Entries in SMA (2)


Parents’ Bucket List for Dying Baby Girl Goes Viral

Mike and Laura Canahuati(HOUSTON) -- On Good Friday at around 3:30 p.m., Laura and Mike Canahuati of Houston got a call from a neurologist confirming their worst fear. The tests results showed their 5-month-old daughter Avery has a rare and incurable genetic disorder.

Avery was diagnosed with spinal muscular atrophy, a genetic disorder that attacks spinal neurons and progressively debilitates muscle function. Avery’s was Type 1, the most severe kind, and doctors told them their little girl had only 18 months to live.

“We had several days of sitting in shock and crying and then we pulled ourselves out of that,” Laura said. “Since we had such a short time, we knew we wanted to make the best of it.”

To cherish every moment with Avery, the Canahuatis created “Avery’s Bucket List,” a blog written from Avery’s perspective where they chronicle her world and track their family adventures, checking things off from the bucket list as they go.

The bucket list includes milestones in every child’s life -- from sitting up, kissing her mom and dad, to having a birthday party, meeting Santa Claus, losing a tooth, visiting college and more.

“We have our days, it’s not that we don’t,” said Mike Canahuati, 31, who writes the blog in his daughter’s voice. “The blog made it into … ‘Let’s go to the Canahuatis and smile at Avery and appreciate life instead of crying.”

“I have a lot of living to do in just a little bit of time,” Avery “writes” on the blog. “In everything I do, the two most important things are that I’m spending time with my mommy & daddy, while at the same time spreading awareness for SMA.”

Avery’s story and bucket list has struck a chord online. Since the Canahuatis started the blog earlier this month, it has racked up close to 500,000 page views, Mike said, with people as far as Malaysia, Hong Kong, Germany and New Zealand visiting it.

“When we saw how many people it was reaching in a few days, that’s when we realized we could really get the word out on SMA and spread the word as much as we could,” said Laura, who worked as a kindergarten teacher before giving birth to Avery, an 11-11-11 baby.

SMA is the No. 1 genetic killer of children under the age of 2 in the U.S., but most people don’t know about it, Laura explained.  An estimated one in 40 people are carriers of SMA. If both parents are carriers, like Laura and Mike are, there’s a 25 percent chance of their child having SMA.

Laura and Mike urge all parents to talk to their OB GYNs and get tested to see if they are a carrier for SMA.

“Our goal for Avery to be the face of SMA. Just like when you say the word cancer, I don’t think there’s a single person who doesn’t know what cancer is, we want it to be the same for SMA,” Laura said.

Avery has already lost the ability to move her legs. She can barely move her arms and doctors say eventually she will be unable to move her head or breathe without the help of a respirator. Last week, she had a G-Tube put in so she can be fed through a line in her stomach and her parents constantly monitor her oxygen levels since babies with SMA have difficulty regulating their breath.

While the parents know Avery won’t be able to fulfill many of the rites of passage that are on the list, they are finding joy in what their baby can do -- tasting solid foods, taking a “big girl bath,” flying a kite and blowing bubbles -- and are finding a way to share in some of the later milestones with her now.

Fast forward a few years, Mike and Laura took Avery on her first college visit to their alma mater at Texas State University, earlier this month. Avery just got her very own (faux) driver’s license made -- one with an ugly picture and one with a great picture, hitting two items on her list.

Thanks to some mommy matchmaking, she scored her first kiss from a boy named Cooper “McDreamy,” who also has SMA.

“His name is Cooper and he’s 19 months old (I just love older men, they’re so much more mature than 3 & 4 month olds),” Avery gushes on the blog. “My mommy and daddy said this might be the best kiss since Ryan Gosling & Rachel McAdams in The Notebook.”

Friday night, Avery will get to throw out the first pitch at a baseball came for a new minor league team in Houston, the Sugarland Skeeters. Another day, another adventure.

The last thing on the bucket list: to overcome her illness. Laura and Mike know that will not happen since the research is too far off to save Avery, but they hope their daughter’s story will raise awareness for the disease and help find a cure.

“No one should have to go through this,” Laura said.

Copyright 2012 ABC News Radio


Rare Disease Mimics Child Abuse, Tears Family Apart

Courtesy of Paul Cuin(HENDERSON, Colo) -- William "Dave" O'Shell, distraught over charges of child abuse that were being leveled against him, snapped on June 30, 2008, killing his wife, Tiffany O'Shell, in their Henderson, Colo., home before taking his own life.

Just a few weeks earlier, their 3-month-old daughter, Alyssa, had been placed in a foster home because x-rays revealed 11 broken bones and doctors assumed that she had been beaten.  But they were wrong.

On the same day as the murder-suicide, a doctor at Colorado Children's Hospital suspected something else and was later proved right: Alyssa had a rare genetic disorder that caused her bones to fracture -- one that authorities had confused for abuse.

Alyssa died of spinal muscular atrophy (SMA) on Oct. 28, 2008, but the tragedy has rippled through a family and an aggressive social services system that is meant to protect children.

Now, four years later after all lawsuits have been unsuccessful, Alyssa's maternal grandparents are saying the tragedy could have been averted.

"We were looking for action.  We could care less about the money," said Paul Cuin, Tiffany O'Shell's adoptive father.  "We wanted someone to sit up and say, 'This is wrong and we need to change things.'"

Cuin said there were no avenues for the O'Shells, both respected police officers, to plead their innocence.

"If our kids had some sort of outlet or grievance process or gone to someone, we would have a whole different story today," he said.  "The system has to change."

A judge gave Cuin, 59, and his wife, Jackie Cuin, 50, custody of Alyssa after the death of their daughter and son-in-law, despite the objections of social services, according to a story first published in the Denver Post.

"They were wonderful parents," said Paul Cuin, who is a supermarket manager.  "We never had a single doubt in our minds [over whether] abuse was involved.  We knew from the beginning, they loved that baby."

They nursed Alyssa until her death and are convinced that if doctors knew more about SMA, the disease might never again be confused with child abuse.

Spinal muscular atrophy is a genetic neuromuscular disease characterized by muscle atrophy and weakness.  It is caused by a mutation in the gene on the long arm of chromosome 5, which makes a protein that is important in the cells of the spinal cord and lower brain stem.

It is not always a death sentence, but those with the most serious form, like Alyssa, can suffer respiratory failure.

The disease is the leading genetic cause of death in infants and toddlers, affecting as many as 10,000 to 25,000 children and adults in the United States, according to the SMA Foundation.

Copyright 2012 ABC News Radio

ABC News Radio