Ekta Kapadia lives on the North Island of New Zealand. Born in February of 2005, she was diagnosed at 9 days of age by the Guthrie test through newborn screening. Upon diagnosis, she was hemodialyzed and her amino acid levels normalized.
Ekta is one of only 2 people with MSUD in New Zealand. The other is a girl in her twenties who lives on the South Island. Ekta is cared for at Starship Children’s Hospital in Aukland.
Her blood amino acid levels are monitored twice weekly, and results are available in less than one day. The hospital arranges for, and pays for, her metabolic formula and low protein foods.
Ekta has only had 1 metabolic crisis since her diagnosis. Withdrawal of protein and naso-gastric feedings of metabolic formula normalized her levels. Branched chain-free TPN is not stored in New Zealand, but can be obtained quickly if needed.
While MSUD is rare in New Zealand, Ekta is under the care of a metabolic consultant who trained in England and has cared for a number of children during his training. Although he was overseas when Ekta was diagnosed, he was able to successfully manage her care remotely.
Ekta turns 2 in Feb.2007, and will be going to a kindergarten 2 afternoons a week. She does not appear to have any delays. She sat at five months, crawled at 8 months and started walking at 10 months. She understands two languages (English & Gujarati-Mother tongue), speaks a few words, and has already developed a pincer grip. She can recognize the star shape and says "staa". She can climb a 5-step high slide by herself and slides down too. Like any typical almost-two year old, she prefers not to share her toys with her older brother.
She likes to play with her doll and take her for rides in a toy stroller. She even pretends to give her doll a heel prick test with a pen! When told that it is time for her heel prick, she goes and gets the lancet and card by herself.
While Ekta drinks her formula willingly, she has a difficult time with solids. Interestingly, she is more likely to eat solids when her leucine level is high (>300). She currently gets 4 grams of protein (8 leucine exchange) daily.
The Kapadia family feels that the facilities in New Zealand are on par with the best anywhere, and feel fortunate in the care that she receives. However, they are interested in liver transplant and have already seen a transplant surgeon once. Her metabolic consultant is very much in agreement with this plan. The main sticking point is the scarcity of donated livers in NZ. They are currently exploring the possibility of using a living related partial liver transplant.
MSUD in New Zealand - Ekta Kapadia