giving consent, the tot began screening tests and was found to be a match for the trial beginning in December 2017.
Now in Week 32 of 102, Mrs Donnelly, who has given up part-time work to manager her son's health, travels with Digby and his bag of favourite toy cars to Great Ormond Street Hospital, London, for an overnight stay once a week.
He is the youngest of three boys in the UK and six worldwide receiving the infusion of new drug Eteplirsen via a port, which is hoped to slow down the effects of the disease, giving him more years of mobility.
Mrs Donnelly said: "Steve and I made a decision early on that we could hide away and cry and accept this terrible fate, or we could fight. We just have to do whatever we can to find a treatment and a cure.
"Digby loves cuddles and kisses. He's a cuddle monster but when he's 16 he won't be able to cuddle me back and that's what hurts.
"Digby and all his fellow DMD boys are facing a ticking clock. Their best hope is being able to treat them quickly before their muscles are damaged too badly."
Mr Donnelly, an operations manager for Pfizer based in Surrey, said: "We hope and pray that this, or any other drug, will be the one which makes the difference but the truth is, we don’t know.
"But if we don’t try, we'll regret it forever."
Digby's Smile is to raise vital funds for research, as well as ensure he has the fullest life he can.
A quiz night has already taken place at The King's Head in Deal raising £1,000 and a Guilty Pleasures disco in planned at Cin Cin's bar at a date to be confirmed in August.
Mrs Donnelly said: "We called it Digby's Smile because everyone picks up on his smile. His smile is him.
"When he's in hospital and going through difficulty, we want to keep him smiling. That's the essence of it."
Mr Donnelly said: "From the outside looking in, he’s just a normal care free child, but his delayed speech, cute waddle and more frequent falls are a sign of how his day-to-day life is beginning to change.
"It’s incomprehensible that within a few years he will be severely incapacitated."
Digby will soon need a bespoke helmet to protect him when he falls over and will eventually need a specialist wheelchair plus home adaptations.
To help Digby by hosting an event, contact his parents on 07968 439638 or email firstname.lastname@example.org
Duchenne Muscular Dystrophy (DMD):
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