Dreams turned to dust when doctors said Lauren had a rare condition at four days old

Ahead of an awareness day on May 12 for Cornelia de Lange Syndrome (CdLS), Emma Connolly chats to Cork mum, Eleanor O’Kelly-Lynch, about her devastation at her daughter’s diagnosis and how the family have coped over the years
Dreams turned to dust when doctors said Lauren had a rare condition at four days old
Lauren and Eleanor O’Kelly-Lynch

A CORK mum has spoken of the heartache of seeing her daughter live with a rare genetic condition that she says has blighted her life.

And ahead of an awareness day on May 12 for Cornelia de Lange Syndrome (CdLS) Eleanor O’Kelly-Lynch has spoken movingly about her daughter Lauren, who has the genetic disorder which affects around one in 30,000 births.

Eleanor, who runs a customer service and sales training company, Golden Apple Training, and her husband Derek, are parents of three, who live in Glanmire.

Lauren, their middle child, aged 25, was diagnosed with CdLS within four days of her birth.

Eleanor recalls: “Lauren had the classic symptoms — low birth weight of 3lbs 5oz, born three weeks premature, small hands and feet, small head and difficulty feeding.

“The diagnosis was devastating, hearing that your child may never walk, will never talk and will have — as they put it — ‘severe retardation’. We couldn’t believe what we were hearing. The list of disabilities was endless, there’s only so much you can take in, or want to take in. That was a tough time.

“There was no internet then so information was much harder to find. Your dreams become ashes and you have to start again with a new picture of the future. Not easy.”

The impact CdLS has had on Lauren’s life has been severe — and has been very difficult for her mum to see.

“As a small baby she couldn’t take solids so she was bottle fed every two hours for the first eight months of her life, two ounces at a time, and every single day she would throw up at least three or four times, which meant you had to start the feed all over again.

“She really had no interest in feeding so getting every drop in was hard work, she kept falling asleep… but without milk, she wouldn’t live, simple as that, so we had to persist, day and night.

“At eight months I met another mother with a CdLS child a year older than Lauren, and she suggested trying her with an eggcup full of baby rice. It was fantastic, she took it and that meant we could get a night’s sleep for the first time in eight months.”

Lauren has been a COPE client since she was four and attends their An Turas centre every day in Montenotte which Eleanor says is invaluable to both her and Lauren. COPE also provide one weekend of respite each month.

“Today, Lauren still drinks from a bottle, is in nappies and is the size of a thin nine-year-old. She doesn’t speak, can only take pureed food, but thankfully, she can walk. Her reflux — regurgitating her food — is largely under control but a constant challenge.

“She has had pneumonia three times, has severe learning difficulties and would be on the autistic spectrum. She self-injures too and that is the biggest heartbreak of all, a bigger challenge, I would say, than the disability itself.

“As a mother it is despairing to witness your child in distress, especially when you can’t fix it. As a mother you want more than anything else to see your child happy and contented. On the occasions that she is, it is a joy.”

Eleanor, also mum to 28-year- old Gary, and 23-year-old Alannah said the pain never goes away completely — but you learn to ‘get on with the show’.

“You’ve no choice. There are still joys in life and in the family and you learn to appreciate small things. But having said, that I don’t want to gloss over the hard times and the despair that can literally make you feel like dissolving.”

Getting in touch with other families in the same situation has been invaluable to Eleanor.

“There are other families in Cork with a CdLS child — in Fermoy, Ballinhassig and Midleton for example. We met up through the CdLS Foundation UK & Ireland, which is a family support organisation. They organise conferences around the UK and Ireland, where they bring families together. The last Irish conference was in Dublin last year where we got to meet experienced doctors and specialists — on a one to one basis if required — who share their knowledge and expertise and advise on any challenging issues we have — seizures, reflux, behavioural issues, self-njury, speech and language issues, hearing problems, cardiac problems, diet, etc.

“The conferences also bring us the latest CdLS research being conducted in universities and keep us updated on new insights. There is no magic cure, but we do get valuable advice on managing challenging behaviours and common health issues and concerns.

“Everything is essentially run by family and friends of CdLS individuals and this is why, for the CdLS Awareness Day on May 12, we want to raise not just awareness but also fundraise to support the work they do for us all.”

Eleanor is the Irish coordinator for the support group — a voluntary role where she links in with and represents families around Ireland.

“We now have each other’s contact details, we chat as a group on Whatsapp and we are organising a 

family day in September for all the families. We have 24 families in our Irish group (excluding Northern Ireland) but we know there are other families out there who have not yet been in touch. To them I would say, please do get in touch and link into the network of support other parents can offer. Meeting that other mother when Lauren was eight months was a breakthrough for us.

“And the advice from the professionals at the conferences has been invaluable and has actually changed the quality of our lives.

“CdLS is a little known condition and we want — through our Awareness Day May 12 — to inform both the public and health professionals about the syndrome. Families need supports and we need medical professionals to become more aware of the multiple disabilities associated with the syndrome and provide informed options and direction.”

City Hall will be lit up in purple for May 12 and the Lord Mayor is meeting the families to switch on the lights.

Eleanor extended thanks to the Cork Foundation — a unique social enterprise fund — who have given the group their Text to Donate facility. This means that from now until May 13 CdLS supporters can Text FRIEND to 50300 to donate €4. (CdLS receives a minimum of €3.25.)

“We cannot believe the offers of help and support. Cork people really are wonderful! It means every cent we raise goes straight to the CdLS Foundation.

“People often ask: what is the future for Lauren? To this I answer — one day at a time. That’s the only answer, just take one day at a time and let the future take care of itself. It’s worked for the last 25 years and I do think it’s the only way to go.”

Eleanor can be contacted at eleanor.lynch@cdls.org.uk

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