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Family Stories; 11/7/00 MMA Mut 0 Lara was born in a private hospital in Portugal where my husband and I had been living and working for some years. The birth followed a normal pregnancy, however, it became immediately apparent that Lara had feeding problems, refusing to latch on and then vomiting a bottle feed. However, this settled after a while and at four days we were allowed home. It was only after a few hours of being home that Lara developed breathing problems and we rushed her straight back to hospital where we were told that she was extremely dehydrated – as we now know, a trait of < st1:stockticker>MMA.The pediatrician had the good sense to recognize that this could be a metabolic condition, which at the time meant nothing to us and Lara was rushed off by air ambulance to a specialist hospital in Lisbon. It took them about four further days to come up with a diagnosis of Methylmalonic Acidemia, which was later confirmed with a skin biopsy. Lara remained in hospital for three months and was then allowed home with a special formula and medications including Lcarnitine and Metronizodole. She suffered two crisis in the next two years which required hospitalization and it was after! the se cond that we decided it might be better to return to live in the UK. We had been in contact with Professor James Leonard, a leading specialist in metabolic illness, based at Londons’ Great Ormond Street Children’s Hospital. He agreed to take Lara on as a patient and we moved back here in winter of 2003. This was just in time as in July 2003 Lara stopped eating and then drinking everything. She became extremely malnourished and was using up own protein reserves, causing her to be overrun with acid. At its highest her lactate level was 23.5! She remained in PICU in a coma for two weeks and we were told to expect the worse. However, Lara is a fighter and somewhat miraculously pulled through, with some help from Prof Leonard and his cocktail of B Vitamins (Jungle Juice as it is now called!) Lara had a gastrostomy button fitted and has continued to be tube fed through this to this day. She has three bolus feeds during the day and then a continuous feed via a pump duri! ng the night. This has helped to avoid any further crisis with regards to Lara becoming acidotic and she has remained fairly stable from a metabolic point of view. Unfortunately as a side effect of her MMA, Lara does suffer with intermittent bouts of acute pancreatitus which is extremely painful and has no cure aside from complete rest of the gut system, which involves hospitalization and intravenous feeding. To date in her short life Lara has endured 36 hospital stays! Having said that though Lara doesn’t dwell on this at all and is the most happy, go lucky little girl that you will meet. She has a great character – a huge sense of humor and most certainly touches the lives of all she meets. She loves school and is currently in Year three. She does have some learning difficulties, but has a statement which means she gets full time support and is coming along just nicely. She loves music and dance and generally entertaining us. She is very sociable and is a bit of a tv addict! She does eat now and again and enjoys tomato soup, fruit smoothies, pasta with sauce, chips and dark chocolate mints!! Lara has helped Great Ormond Street hospital in advertising campaigns to raise money and awareness of metabolic conditions in the UK. However, there are only about 100 cases of MMA here so therefore funding for research into this rare disease is unfortunately rather scarce. Our current sp! ecialis t Dr Stephanie Grunewald is starting to lead a European initiative into research. We were lucky enough to make the trip to NIH in 2006 and hope to return this summer to meet Dr Venditti, Jen and all of the team. We live in hope that Dr Venditti will uncover the secrets of this devastating illness and with the help of the research fund will find a cure for MMA.
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