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Personal Stories
Finnan’s Story
At 5 months, when Finnan clearly wasn’t making any attempt to roll over, and didn’t seem to be able to see very far, we made an early appointment to see the Health Visitor for his 6 month review.
Emily’s Story
Becky and Phil Hamilton of Accessible Holiday Escapes got in touch with CDG UK to share their family’s story.
Finnan’s Story
At 5 months, when Finnan clearly wasn’t making any attempt to roll over, and didn’t seem to be able to see very far, we made an early appointment to see the Health Visitor for his 6 month review.
From there, he was referred to the local hospital and then to Birmingham Children’s Hospital, where at 12 months he was diagnosed with CDG type 1a.
Very soon after, his life became filled with appointments and therapists of all kinds.
When he was three, he was lucky enough to get him a place in an outstanding local special school. Since then he has grown into the amazing little boy that we see today. He sits independently on a bench during circle time, he is able to move himself from lying down to sitting, and, most excitingly, he has just started walking at school with the aid of a walker. Finnan has also developed in leaps and bounds cognitively too. Recently, his vocabulary has developed very quickly and he has started to put words together to make meaning. He remembers stories from books and can count and add. He also thinks naughtiness is very funny and his best friends tend to be the naughty ones!
Emily’s Story
Becky and Phil Hamilton of Accessible Holiday Escapes got in touch with CDG UK to share their family’s story.
Emily was diagnosed with CDG Type 2 in 2015 at the age of 3. She was born at full-term and everything progressed as expected at first. When Emily was about 7 or 8 months old we began to get more concerned about her physical progress as she wasn’t sitting up, rolling or developing any fine motor skills. Other than that she seemed very healthy and happy. Emily was referred to the community paediatrician at around 12 months old, and since then physiotherapy, speech therapy, occupational therapy and much more has been ongoing. Emily underwent investigations in the form of blood tests, scans, and assessments by different specialists at various hospitals. Ataxic Cerebral Palsy was initially suspected.
Emily sat up at 14 months old, crawled at 18 months old, walked using a rollator aged 2, and walked independently at around 2 and a half. For a long time she needed lots of help and support when walking because of her poor balance and still needs help now. although is doing far better than we ever hoped! Emily is very sociable and happy, and also very determined and stubborn! Emily has learning disabilities, and spent 4 years in our local mainstream school with 1:1 support, and has just moved to a resourced provision within a mainstream school with a specialist teacher and staff.
In 2018 we began writing a review-style family accessible adventures blog (we also have an 11 year old son Sam) www.theflyingbumblebee.com to share our days out/holiday experiences and became part of the large disability community online. We then realised it wasn’t just us who struggled with finding accessible family holidays. As Emily became older and our needs became more specific, we found thatthere seemed to be very little information or search options on-line for accessible and child-friendly properties, and it was difficult to find the access information we needed. As a family of 4 it’s really important to us to find somewhere that will be right for all of us, but unexpected internal steps, missing stair gates, or open gardens mean it suddenly isn’t a holiday any more!
We eventually decided to take the plunge and launch our own website. The accessible tourism industry is growing in the UK so we felt it may also be successful as a business, as well as helping travellers like us search for accessible holidays. We launched www.accessibleholidayescapes.co.uk in June 2019 and have had an amazing response. We already have 70 properties listing with us and more due to be uploaded; and have had a really positive response from users of the site. We won a Theo Paphitis Small Business Sunday award recently, and were filmed by ITV Wales news talking about our story and the website, and were featured in the Daily Post newspaper.
We also hope that sharing our story will raise awareness of CDG. We have yet to meet a professional (other than the team at BCH) who have worked with a child with CDG before, so Emily is usually their little guinea pig! Our unexpected CDG journey has eventually led us down the path of accessible tourism and given us a totally different outlook on life. Like any parents of a child with a disability some days can be difficult, and the appointments, paperwork and therapy programmes are never-ending; but we try and maintain some sort of happy family life with accessible adventures thrown in!
Ed’s Story
Our Edward is 9 years old. He had a natural birth at full term. During pregnancy, scans revealed that he had short long bones in his arms and legs.
His head measurement was larger than expected and his stomach was distended. Ed’s hands were tightly clenched in a fist formation. We were told that there was a possibility that Edward had a chromosomal disease. Regular scans were made throughout pregnancy.
When he was born, Ed had a seizure and prolonged acute jaundice and spent the first two weeks in the Special Care Baby Unit at Winchester hospital. Once home, Edward was slow to feed and very floppy. He was never an active baby and it was clear that he was becoming unwell. At eight weeks of age, Edward was admitted to Southampton General Hospital with hypertension and acute renal failure.
This was the beginning of a nine week stay in hospital, during which time he had peritoneal dialysis and emergency surgery for a perforated duodenal ulcer. Initially we were told “it does not look good” as Ed was so unwell. Surgery for the duodenal ulcer was successful, but with Ed’s kidney problems, we were told that Ed would probably never pee again. However, they had not reckoned his stubborn determination!
Ed did start peeing again, but he had high levels of protein in his urine and was diagnosed with Congenital Nephrotic Syndrome (loss of protein through the kidneys). Ed had a kidney biopsy performed to try and find answers for his acute renal failure, but he suffered an internal bleed which required more surgery. He had an embolization to stop the bleed. He has 30% loss of function in his left kidney as a result. However, over time, Ed’s kidney function has slowly improved and at three years old, the Nephrotic Syndrome resolved itself! He now has a pretty normal kidney function.
During his stay at Southampton General Hospital, Ed’s Renal Consultant, Dr Rodney Gilbert, suggested testing for CDG. He said that it was “a long shot” but he wanted to tick it off the list of possible causes for all of Ed’s problems.
The results came back positive for CDG Type IIx.
Since that time, a number of tests have been carried out to establish Ed’s sub-type. Sanford-Burnham Medical Research Institute in California discovered that Ed did not match any known sub-types, but has a mosaic mutation of this. Ed’s CDG is not hereditary, but a spontaneous mutation. He is SLC35A2-CDG. At the time, Ed was one of three children worldwide with SLC35A2-CDG and the results were written up in the American Journal of Human Genetics.
Ed had severe reflux and was in a lot of pain and discomfort with it. It was also affecting his ability to gain weight. A couple of years ago Ed had a fundoplication, via keyhole surgery, to stop his gastroesophageal reflux. This has helped Ed to gain weight.
Ed still has poor muscle tone, but has a great deal of determination. It has taken him a while, but Ed can now hold his head for a short while and has mastered rolling over. He is trying to crawl by pushing his knees forwards, but he does not have the upper body strength to weight bear with his arms. Ed is tube fed and only eats a small amount of solids a day.
Ed cannot speak but he does vocalise and is trying hard to make words. He can say “Edward”, “mummy”, “brother”, “Hello”, “yeah” and “babby” (daddy). We and the school believe that Ed will one day speak a few words! Ed also loves to blow raspberries!!
Ed started school just before his fourth birthday. He settled in straightway and particularly enjoys hydrotherapy, sensory play and tactile music activities.
Ed is a happy smiley and very determined little boy. Everyone who meets our happy, smiley little boy falls in love with him.
Matthew’s Story
Matthew was born at home following an uneventful pregnancy and after a 45min labour, he came out feet first (we didn’t know he was footling breech) Surprise!
The first 12 days went fine except he would twitch a bit when falling asleep. Numerous midwife and health visitor visits reassured me it was nothing serious although when we were admitted to hospital due to losing 10% of his birth weight, on the ward I showed the doctor the twitching and she confirmed they were seizures. An urgent MRI, Lumbar puncture, ng tube and antibiotics were done, luckily confirming it wasn’t the meningitis they suspected but sadly confirming Matthew had two bleeds on the brain, they expect from his quick and upside down birth. We left the ward a week later being told a neurologist would tell us more but they couldn’t say if he would be a average child and he would possibly be delayed.
After 3 further months of fighting to get him to feed, he was diagnosed malnourished and fitted long term with an ng tube and we saw the neurologist who blew us away with the fact the bleeds were not the cause of Matthews issues of floppiness, poor feeding, poor vision, poor hearing, poor social interaction but that he thought it was genetic. He noted inverted nipples, poor fat distribution, cross eyes and sent some blood off for testing.
When Matthew was 6 months old we went to sign some paperwork to start a CAF (basically a meeting to get all professionals together) and was hit with the bombshell that they had diagnosed Matthew with Congenital Disorder of Glycosylation. Type unknown. Expected 1A with his symptoms. To be honest the diagnosis was a relief to know what had happened the hardest bit was finding out it’s a 1 in 3 chance to happen every pregnancy.
In the next six months we found he had a heart murmur, fat spheres on his kidneys, his liver function is abnormal and he has optic nerve hypoplasia (poor number of nerves), he has poor muscle tone everywhere and I mean everywhere.
Matthew is now almost 3, about 2 years ago he had a skin biopsy confirming he is type 1A, he still cannot sit or stand. He cant grab a toy or hug you. He cant say words but can say mama and dada although its more of a ma ma ma ma :). He is now fed through a tube in his stomach firstly with a PEG now a Mini Button. Although he is now taking some fruit puree but this has been a long road. He’s a typical toddler obsessed with the Ipad. He’s a social little bunny and has an incredible smile. He has just started school and seems to be thriving there.
We are still at a very early road with him and we thank whoever is upstairs for every year we have with him.