Our story starts on 10th August 2005 when our much loved daughter Katerina, known as "Kitty" was born. She was a healthy weight of 8lb 6oz but would not feed well. When her BM went down to 3.6 at one day old, I more or less abandoned breast feeding and went over to bottles. She lost about 15% of her birth weight in the first week which was worrying but we weren't unduly concerned. She also seemed to be very cold all the time, even though it was middle of August. Kitty had the heel prick test at 5 days old. At this point we had no knowledge ofwhat conditions were tested for at newborn screening. Only that it was recommended all children were tested.
On 19th August we got a phone call from Professor Clayton at Great Ormond Street Hospital (GOSH) in London. To say this call frightened us is an understatement. We were terrified. He told us that we had to immediately come to the hospital. Of course we dropped everything to rush up there. Once there he tried to explain the results of the heel prick test, although I don't think much of what he said really sunk in. He told us that Kitty had MCADD, a rare metabolic disorder. He asked me and my husband if we were cousins because of the rare nature of the disorder!
We made several visits to GOSH over the next few weeks. We met a dietitian and a metabolic nurse specialist. We also had to take our son Theodore, known as "Teddy" to be tested for MCADD. He was 2yrs old at the time and although he had been ill before with gastric bugs, we were sure that he didn't have the same condition. Imagine our shock when we received a phone call from GOSH to say that Teddy also had MCADD. We were devastated to say the least.
After the initial visits started to tail off we felt a bit alone. As though we were now left to deal with the condition on our own. It was then that I started to trawl the Internet for information. When I tried to explain the condition to friends and family they just stared blankly. Most would reply, "But they look perfectly normal!"
It was at this time that I discovered a life-line...FODSupport.org!
I read all the messages from the Email List and responded to a couple. It was amazing to hear other peoples’ stories and a comfort to know I wasn't alone. I was also very impressed with the amount of knowledge the parents had regarding their children's condition.
I eventually met up with 2 other UK MCADD families via FODSupport.org. This was very special as we were all going through similar difficulties. Here in the UK they treat MCADD quite conservatively, e.g. don't prescribe Carnitine, Creatine etc. When I queried this with GOSH, they dismissed it as unnecessary, which was frustrating as I understandably wanted the best treatment for my children.
By the end of 2005, we were finding out lots of information about newborn screening. Kitty had been so lucky to have been included in a pilot study here in Essex. Our health authority was only one of 6 in the UK that was screening for MCADD. The pilot had started in October 2004, so our son had missed out as he was born in July 2003. The pilot study was continuing until 2008. Then a decision would be made whether to screen for MCADD on a national basis. I regularly completed questionnaires regarding the pilot study and joined the UK charity called "CLIMB" - Children Living With Inherited Metabolic Disorders. We were determined that national screening should start as soon as possible.
In March 2006, Kitty had her first hospital admission. The local hospital where she was admitted did not know how to treat her, even though we'd been there previously on visits to see one of the paediatric consultants. Unfortunately he was on holiday at the time of admission and no one else seemed to know about MCADD. I had various meetings with doctors, dietitians and nurses and between us we worked out the best treatment. However, the day we went home, she became very ill - she had caught RotaVirus whilst in the hospital! So we went back for another week's stay. This was very frightening as she was slipping into unconsciousness. Eventually Kitty recovered. However, the experience had left me slightly traumatized and angry. I met with the ward matron and explained my worries concerning the ward's lack of knowledge, the lack of infection control etc. etc. She was so impressed with my feedback that she told me I'd make a good nurse! She also arranged with GOSH for the metabolic specialist to come and give a presentation on MCADD.
During the rest of the year, both children were healthy, until we reached Christmas when Kitty had her second admission. This time I was telling the doctors what treatment she needed as I was now more knowledgeable. In early 2007 Kitty and Teddy were both admitted with a stomach bug. Both only stayed a couple of days and recovered quickly with IV glucose.
At this time we became concerned that Kitty may have some learning developmental delays as her speech was not forming yet. We still have to wait and see if this improves.
In February 2007 I was delighted to read a press release by UK Health Minister that the interim results of the UK pilot study had been so overwhelming that national screening would take place. It will be gradually rolled out and in full implementation by March 2009.
We've all come a long way since August 2005. Both children are happy and doing well. Teddy is particularly bright and I think our comparisons to him may have us worrying unnecessarily regarding Kitty's development - time will tell.
On a positive note, due to the last 2 years’ experiences, I decided to become a paediatric nurse. I'm just about to finish my year at college doing combined sciences, and will be starting University in September to do a three year degree. I hope one day to specialise in metabolics. After all, with the new screening programme, I will be sure to meet many more FOD children.
I also wanted to add that I feel very privileged to be the mummy of two very special children. They have had to cope with blood tests, painful IVs, hospital visits etc. at such a young age and have shown great courage. It makes me proud to be part of such a special family.
Best wishes to all.
Susan Wood, Essex UK
mum to Theodore, born July 31, 2003 ( MCAD) and Katerina, born August 10, 2005 (MCAD)