Anna was diagnosed with MCAD deficiency nearly two years ago. She was seven months old at the time. A few days after birth, she went briefly into intensive care with low blood sugar. At seven months old she came down with the flu and we again ended up in intensive care. All the stories leading to diagnosis seem to be very similar, so rather than go through those details, I'd prefer to focus on life since then.
Living with an infant/toddler with MCAD has been fine. I wish I had been able to read this two years ago. Anna is now two and a half years old, sleeping through the night (most nights!), and doing everything her peers are doing. We now hire babysifters and go out in the evenings. If Anna is tired, I let her oversleep, instead of waking her for a snack. Most of the time, she looks and acts like any other child. The only difference is when she comes down with a bad cold or flu, we might be in the hospital overnight.
Traveling with Anna has been relatively easy. We don't go to very remote places, but I'm not sure we'd want to take any toddler to a remote destination whether or not they had MCAD. We've had to use hospital facilities abroad (in the US and Spain), and this was relatively easy to manage. Although the doctors had never heard of MCAD, we produced a medical emergency letter which outlined the condition treatment required. On both occasions, Anna was fine after a short hospital stay, and we continued the vacation.
Now that Anna is old enough, she goes to nursery school and gets her fair share of minor childhood illnesses. Most of these we are able to manage at home. With a bit of help from 7-Up and Coke, her sugar intake is adequate and she recovers quickly. I do hate to see her sharing drinks with runny-nosed children and eating biscuits off the floor, but I also know that she needs to be treated as a normal child as most of the time she is normal.
Anna has been taking L-carnitine supplements for nine months, and the difference has been extremely encouraging. Carnitine is not routinely prescribed for MCAD in the UK. Through this newsletter and a friend working for a metabolic clinic in Oregon, we found enough information to urge our doctor here to try it. I am very pleased we did. Anna's energy level is much more stable throughout the day, and in general she has more stamina. I understand that most children in the States are given carnitine routinely, and I hope it becomes the accepted practice here. I since have met with Professor James Leonard, the MCAD specialist at Great Ormond Street (London). He currently looks after 35-40 children with MCAD and is hoping to run a drug trial with carnitine in 1999.
Our pediatrician in London is superb. Dr. Ed Abrahamson was on call when we arrived at the hospital. Anna had the flu, but started throwing up blood (in hindsight it was from severe acidosis as her body desperately tried to convert fat).
Ed made some very good decisions about her care, and got her into intensive care at the right time. He then followed up with blood and urine tests to confirm the diagnosis he suspected when he first saw her.
He provided us with all the information available at the time, and he keeps us up to date with new journal articles. We see him twice a year now for routine check-ups, and really look forward to seeing him.
With such a bright and supportive doctor behind us, I feel very confident. I can also relax a bit when Anna is in overnight as Ed and his team know exactly what to do.
My only ongoing concern now is that Anna's energy level seems to swing quickly as do her moods. We are constantly reassured that MCAD should have no effect on her stamina or her personality. However, much like a parent's intuition about a sick child, I do think there is something going on with her moods, possibly linked to low blood sugar as she improves dramatically with food.
She also has terrible tantrums before breakfast. Have any other parents noticed anything similar with their MCAD children? I would be really interested in hearing from you.
In the past two years, we have had to get through some difficult moments. However, living with MCAD has become much easier. This is partly due to Anna getting bigger and physically being able to cope with more strain on her body, and partly due to our greater understanding and sensitivity to Anna's condition. It is a constantly shifting balance, but it only gets easier. If I had only known this two years ago, the diagnosis might not have seemed so overwhelming. I am sure that life now will only continue to improve.
The most encouraging thing I've heard so far was a passing comment from Professor Leonard. I asked him about what was in store for us as our daughter grows up. He said he really didn't know as children beyond eight years old (note-only from his observations) no longer require any hospitalization. However, an old patient of his recently got in touch to say he had just graduated from medical school!
Best wishes to those parents who have only recently been given the news about their children. I know every family is different, but I can honestly say that MCAD has been very easy for us to live with.
Catherine & David Walker