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MCADD = Medium Chain Acyl-CoA Dehydrogenase Deficiency


Kira Hurst

Kira's MCADD Story

Kira was a typical 18-month-old little girl, playing games and singing nursery rhymes. On 21st October 2003 I woke Kira at 7am to get her ready for nursery. Kira did not seem herself at all, so I phoned the nursery and told them she would not be in. I stayed home from college to help my partner to look after her.

Throughout the day, Kira's condition worsened. I made an appointment with her doctor for the next day and just kept giving her Calpol for her pain and temperature. She had been diagnosed a few days earlier with a viral infection. Later on in the day, Kira started to vomit. She wasn't eating, so we knew just to keep giving her fluids.

Most of the day Kira had been quite lethargic, but around 6 pm she seemed to brighten up a little bit and was sitting on my knee playing games and singing nursery rhymes... all of a sudden Kira's color drained from her face and her eyes changed and she went very floppy. I shouted to my partner and he came in to the front room.

We thought Kira had died right there in my arms.

We immediately phoned for an ambulance. They were there within minutes, and found she was breathing and had a pulse. Kira was rushed straight into the crash room (ER) at our local hospital. Fluids had to be given to her through a bone in her leg because all her veins had collapsed. She was then admitted to the children's ward.

Kira's blood sugar level had dropped down to 1.2. It should have been 6.2. The consultant thought she was hypoglycemic but said he would, however, send some of Kira's blood to a specialist at another hospital to make sure she didn't have anything else that might cause it, and it would take around 3 weeks to get the results. She was sent home 2 days later.

About one week after her crisis, my health visitor came to our home to tell us the consultant needed to see us and that it was urgent. We went the same day. This is when she was diagnosed with having MCAD.

This was a very scary moment and it still has not sunk in properly and will probably take a while, but we are so thankful that she has been diagnosed early and there was no permanent damage because she was treated appropriately.

Due to the fact she was in my arms when she went limp, and the doctors quickly spotted the low blood sugar level and took steps to correct it, Kira is alive and fine. We were so lucky not to lose our little princess, and we think it should be something every baby is tested for when they are born. If we had known before she got sick and couldn't eat, then we would have known what to expect and could have avoided her crisis.

Every time Kira gets ill now we can take her straight to the children's unit instead of having to go to the ER. This helps a lot and we know we can phone any time day or night for advice. I am very grateful to Dr. Levy and all the other medical staff that worked on Kira that night.

They saved our baby's life.

Kane & Paula Hurst
Manchester UK

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