Tilly is a remarkable daughter and we love her as much as any parent
can. We want this web site to have a positive impact on you all and
hope you take the following story of her life in the same positive way
that Tilly approaches every day.
It is very sad that someone so
young has had to endure so much pain in her short life which is why we
have set up this
appeal fund for her.
Tilly was born the product of a normal pregnancy and delivery at a healthy birth weight of 3.2kg.
The first problems were noticed at the point of weaning from breast milk at 5-6 months of age, when she developed episodic vomiting and constipation.
During Tilly’s life she has suffered from the following:
- CINCA/NOMID - 57 known cases in the World
- Meningitis
- MRSA Several bouts of
- Pneumonia
- Pseudo Obstruction
- Severe Septicaemia
- Severe Lung Disease
- Severe Osteopenia
- Displastic Hips
- Hearing & Eyesight Loss
- Reflux of both Kidneys
After admission to Basildon Hospital one particular night with severe vomiting and dangerously high temperature, Tilly was immediately transferred to the Royal London Hospital in Whitechapel where she was to remain for the next 18 months to 2 years.
The following six months of various tests led to a mis-diagnosis of a rare condition known as Hypophosphatasia, 16 known cases in the United Kingdom, due to raised cerium calcium level, a low ALP and mildly raised urinary phosphoethanolamine.
During the next six months Tilly continued to deteriorate and despite being given pre-digested milk through a nasal gastric tube over a 24/7 period, she continued to vomit every night and lose weight.
Finally she had to be operated on to have a Hickman or ‘TPN’ (Total Parental Nutrition) line fitted which proved effective for the first six months as she gained weight but almost proved deadly for Tilly as the line had contracted Septicaemia and lay undetected for some weeks.
One night Tilly’s oxygen levels rose alarmingly until she eventually stopped breathing and a manual pump was inserted to keep her alive and she was rushed to Great Ormond Street and remained on Intensive Care for 5 weeks.
During this period we were approached on two occasions and asked to consider switching off the life support machine as she was so badly infected and the possible long-term effects could lead to a very difficult future.
The problem was that they could not find the source of the Septicaemia and as she had been wrongly diagnosed, they did not realise that the actual condition, CINCA/NOMID, was causing inflammation and was very active.
Thankfully her notes were passed to an expert in Rheumatology who approached us with a very likely diagnosis of CINCA/NOMID and requested that steroids be administered immediately to try and reduce the inflammation.
The results were encouraging and eventually helped for the source to be found, Hickman line, and subsequent medications to help treat the problems and finally Tilly to come off life support.
The following 3-6 months were spent at rehabilitation at GOS and she finally came home.
Over the next few years Tilly regularly spent weekly spells in Hospital due to infection(s) contracted as her immune system is very suppressed.
Tilly is still on many medications including steroids and annakinra, the later has to be injected daily.
Education
Amazingly Tilly has attended a local normal School over the past few years, Mountnessing, and she has a one to one carer to support her as she cannot walk unaided.
The School have been marvellous in supporting Tilly and helped us to provide Tilly with an electronic wheelchair for her to use at play times s that she can interact and socialise with her friends.
I cannot speak highly enough of the School as everyone associated with it have treated Tilly with the utmost love and respect. Although Tilly missed the first stages of school due to illness we provided her with private tuition, and she always progressed albeit slowly due to her physical problems.
The sad thing is that the Government, during the statementing process, tried to send Tilly to a severe learning disability school approximately 30 miles away from home which we contested bitterly as the need was physical and not mental.
The Government system should have provided the home tuition and failed to consistently do this which led to us paying for private help.
CINCA/NOMID Research Programme in Washington DC
At the beginning of 2006 we heard about a unique Research Programme taking place in Washington DC for CINA/NOMID and similar related conditions.
After several discussions we agreed to take part and subsequently visited the NIH in Washington DC for Tilly to be assessed. The resources and facilities at the NIH are amazing and the detailed assessments of Tilly’s current state provide a very dark but realistic overview of the various problems that exist.
We have agreed to continue the visits to the NIH on a 6 monthly basis, which the fund will support.
Hip Operation
A hip specialist in London who has known of Tilly for some years was approached about a possible operation to correct Tilly’s hips to enable her to possibly walk unaided.
Following a consultation he decided that the hip problem was linked to her main condition and would require re-construction surgery that could prove dangerous and he wrote to us stating that he would not perform such an operation on Tilly.
During the visit’s to Washington we met with a surgeon who has performed operations on children with CINCA/NOMID, and after assessing Tilly and talking with the Research Team he believes that Tilly’s hips are not linked to the condition and he recommended surgery.
We have met with the surgeon and he has described the surgery and that he expects a 90-95% success rate. We have decided to give Tilly this opportunity and a major part of the Appeal Fund will contribute to the operation and rehabilitation.
The operation will entail shortening the hip and leg bones to bring them closer together. Tilly will be in a cast from her feet to her chest for up to 3 months with subsequent rigorous rehabilitation to follow over the next 3 months.
Debbie and our son, Oliver (3), will stay with Tilly for this period.
