Case History: Anderson, Cameron

Somerset, England

Cameron was born on 28th August 1997 after a normal pregnancy with no complications. My first indication that something could be wrong was when the midwife who delivered him, suddenly became quiet and concerned. He hadn't cried after his birth, he was having trouble keeping his temperature up and he had very low tone. Just days after coming home from the hospital, we were back in for light therapy, a treatment for jaundice.

At three months he returned to hospital with reflux and failure to thrive.  From that point on numerous tests were started. We were told that Cam had certain syndromatic features such as a wide bridge of the nose, wide set eyes, low set ears, single palmer crease, shortened limbs and a dimple at the bottom of his back. A week after his first birthday he was finally diagnosed as having a Generalized Peroxisomal Disorder. That same day he was diagnosed as being severely visually impaired. Within a couple of weeks, after the hospital ran more tests, it was discovered that he had adrenal insufficiency.

We contacted RTMDC (now known as CLIMB) who got us in contact with a family whose little boy had the same condition. They introduced us to a list for families coping with Peroxisomal Disorders. It was from that list that we heard about Dra. Martinez's study. I copied Cameron's medical notes and sent them to Dra. Martinez. We got an immediate response. I read some research papers from medical journals on her study. We were really impressed, so after teething problems, we arranged blood to be sent to Barcelona. This was shortly followed by our first visit.

Cam's DHA levels tested as being significantly low, his ALT (liver function) levels were in the three hundreds, his myelin was under developed and his vision poor. We started the DHA immediately and Dr. Martinez made changes to his diet to make it less high in carbohydrates, and more nutritious including more of the important essential fatty acids. We also introduced him to an infant formula high in DHA as well as AA.

It was during our stay in Barcelona, no more than two weeks after starting the therapy, we noticed the first sign that the DHA was helping. Before starting the treatment Cam's ophthalmologist had told us that Cam was seeing light and dark but not much more. He had previously suffered some nystagmis which stopped after starting the treatment. The biggest shock though was watching our son on a metro train, flicking his eyes from person to person and looking around as if he'd opened his eyes for the first time. From there we saw an improvement in his muscle tone, a decrease in his liver enzymes, better weight bearing on his legs and just an improvement in general. At last we felt like there was hope; a way to do something positive for our son. And as well, we had found a doctor who had a deep understanding and great knowledge on such a rare condition. It was a great comfort to us.

Cam has continued to do well since that first visit. An MRI head scan done at four years of age revealed that his myelin had almost normalized. We'd never even dared to hope for such results. He has also recently learned to pull himself to stand from sitting on a small chair. Cam is learning to walk in a walking frame and can even bear weigh on his legs well enough for us to walk behind him manipulating his legs to simulate walking. I have no doubt in my mind that (as well as the great support and dedication from Cameron's school and specialists here in Britain), the supplementation of DHA has had a great contribution to his continued health. We have had times where we were unable to keep him on the DHA treatment and had to take a break (due to problems our end). Every time this has happened, we see a wonderful response almost immediately when he is back on the DHA. We have noticed little things like the broken veins in Cam's cheeks becoming worse when off the treatment as well as unexplained bruising. There is a noted improvement when back on the DHA.

We are so grateful to Dr. Martinez for her dedication and hard work in continuing the study. She has provided a way forward for Cam and children like him when nothing else was available.