Luca was three days old when we got the call from his paediatrician – there was an abnormal marker on his newborn screening and we needed to take him to Stanford University’s emergency department immediately. It was the longest two-hour drive of my life.
The doctors ran tests and determined that Luca was stable, allowing us to go home in the middle of the night. They told us that the results would come back within two weeks. Two days later, we got a call from Stanford’s Biochemical Genetics department stating that we needed to come in the following day for genetic counselling. On Luca’s sixth day of life, we made the trek back to Stanford, unsure of what we were about to hear.
I’ll never forget Holly, Luca’s nurse practitioner, telling us that there are a number of metabolic disorders, some treatable, while others are not. I held my breath assuming the worst when she said, “Luca is treatable.” I made her repeat it again…Luca is treatable.
Luca has a rare genetic metabolic disorder called Propionic Acidemia. His body has a difficult time processing certain amino acids in proteins and fats, which could lead to the build-up of toxins in his body. His condition is managed by a low protein diet and medication. Due to his difficulty getting rid of toxins, we also need to do everything possible to keep him from getting sick, as a simple cold could result in time in the hospital, along with a number of serious side effects that come with a metabolic crisis, such as mental impairment, coma, or death.
We left Stanford relieved that day, but the reality of his condition struck four weeks later when he caught a cold, resulting in an 11 day stay in the hospital. Over the following few months, there were a number of trips to the emergency room and Stanford for appointments.
Our lives have changed in ways that we never could have imagined since Luca was born. Doctors highly discouraged us from placing Luca in a traditional daycare setting, so I left my job as a high school English teacher to take a part-time position teaching kindergarten two to three days a week. My mom quit her job to help take care of him on the days that I work. To make up for the loss of income, I also teach adults at night, which can make for some long days.
As a family, we are moving to a plant-based diet, so that Luca will never feel alone at the dinner table. Luca’s journey with PA is our journey too. Our greatest hope is to give our children a life that is as normal as possible and to instil in them that challenges in life are inevitable, but we are better because of them.
This isn’t to say that we don’t ever feel the weight of Luca’s condition. That’s the hardest part of it all: the mental strain. As a mother, the dread of having to hold him down for another blood test or IV hurts beyond description, even when I know that within 30 seconds, he’ll be smiling again at the nurses. There is always the lingering fear of what will happen if he gets sick, doesn’t eat enough calories, or is fed the wrong food. Then there’s also the knowledge that at any time I could have to drop everything to take him to the emergency room; I keep a bag packed and ready to go.
For the average family, all of this may seem like a lot; however, in the world of metabolic conditions, we’re pretty fortunate. I am often reminded of this when we go to our appointments at the Biochemical Genetics Clinic and see children with obvious physical and mental disabilities. While nothing is certain, doctors do not foresee Luca needing dialysis or a transplant like many with his condition require. They believe that he will live to be an adult and will be able to have a relatively normal life with careful management of his condition.
We’ve felt a lot of things over the past 16 months of Luca’s life, but more than anything, we are grateful. Our family, friends, and community have rallied around us and shown us nothing but love. We are also appreciative of the medical professionals at Stanford, who treat medicine like an art and patients like family.
His doctors have said that Luca is different; his case does not present like that of a traditional PA patient, and they don’t quite know why. The name “Luca” means “light” and we believe that his life will help to shed light on rare metabolic diseases.
If you or someone you know has been diagnosed or is living with Propionic Acidemia and would like some support with your diagnosis, please get in touch with our Core Services team to see how we can support you. You can reach our Core Services team on 0845 241 2173 or firstname.lastname@example.org
If you also have Propionic Acidemia and would like to share your story, please contact our Marketing and Fundraising Officer, Maggie, on email@example.com or 0845 241 2173. Sharing your story is invaluable, as it allows others with the same condition to come to terms with their diagnosis and to feel less isolated, meaning your story can make a real difference and be an incredible support to those who need it.