Children forced to wait more than three years for genetics treatment

Rebecca O'Riordan with her two-year-old daughter Emmy at their home in Douglas, Cork. Emmy has spent much of her life in Cork University Hospital, Temple Street and Crumlin hospitals.
Picture: David Keane.

Almost 200 children have been waiting over three years for genetics treatment here and the lists look set to grow due to staff shortages at the only hospital offering this service.

Altogether there were 2,747 children waiting for genetics services up to mid-August in Children’s Health Ireland at Crumlin.

Shortages of specialist doctors is a huge challenge for families, with just three consultants available, according to Vicky McGrath, chief executive of Rare Diseases Ireland.

An estimated 300,000 people live with a rare disease, but she said access to counselling and in some cases even to a diagnosis is extremely limited.

Data provided by the hospital shows there were 178 children waiting 3-4 years for a routine or semi-urgent appointment as of mid-August. A further 569 had waited 2-3 years, and 686 for 1-2 years. Another 520 children were waiting six to 12 months by then.

There were 457 children waiting three to six months including two children marked urgent. Another 337 children were waiting up to three months including seven needing urgent care.

A hospital spokeswoman said: “There is a reduction in activity for 2021 which is attributed to a consultant being on long-term unplanned leave and a consultant who has retired in genetics, in addition to the impact of the Covid-19 pandemic and the recent cyberattack.” 

She said a temporary locum doctor has been hired. Between January and July the team saw 2,169 patients or family members for counselling.

A HSE spokeswoman said funding was approved for seven consultant roles nationally but only one junior doctor is in training for this speciality.

In limbo

Laura Egan, chair of another charity, Rare Ireland, said it supports over 1,000 families and many are in limbo without information on their child’s condition.

“You don’t need necessarily a genetic consultant to do genetic testing, but you do need them to interpret the results,” she said.

  “You need to know how a condition is potentially going to affect your child in order to have an appropriate care pathway.” 

In Cork Rebecca O’ Riordan said her daughter was referred for testing in December 2019, and waited until June 2021 for an appointment.

“In many other countries if you need genetic testing you get it at six months, for us it took three referrals and a lot of advocacy to be seen,” she said.

Aged just over two, Emmy has spent much of her life in Cork University Hospital, Temple Street and Crumlin hospitals.

“There’s a lack of community without a diagnosis,” Ms O’ Riordan said, adding that a diagnosis means "it’s not so scary because all of these other people have been through it, they have walked in your shoes". 

Doctors have confirmed Emmy has epilepsy, but so far can only say she also has developmental delays. The family is waiting on further research.

Ms O’ Riordan said a diagnosis would help access help, adding: “You can’t use the same parenting methods with a two-year-old who understands what you’re saying as with a two-year old who doesn’t understand what you are saying.” 

She said in her experience accessing HSE services requires a specific diagnosis. “We just felt really alone,” she said of the past few years.