Editors Note : June's story is of particular interest not only our to website, but to all families with children diagnosed with NCBRS. June was the first child to be clinically diagnosed with the syndrome as well as the first to have a paper published by Doctors Nicolaides and Baraitser, who then went on to lend there names to the syndrome.
It is thanks to Ruth, June's mother, whose persistence in determining a diagnosis for her child, that we all now have a diagnosis for our children and also an explanation as to what causes Nicolaides Baraitser syndrome.
Now for June's story (born 1975)
June was born on 9th October 1975, weighing 1.8kg & spent 7 weeks in baby ICU. She was tube fed for 24 hours & although bottle fed well, weight gain & general progress was slow. June sat independently at 6 months, crawled at 10 months & began walking aged 18 months. Aged 3 she developed epilepsy & this was to go on throughout her life although frequency of them varied considerably. June would have absence seizures, complex partial seizures & tonic clonic seizures, sometimes she would go into Status Epilepticus & need urgent admission into hospital to stabilise her, on four occasions she was put into an induced coma & ventilated in order to give her body time to recover. It was during one of these hospitalisations that June was referred to a geneticist at Sheffields Children hospital to hopefully find a diagnosis. After one week of tests there she was referred on to geneticist Dr Michael Baraitser of Londons Great Ormond Street hospital for further investigation. Possibilities that had been mentioned to us were Russel Silver Syndrome & Coffin Siris Syndrome but after further tests at G.O.S.H, both were dismissed. June continued to be seen by Dr Baraitser until she was 16 years old, we were then asked by him if he & Paola Nicolaides, paediatric neurologist there, could publish an article on June in a medical journal in the hope of finding similar cases. No other cases were reported & so the syndrome became known as Nicolaides Baraitser Syndrome.
June had myopic vision but would not tolerate wearing glasses.
June had sensitive skin with periods of eczema.
Junes' appetite was good, loved her meat & vegetables but would not eat fresh fruit. Her meals had to be mashed up as she didn't chew her food properly. She would also overload her spoon & drink quickly so needed monitoring at meal times.
June got constipated at times needing enemas, she also had reflux onto her right kidney which in turn led to urinary tract infections, June took long term antibiotic for this.
Her menses were regular but heavy. The week before a period June could become tearful/irritable/aggressive, it was also quite common for June to have a seizure at this time.
Junes' sleep pattern was erratic going from 7/8 hours a night to just 2/3 hours a night.
In Junes' early years she had a vocabulary of fifteen words but most were lost with only mum, nanna, no & knock-knock ( Junes' name for Donald Duck!) remaining. June did however communicate her needs & wishes very well, using body language or pointing/taking you to whatever she needed.
June developed scoliosis in her teen years.
Junes' mobility did deteriorate over time & although could get around well indoors did need a wheelchair when outdoors.
I have often described the life of June being like going to a funfair, one huge rollercoaster of a ride, so many highs but also lows. June was a very strong person, both in character & spirit who led her life as to whatever she was able to do, it was never about what she was DIS able to do. June employed 3 part time personal assistants who on good days, health-wise & weather-wise, would take her out to enjoy boat, train, car rides, she loved travel! June also enjoyed bowling, country line dancing, visiting our bird sanctuary, meals out, seeing musicals & of course her weekly visit to the local pub to enjoy a glass of lager, packet of crisps & a flirt with any good looking men there! June must have been Donald Ducks number one fan, always a toy one in hand & visited Disneyland Paris 4 times to see him. Of course June did have some fairly bad times, mainly caused by epilepsy, sometimes, following status epilepticus, it would take June 2/3 weeks to fully recover but June would just accept this, always fighting to be 100% fit again, always with that NCBRS smile on her face, eager to be okay again so she could once again enjoy life to the fullest of her ability, but aren't we all on this planet to make the most of what we have, are we not all restricted to some extent, whether it be our careers/family.....intellect? I do feel being Junes' mum I was blessed, a humbling experience. People like ours with NCBRS can teach others so much, to appreciate what you have, not to complain when things don't go as hoped but see how best you can make of the situation. I think June would be saying to her NCBRS siblings "Sure I had many of the symptoms, mostly at the severe end, but you know what? I have certainly enjoyed my time at the funfair of life!"
Sadly, June passed away aged 34 years. This was NOT directly linked to Nicolaides Baraitser Syndrome. A huge inspiration to all those who were fortunate enough to have known her, leaving a legacy none of us would ever have believed.