February 1, 2022
Ahead of Rare Disease Day, VR真人彩票 is recognizing four rare disease patient organizations around the world. SLC6A1 Connect is the first in our series this month.
When Amber Freed was expecting twins four years ago, she never imagined her two babies would not grow up playing in parallel, learning in tandem, hitting the same milestones together, and mirroring each other in every way. The Frisco, Texas mom had one boy, Maxwell, and one girl, Riley. But from the beginning, Amber had the sense that something wasn鈥檛 right. Maxwell wasn鈥檛 using his hands, stared at his fingers constantly, and 鈥渓ooked like he was trapped in his body.鈥� Countless tests such as an MRI and EEG revealed nothing, and several doctors simply shrugged their shoulders.
At eighteen months, Maxwell was diagnosed with a disease so rare it doesn鈥檛 have a given name鈥攊t鈥檚 simply referred to by the gene name: SLC6A1. Disruption of the SLC6A1 gene affects neurological functions and intellectual ability, and can cause seizures and impair movement and speech. 鈥淭he day we received the diagnosis was the absolute lowest moment of my life and a pain that I did not know existed on this Earth,鈥� says Amber. 鈥淎ll of the hopes and dreams I had for my perfect baby were shattered as I listened to doctors explain his life was over before it began.鈥�
To the casual observer, SLC6A1 is not immediately obvious. In Kansas City, Missouri, Kimberly Fry has a four-year-old son named Charlie who was diagnosed with the disease two years ago. 鈥淪LC6A1 is an incredibly complicated disease that has impacted Charlie and our families in so many ways,鈥� says Charlie鈥檚 mom, Kimberly. 鈥淏ut it usually takes a video or a couple minutes with Charlie for one to really understand.鈥�
鈥淎s you鈥檙e watching your child miss milestones while other kids fly by, you kind of know something isn鈥檛 right, but tend to live in denial and say, 鈥楽he鈥檒l catch up,鈥� to make yourself feel better,鈥� says Kristina Checklick, a Culver City, California mom whose daughter Rowen is also four. After genetic testing, the Checklick family learned that Rowen had not one but two genetic mutations, SLC6A1 and Noonan鈥檚 Syndrome. 鈥淚t was a day of lots of tears, but also a catalyst for a newly-found courage we鈥檇 learn to move forward with, because our little girl deserves that, and so much more.
Rowen was 22 months old when the Checklick family received the diagnosis. Other families wait much longer, sometimes exhausting all tests and available experts. 鈥�Children鈥檚 Hospital in Seattle had 鈥榬un out of tests鈥� to diagnose Ella,鈥� says Sarah Amandus, who lived eight years without an answer about her daughter鈥檚 condition. 鈥淪o, we decided to accept the fact that she wouldn鈥檛 receive one and it was time to just support her with love.鈥� But around that time, the University of Washington had received funding to start a whole exome sequencing research project. Ella, who is now 12 and lives in Snoqualmie, Washington, was selected as the first patient. 鈥淎bout a year later on Christmas Eve, we had a check-in with the head of genetics at Children鈥檚,鈥� says Sarah. 鈥淲e had completely forgotten about the test. He walked in and said, 鈥楧o you want to know your daughter鈥檚 diagnosis?鈥� SLC6A1. We were floored but received a great Christmas present that year!鈥�
In high-income countries, genetic disease patients often remain undiagnosed for up to seven years or more, while in low- and middle-income regions, many families never know the cause of their child鈥檚 suffering. The 鈥渄iagnostic odyssey鈥� costs families time, frustration, money, and heartache. But whole-genome sequencing (WGS) is one way to arrive at a diagnosis within weeks.
Since receiving a diagnosis for Maxwell, Amber Freed founded a patient advocacy group, , to build awareness and raise funds for scientific research, with the ultimate goal of finding a cure.
Rare is many
While there are individual rare genetic conditions like SLC6A1, rare disease is collectively common. Genetic diseases affect about worldwide, the vast majority of whom are children.
In 2008, -Rare Diseases Europe, a nonprofit alliance representing 984 rare disease patient organizations in 74 countries, created Rare Disease Day to 鈥渨ork towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease.鈥� The day is observed every year on February 28 (or 29 in leap years鈥攖he rarest day of the year).
VR真人彩票 recognizes Rare Disease Day and extends it to the entire month of February in order to highlight and support various organizations. This year we are focusing on in the US, in Japan, in Romania and . The patient advocacy team at VR真人彩票 sent Polaroid cameras and asked these four organizations to capture a day in the life of a rare disease family. We received hundreds of photos and anecdotes from families on four continents, some of which you see here (stay tuned for more throughout the month).
鈥淚t means the world knowing that there are people all around the world who sincerely work at making the lives of those with rare diseases better鈥攚hether they are therapists, volunteers, doctors and scientists, or loved ones who put their entire hearts into creating smiles and a life of joy,鈥� says Kristina Checklick.
At VR真人彩票 we embrace the mantra, 鈥淩are is many, rare is strong, and rare is proud.鈥�
