Nikki was brought into this world on June 2, 1997 following an uneventful pregnancy and labor of only 3-1/2 hours. She had excellent APGAR scores and we were sent home only 4 hours after her birth. She nursed voraciously and at our 48 hour post-partem check at our home by the midwife (who delivered both of our children) took samples of blood which were taken for the routine blood screens as well as for the optional (but recommended) Supplemental Newborn Screening panel that was to be sent to NeoGen Labs, lnc. in Pittsburgh. This test would cost us $25, as it was not covered under our Blue Cross plan. Although I had declined most of the prenatal screens and optional tests with both of my daughters, we opted to have the additional screening. We expected to receive a letter in the mail saying our child was normal, as we had 27 months earlier with our first daughter, Katya.

We did not receive a letter, instead, on June 17th, when Nikki was 15 days old, we received several urgent messages on our answering machine from our midwives and our pediatrician. I phoned the midwife first and was told our baby had a life threatening illness, that we had to get her to our Pediatrician, and that we would need to have her seen by a specialist in Strasburg. Although I had been a physical therapist for nearly a decade and was used to medical terminology and illness it was my husband, Ed who had to handle the phone calls, as I could not even remember the initials they gave me for this disorder. We took Nikki to our local pediatrician who explained they had barely heard of the disease, let alone treated it. He suggested that Nikki should be hospitalized out of town where they treated this type of disorder routinely. We were referred to Dr. D. Holmes Morton in Strasburg, a doctor who has dedicated his life to disorders common in the Amish, such as GA1. I was put in touch with him and he recommended that Nikki be hospitalized that evening. Humbly, he explained that he was one of the top pediatric geneticists in the country, but that we could go to Children's Hospital in Philadelphia if we would rather. His calming voice and gentle reassurance made me feel as though going to Lancaster General and to Dr. Morton would be the right choice.

Nikki and I made the hour and a half drive uneventfully (though I don't remember any of it) and checked in. The next 24 hours would be the worst of my life up to that point. We met Dr. Morton and his nurse practitioner, Donna almost immediately. They could not find any immediate clinical indications that Nikki had GA1 and took blood and urine samples which Dr. Morton ran at his own lab to confirm her diagnosis. Not only did they confirm Nikki had GA1, but her levels were very high. Dr. Morton’s dedication and caring were apparent immediately. He spent hours explaining to me the disorder, the implications, and what we could face in the next few years, then re-explained as much as he could to my husband over the phone, who was at home with our 27 month old.

I have never been the type of person that listens to doctor’s advice or trust them implicitly. My first disagreement with Dr. Morton came over feeding. He instructed me that as of ten o'clock that night Nikki could no longer nurse since we would have to keep a careful count of her caloric intake and that she could no longer receive breast milk. Although being notified of her illness was a devastating blow, this news did me in. I am a firm believer in the health benefits of breast milk and had nursed my first daughter using a pump when I returned to work. When Dr. Morton left that night, I sobbed uncontrollably. The night became progressively worse as he did not want Nikki to have any milk and said the glucose IV's would keep her satisfied over night--they didn’t. She screamed well into the night and glared at me with accusing eyes, wondering why not mother would not feed her when she was hungry. The nurses saved me and took Nikki out of the room so I could get some rest.

The next morning we had our first of many MRI's and though it showed some increased fluid around the temporal homs, her basal ganglia were intact. This started our day off on a good note and then Dr. Morton and I resolved our disagreement. He would allow me to continue to give Nikki breast milk, as long as I pumped it and gave it to her through a bottle. I ordered a double pump and for the next 17 months, fed Nikki in that manner. It was a lot of work, but to me it was worth it!

Nikki and I went home that evening and started off our new schedule of medications twice a day. Nikki had no problem adjusting to the L-Carnitine, but hated the liquid Diazepam. I discovered the medibottle that saved us a lot of fighting and allowed her to get all the necessary medication. Soon, this became routine and we traveled the 2 hours to Strasburg every 4-6 weeks for follow-ups. Although her head lag persisted to the far limits of "normal", Nikki reached every other developmental milestone on time, rolling by 3 months, sitting by 6, and walking at 11-1/2 months of age. On physical examination, Dr. Morton would always find "some slight dystonic movement" although our local pediatrician never found any.

By her 15-month visit we were really feeling we were out of the woods. Although they told us that injuries can occur up to 18-24 months, Dr. Morton told us these were usually in children who developed more slowly. By 15 months, Nikki was walking, climbing, and keeping up with her older sister. Her basal ganglia seemed to have fully developed and she had gotten through this time with only one slight cold, which I was able to manage homeopathically.

We started to let our guard down that was when tragedy struck. All along we had been worried about her caloric intake and risk of seizures from a fasting state. On October 18th, when she was 16-1/2 months old, Nikki fell off the back of a rocking horse and was rendered unconscious. She was rushed to our local trauma center where the doctors joked that they had to read up on GA1. They were in contact with Dr. Morton at my request, but were obviously unequipped to deal with her condition. A CAT scan showed a subdural bleed, something children with GA1 are at high risk for. During the course of the day, Nikki got progressively worse and we were taken by helicopter our to Lancaster General. I have never been as relieved to see someone as I was to see Dr. Morton that evening. I knew when I saw him that he would make Nikki OK. It turned out that part of Nikki’s problem was that the local hospital had her glucose level four times normal and her Dilantin levels almost twice therapeutic levels.

After a few days, Nikki was walking around and seemed much better. But she continued to spike fevers in the afternoon and was sent home on Motrin every 6 hours. She screamed all the way home and as it turned out, Nikki knew best. We were back in Lancaster only 5 days later. MRI confirmed she had a second bleed and developed a strange inflammatory response to the subdural bleed, having fevers as high as 104.6 degrees. We stayed in the hospital for 3 more days, doing little more than trying to control her fevers. I was getting cabin fever, trying to keep a 16-month-old with IV’s from falling on the tile floors of the hospital while she wanted to run and climb. On the third day, Dr. Morton told me were could probably go home that night, Nikki had a seizure and became paralyzed on the right side of her body. Dr. Morton and the neurosurgeon on her case were called in; she was typed and cross-matched and sent to CAT scan again. All of us had the thought that there must be pressure building in her head and that she would need surgery. Fortunately, that was not the case. Then scan showed a slight extension of the bleed, but no pressure on the brain and no permanent damage. Throughout all this, Nikki’s basal ganglia remained intact. By 4 AM the nurse woke me and let me know that Nikki was once again using her right side and seemed fine.

However, the fever persisted. Dr. Morton was baffled and spent hours on the phone and in the medical library researching her response. He finally came back and said, "let’s try Decadron", a central nervous system anti-inflammatory. This was the answer. Within 24 hours, her fevers stopped and Nikki became her normal self. We were released to go home on day 6 and this time Nikki returned home with a smile on her face.

Five months have passed since this episode. Nikki is now running and jumping and sending her parents and other relatives into panic attached everytime she jumps on the bed or climbs on a chair or "dances in the bathtub", but we never go through a day without realizing how lucky we are. Now that Nikki is closer to 24 months, the age where the imminent dance of basal ganglia injury is over, we can start to relax. I am putting any free time into the fight for mandatory expanded newborn screening. For our family, having the option to choose this additional test made a difference for which we will be eternally thankful!

Carrie & Ed Hrichak
3961 Notre Dame Court
Bethlehem, PA 18020
610-867-0599