Diagnosis: Rare Genetic Condition?

Can stimulation and opportunity make a difference for one little boy? Mother tells his story.

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“Despite presenting as a healthy baby at birth, Ruadhán was diagnosed with multiple severe disabilities at the age of 7 months, affecting him severely in a myriad of complex ways. While the exact cause of his disability has not yet been identified, he is believed to suffer from a rare genetic condition.”

“I watched Ruadhán with a mounting sense of panic, trying to reason with myself that my imagination was running away with itself.”

“At 8 weeks of age, I began to notice that Ruadhán didn’t move his right arm as often as his left arm. I still can’t put my finger on what exactly it was that alarmed me; he simply moved that arm with less frequency, although its function appeared to me to be fine. He was also horribly constipated. At 11 weeks of age, I brought him to his doctor who allayed my concerns, calmly assessing him thoroughly and reassuring me that all was well. Again at 4 months, I brought him back and the doctor spent at least 45 minutes examining him. Again, my concerns were allayed. Throughout all of September and October that year, I watched Ruadhán with a mounting sense of panic, not quite able to articulate what was wrong but furiously trying to reason with myself that my imagination was running away with itself.

“The doctor delivered the bombshell – Ruadhan was cortically blind in his left eye, had dysplastic optic nerves and she was seriously concerned about his overall development.”

At 6 months, I returned to the doctor, refusing to leave her surgery without a referral to a specialist. After an hour spent examining him, she stressed that she really didn’t think he had a problem but agreeing to refer him to a consultant ophthalmologist as he had a slight squint in his left eye. On 17th November 2015, Ruadhán finally saw a specialist. Within five minutes, she delivered the bombshell – he was cortically blind in his left eye, he had dysplastic optic nerves and that she was seriously concerned about his overall development. She refused to discharge Ruadhán back to the care of his general practitioner and arranged for him to be transferred to a neonatologist in our largest children’s hospital. She then left the room and immediately ordered a brain scan for him, querying lissencephaly – a profound malformation of the brain. The rest, as they say, is history. Ruadhán was now under the care of a total of 12 hospital consultants and had severe intellectual and physical delays.

For the first 2 years after Ruadhán’s diagnosis, we travelled four times to the UK with him to a child development specialist. We were willing to work very hard and do everything in our power to help him progress as much as possible. Under this program, Ruadhán made some immediate and obvious improvements; his hearing improved dramatically, he started to roll and at 15 months, started to sit with no support. However, the trajectory of his improvement started to taper off within a number of months on this program.

It was clear that we needed something more intense, more tailored to his condition, more expert. I contacted the The Institutes and a month later attended the What To do About Your Brain-injured Child course in Philadelphia. It was a pivotal point in our journey with Ruadhán and it’s fair to say that we haven’t looked back since.

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“Ruadhán started to crawl and his engagement with his environment increased dramatically.”

“Within a month of being assessed at The Institutes, Ruadhán started to commando crawl, firstly via the inclined floor and subsequently on the flat floor. His engagement with his environment has increased dramatically. He now takes a far greater interest in his sisters and as his function has improved, they too have taken a far greater interest in him!”

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Ruadhan is creeping now 400 meters daily

“Within a year of first starting the program, Ruadhán has started to creep on all fours and can now successfully get into the all-fours position himself. We are just back after our third trip to Philadelphia and are eagerly waiting for his overhead ladder to be built, so that he can start to take his first steps independently. Another huge milestone. Onwards and upwards for our beautiful little boy!” 

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“You will have no regrets that you did everything in your power to help your child progress”

“My personal advice to any parent thinking about starting the program is to grab the opportunity with both hands and give it everything you’ve got. Leave no stone unturned and when you look back when all is said and done, you will have no regrets that you did everything in your power to help your child progress to the absolute outer limits of his potential. Ellen Johnson Sirleaf wrote: “If your dreams don’t scare you, they’re not big enough”

Dare to dream.

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