An Athlone family's experience of living with a rare condition

An Athlone woman has outlined how the lack of support available for parents of children and young adults living with rare conditions motivated her to help set up a support network for parents in that situation.

Laura Egan from Athlone and Louise O'Keeffe from Dublin, both of whom have daughters living with rare chromosome disorders, teamed up in March 2017 to establish the Rare Ireland support network.

As today (Sunday, February 28) is Global Rare Disease Day, Laura this week outlined the difficult and at times lonely journey which eventually resulted in her daughter, Alanna’s, diagnosis.

Born in October 2000, Alanna is the eldest of Laura and her husband Anthony’s three children.

"Despite being full term, she weighed just over 5lbs when she was born. She spent time in the special care baby unit because she had no suck reflex and required tube feeding," said Laura.

"Alanna’s weight gain progressed very slowly, and she failed to thrive for the first few years of her life. She didn't meet any of her developmental milestones and was described as having Global Developmental Delay.

"Her speech and language, and her gross and fine motor skills, were the biggest issues of concern, and from a young age she received intervention in these areas.

"Around the age of five, Alanna's paediatrician started to suspect that she was living with more than just developmental delay, and it was at this point we started looking for a diagnosis. We were sent for our first round of genetic testing and an MRI scan to check for any possible damage to her brain."

As all of her tests came back negative, Alanna was again described at this point as having unexplained developmental delay.

"At this time, she had several conditions and difficulties secondary to a syndrome that couldn’t be found, because it hadn't yet been discovered. When she started school, in 2006, we learned the extent of her intellectual disability, and in 2007 she was referred again to genetics to look for an explanation.

"With no social media, and no support networks, this was a very lonely and isolating time. In December 2010, with new advances in genetic testing in Ireland, we were once again referred for further tests.

"In April 2011 we were given the results and it was found that Alanna had a very rare condition which was later named Koolen-de Vries Syndrome (KDVS).

"Alanna is missing approximately five genes from the long arm of chromosome 17. The missing genes include the KANSL1 gene, which is vital for healthy development."

Laura said that, upon this diagnosis, the family was given no information because Alanna's paediatrician had never heard of KDVS.

"Until we were seen for a genetics appointment, six months later, we had to do our own research and educate ourselves on how this was potentially going to impact our family. In the ten years since her diagnosis this wait for a genetics appointment has escalated to up to three years for newly-diagnosed children."

Alanna is now 20 years of age and has a sister, Shannon (12) and a brother, Darragh (10). She is currently "doing well and living a very fulfilled life," her Mum said.

"She has several difficulties as a result of KDVS, the most challenging being her intellectual disability and severe generalised anxiety. She will continue to require support throughout her life but is very happy, kind, confident and outgoing. She loves to make people laugh and is loved by everyone who meets her."

The decision to set up Rare Ireland was prompted by the challenges the Egan family experienced directly after Alanna had been diagnosed.

"Alanna was the second person in Ireland to be diagnosed with KDVS, so even the genetics consultant had no information to give us," said Laura.

"Instead, she gave us an internet printout and contact details of an organisation in England in case we wanted to connect with other families. It was very disheartening to learn that there was no Irish organisation for families like ours.

"Over the next few years, I reached out to families all over the world and made several trips to the UK to meet other KDVS families. The need to do this is what prompted the establishment of Rare Ireland.

"In 2016, I met Louise, whose daughter, Ella, has a rare condition called Neurofibromatosis Microdeletion Syndrome. Louise had a very similar experience to me after receiving Ella’s diagnosis.

"Together we started to work on establishing a support network for families in the hope that the isolation and lack of information we faced would be lessened for future families faced with a rare diagnosis.

"We started as two and now have a committee of 12 mothers, 1,100 families in membership, and over 5,000 followers on social media. Our committee works very hard to raise awareness and offer support to our families.

"It has proven to be an invaluable source of support to families all over Ireland as we remain the only organisation in Ireland specifically supporting families affected by rare conditions. We have grown from strength to strength over the past 4 years and are very proud of the lovely rare community we have created in Ireland."

Most parents who receive a rare diagnosis for their child are hearing the name of the condition for the first time. Genetics counselling is offered to families to inform them of how this diagnosis will impact their child and the likelihood of it reoccurring in subsequent pregnancies, but for Irish families there can be a 2-3 year wait for this service.

Rare Ireland bridges the gap between diagnosis and genetics counselling by putting families with the same diagnosis in contact with each other and offering a network of support during this difficult wait.

* To get in touch with Rare Ireland, email: rareireland@gmail.com or see 'Rare Ireland' on Facebook.