EllingFamily:TogetherWeThrive

My story begins in the winter of 1996; I was a junior in high school and a three-sport athlete. After a basketball game on Friday night, the next morning I noticed I was sore and my urine was darker than usual. Knowing that this wasn't normal, I told my parents about my condition. My parents, being the concerned individuals, told me to visit the doctor and get examined.

Being a young, immature 16 years old, I thought the doctor's appointment could wait since by Saturday afternoon my soreness was subsiding and my urine was clearing up. After ignoring my first initial attack, my symptoms subsided for a brief time. I was now entering the track season where the physical toll on my body was not as great since I was a shot put and discus thrower. However, I still had considerable soreness after lifting weights, but I discounted it as a sign that I was getting a good "rip".

I had a fabulous athletic career during my senior year, good enough that I was named a first team all-state football player and was being wooed by college football teams. All this time I continued to workout and lift weights, dedicating myself to the adage of "bigger, faster, stronger", but at the same time ignoring the signals my body was sending me. The episodes of dark urine were increasing in frequency and muscle soreness was becoming more noticeable on a daily basis.

Finally, the dark reddish color of my urine and constant soreness scared me into seeing the doctor. Fearing the worst, I went and saw my family doctor, who had been my physician for as long as I could remember. When I met with my doctor I explained my symptoms and how I thought they were being triggered by exercise or lifting weights. Hearing that my urine was dark, the doctor ordered a urine sample and blood work. When my urine sample came back my, the test results showed that there was nothing really abnormal. My CK levels were elevated but still within an acceptable range. The doctor ended up telling me that soreness and a little blood in the urine were common for athletes and not to be too concerned, but to come back if symptoms persisted.

Unfortunately, the symptoms did persist. As I continued to play high school sports and train for college football the next fall, my body began to respond with greater negativity. During the track season my senior year, the distance of my throws steadily declined because of constant muscle soreness and fatigue. I returned to the local clinic to be examined. This time, however, my family doctor was on vacation and another physician examined me. I told the physician the symptoms I was having and that I had visited my family doctor less than nine months before with the same ailment. The doctor again ordered a urine test and blood work along with examining me physically. Once again my test results came back normal except for an elevated CK level. Not surprisingly, the doctor repeated the diagnosis of my family doctor that these types of symptoms were normal for athletes, especially athletes that were training constantly. So, I walked away feeling that this type of soreness was typical and just to be accepted when training for collegiate athletics. This assumption a little more than a year later would land me in a hospital emergency room.

After graduation, I attended college playing football. Coming from a family that was not athletically inclined, I had no idea of the time and physical commitments collegiate athletics demanded. Spending on average six hours a day either lifting weights, watching tape, or in practice, my body mentally and physically took a beating. The long hours of physical activity made my body continually sore with constant bouts of Myoglobinuria. To deal with the pain, I took unhealthy doses of aspirin and ibuprofen each day. Hearing comments from older team members about how sore they were made me believe that they suffering through the same torture I was being put through and discouraged me from seeking additional advice from trainers of physicians.

Luckily, I made it through the entire football season, happy to see it end. But after the season was completed, off-season training came into full swing. Off-season training meant longer sessions of weight lifting and special conditioning sessions three times a week, but at least it wasn't the six-hour physical test every single day.

Living through my freshman year, I went into the summer planning on becoming stronger and in better condition so I could handle the practices in the upcoming fall. I had no idea that my training and weight lifting was actually doing more harm than good. It was during this summer that I finally understood how dangerous CPT deficiency could be. In late August, after an intense weight lifting session, I went back to my dorm room feeling spent. When I woke up the next morning I was so stiff I could not move. It was like my muscles were in a constant flex and I was extremely sick, so sick and sore that I could not physically sit up in bed or lift my arms. After laying in bed, almost motionless for almost two days I finally got up enough strength to call my best friend, at his insistence I went to the emergency room at McFarland Clinic in Ames, Iowa.

After the doctor on call took my blood work and urine test he sent me on my way, thinking I just had a really bad case of the flu mixed with a hard workout, but before I reached home, I had a call waiting for me to return immediately to the hospital for additional tests and observation. Unlike previous urine tests, this test showed my CK levels to be off the charts indicating severe Rhabdomyolysis and damage to my kidneys. With the present test results, my condition could no longer be over looked and the emergency room doctor immediately suggested that I might have a rare metabolic disease called carnitine palmitoyltransferase deficiency, but to make sure I would need additional tests. This started my long road to becoming diagnosed with type 2 carnitine palmitoyltransferase deficiency.