Northern Trust leads the way with NI’s first clinic for paediatric genetic condition

Specialist Nurse Julie Donnelly and Dr Beckett from the Northern Trust’s Familial Hypercholesterolaemia (FH) Paediatric Clinic, which provides a specialist service for children newly diagnosed with FH.

A new specialist clinic in Northern Ireland is changing the outlook for children born with a hidden but potentially life-threatening genetic condition — offering families earlier answers, expert support and a clearer path forward.

The Northern Health and Social Care Trust has launched Northern Ireland’s first dedicated paediatric clinic for familial hypercholesterolaemia (FH), an inherited disorder caused by an altered gene that leads to high cholesterol.

FH is one of the most common genetic conditions worldwide. It is linked to a significantly higher risk of very early cardiovascular disease, with as many as one in 250 people carrying the altered gene responsible.

For families, the stakes are personal. Babies born to a parent with FH have a one in two chance of inheriting the condition. Medical guidance recommends children at risk are tested as early as possible — ideally before their 10th birthday.

The new clinic has been established to support early diagnosis and provide specialist care for children who test positive. By intervening sooner, clinicians aim to reduce long-term health risks and improve outcomes.

FH Specialist Nurse Julie Donnelly explained the significance of the service:

“We are delighted to have a specialist FH paediatric clinic for children who test positive for FH and their carers, providing support from our multidisciplinary team within a child friendly environment.

“It is important to detect FH early, as treatment is very effective at reducing cholesterol levels and, in turn, decreasing the chance of developing cardiovascular disease.”

Treatment for FH can successfully lower cholesterol levels, helping to prevent the development of cardiovascular disease later in life. Early detection is therefore critical.

Since the clinic opened, parents have described the service as transformative.

One parent said:

“I feel this clinic has really helped my son understand his health concern. The staff are extremely friendly and helpful, always answering any queries we may have.”

Another added:

“I appreciate all the support from Mrs Julie Donnelly, FH nurse, and Dr Beckett, who is always very supportive and on the ball with all tests. Even if I’m concerned and need advice, I always get professional support. I think it is brilliant that the FH clinic is on and supports families with this genetic disease—thanks very much.”

Families have also highlighted the practical guidance offered following diagnosis:

“The Familial Hypercholesterolaemia clinic has been a great support for my son and my family since diagnosis. They have been essential in advising us on what to do for my son with his diet, lifestyle and medication.”

And another parent said:

“Nurse Julie Donnelly has been so helpful if we have any questions or worries about anything. She explains everything so well.”

The Trust is encouraging parents who believe their child could be at risk of FH to contact their GP as early as possible to discuss next steps and whether a specialist referral may be required.

With early detection proven to make a measurable difference, the new clinic marks a significant step forward in safeguarding the long-term heart health of children across Northern Ireland — turning what can be an overwhelming diagnosis into a condition that can be actively managed from the earliest years.