Frankfort Family Foundation for PKU
Donation protected
"Fighting Phe 1 gram at a time"
Our goal in creating The Aidan Marc Foundation for PKU is to raise awareness and advocate for Phenylketonuria and other rare diseases. We strive to educate ourselves and others , inspire hope, connect with individuals and families around the world, and support others in their unique journeys with rare diseases. All proceeds will be directed to research for a cure, please join us on our journey!
On October 19, 2017 our world changed forever when we welcomed our beautiful son into the world. Little did we know as we relished in all the newborn sights, sounds, and smells our world would change again. A week after bringing home our newborn son, our miracle after nearly 2 years of fertility treatment, our pediatrician called and said “there were abnormal results on Aidan’s newborn screen, 99% of the time these are false positives but we take prompt follow through.” Within 3 hours we had our 1 week old son getting further blood draws and meeting with what would become our genetics team. The following day our worries and fears were confirmed, Aidan was diagnosed with Phenylketonuria.
PKU, for short, is a very rare, inherited metabolic disease in which the body lacks the enzyme PAH needed to convert phenylalanine, an amino acid found in all major protein, to the amino acid tyrosine. High levels of “phe” are toxic and extremely damaging to the brain if left untreated. There is no cure and treatment is in the form of weekly blood draws, daily medication, and/or restricted diet and special “phe-free” food. Unbeknownst to us (PKU is not tested on the standard maternal genetic screening), we are both carriers of this mutated gene and as an autosomal recessive disease there is a 25% chance of every subsequent child having PKU.
We will never forget the emotions, worries, fears, and unknowns we felt in those first few weeks, even now months later they can still be pretty raw at times. We went through all the stages of grief and so many "why us" questions. As a NICU nurse Kirsten has seen and knows there are worse but for us, in this moment, this was the worst. Would Aidan have cognitive delays, behavioral issues, seizures? How do we explain it to him and him to his peers one day? As for now we are fortunate that Aidan’s phe levels remain low, he’s developing appropriately, and of course as cute as can be!
What is our favorite thing about having PKU? At the top of the list is it brings us even closer as a family. We know there are many challenges still to come but we will face and overcome them together. To our son Aidan, you gave our life a new purpose. You make us so proud everyday and always remember this disease does not define you and we know you will endure for you are strong and brave. As your first birthday approaches, we have started this foundation in your name and together we will advocate as patient, parent, caregiver, nurse, and friend. Funding is lacking because these diseases are so rare, but with generous donations we hope to bring them to the forefront of medicine. Please consider joining us as we "fight phe 1 gram at a time"!
With gratitude,
Dan & Kirsten Frankfort
Our goal in creating The Aidan Marc Foundation for PKU is to raise awareness and advocate for Phenylketonuria and other rare diseases. We strive to educate ourselves and others , inspire hope, connect with individuals and families around the world, and support others in their unique journeys with rare diseases. All proceeds will be directed to research for a cure, please join us on our journey!
On October 19, 2017 our world changed forever when we welcomed our beautiful son into the world. Little did we know as we relished in all the newborn sights, sounds, and smells our world would change again. A week after bringing home our newborn son, our miracle after nearly 2 years of fertility treatment, our pediatrician called and said “there were abnormal results on Aidan’s newborn screen, 99% of the time these are false positives but we take prompt follow through.” Within 3 hours we had our 1 week old son getting further blood draws and meeting with what would become our genetics team. The following day our worries and fears were confirmed, Aidan was diagnosed with Phenylketonuria.
PKU, for short, is a very rare, inherited metabolic disease in which the body lacks the enzyme PAH needed to convert phenylalanine, an amino acid found in all major protein, to the amino acid tyrosine. High levels of “phe” are toxic and extremely damaging to the brain if left untreated. There is no cure and treatment is in the form of weekly blood draws, daily medication, and/or restricted diet and special “phe-free” food. Unbeknownst to us (PKU is not tested on the standard maternal genetic screening), we are both carriers of this mutated gene and as an autosomal recessive disease there is a 25% chance of every subsequent child having PKU.
We will never forget the emotions, worries, fears, and unknowns we felt in those first few weeks, even now months later they can still be pretty raw at times. We went through all the stages of grief and so many "why us" questions. As a NICU nurse Kirsten has seen and knows there are worse but for us, in this moment, this was the worst. Would Aidan have cognitive delays, behavioral issues, seizures? How do we explain it to him and him to his peers one day? As for now we are fortunate that Aidan’s phe levels remain low, he’s developing appropriately, and of course as cute as can be!
What is our favorite thing about having PKU? At the top of the list is it brings us even closer as a family. We know there are many challenges still to come but we will face and overcome them together. To our son Aidan, you gave our life a new purpose. You make us so proud everyday and always remember this disease does not define you and we know you will endure for you are strong and brave. As your first birthday approaches, we have started this foundation in your name and together we will advocate as patient, parent, caregiver, nurse, and friend. Funding is lacking because these diseases are so rare, but with generous donations we hope to bring them to the forefront of medicine. Please consider joining us as we "fight phe 1 gram at a time"!
With gratitude,
Dan & Kirsten Frankfort
Organizer
Kirsten Ashley
Organizer
Chicago, IL