Case History: Corey Smyth

Dublin, Ireland

Our son Corey was born on 12/09/93 after a difficult pregnancy but a relatively easy birth. At birth it was very obvious that there was a problem with our little boy. He was very 'floppy' and had facial features rather similar to those of children with Down Syndrome. A few hours later when I tried to feed him, we discovered that he could not suck, and despite constant pressure he would take very little. Corey became very jaundiced and as a result began a barrage of tests to find out what was wrong. Nothing showed up abnormal in any of the laboratory tests. At home, we continued to try to feed him orally. His condition became worse and worse, until at eight weeks old he was hospitalised with what was thought to be a liver problem and weight loss. He deteriorated very quickly, starting with loosing all his ability to swallow, making it necessary to tube-feed him. It was not until 20 weeks later, after a liver and skin biopsy had been performed, that we had a diagnosis: Zellweger’s Syndrome. We were told the facts of this horrendous disorder: there was no known treatment and Corey, being 5 months old and very badly affected, would not live very much longer.

Further tests had come back saying that our son was deaf, blind, and, to put it mildly, in a vegetative state. I found this unbelievable because Corey reacted to moonlight and closed his eyes in sunlight. He would stop crying when he heard my voice and would turn to look at me. I was sure he had some vision and hearing and he was reactive. I decided to look to other countries for treatment for our son. This took a long time as there was no information on this disorder in Ireland. In fact, no one had ever heard of it, even the doctors. I will be forever grateful to a great friend of mine, Eithne Dunne, (who is a member of the CLIMB organisation in Britain, previously known as the RTMDC), who gave me the RTMDC telephone number and supported my family through this difficult time. From information received from the RTMDC, I contacted Dr. Moser, a lovely man who gave me a contact number for Dra. Martinez.

Five months later we travelled to Barcelona, Spain, in the hope that Dra. Martinez could do something. We didn’t have much hope; it was obvious that Corey was dying. I was thinking that even if Corey didn’t live, then at least if he tried the DHA treatment, something could be learned from his case which could help other children who suffer from this horrible disorder. Corey improved beyond our wildest dreams! In Barcelona, he was hospitalised immediately and his diet changed. He had been tube-fed on normal baby formula for some months, but now was placed on a more appropriately fat balanced milk and started on the DHA therapy. The blood analysis showed that his DHA and plasmologen levels were very low and that the VLCFA’s very high. Within five days of commencing treatment we could see a difference: he became much more reactive, began babbling, stopped shaking, became less floppy, and his nystagmus stopped completely. The most startling change was that he started to nurse and was able to take his feedings from a bottle (something he had never been able to do). He stopped crying (marvellous for me) and after three weeks he began to roll from one side to the other. We then started feeding solid foods, which proved difficult at first, but eventually improved. This of course meant we could give him a complete diet and he really enjoyed biting and chewing. After six weeks we returned to Ireland with a completely different child; he did not even appear delayed in any way.

Over the years Corey did improve, returning to Barcelona every six months. I found that he thrived in Barcelona, much more so than at home. His facial features changed and now he looks just like any other little boy. The follow-up treatment in Ireland was dreadful. He had very little physical therapy and no speech therapy. He was weighed and measured at hospital appointments and little else was ever done. The dieticians frequently tried to change the diet and we had quiet a fight on our hands in regards to giving the DHA. I had expected much more on-going treatment in Ireland and some form of an educational program, especially as Corey was progressing so well. He learned to sit and had some speech from what I had taught him. However, there was such a delay in appointments and follow through on appointments, that very little was ever done. His sight and hearing continually improved, although he has not had many tests performed. Corey’s MRI is fine and he doesn’t have any seizures. Unfortunately, we found that we had to do everything ourselves and fight for everything for our son.

During the last two years Corey has been ill; he has kidney stones, chest infections, and now dislocated hips. However, over the last few months, he has once again improved. He has gained weight and seems to be able to fight infections a lot better than previously. His hips are a serious problem; he is very frustrated that he cannot move the way he wants. Corey’s speech continues to improve, and he can take and hold things better than before. His ability to comprehend is wonderful; he answers when asked to do something.

We are hoping to return to Barcelona this year for a check-up. Corey has not been there for 18 months due to ill health. Hopefully, we will see further improvements. Corey is now nine years old, and has a very strong character. I am very happy that we made the decision to bring him to Dra. Martinez for the DHA treatment as it has given him the life and indeed the quality of life that he fought so hard for. We will be forever grateful to Dra. Martinez for the chance she has given our son and for her dedication to all the children in this trial study. We would also like to thank the Spanish health system and, indeed, the Materno-Infantile Hospital in Barcelona for the devoted treatment they have given Corey over the years.

I am delighted that Dra. Martinez has set up the foundation and has her own web page. It will be so much easier for other parents with children suffering from PBDs to get information. When we started looking for information on any available treatment for Corey we did not have the internet and information was very difficult to find. It was only through persistence and our own downright arrogance to the doctors here that we discovered the DHA treatment. Hopefully now, things will not be too difficult for other parents and their children will get the follow-up treatment that they need.

Dra. Martinez has proved to be a light at the end of a very dark tunnel. Her care gave life to our son. Now he has quality of life rather than a death sentence hanging over his head.