SMA is so new; it has only been identified over the last two decades or so. The disease is progressive, and that
progression cannot be arrested by any known treatments or medicines. It is relentless. Its impact may be slowed, but not stopped.
Brad, Riley's father, said other parents of SMA children say doctors didn't take them seriously when they first started noticing physical signs of a problem with their children.
"Most pediatricians would have dismissed us and our concerns, but we had a progressive pediatrician," said Patricia, Riley's mother.
Similar to other parents with disabled children, Patricia and Brad have become experts on
SMA, getting much of their knowledge from the organization Families of Spinal Muscular Atrophy
(FSMA), see www.fsma.org.
SMA is a recessive trait. SMA children require extensive assistance breathing. Ninety percent die from breathing complications by the age of two.
As the disease attacks Riley's lung muscles, it leaves them too weak to help draw full breaths and to make complete exhales.
That inability to do so leaves fluid collecting in the lungs. When it accumulates too
much, it must be removed.
Though SMA dims their futures, SMA children are paradoxically bright.
'We have met many other children Riley's age. All the others we've met didn't have the vocabulary Riley had except for
two, one of whom also has
SMA. "SMA children," she added, usually score 15 points higher than average on verbal IQ tests; five points higher on general IQ tests. Riley was using three and
four-word, complete sentences by the time she turned two.
There may be a downside to Riley's intelligence. She is quick to
observe, to react, and to make mental notes, Patricia said.
Riley sometimes doesn't like what she sees. We were at a wedding reception. Other kids her age were playing. She was clearly upset in a way that
said Why aren't I down there playing? We have difficult emotional moments, Patricia continued.
We don't talk about her becoming weaker or what might eventually happen to her.
We keep our discussions positive about Riley. We have briefly talked about using a tracheotomy some
day, but its hard do discuss that without seeing other examples of SMA kids using them first.
We talk about what we need to do for her now, she said.
And there's quite a bit to do. From 9:00 am to dinnertime, Riley is on a series of treatments using various machines.
How did all this happen?
SMA comes from a recessive gene both Brad and Patricia carry. After talks with family
members, they think there may have been a great or great-great aunt who died as a child of
SMA. SMA is relatively rare. About one in 6,000 persons, according to FSMA
literature, carry the recessive gene. That means one SMA child is born for every 6,000 live births.
The Smiths know of only nine other children in Indiana with
SMA, six of those in the Indianapolis area. However, in the U.S. alone it's estimated seven million person are carriers of the gene for
SMA. In this case that means Brad and Patricia's second
child, Emily, who weighed in at nearly 10 pounds when she was born last
September 24th, may be effected. While test show Emily doesn't have
SMA, she has a 50% chance of being a carrier.
Emily's umbilical cord remains frozen. The family hopes stem cell research might develop a treatment or even a cure for Riley. If it's not developed in time for
her, the umbilical cord might help other SMA children or children with
cancer, Patricia said.
Riley and mom or dad make trips every three months to Salt Lake City where Riley is participating in a drug safety study at the University of Utah Medical Center and the Primary
Children's Medical Center.
There are two reasons the family wants to tell Riley's story:
1. To make more people aware of SMA; and,
2. To help parents appreciate all the time they have with their children.
We have an advantage, Patricia said. We enjoy every second we get out of her. You wouldn't believe the (electronic) equipment we buy:
camcorders, computers, cameras . . anything to take advantage of every second we have with her.
They also hope to convince national legislative leaders to push for more than the current $5 million in annual funding the National Institutes of Health receives for SMA research.
They, along with other FSMA member parents, met last year with U.S. senators asking for more funding.
It's frustrating because more children are affected by this disease than people realize and more children may be affected and die if we don't do more research and develop a drug to help them and others with similar
disorders, he added.Costs & Equipment
1. The vest: a roughly $16,000 device taking the place of a respiratory therapist. In two pieces, it's wrapped around her chest and back and provides a rapid succession of pounding thumps, clearing alveoli (air sacs) in Riley's lungs.
2. The cough assist machine: a $12,000 device using a mask to provide positive and negative pressure to Riley's chest and lungs to help clear them. She's on this machine one to two times a day, 15-20 minutes at a time. When congested or
sick, she's on it several times a day.
3. A feeding pump: SMA doesn't allow Riley much chewing or swallowing strength nor the throat muscle strength to move food down into her stomach. The pump supplies liquid nutrients through a nasal tube. A day's supply is about $15. Insurance DOES NOT PAY THIS!
4. The big red chair and table: A $1,000 device. It is provided by First Steps and allows Riley to sit up and to play, using her hands. And playing, especially with small toys she has to grip, is as much therapy as it is fun.
5. A "stander" helping build strength in her lower torso, preventing Riley's hips from displacing. She stands in it two times a day. 45 minutes to an hour at a time.
6. A BiPap keeps Riley breathing through the night. To get Riley to wear the necessary BiPap mask, Patricia and Brad put a corresponding mask on Riley's favorite stuffed raccoon, her sleep buddy.
7. An $11,000 - $12,000 power wheelchair.
8. Foot and ankle braces Riley wears to prevent her feet from permanently contracting.
9. A thoracic-lumbo-sacralorthosis (TLSO) is a back brace running from just below Riley's armpits to below her hips.
10. Wrist splints.
11. An apnea monitor sets off an alarm if Riley's heart or lungs stop working while she's sleeping. And yes,
it has gone off, but only because of electric shorts.
12. A suction machine used only if riley is congested.
And then there are drugs. Riley takes daily doses of Albuterol and Intol, broncho dilators helping remove phlegm in her lungs.
Riley gets plenty of help from professionals and other family members, too.
A physical therapist visits an hour two times a week. Speech and occupational therapists each come for an hour once a week.
The speech therapist is needed, Patricia explains, because Riley's vocal muscles need exercising to have the strength to push through the air volume needed to clearly enunciate words (although mom and dad are excellent interpreters).
The therapists cost $80 an hour each. Indiana's First Steps covers most of that, but the Smiths' co-pay is $150-$200 a month.
Riley also has a full-time, Monday through Friday babysitter the family found through an ad they placed in a Lilly electronic classified.
She and the backup babysitter have been trained in using all of Riley's appliances and the feeding machine.
|
