Case History: Matthew Wulf
Matthews, North Carolina, USA
Matthew Andreas Wulf was born December 3, 1997 after a normal pregnancy and delivery. He weighed only 5 pounds, 9 ounces. We suspected at birth he had a peroxisomal biogenesis disorder by his wide cranial sutures and the crease at the end of his spine, however, the doctors gave him a clean bill of health, except for failing the newborn hearing screening test. He was a little jaundice and stayed an extra day in the hospital under the lights. During the next few weeks, Matthew had difficulty gaining weight and he was extremely fussy. Sometimes he would profusely perspire, soaking his clothing and his joints would creak. At 10 weeks, he was hospitalized as "failure to thrive" and the diagnosis was made of Infantile Refsum’s Disease due to his older brother, then 19, as having IRD. Matthew had begun to have the waxy clumps in his stool just like his brother had before he developed an intracranial bleed at 7 weeks old. We immediately requested Matthew be put on vitamin K, and began to look for any new treatment that would help him. Further tests showed that Matthew had an 80-90 decibel hearing loss and could only see bright lights. His DHA blood levels were low, and the 26:0 and 26:1 very long chain fatty acids (VLCFA) were high. His liver was enlarged and its functions measuring high as well, indicating liver damage. He suffered from hypotonia and ataxia; his joints seemed double-jointed. Matthew’s development milestones were delayed. We began immediately with the Early Intervention Program and he was fitted with hearing aids at five months.
Below is a birth photo and the other is at six months.
We came to understand that DHA supplementation might help Matthew’s condition and to gain the greatest benefit from the DHA treatment, there was an age window from birth to six months that if given during this period seemed to produce the greatest gains and prevent the most damage. It was suggested we look in the health food stores to find some DHA to give him. After finding a product called "Neuromins" by Martek Labs, we started him on 200 mg of an impure form of DHA. This product started to drop the VLCFA’s in his blood. Our continued searching led us to Dra. Manuela Martinez in Barcelona and her research of DHA treatment for children with peroxisomal biogenesis disorders. We tried to obtain a pure form of DHA in the States, but the only formula that was available was used in a double blind study and contained arachidonic acid in it as well, which can compete for DHA receptor sites. This formula was not adjustable to an individual baby’s blood work. At the end of four months, Matthew made his first flight to Spain’s Vall d’Hebron Maternity-Children’s Hospital. He weighed only 11 pounds and had esteatorrhea (fat in his stools) measuring 4+ (the highest possible measurement). His brain myelination was still at newborn levels. May 5, 1998 Matthew began treatment with 300mg DHA ethyl-ester and solid foods were introduced, including chicken, fruits, rice, and carrot cereal. Twenty days later Matthew’s esteatorrhea was non-existent, and he had gained nearly 2 pounds. The gastroenterologist wanted to know what kind of fat restricted diet he had been put on to clear his stools of fat so quickly. The fact was Matthew’s dietary fat intake had increased; the difference was in giving him the DHA-EE. His hypotonia was better, and his liver transaminases continued to fall as well as blood levels of VLCFA. Below are two photos: the first before DHA treatment, the second is 20 days later.
Everyone agreed this was not the same baby coming back to the United States who had left one month earlier for Barcelona. We were hoping his notable progress would continue. After a year, Matthew made many more improvements. His vision improved to where he could track objects. He had not developed any retinitis pigmentosis classic to this disease. His hearing, with hearing aids, was within the voice range. The muscle hypotonia and ataxia was better. At 18 months, Matthew’s brain myelination was estimated at 12 months. By 2 ½ years, it was completely normal for his age. Matthew continued in sensory integration therapy, speech therapy, occupational and physical therapy. Every six months, Matthew returns to Barcelona to see Dra. Martinez who analyzes his blood, updates his progress by various tests, and makes recommendations based on her findings. Below are photos of Matthew at one year and two years old.
During Matthew’s third and fourth years we continued to refine his diet, adjust his DHA dosage, and his supplements according to the laboratory findings. We also enrolled him in Dr. James Heubi’s (Pediatric Gastroenterologist and Nutritionist) clinical research study on cholic acid in Cincinnati, Ohio. We learned that Matthew had sustained very little liver damage with minimal scaring. At one point Matthew’s DHA intake became too low and he began to have trouble eating, was very irritable, and experienced apnea seizures. Within 10 days of increasing his dose of DHA, the apnea seizures disappeared and he regained his appetite. Matthew has a normal diet for a child, minus green leafy vegetables and fatty meat (he eats lean beef, chicken, turkey, lamb, organically grown beef liver and heart, salmon, and white fish). He also gets one DHA egg per day. His vitamins include a multiple plus one ADEK tab per day, and extra vitamins C, K, and E. His thyroid and adrenal functions show slight deficiencies; he takes a small dose of synthroid. Matthew’s liver functions fluctuate just above the normal level, there is no accumulation of VLCFA in his blood, and his blood plasmologen levels are good.
At five years old, Matthew is attending Weddington Elementary Pre-school. He is able to identify his primary colors, shapes, match letters and objects, turns pages in books at the right time, and can follow one-step directions. He is an active, social, and affectionate little boy. He loves music, rhythm, swings, and Duplos. Matthew goes to aquatic therapy three times a week and rides horseback once a week. He walks independently and is so proud of it! His vision skills and cognitive development continue to improve. The ophthalmologist reports he has normal eyesight with no signs of any pigment in the retina. He has spoken about 20 words but only uses a few of them consistently. His awareness to speech sounds unaided has improved to 65 decibels.
Matthew has 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 their generosity and kindness to us. We also are thankful for the persistence and vision of all the therapist, teachers, and clinicians who 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.