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Patient stories

James’ story

by his parents, Mandy and Tim

“The day after James was born, our lives were shattered when we were told he had a loud heart murmur. Taking him home from hospital felt like he was on loan. We knew we would be back – not the feeling we had expected.

“He was diagnosed a week later with the heart defect Tetralogy of Fallot, and we were told he would need surgery in his first year.

“Things went from scary to completely surreal a few weeks later when we discovered that he had DiGeorge syndrome and a zero T-cell count.

“Children with DiGeorge syndrome can have many problems, including cardiac defects, an inability to metabolise calcium, immunodeficiency, feeding problems, poor muscle tone, developmental delay and poor hearing. When James was a tiny baby, we were so scared for his future. We just wanted his life to be worth living.

“Our local hospital immediately put us in touch with Dr Graham Davies, and we met with him at Great Ormond Street Hospital (GOSH) and learnt about his groundbreaking thymus transplant research.

“It was daunting to think that this was so new and had never been performed in Europe before, but also amazing to think that if it worked, James would develop a normal immune system.

“From that point on, we have lived in a bubble. No one can hold James other than us and his grandparents. He has never played with other children, and we stay away from public places.

“In March 2009, at six months old, James had his heart surgery, and we saw his lips and toes turn from blue to pink! He then had his thymus transplant in May. Luckily, we had been able to keep him infection-free up to that point.

“It was an agonising wait for a suitable thymus, and for it to be cultured successfully. It has taken enormous patience and positive thinking while we have waited for the first T-cells to appear, with complications along the way. But, finally, it feels like our little boy has been born, as it looks as if the transplant is working and James’ T-cell numbers are increasing week by week.

“Hopefully it won’t be long before life can return to normal. We look forward to trips to the zoo, swimming lessons, holidays, toddler clubs and playtime with cousins, none of which would ever have been possible for James if it wasn’t for the remarkable research work that GOSH carries out.

“James is a bright, strong and affectionate little boy, full of fun and loved by many.”

Ben’s story

by his parents, Pat and Tony

“We adopted our son Ben when he was 15 months old, knowing that he was having nocturnal seizures, and he was diagnosed with epilepsy at 18 months old.

“Ben went on to fail some of his milestones, and at two years of age, was diagnosed as having severe hearing loss which was delaying his speech, and severe ataxia which was delaying his gross motor functions.

“Ben was later found to have a renal tubular defect, after he became ill with vomiting and dehydration every six weeks or so. He underwent many tests at our local hospital and other specialist hospitals, but a diagnosis could not be established, although the specialist agreed that all of Ben’s symptoms were connected.

“Ben was eventually referred to Great Ormond Street Hospital (GOSH), but they could not give us a diagnosis either.

“In 2009, when Ben was 20 years old and we had given up hope of a diagnosis, GOSH contacted us again. They had discovered a new syndrome and wanted to test Ben’s DNA to see if he had the defective gene. We went to GOSH again, and Ben had lots of tests and was finally diagnosed with EAST syndrome. There is no cure yet, but with continuing research, better treatment may be found to cut down on all the medication Ben has to take.

“We are very grateful to the doctors at GOSH for not giving up on Ben. It amazed us that after so many years they remembered he had the symptoms of this rare syndrome.”

Jake’s story

by Shoba and Lisa

“When Jake was born in 1998, I sensed something wasn’t right. Over the next few months, he developed feeding problems and wasn’t able to put on weight as quickly as other babies.

“Our GP referred us to a specialist who said Jake had quadriplegic cerebral palsy – he’d never walk or talk. It was a massive blow which left us devastated.

“I set about learning everything I could about cerebral palsy and quickly became convinced that my son didn’t have it – his symptoms just didn’t fit.

“Over the next two and a half years, I tried many treatments to help Jake walk. But, by sheer chance, he was finally – and correctly – diagnosed.

“He got a diarrhoea bug, was rushed to hospital and took five weeks to recover. He was put through a battery of tests again, but this time the neurologist said he’d do one extra – taking a sample of Jake’s cerebral spinal fluid.

“Just a week later, the neurologist called saying the sample was positive. Jake had Aromatic L-Amino Acid Decarboxylase Deficiency (AADC), a rare genetic illness affecting the brain’s ability to produce neurotransmitters essential for everyday living.

“It was at this time we met Professor Simon Heales, the person who had uncovered the astonishing diagnosis. We learnt that only around 17 cases of AADC had been diagnosed worldwide, and that Jake was the only British child with the condition. Despite this, it was honestly like winning the lottery, because we finally knew that Jake didn’t have cerebral palsy and that he might be able to receive the proper treatment.

“Jake was three and a half then. With medication developed to treat Parkinson’s disease in adults, by the time he was five, he was walking. He’s now 12 and takes between six and nine different drugs several times each day to preserve his mobility and health.

“Sadly, as well as AADC, he also has autism, a heart condition, asthma and severe hay fever. But compared to where he was, it’s a small price to pay. He’s able to live as normal a life as possible for someone with such a rare disease, and every day we have with him is truly a blessing.”

Joshua and Samuel’s story

by their parents, Sarah and Michael

“When our sons Joshua, now 13, and Samuel, 12, were born, both appeared to be healthy normal babies. This rapidly changed, and within 24 hours, both were admitted to the special care baby unit at our local hospital with respiratory distress and chest infection.

“Both children improved spontaneously and were discharged for home care. Only two years later and after many further tests and investigations were the children diagnosed with primary ciliary dyskinesia, an autosomal recessive genetic condition.

“The tiny hairs or cilia don’t work effectively, mainly in the lungs, ears and sinuses. The job of the cilia is to remove secretions – as they didn’t work, secretions sit and get infected.

“At this point, both boys were referred to a specialist paediatrician with an interest in respiratory medicine. He immediately commenced the correct treatment of targeted antibiotics, nebulisers and daily chest physiotherapy.

“Since their diagnosis, both Joshua and Samuel have met all their developmental milestones. This has not been without its ups and downs.

“Both boys have a vascuport for intravenous antibiotics. They continue on multiple medications, antibiotics, nebuliser antihistamines, and reflux medications. A large part of their daily routine is made up of physiotherapy: 15–20 minutes twice a day when well, which increases when they are unwell.

“Sport is a very big thing in our house, and both boys enjoy football, swimming and cricket. They have many appointments at hospital and, despite this rare disease and the amount of treatment they have, both boys are bright, capable children, able to live as normal a life as possible.”

Lennon’s story

by his mum, Clare

“I was willing to be involved in the Trim Tots project straight away. I was grateful for the opportunity to go somewhere once a week with my boys, Lennon, two, and new-born Ethan.

“There was free entertainment, fun games for the kids, and we learnt lots of new things. I particularly enjoyed the cookery lessons as I had always tried to make sure both boys had a balanced, healthy diet.

“The information from Trim Tots opened up a world of more home cooking. We were taught to make Lennon curious and interested in food and to let him feel and touch the food. No sooner did Lennon help me prepare the dinner, the following week he was eating broccoli like it was chocolate! I encouraged Lennon to spread his own sandwich filling and pour the pasta into the pan etc. I hadn’t even thought of it before the Trim Tots team suggested it!

“I also looked at how we spend our time. Now if I turn the TV off and encourage the boys to sit at the table to do an activity, Lennon will say ‘it’s good we turn the TV off Mummy - we shouldn’t watch too much!’

“The simple fact is, the lessons we learned and knowledge I have passed on to friends and family, has made a big difference to our lives. We remember our time at Trim Tots with fondness. We never felt pressured or ashamed due to lack of knowledge or being provided with information we didn’t previously have. We felt honoured.

“The Trim Tots programme and support for children and families at this vital age needs to be widespread. It should be available for all parents as they are the building blocks to nurturing a generation of health conscious, educated young people.”
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