Brooke Aubuchon eagerly opened her Christmas stocking on Dec. 25 to find a little homemade sock monkey doll. The four-year-old cast out a broad happy smile. Her eyes lit up with pure joy. This was, after all, a special monkey.
There was also another Christmas stocking under the tree. It too contained a sock monkey. It was extra special. It was for her brother Alexander.
But he would never get to see his monkey. Alexander died Sept. 20, 2011 at the age of 8. He passed away from Batten disease, a rare, fatal, inherited disorder of the nervous system.
Last October the family learned Brooke too has Batten, known in the medical community as infantile neuronal ceroid lipofuscinosis (NCL). She too will die.
ìWe kind of knew beforehand it was Batten disease,î said Brooke's mom Robin Brand, recalling her anxious thoughts while waiting for the doctor's report. ìWe had prepared ourselves.î
But there is a sliver of hope for Brooke. On Jan. 23 Brooke will go with her mom to New York City's Weill Medical College of Cornell University. Brooke will be assessed to see if she qualifies for a clinical trial of gene therapy treatment.
ìThere is no cure or treatment for NCL,î wrote Dr. Aneal Khan, a medical genetics specialist at Calgary's Alberta Children's Hospital, in an Oct. 23 letter to Brand's Red Deer doctor. ìBrooke has the Arg208X (gene) mutation which should qualify her for recruitment into the study.î
Brooke's opportunity in New York is one Alexander never had.
ìThe doctors told me Alex was too far gone. They told me to go home, that there was nothing they could do,î said Brand. ìAlex was Brooke's age and he was already going blind and not walking.
ìWe didn't think we would have to do this again but here we are,î she added. ìWe are crossing our fingers, for hope. That's all we have ñ hope.î
The early symptoms of Batten disease, named after the British pediatrician who first described it in 1903, usually begin between the ages of 5 and 10 years. The child may develop vision problems or seizures, the latter which began for Brooke almost a year ago. The early signs are sometimes not easily noticeable, taking the form of personality and behaviour changes, including slow learning, clumsiness, or stumbling. Afflicted children may also suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills.
Ultimately, Batten disease children become blind, bedridden, and demented, according to published studies. Although many don't pass away until the late teens or 20s, the disease often claims the very young, like Alexander.
Batten disease has been linked to at least 20 genes but the one most prevalent with the young is a mutation called CLN3. The medical community has concluded the gene that causes Batten disease must come from both parents. This fact alone establishes Batten disease as a rare affliction. However, in the case of the Brand/Aubuchon family, the two afflicted children ñ Alexander and Brooke ñ had different fathers, a fact that makes the odds of what has happened almost astronomical and incomprehensible.
ìI couldn't even guess,î said Bev Maxim, president of the Canadian chapter of Batten Disease Support and Research Foundation, a non-profit group based in Regina.
Maxim, who lost two children to Batten disease and has helped Brand with her challenges, said it is considered by the U.S.-based National Organization for Rare Disorders as an ìorphan diseaseî, as it affects such a small percentage of the population. She said while there are just over 500 known cases of living citizens throughout the world battling Batten disease there are only 10 known ones in Canada.
As there are so few people in Canada affected by Batten disease, it is totally off the map in Canada for either provincial or federal government funding.
ìGetting attention is difficult. There is nothing happening right now in an active sense,î said Maxim. ìFunding is driven by statistics. The money goes to disease conditions that are prevalent, such as cancer.î
But she did add there is ongoing study and research in the United States, the United Kingdom, Australia and Finland.
ìThere are a number of scientists who have said we are going to find a solution to this,î said Maxim.
In the meantime, Brand and little Brooke are preparing themselves to go to New York. But the family, who live solely on the income of Brand's partner Darcy Aubuchon, are financially challenged. While the medical assessment is being paid for by the Weill Medical College, the family still has to raise the necessary funds for travel, hotel accommodations and meals. The provincial government will not help the family with the cost to go to New York.
ìOur regulations concerning out-of-country services is that the Alberta government will not fund services that are experimental or applied research such as clinical trials,î said Bart Johnson, press secretary for Alberta's Minister of Health and Wellness Fred Horne.
With government funding not available, friends of the family have stepped up with a local fundraiser, which will include a silent auction, on Feb. 1 at Innisfail's Fox and Hound Sports Pub. Another one at Sylvan Lake's Hazzard County Bar & Grill is also being planned at an undetermined date.
But there is more hope. Jodi McCutcheon, a stay-at-home Red Deer mother and a former junior high school classmate of Brand's, began creating sock monkey dolls almost four years ago when her son asked for something similar he saw at a market. She has since made many for Innisfail's annual Relay for Life campaign, with the proceeds going to the Canadian Cancer Society. When she heard about Brooke's condition she stepped up. McCutcheon set up a Facebook page for Brooke, and began making sock monkey dolls to help the family financially. Each doll is adorned with a blue heart and gold stitching, the official colours for Batten disease.
ìWhen I first heard Robin had a son who was sick I wanted to be with her but life got in the way. When I heard about Brooke it broke my heart as she was again going to have to bury a child,î said McCutcheon. ìWe need to tell people what we can do. I helped Robin create the Facebook page for Brooke. When she was telling me about the New York clinical drug trial I told her I would do anything I could to help with fundraising.î
In the last month McCutcheon has been approached to make more than a dozen sock monkey dolls for Brooke's cause. They sell for $20 each with $15 going to help Brooke while the remainder pays for costs.
Meanwhile, Brand can only hope for a miracle. The chances for her daughter are slim at best. But Brooke has her monkeys, each one offering a tiny bit of hope as the days count down to New York.
ìHer eyesight will go eventually. Developmentally, she is stuck at 18 months old,î said Brand. ìIt is one day at a time now. I have been through it before. I know what is in store.î
For more information on McCutcheon's sock monkeys search Creations from the Heart by Jodi on Facebook or phone 403-755-4542. To follow Brooke's journey search Brooke's Hope and Fight with Batten Disease on Facebook.
