Ekta's story, written by his mum
I have two beautiful children, Darpan (son) and Ekta (daughter) .Ekta is our second child born on 14th February 2005.
On 3rd day after her birth, while still in the hospital her feeding deteriorated, by mid morning she was crying at real high pitch. Later that day and the next day she slept, would not cry or wake up to be fed. I had a feeling that some thing was not right but midwives were not concerned and said that "some babies are like this, don't worry".
On day 5 we went home meanwhile her feeding had gone worse. I had stopped breastfeeding & put her on a bottle to measure intake but result was hardly 100ml in 24 hours. Putting cold water on her face or dropping some thing loudly on the floor did not bother her.
Monday, 21st Feb. took Ekta to the GP, he could not figure out what was wrong with her so he referred us to Starship.
We went to Starship after midday where several doctors examined her. They couldn't understand what was wrong with her so around midnight they decided to feed her through the nasal gastric tube hoping that this would give her the energy a newborn requires.
On Tuesday morning, 22nd Feb. doctor informed us that her Guthrie Blood card test result revealed that she had a rare life threatening genetic metabolic disorder called "Maple Syrup Urine Disease" ( MSUD) Possibility of 1 in 225,000 births !
For the rest of Ekta's life we were told she would have to remain on a very strict low protein diet because of the missing enzymes in her body which would process 3 essentials and 1 non essential amino acid that we get from the food which contains protein.
She had to go for homo filtration to filter out the excessive amino acid " Lucine" from her blood. Lucine is a vital chemical for the brain. If the level is high it will damage the brain, if it is too low then the brain won't develop. The treatment lasted for 37 hours. She spent a few days in PICU, by end of the week she was moved to Ward 26B, Neurology ward!
At 26B, first time we met Dr. Callum Wilson, Metabolic Specialist. He explained to us what we could expect from Ekta in terms of her mental and physical development as her lucine level was very high prior to treatment. For a normal infant the level should be below 300 micro mol/Lit Ekta's lucine level was 2,800 because of this she was in coma from 3rd or 4th day of her life.
We spent one week in 26B then went home .Since then we have had countless visits to 26B. With MSUD, even a normal cough or cold can raise the lucine level or if she stops drinking her special formula, as fasting is not acceptable with MSUD.
We were devastated with the thought of her not being able to have a normal life, it took us awhile to gather ourselves , At the same time, I decided to give her a life as normal as possible except food.
Time passed Ekta's development has been absolutely normal, which wouldn't have been possible without the fantastic& extremely experienced metabolic team we have at Starship.
While Ekta was in hospital we became a members of internet based MSUD Support Group. When Ekta was about 2 years old we learnt that a Liver transplant could cure MSUD metabolically though not genetically. The missing enzyme is produced by few different organs in our body and one of the organ is the liver. We looked at the pros and cons of living with MSUD and Liver transplant. The biggest plus point with liver transplant was it would take away the constant fear of brain damage.
It took us a few months to convince LT team to accept Ekta's case for Liver Transplantation.
In March 2008 the LT team put her on the list with no priority. During our LT clinic appointment we met beautiful Tracy from KIDZ foundation , offered us membership to the foundation. Pre-transplant I had attended one morning coffee meeting and learned a lot of 1st hand experience and life with post-transplant from other parents.
On 2nd June 2009 I received a call at work from Liver Transplant Unit regarding a possible liver match for Ekta. Despite all these months preparation I was lost, still do not know how I managed to drive home.
On 3rd of June Ekta was transplanted. We spent two weeks in hospital post transplant. She did suffer two rejection episodes while there but everything worked out well in the end.
Ekta went back to kindy 3 months post-transplant. Now enjoying all sorts of food that she was not allowed with MSUD.
I cannot end this story without thanking the metabolic team, LT team and of course the big-hearted Donor parents.