Michael & Crystal’s Story (CPT 1)
November 17,1995 was a day we will always remember. Our son, Michael Wurz, who was 2 years old on November 13, became ill during the night with diarrhea. We let him sleep in the morning until 9 o’clock and when we tried to wake him, he was unresponsive and rigid. We rushed him to the hospital 40 miles away [we live on a farm 40 miles from town] where they did a little blood work and right away called an air ambulance to transport him to a bigger hospital 100 miles away. The doctors did a lot of blood work and different tests to determine what was wrong ~ the symptoms had pointed to Reye’s Syndrome, but with some inconsistencies, which led to some doubts about what was really wrong.
Our doctor, who was very kind and helpful and did his very best to treat Mike, did talk to us about metabolic disorders, but was unable to come up with anything other then Reye’s Syndrome. Mike was in a coma for 10 days and was not expected to live, but after 2 weeks he started to show some improvements. However, he was very weak, his muscles had deteriorated, and he was not able to hold his head up, much less walk like he was able to before. Mike, who was in the hospital for 4 weeks, started showing seizures before he was discharged, which he still has occasionally even though he gets medication.
Since we were told Mike had Reye’s Syndrome and had partially recovered, we felt all he needed was to recover his strength and he would be the same happy child he had been before.but we were wrong.
Three months later on March 13, after a single episode of diarrhea, he was back in the hospital with severely low blood sugars. After they were brought back to normal, he quickly recovered, but left the doctors scratching their heads. Even after still more blood tests, nothing new was discovered. After this we started monitoring Mike’s blood sugar levels that were normal except when he was not feeling well which caused us a lot of anxiety.
The doctors changed their minds about Mike’s illness, when a year later on February 15,1997, our daughter Crystal became very ill with some of the same symptoms that Mike had his first episode such as low blood sugars and weakness in her muscles. Tests were still inconclusive as to what was wrong.
After doing a skin biopsy on Mike in April 1997, which was sent to the Institute of Metabolic Disease in Dallas, Texas, it was discovered that Mike had a metabolic disorder called CPT l and because Crystal had had much of the same symptoms, it was concluded that she also had the disorder, which was later confirmed through DNA testing. There were only a couple of known cases of CPT l in the USA at the time, which explains why the doctors couldn’t make a correct diagnosis.
After her illness Crystal had a slight limp for about a year and her muscles seemed to be weaker in her right leg up to 2 years later, but now is healthy and strong and seems to be keeping up with her classmates. Mike’s episode left him with seizures, poor muscle tone and developmentally delayed. He is going to school and seems to be learning, but very slowly.
In October 2000 both kids participated in a dietary therapy study at Baylor University Medical Center, done by Dr. Charles Roe and Dr. Jay Cook, which involved a low fat diet supplemented with a special oil called Triheptanoin. Testing done on both proved it to be beneficial. In school we are seeing very positive results with Mike. He is more attentive and is able to concentrate better but still has a lot of problems.
We have an older son, Patrick, who does not have the disorder and our youngest, Benson, does not have the disorder but is a carrier. In both Mike and Crystal the disorder didn’t seem to affect them until after their second birthday ~ between the ages 2 and 4 Mike was in the hospital 10 times, once with pneumonia, then he had to have his appendix removed. Not enough food intake usually led to hospitalizations, but since 4½ years of age, thankfully, we haven’t had any illnesses where he had to be hospitalized. The disorder didn’t seem to affect Crystal as severely as Mike, as she never got as sick as he, nor as often.
After a few episodes of ‘hypoglycemia’ we learned to watch them carefully whenever they aren’t feeling well, and to try and keep their intake level up, which means getting up during the night and giving them juices or Gatorade.
The monetary costs have been very high for both Mike and Crystal, but the real heartache was seeing them sick and not knowing what was wrong or what to do about it, but as doctors learn more about these disorders, they should become easier to manage. The expanded screening that is now available at birth, for 30+ metabolic disorders, is something that every parent should be made aware of and requested for their child, for their own peace of mind and for their child’s well being. *(Please note ~ Mike and Crystal had diagnostic FOD testing done and it is a different test than the supplemental NBS test). Hopefully in the near future hospitals will be required to get this screening done on all newborns.
Ben and Debbie Wurz