The day Joshua was born was a very happy one, June 23, 2001. He was a healthy little boy and took to the breast straight away. All went well with feeding and everything seemed perfect. After about one week, Joshua fussed at the breast and seemed to have forgotten how to feed. We were becoming concerned about his feeding, and our baby Josh was losing weight. He still hadn't regained his birth weight. Josh was put on the bottle as breast feeding didn't seem to be satisfying him - at least we could see what he was actually getting. Josh started to scream all the time. He would sleep for about 10 minutes to about half an hour and then wake up. His body would go stiff when he cried, and his arms moved as if he were climbing a rope. We thought he had really bad colic. The midwife was becoming concerned and helped us as much as she could. We even took him to our doctor, and he seemed to think Josh was fine.

At two weeks of age, we received a phone call from a doctor from Elizabeth Hospital where I gave birth to Josh. He asked me to come to see him straight away. Once there, I was informed that Joshua's Guthrie test had shown he had MSUD. Thankfully, South Australia has offered tandem mass spec acylcaruitine and amino acid profile newborn screening for the last two years.

This news was devastating: this beautiful little boy had a disease for the rest of his life. Why Josh? We were then referred to the Women's and Children's Hospital where we met Doctors Janice Fletcher and Michael Metz from the metabolic unit. Treatment started straight away and slowly, but surely, Josh changed from a screaming, irritable baby to a very contented baby.

The Metabolic team is fantastic; just seeing their faces when Josh is sick makes us feel so much better. We still have a lot to learn about MSUD, and some of the things we have already learned are pretty scary, but Josh has handled his first virus and immunization very well.

At first we didn't like taking blood from Josh, but now it doesn't bother him and is part of our regular Sunday night routine. Now we just remind ourselves that this is a necessary part of Joshua's life. As Josh is only one of two people in South Australia with MSUD, there is little experience and only limited information on MSUD here. So we surfed the Internet searching for more. Thankfully we found the MSUD Family Support Group site. After reading all the newsletter articles on the site, we now have a better understanding of MSUD and what to expect in the future. Although not all the news was good, we know that it's not all bad either, and we are better prepared for the days ahead.

We were very happy to meet Kym and his family recently. Kym is 15 and the only other MSUD case in South Australia. It was reassuring to see such a healthy, energetic young man with the same problem as our Josh, and to see he is doing so well.

Josh is now 10 weeks old and doing very well. He loves his bottle and is putting on weight every day and responding to us with big, beaming smiles. His progress is that of a normal, healthy, little boy with no apparent damage from the early effects of MSUD.

We are very thankful that Josh has such a wonderful group of doctors looking after him - not only that, but they look after us, too.


The MSUD Family Support Group is currently funding several research projects and we are proactively looking for researchers interested in developing new treatments or finding a cure for MSUD. Significant funding is necessary if we are to accomplish this goal.
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