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Jasmin suffers with Sanfilippo disease, a rare, life-limiting genetic degenerative disease, affecting just one in 85,000 live births. Children with Sanfilippo are missing a vital enzyme, which is essential in cutting up and disposing of the mucopolysaccharides (chains of sugar) within the body. Therefore the incompletely broken down mucopolysaccharides remain stored in the body causing progressive damage to the brain, joints and organs, the constant build up eventually means that the child is unable to survive. The life expectancy of a child with Sanfilippo is 12-14 years of age. At present there is no cure for this destructive, cruel disease, all attempts to replace the missing enzyme to date have been unsuccessful.
Jasmin May Heap was born on 2nd October 1998, 5 weeks early by c.section a healthy 6lb 8ozs. Jasmin suffered with colic and slept very badly but other than that she met all of her milestones through until she was about 2 years of age. At that time we found that Jasmin wasn’t speaking hardly at all and didn’t seem to understand basic things – we thought she was deaf. All tests went ahead, and on the 25th January 2002 the bottom fell out of our world as we were told that our beloved only child wasn’t just deaf, she was also dying… Jasmin was diagnosed with MPSIIIA, Sanfilippo disease.
Jasmin is now in the third, final stage of this cruel disease - since July 2006 Jasmin has been very poorly with continual chest infections and aspirational pneumonias. In November 06 Jazzy had a gastostromy feeding tube fitted due to her poor swallow and frequent aspirations and is now totally nil by mouth. In January 207 Jasmin was struck with another aspirational pneumonia and her left lung collapsed - this resulted in us almost loosing her. She was intubated on a life-support machine in intensive care at Birmingham hospital for 5 days, then she started to get better but regressed back into intensive care after 48 hours and was put onto a Bi-pap ventilator, and again feared for her life. With much help from the Metabolic doctors at the hospital she finally turned the corner 3 weeks later after Chloral hydrate was found to be hindering her breathing and food absortion, also they found the bacteria in her lungs is pseudomonas which requires treatment for life.
Jasmin is cared is going to school now a couple of days a week.
Jasmin is immobile following her terrible PICU ordeal, we know now that she will not regain the art of walking sadly. Either way, she’s a happy little girl who smiles and giggles plenty and has a wonderful quality of life.
Jasmin is the most beautiful, special earth angel, and we totally adore her. Jasmin lights up our lives every single day.
Journal
Tuesday, October 7, 2008 10:48 AM CDT
<<<<<<< JASMIN IS HOME FROM HOSPITAL! >>>>>>>
Today we brought our precious Princess home; complete with 3 huge holdalls, 52 birthday cards, a stereo, bubble machine, 5 large helium balloons, 9 birthday balloons and a ruck of medication! We looked like we'd been on a months holiday!
GREAT NEWS > > >Jasmin is really well now, she is lively, happy and her chest is clear and she is asthma free at last.
The high dose of steroids has worked a treat. We started weaning the steroids down today; the weaning plan is actually for a whole month! Were surprised at that, but obviously very, very pleased as it should make things easier for Jazzy and give her more chance of gainng some strength to fight off any problems should they arise.
The best news is that the doctor has managed to double the dose of her daily inhaled steriod (which is to be a permanent fixture for prevention) - this is wonderful as it gives Jasmin a better chance of keeping the asthma controlled. This was not an option before when we spoke with the doctor due to the side effects from such a dosage, but it seems that he has re-evaulated this as he desperately wanted to be able to get Jazzy home and well. We can of course wean the inhaled steroid out in time if we can do.
**** SO FINGERS AND TOES FIRMLY CROSSED ****
Sunday we should be able to take Jasmin for her respite break at Acorns finally - after sadly having to cancel the last 3 bookings due to illness. (I shall be staying with her whilst she's away at hospice).
<<< Many thanks again for all of your lovely messages, cards and thoughts for Jazzy whilst she has been so ill, and also for all of her super birthday cards and presents >>>
Read Journal History
Links: http://www.mpssociety.co.uk MPS SOCIETY
http://www.jameshopkinstrust.org.uk James Hopkins Trust (Respite for Special Children)
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