Case History: Harry Parker

Cambridgeshire, England

When our son Harry was diagnosed with Infantile Refsums Disease he was 22 months old. From birth he had had many small things wrong with him but nothing was pieced together until he developed a vertical nystagmus in his left eye, with further tests revealing the extremely devastating underlying condition. It still makes us cry when we think about that terrible time, the negativity we encountered and the bleak medical prognosis for our beautiful son. As we researched the condition, we read about Dra Manuela Martinez and her work with the peroxisomal and lipid disorders and contacting her proved to be the turning point in how we dealt with Harry’s condition. We arranged to visit the Manuela Martinez Foundation in Barcelona and went with open minds, knowing that she was not promising a cure but hoping that she would be able to help us keep our son as healthy as possible. At that time, Harry had mild hypertonia, particularly in his feet and ankles but apparent in most of his joints. He had recently started walking but was unsteady on his feet, falling frequently. The damage to his eyes was the most significant symptom, with lesions on his macular and general damage to both retinas. We knew his hearing was affected but did not realise how badly until a month later when we found out he had a 65dB bilateral hearing loss. In short, we had a gorgeous nearly 2 year old but nobody had been able to explain to us exactly what was happening to him and no one would talk to us about his future, except to say “prognosis is second decade of life”.

From the moment we arrived we knew we had made the right decision for our family and particularly for Harry. Dr Martinez’s experience with children affected by these disorders meant that she was able to talk to us in much more depth, more openly and with much more confidence about how exactly Harry was affected. The other medical professionals involved in her work there were all familiar with the conditions and so we did not constantly need to explain what it was, how it affected children, the fact it was degenerative, other linked symptoms and all the other things that you can find yourself telling medical staff unfamiliar with peroxisomal disorders.

In our opinion, Dr Martinez’s approach to Harry and to us as his family, made a significant and life changing difference. Under her care, Harry has positively thrived! His diet is well balanced, healthy and relatively easy for us to follow; even allowing for the fact he is a typical stubborn and opinionated 4 year old. After starting the DHA-EE supplements given to us by Dr Martinez and following her dietary recommendations, Harry’s physical condition has not deteriorated in any way, either visibly or in medical tests for the last 3 years. In fact his eyesight has improved and the damage to his retina is now only just apparent. Our specialist in London is very pleased with his progress, as are all the healthcare professionals involved in his care. Harry has even started at our local primary school, where he has astounded everyone involved in his learning. He is developmentally delayed but, with one to one support, he has managed to catch up in some areas. The day he read his first word I had tears in my eyes – it was ‘and’!

From the bleak picture we were presented with when Harry was first diagnosed, we now have optimism that, although he still has this terrible and distressing degenerative condition, we have a son who is able to really enjoy life and get so much happiness from every day. We firmly believe that Dr Martinez has made this gift possible, not only from her medical care but also from the unstinting generosity, honesty and understanding that she has shown us. Words can not thank her enough!