Baby's early diagnosis with life-limiting condition a 'double edged sword' for parents

Couple Bethany and Rob gaze at their blue-eyed baby, Teddy, on the sofa in their home near Belfast's Shankill Road.

Teddy, their first and only child, was born the day after Valentines Day, and Cupid's arrow certainly hit the new parents hard.

They are simply besotted with him and say they love his little smile, nosey nature and impressive appetite. 'Nana and Papa' live together with the young couple and are also obsessed.

Looming over them all though, is the fear that Teddy has a lot of pain in store in the future, as he has been diagnosed with the rare Duchenne Muscular Dystrophy.

It is a degenerative and life-limiting condition, which only boys suffer from.

In Northern Ireland, there are around 50 little boys who have it.

They will typically require a wheelchair, and many do not live long beyond their teenage years.

Most families fundraise in order to travel to the US or England to access very expensive care that is not yet available here.

Rob and Bethany found out that Teddy had the condition while she was still pregnant.

This early diagnosis is, for them, a "double-edged sword".

"The whole world stopped," recalled Bethany, reliving the moment when the Sister told her over the phone of Teddy's condition.

Since then, they have vowed to be positive for their son and commit themselves to ensuring they can provide the best care for him when his muscles inevitably start to deteriorate.

"We're fighting for Teddy because that's all we can do," said Rob.

"It's grim knowing that a little baby has this horrible, cruel disease, but on the other hand, we're thankful in a way, because we do know early and a lot of families don't have that - they haven't heard until a lot until a lot later.

"And we're hopeful that because he is so young, we have enough time to do something. You know, we have more time.

"And perhaps that means he may be eligible for treatments that if he was older, we found out and perhaps wouldn't be able to provide him that opportunity."

Aside from medical advancements, this time also affords them more opportunity to start raising money on gofundme for their little boy before such times as he needs the money for life-changing care, potentially abroad.

There is treatment available here at a regional hub in the Belfast Trust, although many choose to fly away for specialised trials and treatments not available here.

A spokesperson for the Trust explained that patients with Duchenne Muscular Dystrophy are seen by neuromuscular team, consisting of a neurologist, physiotherapist and neuromuscular specialist nurse, at a clinic in Belfast City Hospital.

They also said that the children will be seen by a number of other specialists including respiratory physicians, cardiologists, physiotherapists, occupational therapists in addition to spinal surgeons and orthopaedic surgeons over the course of their childhood.

I asked the Department of Health if it is likely that any new treatments will be commissioned locally.

A statement said that based on new advice, another treatment became available in Febrary.

"The Department of Health in Northern Ireland (DoH) has a formal link with the NICE under which treatments are reviewed locally for their applicability to Northern Ireland and, where found to be applicable, are endorsed by the DoH for implementation within Health and Social Care (HSC)," the reply said.

"Within this policy context, a wide range of new and innovative treatments are routinely commissioned for use in Northern Ireland via the SPPG Managed Entry of New Medicines process. This process enables patients to access treatment in advance of the final publication by NICE. In the absence of a decision by NICE, the Department may adopt decisions from other UK technology appraisal bodies e.g. Scottish Medicines Consortium (SMC).

"The Department notes that NICE published on HST22 on 22 February 2023 which recommends ataluren (Translarna) for Duchenne muscular dystrophy with a nonsense mutation in the dystrophin gene in people 2 years and over who can walk on 22 February 2023, which is now an available treatment option in NI."

Want a quick and expert briefing on the biggest news stories? Listen to our latest podcasts to find out What You Need To Know.