Waiting for a cure

Horizons helping family deal with life-altering disease

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A little less than a year ago, Rick and Shelly St. Pierre's world was turned upside down by the news delivered by a crying doctor: their young son had spinal muscular atrophy.

The family soon would start to see their son Remy's muscles degenerate.

The news meant that Remy, 22 months old, would never learn to ski, someday would have to use a wheelchair and most likely would not live a full adult life. The news came with very little hope -- there is no cure for the disease and no proven treatment.

Dec. 8, 2003, the day of the diagnosis, changed the St. Pierres' lives forever. Almost a year later, the family continues to grapple with the shock of having a son with a life-threatening genetic disorder.

"It is a situation where they hand you your child back and say, 'I am very sorry. There is no cure, no treatment, take him home, do what you can and love him until he dies,'" Rick St. Pierre said.

At first glance, Remy is a typical 2-year-old. He is a sometimes shy, tow-headed boy with bright eyes. When he warms up, Remy talks in complete sentences and makes it known that he likes "Bob the Builder" cartoons.

But there are signs he is not like every other toddler. He can't stand up without

the support that comes from putting his hands on his legs. He does not run.

His parents constantly watch to see how much of his body the disease will effect and whether Remy will start losing muscle movements.

Although Remy looks almost identical to his 4-year-old brother, Marty, they have one very different gene. Most likely, Marty will not have spinal muscular atrophy, his mother said, because family members who are afflicted typically have similar types of the disorder and are diagnosed at about the same age.

Spinal muscular atrophy is a disease of the anterior horn cells, which are in the spinal cord and are the main motor nerves that control muscles. It comes in various forms, all of which are inherited and sometimes fatal diseases that destroy the nerves controlling voluntary movement. It affects crawling, walking, head and neck control and even swallowing.

SMA is the No. 1 genetic killer of children younger than 2. One in 6,000 babies born is afflicted with the disease, and 50 percent of those diagnosed before age 2 will die before their second birthday.

"I never imagined it was so possible to be so heartbroken," Rick St. Pierre said about the day he found out that Remy had the genetic disorder.

The St. Pierres are one of the families that Horizons Specialized Services assists in Routt County. Remy is part of Horizons' Early Intervention Program, receiving physical therapy to help maintain his muscles. The family also receives monetary support for their many trips to Salt Lake City and Denver for treatment.

Each year, Horizons holds a Little Points of Light campaign to raise money for the Early Intervention Program. This year, Horizons has added its Family Support Program to the fund-raiser.

Every case is different

Rick and Shelly St. Pierre each are among the 1 in 40 people who carry the recessive gene that causes SMA. Because the symptoms do not show up in carriers, they never knew they had it until Remy's diagnosis.

Rick came to Steamboat 15 years ago to ski and play music. He plays the piano at Hazie's at night and is Mr. Mom during the day. He has spent 13 of his winters as a ski instructor in Steamboat.

Shelly grew up in Craig and met Rick 11 years ago when his band was playing at the Tugboat Grill & Pub. The two were married a year later.

"I uprooted my whole life to come here and raise a family and ski with my kids," Rick said. "Now, that is never going to happen."

Because of the age at which Remy first showed symptoms, he was diagnosed with a Type II level, an intermediate level of the disease. But doctors said he could be between a Type II and Type III, which is a less severe form of the disease.

The St. Pierres do not know how long Remy can live with the disease and how crippling it will be. Each case of SMA is different. Shelly heard of one man who was diagnosed at age 2 and has lived into his 40s with four or five children; he is starting to use a scooter to travel long distances.

She also knows of a girl in Denver who had a very similar diagnosis to Remy and is now 10 years old and uses a wheelchair.

"Every person has a very different life expectancy," Shelly said. "You're not going to have a normal life span, you're very lucky to live into early adulthood or mid-adulthood."

But the St. Pierres' greatest concern is Remy catching a cold or the flu. Being in bed, immobile for a week or even a few days could be devastating for his muscles. Once he loses any muscle movement, chances are he will not regain it, Rick said.

Most people with SMA eventually die of respiratory failure, Shelly said, as the muscles around the lungs weaken.

"We just want to put him in a little bubble and keep him there," she said.

The St. Pierres noticed something was wrong when Remy's arm started shaking when he was hungry, hurt or scared. They mentioned the tremors to their family doctor, who did blood tests. In August 2003, they took Remy to a neurologist at The Children's Hospital in Denver for more tests, all of which came back normal.

That November, during another routine visit, the pediatrician noticed other areas of concern, such as Remy not being able to stand upright without using his hands to push off his legs. More blood tests and DNA tests were conducted and came back positive for SMA.

There is no cure for the disease and no set medical treatment. Remy is in a clinical trial in Salt Lake City, where he has been taking the drug Depakote, which is used in adults for migraine headaches.

The drug is intended to keep him on his feet as long as possible, but it does come with side effects, including liver damage. Shelly thinks the drug is working, noting that Remy has regained his ability to crawl up their stairs.

Horizons helps

The St. Pierres go to Denver every six months and to Salt Lake City every three months for clinics. Horizons assists by helping to pay for their gas, lodging and some food expenses.

The money for Horizons' Family Support Program comes from the state Legislature and helps families meet the extraordinary expenses that are associated with raising children with special needs, Horizons Executive Director Susan Mizen said.

It goes toward the expenses of all-day trips to hospitals, to respite care or to cover medical bills that insurance companies do not.

Most of the treatment for the SMA is supportive and involves physical therapy. Remy is involved in Horizons' Early Intervention Program, where he does physical therapy at his gymnastics classes and has a private session at the Horizons' therapy center.

Horizons also helped the family make their staircase easier for Remy to use by carpeting the steps so he could climb them more easily.

The Early Intervention Program, in its 27th year, works with children who face developmental delays caused by genetic disorders, premature birth, low birth weight, a difficult birth or frequent ear infections.

Focused on children from infancy to 3 years old, the Early Intervention Program is designed to prevent further delays and offer therapy before they are old enough to use the specialized child-care provided by the school-funded Northwest Colorado Board of Cooperative Education Services program.

Facing cuts

Horizons' Family Support and Early Intervention programs have seen drastic cuts in state funding in the past two years.

Horizons had been receiving $80,000 a year to help 120 families with special needs through the Family Support Program. Two years ago, that state funding was cut in half -- but the need for it was not, Mizen said.

Horizons serves about 65 children in its Early Intervention Program, and the state funds less than half of those children in the five counties -- Routt, Grand, Jackson, Moffat and Rio Blanco -- the program reaches.

Funding for the program is about $100,000 a year, and the average cost of monthly services is about $350 per child.

To help maintain the programs, Horizons has started the annual Little Points of Light fund-raising campaign. For every donation made, a light bulb will be lit on trees outside each of the five county offices. Hopes are to match last year's goal of raising more than $18,000.

Because of the critical need to help children as soon as possible, it is Horizons' policy not to put anyone on a waiting list.

"It's just trying to make the money stretch as far as it can. We do fund-raisers like this to help us through," Mizen said.

Shelly St. Pierre said they knew nothing about what Horizons did until she called to find out about physical therapy for Remy, even before the final diagnosis was made.

"They have been a big help," Rick said. "I want to make sure they know how appreciative we are of what they have done."

Other members of the community also have aided the St. Pierres. Rick St. Pierre said that after finding out about the disease, his co-workers at the Steamboat Ski and Resort Corp. donated money to the family. A business in Craig also did a fund-raiser for them, and Shelly St. Pierre said her employers at Windemere Landscape and Garden Center have been extremely understanding. The couple also has nearby family to help out and is blessed with neighbors who are willing baby sitters.

"You go through the grieving process. It is not what you thought it would be with children," Shelly St. Pierre said. "But on the other hand, I realize what an incredible gift it is that, because of this situation, these people come into your lives."

The St. Pierres' greatest hope is that a cure will be found for SMA -- something that takes research and money. Shelly calls SMA an "orphan disease" because most of the children diagnosed with Type I, the most severe form of the disease, do not live past age 2.

"(Drug companies) don't pursue anything to try to help this disorder. Kids don't live long enough, and they don't make any money off of it," she said.

But for the St. Pierres, research is the best sliver of hope they have.

"All you can do is hope they will come up with something," Rick said.

-- To reach Christine Metz call 871-4229

or e-mail cmetz@steamboatpilot.com

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