International rare disease support organization honors Taylorsville motherDec 01, 2021 03:02PM ● By Carl Fauver
A rare disease has made life a constant challenge for Jamii Stock and her daughter Christa. (Courtesy Jamii Stock)
By Carl Fauver | [email protected]
The drive from Jamii Stock’s Taylorsville home to Primary Children’s Hospital takes 12 minutes. The fact she knows that number off the top of her head is tragic.
Stock, 38, made that drive seven times in less than two years. Each time her youngest daughter, Christa, was with her on the way up. And every time, there was a very real possibility Christa would not be on the ride back. So far, the 4-year-old is a 7–7 round-tripper.
Christa suffers from one of more than 7,000 ailments the medical community officially designates a “rare disease.” Since researchers first discovered it in 2006, fewer than 500 people across the globe have been diagnosed with the genetic disorder BPAN (beta-propeller protein assisted neurodegeneration).
“In June 2018, when Christa was 18 months old, I was at work and my brother was watching her, when she went into a 20-minute seizure,” Stock said. “After reaching the hospital, she was unconscious for two days, intubated for three and stayed there a full week.”
An ambulance rushed Christa to the hospital that first time. Jamii’s seven life-or-death drives to Primary occurred between August 2018 and July 2020. Although it’s been nearly a year-and-a-half since her last emergency, Christa’s next always looms just around the corner.
“[Because BPAN is such a rare disorder], we did not have an official diagnosis for nearly two years after that first seizure,” Stock said. “At first, our neurologist thought it might be cerebral palsy. Christa is non-verbal and legally blind. With BPAN, she is only expected to live into her teens or early 20s.”
Each of Christa’s eight hospital emergencies were for multiple days. Among her many issues, Jamii says her daughter’s body cannot regulate its temperature, producing spikes up to 105 degrees with no warning.
As if caring for Christa was not challenging enough, Stock is also burdened by the knowledge she is the one who passed BPAN to her youngest child. Although the rare disorder has never manifested in Jamii, doctors determined she is the so-called “rare carrier.”
Since receiving the BPAN diagnosis in March 2020, Stock has Googled her way to expertise on the subject. During one of those many mouse-and-keyboard deep dives, Jamii discovered the international organization that recently honored her.
“I started searching for support groups and came across one specifically for parents of kids with BPAN,” Jamii said. “One of the mothers in that group wanted to send us a gift. She sent sensory toys for Christa and chocolates for all of the kids. She also told me about Angel Aid.”
Based in California and established in 2000, Angel Aid has set a goal to connect and educate the parents of 3.5 million kids who suffer with those 7,000 identified rare diseases. According to their website (angelaidcares.org), “ANGEL” stands for “A Nonprofit Group Enriching Lives.” They’ve also trademarked a couple of terms they frequently use: “Rare Mother™” and “Rare Carrier™.” Most often they are one in the same. Women are more frequently carriers of rare disease genes. And, 82% of the time, mothers are the primary care givers to kids stricken with these maladies.
“I contacted Angel Aid and eventually made a donation to them,” Stock said. “Then, last July, they held a virtual event where they announced four ‘Rare Mothers of the Year’ and one ‘Rare Carrier of the Year.’”
The online event, Angel Aid WELLfest 2021, included virtual participants from all over the world. WELLfest organizers say all mothers who care for children with rare diseases are worthy of being honored for their tireless work. Therefore, a completely random drawing from among some 14,000 mothers determined the five “winners.”
The four Angel Aid 2021 Rare Mothers of the Year are from Argentina, the United Kingdom, Sri Lanka and the United States. The one and only Rare Carrier of the Year turned out to be Jamii.
“They told me I will receive a package of gifts worth about $250 and a trip to their next weeklong caregivers’ retreat,” Stock said. “Angel Aid will pay the flight and hotel expenses for two of us to go to Arizona.”
Angel Aid WELLfest 2021 can be viewed on YouTube (https://youtu.be/X4eRoTP-4sk). The program runs nearly an hour, with arguably the most poignant moment provided by Jamii Stock herself.
Stock participates in online caregiver counseling sessions. In a clip from one of those sessions, shown during WELLfest 2021, Jamii describes a conversation she had with one of her daughters.
“Knowing some of my kids may be [rare disease] carriers and have this condition for their kids as well, is really breaking my heart because my sweet little 10-year-old said, ‘I don’t want this to happen to me, so I’m not going to have any kids at all,’” Stock told her fellow counseling session participants. “It’s just that feeling of, what have I done to my family? Knowing she had this dream of being a mother, and she is such a good caregiver to my 4-year-old. She’s so afraid of experiencing that it just breaks my heart.”
You can scroll ahead in the YouTube program to 38:55 to view Stock’s comments. Have a tissue standing by.
When Jamii makes that prize winning, all-expense-paid trip to the Angel Aid caregiver retreat in Arizona, a relatively new friend, Bonnie Mattix of Sandy, will join her.
“I was introduced to Bonnie in August 2020,” Stock said. “She had just lost her daughter a month earlier to another rare and degenerative disease. She has been such a support to me, and we have become fast friends. So, Bonnie will make the trip with me next summer.”
It will be a somewhat extended separation for Jamii and Christa. But it’s a safe bet Jamii’s parents (who live in Kearns) and her three nearby siblings now all know that 12-minute route to Primary Children’s Hospital.