A smart person knowing that they have to be up early would go to bed at a reasonable time. I stayed up late and it took all my strength to leave my bed this morning, so sadly I can’t join the ranks of smart people. Luckily I was only in till 1 so I was able to go back and sleep; it was a glorious 3 hour nap.
Anyways, what did I do today? I observed a diabetes/metabolic clinic with Dr T and Dr C, a Consultant Paediatrician from London who specialises in metabolic conditions. Dr C was very nice and had such great rapport with both the children and parents he talked to. He constantly stopped to explain terms and abbreviations to me when I looked confused, and really broke things down for me to understand. Today I was introduced to MCAD and PKU, two rare-ish autosomal recessive conditions that newborns have recently started being screened for in the UK.
Medium-chain-acyl-CoA dehydrogenase (MCAD) deficiency prevents the body from converting fats to energy during fasting periods. Symptoms of MCAD are hypoglycaemia, vomiting and lethargy, and once diagnosed it can easily be treated by avoiding long fasting periods between meals, and keeping up a healthy diet. The parents of the patient that came in with MCAD were advised by the dietician present to make sure their child had a low fat diet, and to regularly monitor her blood glucose levels.
Phenylketonuria (PKU) on the other hand, is when phenylanaline, an amino acid in proteins, can’t be metabolised by the body, causing it to build up and this can lead to problems in brain development in younger patients, as PKU has been linked to lower IQ and some mental problems. So treatment for this is a strict low protein diet with protein substitutes that don’t have phenylalanine. The 4 year old boy with PKU that came was a little chatterbox, but Dr C was pleased with his progress because he’s just started school and is doing well. He could speak English, Spanish AND Portuguese, muy impresionante!
During the clinic I met representatives from Vitaflo and Nutricia, which are companies that specialise in low protein food products for PKU patients. These products are only available through prescription as they’re in such a niche market, but they are funded by CCGs so patients don’t have to pay for them. I was offered a low protein chocolate chip cookie to try and it was really nice; tasted no different from cookies in the shops. Vitaflo and Nutricia also do chocolate bars, milk, bread, Easter eggs, advent calendars and I think it’s great that they do, because little kids with PKU won’t feel any different/left out from their peers in school, as they can now have chocolate bars too.
After we saw the final patient I was treated to lunch by the doctors and they gave me some stuff “for future reference”. Dr C actually wrote one of these books but refused to sign it for me… darn.