Participants at a Zumba fundraising event at Holy Redeemer School in Spaniard's Bay on May 24 were greeted by an abundance of purple balloons.
Purple is Amber Drover's favourite colour. The fundraiser helped raise $12,000 for Amber's future medical and travel expenses related to a rare genetic disease.
Amber, a six-year-old from Upper Island Cove, was born with Inclusion-cell disease (I-cell), also known as Mucolipidoses (ML) II. She is smaller than an average two-year-old. Amber may need a breathing machine and the cost to find out is not covered under the province's Medical Care Plan.
I-cell is caused by a deficiency in enzymes in the body.
It is so rare there are very few statistics available on the disease and there is no cure. Both parents must be a carrier of the gene for a child to be born with it. Neither of Amber's siblings have the disease, but at least one is a carrier.
The International Advocate for Glycoprotein Storage Diseases (ISMRD) vice-president Jenny Noble told The Compass through email from her home country of New Zealand she believes there are only three children in Canada with ML (I, II/III and III), but it is possible there are more.
Noble said symptoms of I-cell include being small at birth and having weak muscle tone, bone abnormalities are present, the possibility of spinal complications and potentially dislocated hips.
"These children usually stop growing during the second year of life," Noble said. "They are unable to crawl or walk (and) often there is limited language and motor skills."
Amber uses a walker.
One major symptom is mucosal thickening that narrows the airway over time, which is why the breathing machine may be necessary for those with I-cell. Amber's airway is narrow, and her mom Pauline was once told by an anesthesiologist that it was the "size of the top of a pen."
One type of breathing machine, known as a continuous positive airway pressure (CPAP) machine, can cost in the range of $2,100 to $8,000.
Pauline explained that Amber is experiencing a form of sleep apnea. There is no respiratory specialist in the province or a pediatric sleep lab with the technology to determine Amber's needs.
The Drovers have been advised by a Halifax doctor, Dr. Daniel Hughes, who visits the Janeway Children's Hospital in St. John's every few months, to travel out-of-province for a proper analysis. They are planning to go to Ottawa to have a sleep study completed.
"It is very stressful for a parent to see their child stop breathing throughout the night and during nap time," Pauline told The Compass. "It's a horrible experience having to shake your child so that she will breathe. There is this feeling in the pit of your stomach and the dreaded thought, 'what if she doesn't wake?'"
Amber's sleep issues have been affecting her quality of life, including being tired throughout the day.
"If she is here for another year or four years, I want her to be well-rested and enjoy her activities during the day," Pauline said.
Noble explained many of those with I-cell will, "pass away early in life due to their severe respiratory issues."
Some 150 people came to support Amber during the event, which included selling tickets on gift baskets, a Zumba dance event and to pick up purchased purple T-shirts that read, "I'm dancing 4 Amber."
Amber's cousin Terri-Lee Bishop planned the fundraiser, but had no idea the turnout would be so big.
Businesses and individuals from all across Conception Bay North donated items for draws.
Although the fundraiser was to help raise money, the main goal was to raise awareness for I-cell.
Pauline said she was unaware Amber had I-cell until her birth and the nurses noticed she had some "different characteristics."
Zumba instructors Amanda Thompson, Christa Clarke and Samantha Smith donated their time to lead the large group.
"It was a night to remember," Said Christa. "To see how our Zumba family and the community came together... it was overwhelming to see the amount of support we received."
At the end of the night
Once the Zumba was over, it was time for the big reveal. Amber sat on the stage, while Pauline stood in front of it.
Instructor Amanda carried a large cheque to the centre of the stage - $12,331.12.
"When Amanda and the other ladies revealed the cheque and I saw the number $12,000, the rest was a blur. I covered my hands over my face and I just kept saying to myself, 'That cannot be $12,000. Oh my God, that cheque says $12,000.'"
Many in attendance began to cry "happy tears" when the total was announced.
Pauline has created a Facebook support group for those who are raising children with the disease. It is called the "Support Group for I-cell disease."
Anyone who is interested in learning more about the disease can visit the Canadian MPS Society website at www.mpssociety.ca.