Case History: Matthew Wulf (6 - 9 Years)

Matthews, NC, USA

In Matthew’s sixth year he has shown a consistent pattern of mild atonic seizures upon waking lasting from five to fifteen minutes. These seizures present with widening of the eyes, sometimes shivering, and a very brief loss of muscle tone with a head drop. No medication is required at this time.

November 2003 a MRI revealed good myelination throughout his brain except for tiny areas of immature maturation in the occipital area. There were no active lesions of demyelination. Unaided hearing tests show Matthew responding to voice at 65 decibels, a gain of 15 decibels. Aided hearing tests show him hearing at 35 decibel to voice. He has trouble hearing the soft consonant sounds, and frequently leaves them out of his speech. Matthew’s vision continues to show slight improvement in small increments. The visual evoked potential shows a shorter and shorter response time from the visual stimulation to the registration in the occipital lobe. His ERG remains abnormal, though not extinguished as it was in the past. His retina is showing some response.

Dra. Martinez watches closely for signs of adrenal insufficiency. His adrenal response to the ACTH hormone is very low.

We have begun to do some special exercises shown us by the physical therapist at the Stauros Clinic for his hypotonic feet in hopes of negating surgery in the future. He continues with his aquatic therapy and horseback riding.

Matthew has been a very healthy boy despite his diagnosis, though he is in appearance quite thin. He is kept on his designated diet and supplements. This year has been one of slow steady progress in all areas of development.

At seven years Matthew made history by his unique steady progress in brain maturation, hearing, vision, cognitive ability, and mobility despite the ongoing battle with his disease. Matthew was able to independently go up and down stairs and was even seen attempting to run.

As Matthew’s vision and hearing improve, so does his ability to imitate. He has been imitating occasional vocalizations, engaging in vocal play, singing, and at one point, has spoken a sentence. His socializations skills are better and he has begun to use a multi-meaning icon communication device, the VanGuard. Matthew has begun to engage in daily meaningful interactions with print. His eyes will often track print in a book and he recognizes his printed name, and some letters. Matthew does participate in interactive reading using page turning switch, repeating lines, TeckTalk, interactive boards, and is beginning to understand about asking questions.

May 10th Matthew’s hearing aids were permanently discarded due to functional hearing tests showing response to speech at 20 decibels, though inconsistent. Initially, he stopped word vocalizations for a period of several months. Within the last two weeks of August we are seeing Matthew beginning to imitate sounds again. He said, “Mom” for the first time.

Matthew actively participates in his school routine including shared reading and writing exercises, expressing a thirst for factual knowledge rather than fiction. Communication continues to be the focus of his schooling. Matthew made gains in emergent literacy and use of the Vanguard. Writing has become one of the main means of communication for him. This year Matthew expressed he wanted to become a scientist, “at home with you, Mom.”

Metabolically, it became apparent Matthew needed support for his adrenal insufficiency. Matthew began taking Cortef supplementation in June. His ‘muscle wasting’ appearance disappeared as he gained weight. Also noted were a decrease in anxiety and dizziness. All his labs are normal except for the slightly elevated liver functions and slightly elevated VLCFA’s typical of PBD. Matthew’s left foot still has difficulty with arch collapse and undergoes daily therapy. He continues to wear AFO’s on both feet. Matthew walks about a half a mile a day, rides a therapeutic tricycle, swims, rides horseback, and has recently began bowling… he can even beat Mom!

Matthew’s ninth year began full of successes. Make-A-Wish Foundation granted his ‘wish’, “a swimming pool in the ocean with fireworks,” just before his ninth birthday. He was sent on a Disney Cruise to the Bahamas and met the “ship mouse,” Mickey Mouse. Matthew enjoyed swimming on the ship and in the ocean. His memories are now in a favorite ‘wish book.’ As his writing abilities grow, Matthew weekly writes e-mails to professionals in the community and even has a pen pal from Australia. One of his favorite writing pals is the bank teller, Sarah.

Matthew made his 17th trip to Barcelona. He enjoyed the flight, chatted on his Vanguard, read books, and listened to music on the headphones during the 9.5 hour flight. In Spain he was able to participate in the testing without the usual anticipation and loved his usual visit to the aquarium when finished. Matthew has a good memory of favorite places to visit in the city, commenting about them on his Vanguard. All his lab results are stable. His ERG is showing almost normal waves for his central vision. At the end of his trip, he wrote a book about his experiences using simple phrases and sentences with photographs. April 19, 2007 Matthew underwent cochlear implant surgery. After three months of activation, a speech therapist noted 14 new vocalizations. Six months after activation, Matthew was seen discriminating between the ‘p’ and the ‘t’ sounds. His significant delayed response time to auditory input shows remarkable improvement.

At the end of May, Matthew was awarded the “Yes, I Can” Award for academic improvement and determination. He has progressed from being an emergent reader to an early conventional reader. Matthew passed his grade three level exams with excellent scores. 2007 has been a year of tremendous cognitive growth (or perhaps in our ability to see and measure it).