Nicolaides Baraitser Syndrome (NCBRS)

Editors note : Lee and Michelle, Callum’s parents have been a huge advocate for families with a child diagnosed with Nicolaides Baraitser Syndrome. After Callum’s diagnosis and realizing how few children were diagnosed at that time, they felt very strongly that parents should have a way to connect and be able to support each other.
It was six years ago when Lee and Michelle came upon the idea of an annual meeting, with not only families attending but the research doctors also. Lee then took the initiative to approach the charity Jeans for Genes to see if they could have some funding to offset the cost of travelling to such an event for parents. The meetings have been a huge success, growing from just six families attending to sixteen at the most recent. These meetings have proved vital for parents to connect and share their stories.
Lee is also credited with starting a Facebook support page, this has been the most important resource offering lots of information as well as much needed support for parents. So along with the website, the U.K annual meeting and the facebook page, I think there is no doubt that Lee and Michelle have been huge advocates for not only parents but for all our children.

Nicolaides Baraitser Syndrome (NCBRS)

Now for Callum's Story (born 2006)

Callum was born in March of 2006 weighting 5lb 9oz. At the start of the pregnancy everything seemed to be progressing well, then at the 20 week scan the hospital noticed mum's HCG (human chorionic gonadotropin) levels were raised earlier on during the pregnancy, it was then that we started doing more prenatal scans than usual. At this point, all we knew was that he was going to be smaller than our elder son. When Callum was born we knew straightaway that there was something wrong as he looked so different from all the other babies. As he was feeding ok and doing all the things that are expected of a normal healthy baby we were discharged and sent home.

When Callum was about a week old he stopped feeding properly and wasn't gaining any weight. This was due to loose stools and projectile vomiting so he was admitted back to hospital, were they started doing loads of tests on him. He was diagnosed with failure to thrive and a milk intolerance. They started him on tube feedings, along with a dairy and soya free diet also various medications including gaviscon in his feeds. When he was around 2 years old we weaned him back on dairy and soya but he remained on gaviscon. At the age of 4 months Callum had an operation to remove a hernia from his groin area. Throughout his first year he was continuously in and out of hospital for a number of reasons, he had many blood tests and lumbar punctures, despite all these tests and problems Callum remained a happy smiley little boy. During these hospital stays they began doing genetic tests, they tested for Williams syndrome and various other syndromes. All the tests came back negative so he was referred to Great Ormond Street children's hospital (GOSH) in London. By now Callum was under metabolics, paediatrics, genetics, gastroenterologist and dieticians and diagnosed with Dysmorphic facial features, developmental delay, gastro oesophageal reflux, eczema, abnormal acyl carnitine and reflex anoxic seizures.

Callum was then sent to GOSH for 5 days for extensive testing. He was there seen by various specialists, after the testing we where sent home and waited for the results to come back. We then received a phone call one afternoon in December 2007 out of the blue asking us if we could go to GOSH the following day. We where wondering why they (GOSH) wanted us up there so quickly and thought they must of found something. When we arrived the next day, we saw the two Dr's who specialise in genetics (and NCBRS). It was then they told us that Callum had Nicolaides Baraitser Syndrome (NCBRS). We had no idea what it was, only that Callum was the 7th and youngest to be diagnosed in the world at that point. Callum was sent for an ECG in May 2008 due to breath holding attacks which would occur when he would fall over or bump himself, he would go blue and floppy. We had to shock him back into breathing. These attacks have now stopped.

Callum didn't attend pre school but in April 2009 he started a mainstream nursery, he had one to one support. By May 2009 we realised mainstream schooling wasn't suitable for Callum despite the one to one. He needed extra help, we started looking into Callum going to a special needs school, it took a long 6 months but Callum got a statement of special educational needs and started a special needs school in December 2009 when he was nearly 4 years of age. When Callum started his special needs school he couldn't talk apart from a few words like dadda and mumma, was a very active little boy and was in pads day and night, he now can talk relevantly well and can respond to simple instructions and have a simple conversation with you, he now is dry during the day and only wearing pads at night and is still a very active boy.

Callum was then diagnosed with ADHD in August 2011 (put on Risperidone) and sleep onset difficulties. He started sleeping through the night at around 18months. When he had just turned 3, he had gone to bed and a helicopter came flying very low over our house. He woke up very scared and managed to climb out of his cot, over the stair-gate and ran down the stairs. As a result he would not go back in that bedroom, he refused to sleep upstairs even trying to get him to sleep downstairs he would put up a fight, some nights it would be midnight sometimes before he settled. About a year later he was put on Melatonin to help him go to sleep. Callum will now go to sleep upstairs (now we have moved his room) but he will not sleep upstairs all night, some mornings Callum will be up at anytime time between 4-5am each day.

Callum is now achieving all of his levels at school, his behaviour at school can be quite challenging. His teachers have tried all sorts to help with his behaviour. Currently they are rewarding him with outside play for 5 minutes as he loves the outdoors (which at the moment seems to be helping). Callum goes on respite with a community support team (CST) which he loves. He does cooking, drawing, bike riding etc. whilst at the Hub (Callum calls it the PUB) they take him bowling, to the park, soft play, the farm and many more, Callum has just been excepted for overnight respite, there will be familiar faces and sometimes there be will be friends from school there so it'll be like a sleepover.

Callum absolutely loves the outdoors whether it running and playing in a field or going to the park, when he used to go to his childminders she used to take him to the stables where he loved horse riding. Callum loves cars, motorbikes, airplanes and fire engines real ones and toy ones, he says when he's older he wants to be a chief fireman and every time he see's a fire engine or motorbike he stops and waves, he likes to go shopping with us all the time. Every year we go to a Haven holiday site, again Callum loves this he enjoys going to the arcades, the beach, the fair, the clubhouse and seeing the characters. When he has to go home he gets upset and wants to go back on holiday.

In 2013 we noticed a curve in Callum's spine we pointed it out to the genetics whom referred him for an X-ray which confirmed Callum had scoliosis he was being seen every 6 months for monitoring. After a number of check ups at our local hospital you could see his curvature was progressing so they referred Callum back to GOSH in February 2015 (will update the outcome when we receive it). At the moment our special little boy has NCBRS, sleep onset difficulties, ADHD, nocturnal enuresis and scoliosis.

Despite all the heartache, upset and worrying we've done over the years the happiness, joy and love he brings to not just our lives but to all others as well, far out weights it all. Callum always has that gorgeous NCBRS smile on his face which lights up everyone's day, he loves life and lives it to the full. We wouldn't change him for the world and are thankful that he is ours.