My daughter Caroline nearly died from an extremely rare condition now called Cerebral Folate Deficiency. Had it not been for my own research, she would have. This is her story.
When my daughter Caroline was born she was a very healthy baby. At two days old, when she stopped breathing in her bassinet, I knew that we were in for a rough ride. I gave her mouth-to-mouth on our kitchen floor and the ambulance took us to the children’s hospital.
At first they thought my story of a baby stopping breathing at home alone with me was a bit fishy, since she looked fine by the time we arrived. I, on the other hand, looked rough around the edges, having just had a baby, not slept in a couple of days, and just found my new infant blue in her bassinet.
They luckily kept Caroline, so they could observe us together, and that probably saved Caroline’s life. She turned blue again the next day while I was out of the room and the nurse was with her. That began a three-week NICU adventure that left us with a very limp baby with epilepsy.
Things went on fairly smoothly, though on a steep learning curve, while I learned her meds, found therapists, and began a life with a baby with pretty severe developmental delays. I also had three other little girls to care for. As time went on, things got smoother as I learned the ropes and how to juggle the demands on my time and energy. I was able to balance Caroline’s medical needs with the other girls’ needs as well.
By the age of three, I began to notice a very subtle loss of skills. Caroline began to get up at night and scream uncontrollably, arching her back and not wanting me to hold her. I was exhausted and very worried. She wasn’t able to crawl as well as she used to be able to, and I also thought she seemed weaker, though our pediatrician thought she looked fine.
After a few more weeks I took her back and asked an odd question, “Could a baby have Alzheimer’s Disease?” I felt that she couldn’t remember what she had learned the day before. In fact, every morning she seemed like she had forgotten every step we had made the day before. One morning she awoke and it was the worst loss I had seen. She appeared to not be able to move the entire left side of her body.
Now the pediatrician and the neurologist were noticing and sent her for an MRI. The MRI showed a loss of matter in the cerebellum or atrophy in her brain. At age four she had to have a feeding tube placed, as she could no longer swallow food or even her own saliva. She lost most muscle use, including bowel control and all use of her hands. She was a limp noodle, just barely able to hold up her head.
The seizures had come back and she was seizing over 1,000 times a day, her eyes just wiggling back and forth in continual motion. Everyone said that nothing could be done for our girl. I was beside myself.
The difference in our bright-eyed little girl was staggering.
Toward a Diagnosis
With a C in college biology and no real grasp of research, I began to try to diagnose my child. I had no medical background, no grasp of anything neurological except our brief stay in the NICU four years before and our seizure meds we had used. Every night I searched in hopes of finding what was wrong with our Caroline. By day I was a homemaker and mother; by night I was a medical researcher. My husband would plead with me to give up and just come to bed. He said I needed to grasp the situation. The doctors agreed with him and said I was in denial.
I wasn’t giving up my daughter without a fight, especially when they said she had maybe three months to live. If I ever gave up, all I had to do was look at her lying on the couch, limp and too quiet. Then I just knew I had to keep on.
One day I had a phone call to turn on Oprah, because a friend thought that two kids on the show looked like Caroline. I turned it on, and to my surprise they showed a brother and sister who had been sick like Caroline and got well. I mean jumping on a trampoline well! They had a disease called Dopamine Responsive Dystonia, so I researched the heck out of it that night. We even got a prescription for the dopamine for Caroline, but it gave her no relief at all.
The doctors again pleaded with me to give up and to just accept the situation. Nope, this clue gave me more hope and a lead to go on. So I began to research dystonia and dopamine, and also pediatric neurotransmitter and related disorders. I found a test we hadn’t done yet, a spinal tap, which they did not routinely perform at our hospital to diagnose pediatric neurotransmitter diseases.
We finally got it scheduled, and when the results came back, she tested positive for a new disorder, Low 5 methyltetrahydrofolate. She was the first in the nation to test positive. Back then it did not even have a name, though now it is called CFD or cerebral folate deficiency.
The doctor recommended a cancer drug for Caroline called Leucovorin, which had never been used on children for low 5 methyltetrahydrofolate because there weren’t any identified children but Caroline. They said that they didn’t know what the side effects might be. But I knew the side effects of not trying were death, so we began to give the drug, crushed up in her feeding tube.
Five days later she could move one hand. By a week she could stand and hold on to the coffee table. One night after about three weeks of the medicine, my little girl who couldn’t hold her head up was standing in the middle of the floor on her own two feet. I said, “Caroline, if you lift your foot you can walk,” and she did, one foot in front of the other. She walked for the first time in her life, across my family room floor, to the door, which I opened. That little girl, who could not sit up or hold her head up three weeks before, walked out our door and walked two city blocks till her little legs buckled.
All the neighbors came out to see. I cried my eyes out.
We have had many successes since. She learned to eat again and she has had many wonderful years, including running down the beach.
The bottom line is to never, ever give up. Never let your lack of education or knowledge stop you. You may be the only one willing to put the time and effort into saving your child.