Madeline, Age 10 months
Glutaric Acidemia, Type 1
Madeline Skye came into this world, kicking and screaming, 5 weeks early in December of 2017. Positioned breech, we were expecting a C-section… just not an emergent one for pre-eclampsia during the afternoon when I was scheduled to be at work in the hospital. She has been surprising us from day one.
Our pregnancy with Madeline had been anything but smooth. Conceived by in vitro fertilization, the embryo that developed into our beautiful daughter had been tested for chromosomal abnormalities before implantation. She was a perfect little peanut without any recognizable molecular anomalies. Her nuchal translucency measurement was slightly large, necessitating even more testing. Madeline had two normal fetal cardiac echocardiograms and multiple flawless ultrasounds, with the exception that stubborn little Maddie refused to turn into a head-down position. She wanted to sit up big, tall and breach. Nonetheless, we joked that Madeline was the most tested fetus ever and that nothing could ever be wrong with her. We were wrong.
I can remember the day like it was yesterday. Six days after Madeline’s entrance into our lives, we were sitting on the couch at home when we received the phone call from Madeline's pediatrician. She told me that out of the thirty years that she had been in practice, she has never had a newborn screen come back positive for this diagnosis... Glutaric Aciduria, Type 1. GA-1 for short. She mentioned that it could be a false positive, but we needed to promptly make an appointment at a geneticist. We hung up the phone and I called one immediately. Despite my training as a physician, I had never even heard of this condition. Our perfect six day old little nugget with a genetic disorder? Impossible.
We reached the local hospital's geneticist and were able to secure an appointment for that afternoon. Out of the house we flew, my wife and I, with our six day old baby in tow. How could this be possible? After a week's wait, which felt like an eternity, Madeline's repeat blood work came back positive for GA-1. She did, in fact, have this rare genetic condition. We were confused and overwhelmed.
After extensive research online about the best place for treatment for GA-1, we found ourselves at the end of a dirt road in Lancaster, Pennsylvania. We were at Clinic for Special Children… where our car was caddy cornered next to two horse and buggies. Apparently, they were the best of the best. And that's where we needed to be.
After meeting with the staff at the Clinic, we could tell that their experience with GA-1 was tremendous. Countless cases of this rare disorder have walked through their door and have been managed by their knowledgeable physicians. Despite the six hour round trip drive, we were certain that Madeline needed to be followed by these physicians. They sequenced her and my genome in just a weekend's time and found that not only did Madeline have the disorder, but I was a carrier. Despite our extensive testing before IVF, this never manifested itself. After a long day of meeting with their staff, we walked out of the Clinic with answers, reassurance, and confidence. We knew that we had found Madeline’s medical home.
Our family now makes a monthly visit to the Clinic. Each time, she gets weighed, her height and head circumference get measured, and she gets evaluated by her doctor. After her lysine and arginine levels are checked in the clinic's own lab, her formula gets adjusted to change the percentages of her natural protein and her synthetic protein. Each time we walk through the doors of their post-and-beam building raised by volunteers from the Plain communities, it is like we are visiting family and coming home.
Since Madeline's diagnosis nine months ago, we have learned so much about GA-1. We understand the need for strict protein restriction, since she cannot adequately break down certain amino acids. Her inability to break down these amino acids leads to their buildup in the basal ganglia, which is the area of the brain that controls movement. Childhood illnesses such as a respiratory infection or gastroenteritis can precipitate a metabolic crisis, leading to neurologic breakdown and irreversible brain damage. It is really scary stuff. We spend our days making her special baby formula, watching out for signs of illness, and trying to get ahead of any delays in meeting developmental milestones. Madeline has a great team of physical therapists who work with her to keep on top of her motor and sensory skills. We hope that being proactive helps optimize her medical care.
Madeline has been a happy and healthy addition to our family. Despite the unexpected beginnings, we have completely adjusted to life with our precious Maddie and her GA-1. We hope to raise awareness of the importance of newborn screening and the existence of this rare condition. And while Glutaric Aciduria has felt overwhelming at times, the Volpe family has been managing ever since and loving Madeline more each day.
Jennifer
drjennifervolpe@gmail.com
Succasunna, New Jersey
From the Fall 2018 OAA Newsletter
Our pregnancy with Madeline had been anything but smooth. Conceived by in vitro fertilization, the embryo that developed into our beautiful daughter had been tested for chromosomal abnormalities before implantation. She was a perfect little peanut without any recognizable molecular anomalies. Her nuchal translucency measurement was slightly large, necessitating even more testing. Madeline had two normal fetal cardiac echocardiograms and multiple flawless ultrasounds, with the exception that stubborn little Maddie refused to turn into a head-down position. She wanted to sit up big, tall and breach. Nonetheless, we joked that Madeline was the most tested fetus ever and that nothing could ever be wrong with her. We were wrong.
I can remember the day like it was yesterday. Six days after Madeline’s entrance into our lives, we were sitting on the couch at home when we received the phone call from Madeline's pediatrician. She told me that out of the thirty years that she had been in practice, she has never had a newborn screen come back positive for this diagnosis... Glutaric Aciduria, Type 1. GA-1 for short. She mentioned that it could be a false positive, but we needed to promptly make an appointment at a geneticist. We hung up the phone and I called one immediately. Despite my training as a physician, I had never even heard of this condition. Our perfect six day old little nugget with a genetic disorder? Impossible.
We reached the local hospital's geneticist and were able to secure an appointment for that afternoon. Out of the house we flew, my wife and I, with our six day old baby in tow. How could this be possible? After a week's wait, which felt like an eternity, Madeline's repeat blood work came back positive for GA-1. She did, in fact, have this rare genetic condition. We were confused and overwhelmed.
After extensive research online about the best place for treatment for GA-1, we found ourselves at the end of a dirt road in Lancaster, Pennsylvania. We were at Clinic for Special Children… where our car was caddy cornered next to two horse and buggies. Apparently, they were the best of the best. And that's where we needed to be.
After meeting with the staff at the Clinic, we could tell that their experience with GA-1 was tremendous. Countless cases of this rare disorder have walked through their door and have been managed by their knowledgeable physicians. Despite the six hour round trip drive, we were certain that Madeline needed to be followed by these physicians. They sequenced her and my genome in just a weekend's time and found that not only did Madeline have the disorder, but I was a carrier. Despite our extensive testing before IVF, this never manifested itself. After a long day of meeting with their staff, we walked out of the Clinic with answers, reassurance, and confidence. We knew that we had found Madeline’s medical home.
Our family now makes a monthly visit to the Clinic. Each time, she gets weighed, her height and head circumference get measured, and she gets evaluated by her doctor. After her lysine and arginine levels are checked in the clinic's own lab, her formula gets adjusted to change the percentages of her natural protein and her synthetic protein. Each time we walk through the doors of their post-and-beam building raised by volunteers from the Plain communities, it is like we are visiting family and coming home.
Since Madeline's diagnosis nine months ago, we have learned so much about GA-1. We understand the need for strict protein restriction, since she cannot adequately break down certain amino acids. Her inability to break down these amino acids leads to their buildup in the basal ganglia, which is the area of the brain that controls movement. Childhood illnesses such as a respiratory infection or gastroenteritis can precipitate a metabolic crisis, leading to neurologic breakdown and irreversible brain damage. It is really scary stuff. We spend our days making her special baby formula, watching out for signs of illness, and trying to get ahead of any delays in meeting developmental milestones. Madeline has a great team of physical therapists who work with her to keep on top of her motor and sensory skills. We hope that being proactive helps optimize her medical care.
Madeline has been a happy and healthy addition to our family. Despite the unexpected beginnings, we have completely adjusted to life with our precious Maddie and her GA-1. We hope to raise awareness of the importance of newborn screening and the existence of this rare condition. And while Glutaric Aciduria has felt overwhelming at times, the Volpe family has been managing ever since and loving Madeline more each day.
Jennifer
drjennifervolpe@gmail.com
Succasunna, New Jersey
From the Fall 2018 OAA Newsletter