This is James story. James was born 22nd August 2009 at a very healthy 9lb 3.5oz. He didnt fully pass his new born hearing test but got ok levels they said for a baby born 12 days late like him and they discovered he had a tongue tie which was cut at 2 weeks old but everything else at the new born check seemed fine. At 8 weeks old he started suffering from severe reflux which thankfully with the help of medication calmed down. James was a very happy baby who seemed to like to watch the world go by. He lived in his own bubble and was happy and content with what he could see and do. He hit all the baby markers at around the average ages and we saw the health visitors every 4 weeks for weighing due to his reflux so we had no concerns. At 7/8 months we started to notice what we thought was a turn in one of James eyes so decided to take him to see the GP to get it check out. We didnt know it but this was the start of our rollercoaster... At 9 months old in April 2010, not long after James had started nursery, we travelled to the Royal Preston Hospital to see a consultant who informed us that James had Nystagmus. Nywhat!?... We where given leaflets and Nystagmus was explained to us in simple terms - James eyes constantly wobble from side to side, he cant help it or stop it and there is no cure or medication to help, his field of vision is effected and his depth perception too. We where told to invest in bright and stimulating toys and books to help him to focus better something both ourselves and nursery did. We went home and soon discovered the Nystagmus Network charity who have supported us ever since. We had a couple of appointments over the next 9 months within the eye department for James vision to be checked out fully before returning in December to see the consultant. She noticed a few things about James that simply wherent right mainly his size - being small for his age, the fact he wasnt walking but was wanting to be on the move all the time and most importantly that he had his tongue out all the time and was constantly dribbling - this was to the extent of 5/6 wet bids a day. She referred him across to the paediatric team for further investigations as Nystagmus can have a cause. He was also registered as partially sighted at this appointment and we left with a Certificate of Visual Impairment for James. Whilst waiting for the appointment with the paediatrician to come through James started to walk alone at around 17 months he was very very wobbly and wanted people to hold his hand or be near him even though he knew he could walk alone for the extra security. (He still is wobble now and falls over quite often.) His paediatricians appointment came through for February 2011. James was assessed and thoroughly examined at the appointment before being referred off for tests. Over a 3 month period he had blood tests, genetics test, blood pressure monitoring, sleep oxidation monitoring, hearing test and an ENT assessment in regards to his tongue. Results day came 23rd May 2011 We sat down and the doctor hit us with We have his genetics results back, weve found something its not Downs but its called chromosome 18q distal deletion syndrome. We dont have much information on it and weve only found one case study The doctor looked James over again and pointed out to us his obvious signs of a genetic disorder - wide set eyes, epicanthic folds, low set ears, small jaw, tapered fingers, low muscle tone, and dimples in places that they arent normal. He decided he wanted to see us again in 3 months time and we left. No information was given to us, no contact details for any help or support we had no idea what this meant for James and us going forward. We where alone - a common thing for newly diagnosed families. Thankfully we discovered the wonders of how social media works and that night we had James trending on twitter we needed to know more about what to expect for his future. From here we heard about the Chromosome 18 Registry and Research Society based in San Antonio, Texas and discovered they had a European side of the charity. We had found our answers and the support we needed we where not alone, and we where able to get in touch with and meet other children affected by the various chromosome 18 disorders. Over the 3 years since James was fully diagnosed he has attended more hospital and doctors appointments then many of us have done in our lives, he has under gone numerous therapies, test and scans and been prodding and poked by a large number of medical staff across the many departments of the NHS that see him and this number grows almost month on month. He now attends appointments at 3 hospitals and 3 soon to be 4 outreach clinics and the gets visited at school but outreach nurses and multi-sensory teachers. Me (Helen) and his Dad (Mark) werent left out of appointments, we ourselves underwent genetic testing to see if we where carries of the disorder and also took part in courses to help James communicate - Sign-a-long and It Takes Two To Talk. We put everything into James to help him communicate and it certainly paid off when after only 9 months he was discharged for speech therapy our first massive achievement almost non verbal to age appropriate language in 9 months! As well as his Nystagmus which we believe is caused by his Chromosome disorder, James has severe hearing loss which he wears hearing aids in both ears - theses where fitted when James was 2 1/2, suffered with glue ear, has developmental delays, and sensory and behavioural issues, flat feet and knocker knees, vertigo and possible kidney reflux amongst many other issues. Despite all this James is just a 5 year old boy who wants to be, and thinks he is, just like his peers, he attends a main stream school and is coping and developing really well. He is a determined little boy who, with difficulty, can read and write, he loves maths and thoroughly enjoys attending his school. He loves nothing more then to preform and has been attending dance classes for over 12 months gaining 5 ITDA rosettes for his efforts and is discovering a love for football (his ability to play will be in hindered by his visual impairment). His life is an adventure and one we want to share with as many people we can to raise awareness of genetic disorders and Nystagmus, to offer support to other parents and now raise funds for the amazing charities that help us on our crazy journey.
Posted on: Fri, 14 Nov 2014 16:32:06 +0000
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