Laois couple seek help for toddler diagnosed with rare genetic disorder

The baby of a young couple from Portarlington in Laois has been diagnosed with a "one in a billion" rare disorder that needs serious medical intervention.

Little girl Robyn Neville-Quinn is just one year old, the only child of Meagan and Adam, both 25, who now live in Belfast. 

Since her birth she has battled serious medical issues and now a diagnosis means she needs a bone marrow transplant.

The operation must be done by the NHS in London so the couple have gone public to reach out for financial support to help them take time off work and stay near their baby. 

Robyn’s grandmother Sabrina Moran who lives in Portarlington, spoke to the Leinster Express / Laois Live.

“Robyn keeps her best side out even when sick. It's been a very difficult journey since her birth. She has been in and out of hospital with bleeding problems, severe eczema and to get her weekly blood transfusions to keep her platelets up. She is at risk of picking up serious infections.

“Megan and Adam will have to travel to the UK for this life saving treatment. As a result Adam will have to take time off work and Meagan can't resume work either because of Robyn’s illness and frequent trips to the hospital.  Please read her journey, share and donate if you can.  We are forever grateful for the kindness so far,” Sabrina said.

An online fundraiser has been launched on GoFundMe called 'Robyn's Journey', organised by Pamela Quinn who explains the difficulties facing the young family.

"We are reaching out to you to support the family of Robyn Neville-Quinn.

"Robyn is an adorable one-year-old girl who has unfortunately been diagnosed with Wiskott-Aldrich Syndrome (WAS).

"WAS is a rare and life-threatening genetic disorder that primarily affects boys. For Robyn, a girl, to be diagnosed with this condition is incredibly rare, one in one billion."

"Since birth, Robyn has faced numerous health challenges; within her first few weeks of life, following countless visits to A&E for bleeding and severe eczema, it was discovered that Robyn's platelets were dangerously low, at just 5 (Normal platelet levels range between 150 and 450).

"To manage this, Robyn needed a central line inserted and weekly platelet transfusions to support her immune system. Because Robyn has a compromised immune system, she is at serious risk of developing infections.

"Although a medication introduced after her first birthday has helped her to produce more platelets, this treatment is not a permanent solution. Eventually, it will cease to be effective, making a bone marrow transplant essential to save her life."

Ms Quinn says that, due to the rarity of WAS and the complexity of the transplant, this procedure is not available in Ireland or Northern Ireland.

Therefore, Robyn and her parents, Meagan and Adam, must travel to Great Ormond Street Hospital in London.

"Meagan and Adam are a young couple, both only 25 years of age, who moved from Portarlington, County Laois, to Belfast and started their family. Robyn does not have any siblings.

"Unfortunately, she does not yet have a donor. However, as soon as her match is found, this life-saving operation can go ahead.

"The projected timescale for her operation, treatment, and recovery is six to 12 months, or possibly longer if any complications arise.

"Meagan and Adam will face significant financial pressure over the coming years; Meagan has been unable to return to work due to Robyn's illness, while Adam has needed to (and will continue to) need to take time off from work to travel to England and support his family during Robyn's transplant and recovery.

"Thankfully, Robyn's treatment will be covered by the NHS.

"Any money collected will go towards flights, accommodation, meals, and everyday costs during this time."

Ms Quinn concluded: "We would be so grateful if you could donate to this fundraiser in any way you can, and please share Robyn's Journey."

The fundraiser for Robyn can be accessed here.

As of the time of publication, the fundraiser has raised £3,655 (€4,288) of its £50,000 (€58,683.75) goal.