Dean’s story

Dean was born on 24th Dec 1994, in Aldershot Hampshire. Dean was a very healthy 8lb 1oz, and was born after a normal and healthy pregnancy.

From the very start he was a very good, happy and contented baby. He Loved his food, was very smiley, inquisitive and loved people. He slept through the night from 10 days old. Dean seemed to reach all his normal baby milestones. He was happy sitting, playing and taking everything in. He did not seem interested in crawling, but he did absolutely love his walker and used to happily whizz around the house investigating everything and following us around smiling.

At 8 months Dean went for his normal check up with the GP, the doctor was very happy with how he was. But, then from that point Dean started to go downhill slowly. One of the 1st noticeable symptoms was he look tired all the time, although he was having a normal, if not slightly elongated sleep, also had slightly droopy eyelids. Then followed a chest infection, which was treated with anti-biotics, the first did not agree with him so he was given another kind and the chest infection more or less cleared up, but he still just didn’t seem well at all. Dean was now having problems swallowing, he managed to get the food down but its took longer to feed him, also he did seem to have a slight tremor.

We took Dean back to our GP in late september 1995, She was so shocked with the difference in him, and said he looked like a completely different baby from the month before. We went straight to the hospital (The Royal Surrey at Guildford) where he had lots of different blood tests and an EMG amongst other, but they all came back negative. Then followed a CT scan and apart from Dean’s brain being very slightly smaller than normal nothing else was found. The problem which however was most serious were Dean’s oxygen levels, which kept falling. He was having to be put on oxygen more and more at this point, and this was a real puzzle to the doctors and medical team. So it was decided that Dean was going to be sent to St Georges Hospital in Tooting, London to be seen by top paediatric neurologist, Carlos de Sousa.

So there began our hospital journey, Dean was admitted to a cubicle (due to his age) in a normal children’s ward. Carlos de Sousa was fantastic, he said he would do as many tests as he could to find out what was causing Dean’s health problems. But during the 1st 4 days there Dean’s oxygen levels deteriorated so much that he was admitted to Paediatric Intensive Care where he was put on a ventilator. Then followed a barrage of tests to try and find a diagnosis. Two MRI’s of Dean’s brain and one of his neck were undertaken and a further EMG, which all appeared fine. Dean was then transferred to Great Ormond Street Hospital for further testing, and they then repeated the EMG.

After this EMG, we were taken aside by paediatric neurologist Dr Jane Collins (who’s now the CEO of GOSH) and were told that the EMG results had come back with a real difference from the original results. That they showed there was severe deterioration in the conductivity between the nerves and the muscles. Dr Collins and her team, still did not know at this point what was causing these problems with Dean, but it was progressive and would be fatal although they had no idea has to how long this would take. Ian and I were shell shocked.

We were then sent back to St Georges Hospital where Dean continued having a tests, and another MRI scan of his brain. At this stage we found it very difficult, because Dean didn’t actually look ill, he was eating fine (although through a nasal gastric tube) gaining weight, (actually a bit too much they even put him on a diet) but then he had always been a big baby. In fact he appeared to be developing normally, he got more teeth and his hair grew, all the things you would expect of a baby of his age. The saddest thing was if we could have taken away all the tubes etc, he would looked like a normal healthy baby. People when they saw Dean expected him to look very ill, to different to other babies, but he just didn’t.

During the next 3 months Deans condition sadly be came much worse. He had lost most of the movement in his limbs, his muscles just weren’t working and he was fed through a tube. By Dec 1996 and his 1st birthday he had a tracheostomy and heartbreakingly Dean by that time did look a very poorly little boy.

Throughout that time Dean’s father Ian and I lived in a hospital flat, and our friends and family came to visit us from home. Our consultants Carlos de Sousa, Dr Linda Murdoch (the lead clinician of the PICU), the other Specialists, support teams and the amazing Nurses were absolutely incredible. They provided support, kindness, care and information, they became our friends. We wouldn’t have got through Dean’s illness without them, their care of Dean and us throughout was unbeatable.

By the middle of January 1996 Dean had caught a second chest infection. We had a decisive meeting with Dr De Sousa, Dr Murdoch and team, and it was decided that we wouldn’t treat Dean, but we would make sure he was pain-free and comfortable. All the family came to say their goodbyes, but my wonderful Dean was such a tough little boy that he fought the infection off. So another meeting was held, and jointly we decided that Dean had no quality of life and was getting steadily more and more ill. so it was decided it was time to take him off the life support.Once we had cleared the sad legalities, 3 of the doctors and the solicitor gave us the permission to withhold life support.

On February 2nd 1996, at 10.30am Dean was laid on a pillow between us and taken off the ventilator and died quickly and peacefully in our arms, our gorgeous, wonderful, precious little boy Dean.

Dean was buried in a village where my parents live and where I grew up. The service was at All Saints Church, Worlingham and was taken by Rev Hilary Johnson the C of E chaplain at St Georges Hospital and the local vicar, 12 of Dean’s nurses attended the service. In April all the medical staff at St Georges who had looked after Dean held a memorial service for him. Carlos, Linda, and many other Drs., support staff and nurses whom had cared for our precious Dean attended. Some read verses, they also had a little gathering after and we were so very touched and we will forever remember their kindness.

Dean’s post-mortum, was conducted by Brian Harding, paediatric pathologist from The Institute of Child Health. We were informed of the results in July 1996 by Carlos de Sousa, it was Fazio-Londe disease. This is the same as BVVL but without the deafness, however this simularity wasn’t recognised until the last few years. For the first few years after Deans death I kept in touch with Dr.Carlos de Sousa, he diagnosed at least 2 other children with Fazio-Londe, caring for Dean helped Carlos diagnose these children. sporadically I have kept in touch with Dr Tessa Homfray, a geneticist at St Georges Hospital. She had extracted Dean’s DNA to be used for research purposes, and it was sent to Oxford, Kings College and Guys where they discovered the gene that caused both Fazio-Londe and BVVL. Ive now been in touch with Tessa again by phone to transfer what is left of Dean’s DNA to Dr Henry Houlden of the Institute of Neurology in Queens Square, London for his research and further treatment for Fazio-Londe and BVVL.

In Dean’s memory I want to help as much as I can to help with research and awareness for this debilitating disease and to help others. Now for the 1st time, ex husband Ian and I will also be getting our bloods charted in the hope that we can help unravel the genetic code which causes this awful disease.