We created a caringbridge page to ask family and friends for continued support and prayers for our twins, Grady and Jace. In March, of this year (2023), Grady & Jace were diagnosed with a rare genetic disorder called PKAN - Pantothenate Kinase-Associated Neurodegeneration, which is under NBIA Disorders. This rare genetic disorder affects 1- 3 individuals per million worldwide, with around 100 PKAN patients in the USA. This rare disorder causes iron to accumulate in the brain with no way of dissolving due to an enzyme(Pantothenate kinase) being mutated  and unable to convert Vitamin B5 to its active form needed for metabolism. This affects the central portion of the brain that causes motor function regressions, rigid muscles & spasms, and dystonia which affects the ability to walk, talk, chew food, and respiratory function. Every case is different in the progression of the disease and symptoms can occur at different times throughout one's life.

 

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 a MRI of the brain and spine. The genetic test concluded that PKAN was the possible cause due to both Dustin & I being carriers of the mutated gene. The MRI was performed on March 22nd to help confirm the genetic test results. The MRI results were confirmed and 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 took a road trip in May of this year to Houston, Texas for the NBIA Conference with our three boys to learn more about the disease. Dustin entertained the boys at the hotel while I attended the meetings, as we had not explained to the boys why we were there. I gained more knowledge about the disease, trials, medications to help with symptoms, other informative and helpful advice. Most importantly, I met amazing and kind families who are coping with this disease and have gone through what we are experiencing with PKAN and other NBIA Disorders. These families were so welcoming and open-hearted, even after going through the struggles of the disease and had loved ones who have gained their wings. The love and support from the families made it feel like these individuals have been part of my family my whole life. There was no explaining how things were for our children, as everyone already knew, and our hearts seemed all the same. A care and love so deep for so many that have never met is most definitely God's love shining on us all, even more, our children. We believe there is a reason, we also believe in the strength of prayer and in Gods miracles.

In late July, we took a road trip to Portland, Oregon where we met with a team of doctors at OHSU, including Dr. Hayflick, who is leading the way in researching this neurological disease. The boys were examined by the team of doctors, and samples collected to be part of the research at OSHU. The team was very kind and wonderful. They provided information of the disease and we will rely on them greatly. They have a trial that recently ended called CoA-Z. They are or have sent it to FDA and we await further news on that. Good results were reported with a very safe product and again we are hopeful things move swiftly.
Our time in Oregon was very needed. We enjoyed the waterfalls, Portland Zoo, Cannon Beach, Indian Beach, Seaside, the aquarium, the views of Mt Hood and St Helen's, plus all the mountain views of Idaho and Montana. We enjoyed it so much! We would love to go back and spend more time there!

Our boys have been told by us that iron can't make it's 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. They don't know the name of the diagnosis, PKAN, the prognosis or how regressions will go. That is something we may talk about in the future as bits of information are presented at a time. 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. We are still us, and hope to have family and friends come and help us bring new adventures, laughs, hugs, fun times and also to be there when we need some hugs, cries, or someone there to be supportive and listen. There are no words to describe how hard this will be for the entire family to cope with this disease and the obstacles yet to come. Family and friends are the most important thing we can have in our lives now and in the future. Please, if you feel you don't know what to say, don't shy away...we probably need you more than you know, so ask, it may be so simple as a hug, a prayer, or/and keep them in your thoughts.

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. 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 something difficult for them. We hope services provided by CLTS(Children's Long Term Support) and speech therapy will provide some tools for them. They have had speech therapy since 3 years old, physical and occupational therapy since 4 yrs old. With 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 such as walking, dressing themselves, talking & school work, which puts a large strain on their thought process and bodies.

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!!!). Grady and Jace push and try so hard, they don't want to let their helpers(PT, OT, teachers) down. 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 and now the roles are reversed and he is one amazing and caring helper that surprises us every day.

The boys are your typical twelve year olds when it comes to playing with Legos, Minecraft, Pokemon, Roblox, Super Mario, and sensory toys. Their favorite books are Dogman and Catkid which we continue to read over and over again. We try to get out and enjoy the local Children's museum and amusement center to play video games, mini golf and trampoline park. Outdoor activities are a little more challenging, but there are times that we can get them outside to ride their adaptive three wheel Mobo bikes, take small walks in our neighborhood and play at the local elementary school playground down the road. Their favorite activity is to go to the arcade to play video games, eat Mcdonald's and drink a boba smoothie at Starcup.

 

A lot of family members/friends have asked "How can we help?" "We want to help any way we can." Here are links to fundraising:

 

 

Please continue to pray for God's Love and Healing Grace for Grady and Jace, and all those affected by a NBIA disorder.

We thank you, and appreciate all of your caring support during this time, and for the years ahead.

 

Love,

 

Dustin, Erin, Grady, Jace, & Owen

 

 

  https://www.nbiadisorders.org