Matthew Andreas Wulf was born December 1997 at full term weighing only five pounds, nine ounces. Presenting with wide a cranial fontanel, a crease at the end of his spine, and a failed newborn hearing screening, the doctors still pronounced Matthew healthy. Being a little jaundice, he stayed an extra day in the hospital under the ultraviolet lights. However, during the next few weeks, an extremely fussy Matthew struggled to gain weight. We suspected something was wrong when his profuse perspiration soaked his clothing, but his diaper was dry.  Then we noticed creaking knee joints and waxy clumps in his stools. At nine weeks, he was hospitalized as failure to thrive and diagnosed with Peroxisomal Biogenesis Disorder, (Zellweger’s Syndrome). Further tests showed that Matthew had an 80-90 decibel hearing loss and could only see very bright lights. His DHA blood levels were low, and the 26:0 and 26:1 very long chain fatty acids (VLCFA) were extremely high. Because of his enlarged liver and high liver functions, the doctors prepared us that Matthew’s  liver had already sustained damage, meaning his life could be very short. Our baby boy also suffered from hypotonia and ataxia and his joints seemed double-jointed. What was more, Matthew’s developmental milestones were delayed. Involvement with the Early Intervention Program began immediately and he was fitted with hearing aids at five months. A birth photo and another at six months is below.

We came to understand from research that DHA supplementation might help Matthew’s deficiency, and that ideally DHA should be given within the window from birth to six months. Children treated within this time frame seemed to make the greatest gains while it prevented more serious damage from the peroxisome dysfunction. It was suggested by Matthew’s doctors that we look in the health food stores for DHA. After finding a product called “Neuromins” by Martec Labs, we started Matthew on 200 mg of DHA-TG from algal oil. Our continued searching led us to Dra. Manuela Martinez in Barcelona, who had discovered the DHA deficiency in children with Peroxisomal Biogenesis Disorders (Zellweger’s Syndrome) and devised a treatment of 98% pure DHA in an ethyl ester form. The only DHA formula (Formulaid) available in the United States was being used in a double blind study and it proved to have no beneficial effects on children with ZSD. Since we understood that time was of the essence for our son, we did not choose to become involved in a double blind study where he may or may not be receiving DHA.

At the end of four months, Matthew made his first flight to Spain’s Vall d’Hebron Maternity-Children’s Hospital. Weighing only eleven pounds, his steatorrhea (fat in his stools) measured 4+ (the highest possible measurement). From an MRI we learned that his brain myelination was still at newborn levels. May 5, 1998 Matthew began treatment with 300 mg DHA ethyl-ester and shortly after solid foods were introduced, including chicken, fruits, rice, and carrot cereal. Twenty days later Matthew’s steatorrhea was non-existent, and he had gained over two pounds! The gastroenterologist asked what kind of fat restricted diet Matthew was on to clear his stools of fat so quickly. The fact was Matthew’s dietary fat intake had increased; the difference was the DHA-EE and its effect on his liver’s bile production. His muscle strength seemed better, and his liver transaminases continued to fall as well as his blood levels of  VLCFA. The photos below are of the day before DHA-EE treatment, and the second is twenty days later.

Back in the United States after a month long stay in Spain, doctors and professionals agreed that Matthew was not the same dying baby who had left four weeks ago. We were hoping his notable progress would continue. Within his first year Matthew made many more improvements. His vision improved to where he could track objects. He had not developed any retinitis pigmentosis classic to Peroxisomal Biogenesis Disorders (Zellweger’s). His hearing, with his hearing aids, was testing within the voice range for the first time. The hypotonia and ataxia were still present, but had much less impact than before DHA treatment . At eighteen months, Matthew’s brain myelination was estimated at twelve months. By two and a half years, it was completely normal for his age. Matthew continued in sensory integration therapy, speech therapy, occupational and physical therapy. Every six months, Matthew traveled to Barcelona to visit Dra. Martinez who analyzed his blood, updated his progress by various tests (MRI, EEG, ERG, VIP, hearing tests, etc.) and made individualized recommendations based on her findings. Below are photos of Matthew at one year and at two years old.

During Matthew’s third and fourth years we continued to modify his diet, adjust his DHA dosage, and his supplements according to the laboratory findings. We also enrolled him in a clinical investigation study on cholic acid, a bile precursor at CCHMC, Cincinnati, Ohio, directed by Dr. James Heubi, pediatric hepatologist.   We learned from a liver biopsy that Matthew had sustained very little liver damage and had minimal scaring. At one point when Matthew’s DHA intake (DHA-EE 100mg/day) became too low, he began to have trouble eating, became very irritable, and experienced apnea seizures. Lab reports revealed Matthew’s plasmalogen level had dropped with the lower dose of DHA-EE. Within ten days of increasing his dose of DHA-EE to 200 mg/day the apnea seizures disappeared; he regained his appetite and happy posture. Matthew had a normal diet for a child, minus green leafy vegetables, fatty meat, and high fat dairy products. His daily vitamins included a multiple plus one ADEK tab, and extra vitamins C, K, and E. Because his thyroid and adrenal functions indicated slight deficiencies, he also took a small dose of synthroid for a period of time. Matthew’s liver functions fluctuated just above the normal level while his blood plasmalogen ratios remained within normal range, and at the same time he maintained a lower level of VLCFAs in his blood.  Below are photos of Matthew at age three and four.

At five years old, Matthew attended Weddington Elementary Pre-school. He was able to identify his primary colors, shapes, match letters and objects, turns pages in books at the right time, and followed one-step directions. He was an active, social, and affectionate little boy. He loved music, rhythm, swings, and Duplos. Matthew participated in aquatic therapy three times a week and therapeutic horseback riding once a week. Shortly before his fifth birthday he took his first independent steps. Slowly his vision skills and cognitive development continued improvement. Matthew’s ophthalmologist reported again that he had no signs of any pigment in his retina. He had spoken about twenty words intermittently  but he only used a few of them consistently. His awareness to speech sounds unaided improved to 65 decibels. The photo of Matthew below was taken at age five.

Matthew had progressed far beyond what we thought possible when we set out to write a different story for our son. We are ever grateful to Dra. Martinez’ untiring dedication to the international family of children with Peroxisomal Biogenesis Disorders and to the country of Spain for its generosity and kindness to us. And how can we ever thank Dr. James Heubi for the success of the cholic acid?  We also are thankful for the persistence and vision of all the therapist, teachers, and clinicians who have so faithfully work with Matthew. The future is yet to be written, but for today there has been success in writing a different story for Matthew.