Two months ago five-year-old Brooke Aubuchon turned to her father Darcy and uttered one word that gave the greatest gift of hope a parent could ever have.
Little Brooke said “daddy.”
Darcy could not remember the last time Brooke said that magic word. More importantly, it meant something even more remarkable. It was proof that Brooke's life-saving surgery at Weill Medical College of Cornell University in New York City on Feb. 26 to arrest her incurable and fatal Batten disease was producing a powerful positive sign.
“Before she got sick she used to day ‘daddy' and ‘hat', and ‘I'm mad' but that all stopped. Now she says ‘I'm mad' over and over again,” said Darcy.
Brooke's courageous journey began last October when she was first diagnosed by doctors at Calgary's Alberta Children's Hospital with Batten disease, an inherited disorder of the nervous system that claimed her eight-year-old brother Alexander on Sept. 20, 2011. There are less than 500 current cases of Batten disease worldwide and only 10 reported in Canada.
Batten disease children become blind, bedridden, and demented, according to published studies. Afflicted children may also suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Although many don't pass away until the late teens or 20s, the disease often claims the very young, like Brooke's brother Alexander.
The clinical trial surgery in New York City was considered the last chance to save Brooke's life. The treatment, which involved drilling six holes into the frontal lobes of Brooke's skull and inserting a virus from a primate, is not available in Alberta or in any part of Canada. The provincial government, citing a policy of not supporting experimental out-of-country procedures, would not help the financially challenged family with the expense of paying for Brooke's expenses to go to New York for the potentially life-saving treatment.
However, Central Alberta residents and businesses contributed more than $33,0000 to the family, including thousands from Jodi McCutcheon, a Red Deer mother who raised thousands of dollars for the family through her “sock monkey doll campaign.”
“We have not seen any further decline in Brooke's condition,” said Darcy. “In May she had eight seizures in three hours and had to be rushed to hospital, but she hasn't had any in two months.
“Brooke is saying a few new words and her balance is better, which is encouraging. And her sight is normal,” added Darcy. “My biggest fear has been that Brooke would go blind.”
But there is still a long way to go before doctors are convinced that Brooke's Batten disease has been fully arrested.
She is currently under 24-hour care because she can't be left alone for safety reasons. Brooke has no balance. She relies on a special walker.
“The surgery was not a cure. The point was to stop the disease from progressing,” said Darcy.
He said the only hope for a reversal is for stem cell transplant treatment, which he will consider when the New York City clinical study is completed in 18 months.
But that will cost between $80,000 and $90,000, which is unlikely to be paid for by either the provincial or federal governments. In the meantime, Darcy and his wife Robin Brand have to take Brooke back to New York City at least three more times to be evaluated by doctors. From the $33,000 they had through the generosity of Central Alberta residents they have only about $18,000 remaining.
For now though, the family is just grateful Brooke's condition has not worsened. Darcy knows there is little chance his daughter will ever have a normal life but he will be happy if she remains the same as she is today and has a long life that is filled with meaning, happiness and love.
“She is a happy little girl, certainly not a miserable child. She has her bad days but she also has her good ones as well,” said Darcy, adding his little girl will go back to school in September. “You can see that she can really smile and see the world for what it is.”
