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Glutaric Acidemia, Type 1

Hi, my name is Nikki. I am 21 years old and live in Bethlehem, Pennsylvania. Most of you probably have heard my story, but if you haven’t, I will give a brief summary. I was welcomed into this world on June 2,1997. A few hours after I was born, I was given the O.K by the doctors to go home. In the next few days, I was living the life of a normal baby. But on day 13, my family was hit with paralyzing news. On June 15th, 1997, my parents got a phone call stating that the Newborn Screening test results had shown that I was diagnosed with a life threatening illness called Glutaric Acidemia Type 1. After being taken to a local pediatrician and discovering that they knew nothing about the disorder, my parents and I were redirected to Dr. Holmes Morton. That evening, my mom and I made the trip to Lancaster, and by night, I was admitted for some tests and MRIs. The next few months consisted of medication schedules and monthly follow-ups. During the first few months of my life, I was hitting every developmental milestone on time. On my 15th visit, everyone was feeling hopeful and starting to believe that they were out of the woods. But on October 18th, 1998, I fell off the back of a rocking horse and was rendered unconscious. A CAT scan was performed, and after it displayed a subdural bleed, my mom and I were taken by helicopter to Lancaster General. During the six days in the hospital, I spiked fevers, went paralyzed on the right side, and apparently screamed uncontrollably. Hours after, I regained movement of my right side, but my fever persisted. After many hours on the phone, Dr. Morton suggested Decadron. Within 24 hours, I was fever free and returned home with a smile on my face.

I don’t recall ever being sick. Everything I just stated above I learned from my parents. I don’t remember the fall, the tedious food charts, and I definitely do not remember the helicopter ride. Everything I remember about my childhood was normal. I got to take part in everything my sister and friends were doing. I got to decide what to eat, I ran around on the playground, and except for reading comprehension problems, I was able to learn alongside of my classmates in school.
From the time I could remember to seventh grade, medically, I was fine. My GA1 never restricted me from taking part in anything. But when eighth grade hit, painful headaches, which are common in GA1 patients, started. I had headaches most days. They weren’t unbearable, but they were painful enough that they caused concentration issues in school. These headaches went from eighth grade until the first part of freshman year of high school. The summer before high school started, I had a spinal tap performed and then was put on Diamox. With this medication, my headaches resolved and I was headache free. At this time, I was relieved and happy that I could once again focus on school. From 9th-12th grade, I was lucky enough to attend the Lehigh Valley Charter High School for Performing Arts where I studied vocals, and played alto saxophone in the band. For this school, every student who wished to attend needed to audition.
For the next two years of high school, I was headache free. But on the third day of senior year, the headaches returned worse than ever. It was third period and I was in my Vocal Techniques class doing warmups. All of a sudden, it felt like I was shot in the right temple. I stopped singing and just stood there in pain. The rest of the day, I got progressively worse. By sixth period, I was resting my head on my desk because I was in so much pain. Never has a day gone so slow. By the time the school day was over, I felt like I could barely stand. I walked in my house and automatically burst into tears because of how bad the pain was. From that day on, the headaches continued to worsen. To try and relieve the headaches, I started with Over-the-Counter (OTC) medications like Tylenol, Advil, and Excedrin Migraine. Tylenol and Advil didn’t do anything. Excedrin Migraine sort of helped my head but it made me really nauseous. After the OTC medications failed to work, we attended appointment after appointment. I saw my family doctor, eye doctor, massage therapist, cranial sacral therapist, and neurologist. Every appointment ended with them saying that they had no idea what was causing the headaches. I try to be a positive person, but during this time, it was hard to stay hopeful. One year and eight months, I lived with a headache that never went away. I went to sleep with it and I woke up with it. I lost any desire for a social life and was basically living life feeling like a ghost. I feel like I was just existing instead of living. I was constantly in agonizing pain, and my constant goal was to just make it through the day. During this time, I stopped reading, knitting, and basically anything else that required a lot of concentration. By the time I’d get home, I’d be exhausted and in so much pain. Every day I was taking three Aleve to help take the edge off, but they never fully resolved the pain. Even during this time, I went to school, attended play rehearsals, and worked as an administrative assistant at a modeling and acting agency. More months passed where more ideas were tried and more tests were done, but still there was no relief in sight. Our last resort was to go see Dr. Li, a neurosurgeon, at Lehigh Valley Cedar Crest. In the first appointment, I wasn’t too hopeful. He looked at my MRI charts and told me that he did not see anything that seemed worth operating on. Since I was born, I have had two arachnoid cysts on either side of my brain. But they were never thought of as harmful. The first tip from him was to combine Tylenol and Aleve. Then he told me that he would see me in a few weeks. Leaving the hospital, I was devastated. I really was hoping that he would know what to do. In the next few weeks, I did as he asked. But as you can probably guess, it did nothing. We went back for our follow-up visit, and I told him that there had been no relief. And by this point in my life, on a scale from 1-10, my headaches were usually ranging from a 7-9. In this appointment, he looked at my charts again, and said that he would perform cyst fenestration surgery, but there were no guarantees that this would be the cure. He sat down and explained in great detail how the surgery was going to go. With where the cyst was, he said that he’d be able to go in through my right eyebrow to drain the cyst. By this point in my life, I was desperate and just wanted relief. After going home and talking it through, I made the decision to go through with the surgery. On May 19, 2016, I was admitted to the hospital to undergo brain surgery. I remember going in feeling super hopeful, even though Dr. Li told me that this might all be for nothing. Still, I remained hopeful and smiled the whole way to the operation room. The surgery took longer than expected due to the consistency of the cyst. Dr. Li was expecting the cyst to be like a balloon. He thought that once he reached it, it would pop causing some of the pieces to not be collected. But instead, the cyst was a gooey consistency, meaning it took longer than expected to retract all of it. After the surgery, Dr. Li explained to my parents that the cyst was the size of a golf ball and it was actually wrapped around my 3rd cranial nerve, something that was not seen on the MRI. After I woke up from surgery, I was extremely nauseous. The doctors were giving me fluids because I couldn’t keep anything down. I remember the whole stay being so uncomfortable. I had all these lines in me, I couldn’t see out of my right eye, I was nauseous, and I was so exhausted. Throughout the day and night, doctors were coming in and trying to pry my eye open and talk to me. The night spent in the hospital was anything but relaxing, but I wouldn’t change anything about what happened. Thanks to the surgery, I am now living headache free. Although I will admit I still get the occasional headache, but it usually results from not eating enough or not drinking enough water.
It’s been almost three years since my surgery, and I can honestly say I am living my happiest life. Two years ago, I earned my associates degree after studying communications at Northampton Community College. Now out of school, I work as a part time stylist at David’s Bridal in Whitehall. From the time I started until now, I have remained their top seller and have achieved Circle of Excellence two years in a row. For those of you wondering, Circle of Excellence is awarded to those who manage to sell $200,000 in a year. Along with being a stylist, I am also pursuing my dream of becoming an actor. Lately, I’ve been making frequent trips into NYC for various roles on TV shows. Fun fact, I can actually be spotted in season 3, episode 4 of BULL on CBS.
There’s not a day that goes by without realizing how lucky I am. I hear about my childhood and can’t help but feel grateful. I don’t know where I would be without my parents’ love and commitment. Hearing about the daily routines, charts, medications, and constant trips to Lancaster makes me have so much respect for all the parents out there who are making sure that their kids have the happiest and healthiest lives. I also thank Dr. Morton for saving me more than once. If it wasn’t for him, I can guarantee my life would be very different from what it is now. Knowing about my past now gives me such respect and admiration for everyone who worked tirelessly to allow me to be the person I am today.
Over the years, I have been thrown many obstacles, but I never let them get me down. My entire life I’ve had a positive, optimistic attitude. I see the good in every day and let nothing stop me from achieving my dreams. I strongly believe that’s how I was able to make it through some of the toughest times in my life. I never gave up and I always believed that something good was going to come of every situation, even if it didn’t seem that way at first.
For those who have read my story or are just reading my story now, I want nothing more in my life to give you all hope. Over the years, people have shared their stories with me and my family speaking of how I am the reason their child is alive. People from all around the world have told me that my story gave them hope and have also said that because of my story, they found the Clinic for Special Children. Let me just say, I am so humbled and honored. I can’t help but get teary eyed every time I hear that my story made an impact on someone. To everyone that has followed my story over the years, again, I just want to say thank you.
Bethlehem, PA 18020
From the Spring 2019 OAA Newsletter


Glutaric Acidemia, Type 1

Ten years. One decade. It is amazing how much has changed in the world in some ways and how so little has in others.

Nikki was diagnosed with Glutaric Aciduria Type 1 10 years ago this week. She just celebrated her 10th birthday. She swam in the pool, jumped on the trampoline, broke the piñata, and threw water balloons, right aside of all her 4th grade friends. She brought home good grades and participated in dance, voice, tennis, and saxophone lessons. She won the citizenship award two years in a row. She generally sticks to a vegetarian diet (by choice) but does occasionally choose salmon, scallops, or shrimp for her main course. She suffers no apparent ill effects from small amounts of concentrated protein and we no longer treat her diet any different from her sisters.

She does take her carnitine and calcium pantothenate in her morning juice every morning and I do have to remind her that she has this “disorder” and needs to be thankful for each and every day. Due to the tireless work of people like Dr. Holmes Morton and the staff at the Clinic for Special Children, the members of OAA, Save Babies through Screening, and so many other organizations, Nikki does not have any memories of ever being “sick.” The only time we really notice a difference between our two girls is when Nikki gets a fever. It seems to affect her more than her sister and Nikki’s fevers only respond to Motrin.

For those of you who are not familiar with Nikki’s story, I will recap it. Nikki was born in June 1997 with a normal midwife-assisted delivery. She nursed well and seemed to be thriving just as her older sister had done. We opted to have the expanded newborn screening test taken as it was only 3 additional drops of blood and $25. On day 13, we received the call that would change our lives: Nikki had GA1 and needed immediate medical attention. We were referred to Dr. Morton at Lancaster General Hospital. Nikki’s diagnosis was confirmed and she was started on valium and L-carnitine. I was insistent that Nikki continue to be fed breast milk and Dr. Morton agreed if I would pump so we could measure her intake. I did– for the next 17 months. Nikki never received formula. When I was no longer able to meet her needs, we weaned her to Rice Dream enriched which she drinks to this day. We counted every calorie and every gram of protein she ingested for the first 2 years of her life, keeping charts and records. She met every developmental milestone on time (except speech as her very verbose 3 year old sister spoke for her so there was no need.)

​At 16 months, she had a set back with a subdural hemorrhage from a very minor fall. The neurologist at our local hospital (where I happen to work as a PT) intimated that it followed the signs of abuse; however, nothing came of that passing suggestion. We were lucky! Nikki was taken by Medivac to Lancaster and once again, Dr. Morton took part in a miracle. Her bleed extended while in the hospital, mimicking a stroke with hemiplegia. Dr. Morton used Decadron to help decrease the cranial inflammation and Nikki walked out of that hospital without any sign that she had a setback.

We have continued to visit Dr. Morton on a yearly basis. I think he continues to be amazed at the why and how Nikki came through all this without a trace of the effects of GA1 when so many other children, even those who were fortunate enough to have been screened, have suffered setbacks.

As I said, so many things have changed: more states are including expanded screening tests for newborns including that for GA1, treatment protocols are improving, and equipment and treatment for those injured are becoming more accessible. However, it does sadden me that even one child with this disease or the hundreds of other metabolic disorders will die or become injured because screening is not available to them. Like Nikki, they may appear perfectly normal on the outside.

I believe Nikki’s story is a small beacon of hope to families who have received the crushing news that their child may have a life-threatening illness. Over the years, I have been contacted by families from England, Alaska, and California to name a few, who have read our story and gained a bit of hope: so many of the stories out there have tragic endings. I have also received emails from teenagers who have happened upon her story on the internet and have ended up doing research or community outreach projects for school on newborn screening and from one girl who just happened to be looking up hits on Google on her own name and was touched to learn of our “miracle child.” Nikki has been attracted to angels since she was very little. I am convinced that she has had several guardian angels throughout her life. Keeping Nikki healthy was our full time commitment from the day she was born. Looking at this beautiful 10 year old, we know that every sacrifice has been worth it.

My hope is that in the next decade, every child will be screened and more can have the life that Nikki has been fortunate enough to lead.

Carrie, Ed, Katya, and Nikki
Bethlehem, PA

From the Summer 2007 OAA Newsletter



Glutaric Acidemia, Type 1

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
Bethlehem, PA
From the Summer 2009 OAA Newsletter

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