Grady & Jace’s Story
In March 2023, Grady & Jace were diagnosed with PKAN. Early in life we always had some inclination that something was different and affecting their development. Through numerous doctor's visits and therapies throughout their childhood, we still had no answers.
Last fall, we traveled to Gillette Children's Hospital in St. Paul, MN to have the boys evaluated due to their constant falling, dystonia in their mouth, hands, and feet, freezing when walking and small hand tremors. The boys were scheduled to see a neurologist and have an EEG performed. After the evaluation from the Neurologist, a small genetic panel was collected, and the boys were referred to cardiology, orthopedics, physical medicine and rehabilitation. The small genetic panel test that was performed came back normal, but a whole exome sequencing genetic panel was performed on the entire family. The exome sequencing panel took a few months, on March 1st, I received a call from the genetic counselor that said they possibly found the root cause of our concerns but wanted to confirm with an MRI of the brain and spine. The genetic test concluded that PKAN was the possible cause because Dustin and I are carriers of the mutated gene. The MRI was performed on March 22nd and confirmed the genetic test results. Our worst fears were now real. Our world had turned upside down and would change our lives forever.
The diagnosis was painful, but we tried to keep it as normal as we could for the boys. There wasn't a minute that went by that we couldn't stop thinking about the diagnosis, and the first few months were the most challenging. There were days that we questioned why God would do this to an innocent child, but we were holding on to hope.
After the diagnosis life got extremely busy with gathering information about PKAN, continued doctor visits, and all the paperwork that goes along with medical support. Close family members and friends were informed of the diagnosis, but we still needed to gain the strength and figure out a way to inform the boys. We attended the NBIA Conference and saw the team at OHSU, including Dr. Susan Hayflick, who we very much rely on.
Grady and Jace are currently able to walk, but when out and about they will take our hands, so they have more balance and don't fall. They have dystonia in their feet, which makes it hard for them to balance. We cut up food in small pieces for them to eat and prepare soft foods due to chewing being difficult.They have had many falls and hits to the head. A helmet is something we are pursuing and possibly a walker, but it is something they aren't ready for. Speech has always been difficult for them. They have had speech therapy they were 3 years old, and physical and occupational therapy since 4 years old. The lack of coordination, balance, low muscle tone, and challenges with fine and gross motor skills make the simplest things so incredibly hard for them. The boys need to work harder than the average child to overcome their challenges.
Our boys are all so sweet in their own ways. They love our hugs, and we love theirs, as well as their beautiful smiles. Grady enjoys cuddles and has a wit that sneaks out and makes us laugh. Jace is kind and also our social one that is willing to try new things (zipline!!!). They also love music, and we often hear them sing along to whatever is playing or even hours later. They especially sing when focusing on whatever task they are trying to complete. Owen looked up to his brothers as a toddler. Over the last couple of years, he has noticed a difference in the way his body works and sees his brothers cannot complete basic tasks. This causes him to be anxious and worried, and in a lot of ways the roles are now reversed. Owen one amazing and caring helper that surprises us every day, but he still questions what is happening to his brothers.
We recently told the boys the name, PKAN, and a little about what regressions could happen to them. They have been told by us that iron can't make its way out of their brains, and this is the reason for the falling, difficulty with talking, writing, chewing and that things may get worse but don't know when. That is something we may talk about in the future as bits of information are presented at a time. They know we are doing everything we can to help find medicine to help. We would very much appreciate that if you see us, and have questions, to be respectful in discussing this matter in the presence of the boys. We don't want PKAN to be their life...we want them to have their own life, as normal as we can make it for them.
