Matthew Wuest
Born 09/03/1988
Written by Liz Wuest

Medical History
Matt was born a week late with an induced labor. His Apgar scores were 8 and 9 (higher that his brother’s).

Matthew Pictured with Dad, Joe and Brother Rob"

We went home. The only problem was his reluctance to feed. He would go eight hours between feedings. At four months, there was concern he was not holding his head up and his testicles were high. At six months, came the label of “failure to thrive”. Check back in a month, after seeing pediatric gastronologist. Also, see an ophthalmologist, as Matt’s eyes were turning in. The gastronologist felt Matt’s eating problem was not digestive but related to the brain. Suggested a CAT scan. Matt’s first appointment with Dr. King, an ophthalmologist, ended a new term - Ocular Motor Apraxia. He also suggested a CAT scan.

1989
On March 20, 1989, Matt was admitted to Children’s Hospital in Denver, as “failure to thrive”. He was the hit of the ward. Everybody wanted to see him and feel his legs. Matt had the lumpy skin on his thighs, plus his legs felt plastic like a doll’s. Tests ran included blood, urine, spinal tap, MRI, complete skeletal X-ray, nerve conduction, ultrasound on liver and kidneys. Results were underdeveloped cerebellum; amino acids - ok; nerves and muscles - ok; enlarged liver and kidneys; high protein (54) in spinal fluid; TSH was a tad high; bones - ok. PT and OT were suggested. Luckily, Matt was a social baby. He didn’t mind at all being poked or prodded. He just smiled a lot. There was one procedure that did make him kick and scream - X-ray. (To this day, Matt will throw a fit if he has to be X-rayed.) There was a possible diagnosis - Zellweger’s disease. It was a fatal liver problem. We had to wait a month for the results. That waiting was the hardest for me. The result was negative.

In May, he saw an endocrinologist. She suggested the label of Septo-Optic Dysplasia because of the small optic nerve and low thyroid. Also, he did a BAER (Brainstem Auditory Evoke Response). It was normal. His VER (Visual Evoke Response) was abnormal. He had no ERGs (deletroretinagrams). The next test was a skin & muscle biopsy. Results were normal. The neurologist couldn’t think of anything else to do. Agreed with Septo-Optic Dysplasia. In the meantime, Matt had trouble with sinus and ear infections. He was referred to an ENT doctor.
September, Matt had tubes put in. Also, his endocrinologist was worried about his weight. Plus, his neurologist said there was no need to see him anymore.
November, Matt’s strabismus stabilized at 50%. Surgery was scheduled for December. At surgery, blood was drawn to test for growth hormones.
December, Had the results of growth hormones - normal. Doctor felt Mat needed more calories for growth. Also, tubes came out. Instead of reinsertion, started preventive low-dose antibiotic therapy.

1990
January (‘90), Matt saw Dr. Matthews - Rehabilitation. He suggested feeding therapy.
February. His endocrinologist is very concerned about weight. She felt double hernia.
March. Saw dietitian. She recommended tube feeding. I told her and the doctors I could not put a tube in Matt’s nose for feeding. Opted for surgical implant. On March 27, 1990, Matt had double hernias repaired, dropped testicles and inserted G-tube. Matt’s left testicle was enlarged to the size of an ovary. A slice went to pathology. It was all testicle. The right had to have its main artery cut in order to descend. It seems not to have survived.
October 5, 1990, Matt had his first grand mal seizure. Matt had to be seen by a neurologist before being released. A new one was called in. He remarked on Matt’s history. He asked whatever happened to the large liver. I said nothing. He suggested we need to follow-up on that plus Matt needed an EEG. EEG was normal. In October Matt saw a cardiologist. His pediatrician had heard a small heart murmur. The doctor stated it was an “innocent” heart murmur (1.5/6), typical of underweight children with metabolic problems.
December, Matt received his first eyeglass prescription (-4.5/both eyes). Plus, we saw Dr. Greene - Metabolic for the first time. To do certain tests, she had to draw blood straight from the neck.

1991
January of 1991, brought us to see Dr. Sokol - GI/Liver. Liver was large. Did needle biopsy in March. Result was a scarred liver.
May, Matt had fever of 103 degrees. Had a grand mal seizure.
June, had consultation with Greene & Sokol. Matt’s liver biopsy showed high levels of glycogen. Sample needs to be sent to Duke University. Greene thought Matt had an energy metabolism syndrome.
August, open liver biopsy was done. Dr. Sokol suggested a special ultrasound to check the blood flow through the liver. It was fine.
October. Tested for reflux. Given Reglan. Used it for several months.
December. Matt got his first pair of AFO’s. Also, did X-ray for chronic sinus congestion. Result was negative.

1992
March of 1992, Sokol & Greene reported all results were normal. Matt was improving. Nothing to do but check back.
August. Matt got his wheelchair. School needed it. At this time, Dr. Sokol & Greene admitted they had run out of tests. We asked for a second opinion. Dr. Greene suggested Dr. Valle at Johns Hopkins. Again for a week, Matt went through a battery of tests. Within 48 hours, Dr. Valle had a possible diagnosis - CDGS.
November 26, 1992, Matt’s test result was back from Belgium - confirmed.
December Found out Dr. Jaeken was going to be in Miami in December. Flew down to meet him.

1993
1993 brought several more seizures. Lumpy fat started to come back. Another EEG was good. Continued sinus and ear trouble. 1994 also had several seizures. Sinus trouble monthly and several ear infections. Also, between September of 1993 and September of 1994, Matt had a mild seizure once a month. Hasn’t had a mild one since then.

1994
May, Matt and I went to Chicago. We were to meet with Dr. Jaeken in DeKalb. His only comment was one of surprise that Matt was not eating. Also, consulted his pediatrician about bruising. Saw a hematologist. Platelets were down to 68,000 (normal 150,000).
June, another gran mal seizure.
August, Hematology tested Matt’s Surface Time (for clotting). Abnormal - over 15 minutes. He adds another label - ITP. Platelets continue to bounce from 120,000 to 43,000 - usually in the 60’s or 70’s.
November, Another seizure. This time had a hard time coming out.

1995
January of 1995 brought another seizure (his last to date).
February, Had bone marrow biopsy done. OK from a blood viewpoint.
May, Ophthalmologist suggested an ERG because spots on Mat’s macula are getting bigger. Results were lower than expected.
June, Matt had mixed results on Hudson Freeze’s mannos test.

1996
Started with a Swallowing Evaluation. Recommendation was not to continue feeding therapy because of poor swallowing coordination and aspiration.
April 29 - It was time to put on pajamas. Pulled down Matt’s pants. He had blue legs. They pinked up in 5 minutes.
Early May, noticed Matt was hardly crawling anymore. Flinched when diapers or pants were changed. Took him to see his pediatrician. He ordered X-rays and blood work for muscle inflammation. Took Matt in for his weekly OT session. Told her my concern about his legs, his pediatrician’s visit and future appointment with rehab. By this time, Matt’s veins had started to bulge under the skin. When I went in at the end of the session, she said she had never seen such a rapid decrease in function. Matt needed to be seen in Rehab. ASAP. On Friday, in the Rehab. Dept., a blood clot was suspected. Ultrasound confirmed that there was barely any blood flow to either leg. Before being put on anticoagulation therapy, Dr. Sokol checked for varisees in Matt’s throat. None were found. Blood was taken during the procedure. His PTT3 and Protein C levels were 40% below normal. Currently, we are waiting for a few more test results. Then, his long-term blood therapy will start. Matt has to be taken off his seizure medicines in order to take his new pill. So far, no seizures and he is down to one pill.