Even though spinal muscular atrophy (SMA) is the number one genetic killer of children under the age of two and is estimated to occur in 1 in 6000 births, all too often parents tell of a long and stressful path to their child’s SMA diagnosis. Many times this is simply due to a physicians inexperience with SMA and so the signs of the disease are not immediately recognized. But, the story of the Hoskins family of Greencastle, Indiana seems particularly burdensome. It involves ignored symptoms, lost medical tests, a misdiagnosis, and months of unnecessary intravenous treatment.

Thankfully, Zion Hoskins, just short of his second birthday, is doing well. His mom, Chelsea said, “It’s hard to watch him struggle. He’ll fall over, but he gets back up and keeps trying.” Even though Zion’s parents know that the future will likely include feeding tubes, breathing machines, and wheelchairs, they are optimistic that their son will have the opportunity to enjoy many of the same experiences as his peers. “It’ll be interesting to see how things progress,” Paul, Zion’s father, said. “I like to think Zion is going to prove all the doctors wrong.”

Read their story by clicking here.

Satori Lewis is like a lot of girls her age, with one major difference: she has spinal muscular atrophy (SMA) type 2, the intermediate form of the genetic, neuromuscular disease. Because the muscle weakness caused by SMA, Satori has developed scoliosis and will soon be heading to California for spinal surgery. As her mother Melissa describes it, “they will open her back from the neck all the way down, insert 2 titanium rods, one on either side of her spine, wire the whole thing up and place donor bone in between all the vertebrae. Eventually it will all grow together “fusing” her spine into one long bone.”

After the surgery, Satori will have remain in the hospital for 7-10 days, but her mom has a plan to try to help that time pass better. Melissa has put out a request for postcards from around the US and the world to be delivered during her daughter’s hospital stay. The plan is to surprise this straight-A student with a new atlas where she can track where all the postcards originate. The hope is that Satori will get two things out of this: global well-wishes and a geography lesson.

For information about how you can send a postcard to Satori, click here.

All too often, news in the SMA community is full of sadness and heartache as spinal muscular atrophy (SMA) takes its toll. This makes celebrating happy stories that much more important. Here are two such stories.

The Children’s Wish Society of Malaysia (CWS) and MPH Group of Companies have made 13 year old Alicia Loh’s dream come true. Diagnosed with type 2 SMA ten years ago, Alicia has been enjoyed reading books and writing short stories. While visiting America for spinal surgery, Alicia wrote her own book entitled The Last Chapter about a girl trying “to understand the meaning of life.” Now, this book will be available for sale in MPH bookstores around Malaysia. For the full story, click here.

In Connecticut, the Takacs family received an amazing Christmas gift. A community of strangers came together to create a special portable bed for 4 year old Ethan who has type 1 SMA and had outgrown his crib. Ethan’s dad had gone to Hemingway Custom Cabinetry to investigate how much a special bed would cost to make. After learning more about Ethan and his needs, Hemingway Custom Cabinetry and their vendors donated time and materials to create the bed which they delivered last week. To read more, click here.

If you have more uplifting stories to share as we move into the new year, share them with FightSMA on Facebook or Twitter.

Gabriella Garbero is an 18-year-old student at the University of Missouri. Like many freshman, she took part in rush which culminated in accepting a bid from the Kappa Kappa Gamma sorority. But with this experience, Gabriella made history at MU by becoming “the first woman in the university’s history to participate fully in rush while using a wheelchair.”

Gabriella has type 2 spinal muscular atrophy. To enter sorority houses during rush, a friend set up portable ramps so Gabriella could maneuver her wheelchair over stairs. Now that she is a Kappa Kappa Gamma sister, Gabriella keeps two temporary ramps at the house, which the sorority says will be replaced by permanent ramps. Despite these improvements to the house, Gabriella will not be able to live there due to additional accessibility limitations and her dependency on additional personal aides.

With the thousands of students with disabilities on campus, Gabriella does think it is strange that she is the first to pass this milestone. But, she does give her family credit for her decision to rush, saying “I was blessed to be raised in a family where I wasn’t limited just from being in a wheelchair.” Gabriella has already inspired others to follow in her path, as her roommate, who also uses a wheelchair, is considering the next rush season.

To read the full article from the Columbia Missourian, click here.

Sarah Kennedy had just given birth to her second daughter last December when her 16 month old daughter, Brielle, was diagnosed with spinal muscular atrophy (SMA) type II. Five days after hearing this devastating news, her husband Eric was deployed to Afghanistan with the Army. While they were apart, Eric and Sarah were forced into action to determine how best to care for Brielle and also to deal with the possibility that the new baby, Brooke, may also be affected by the disease. While Eric was deployed, Sarah tackled the heavy work of contacting doctors and therapists and creating a plan for Brielle’s treatment and on top of all that, decided to have Brooke tested. When Brooke also tested positive for SMA type II, she was enrolled in the “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” (or “STOP SMA”) study being conducted by Dr. Kathryn Swoboda at the University of Utah, with funding from FightSMA.

Brielle with Chad Knaus

The extended Kennedy Family became involved with the larger SMA community, participating in fundraisers and contacting their Congressional Representatives about the SMA Treatment Acceleration Act. Sarah’s sister in North Carolina, Christen, introduced her co-workers at Hendrick Motorsports to SMA. After meeting Brielle for the first time at a race in Michigan, (with Christen’s help), Chad Knaus, the crew chief for three-time NASCAR Sprint Cup Champion driver Jimmie Johnson, became interested in this little known disease and asked what he could do to help raise awareness.

Chad started by adding informational links about the disease to his personal website, but recently he has gone a step further. Chad will be sponsoring a hole at the upcoming Jimmie Johnson Foundation Annual Golf Tournament and has chosen to include the FightSMA logo on the sign posted at the sponsored hole. We thank Chad Knaus and the Jimmie Johnson Foundation for including FightSMA and for this wonderful opportunity to raise awareness of SMA.

The Temple News, a student publication of Temple University, profiled sophomore Jimmy Curran in the May 5th issue. The third of four children, Curran is the only child in his family who has type 2 spinal muscular atrophy (SMA) - a genetic neuromuscular disorder that affects motor neurons in the brain stem and spinal cord and disrupts the production of protein necessary to maintain muscle strength.

Despite being confined to a wheelchair and suffering muscle weakness, Curran hasn’t let the effects of the disease dramatically change his life. He is majoring in business at Temple University and plans to own his own business in the future. Just like any other college student, he enjoys hanging out with his friends and listening to music.

To read the entire article, click here.

Many families battling spinal muscular atrophy (SMA) could write volumes full of stories about their difficulties with insurance companies and their selective coverage. Thanksgiving day, the Washington Post ran a piece about a northern Virginia family who has a story to add to that tome.

Columnist Joe Davidson introduced the Rogers family. Shelby Rogers is eleven years old and has type 2 SMA. Davidson describes some of the equipment around her bedroom used to help her breathe, cough, and move. Shelby’s father, John, works for the federal government and the family is covered by Aetna insurance through his employer. Next year, Aetna is dropping coverage for the private nursing assistance that the family relies on to care for Shelby. While Shelby has Medicaid, it does not provide enough to pay for the nurses who dress and bathe Shelby, turn her as she sleeps, and exercise her weakening muscles.

To read the full article, click here.

Diagnosed with type 2 spinal muscular atrophy (SMA), Ofek Cohen is used to being limited by his physical condition. “I’m not able to do much on my own,” Ofek says. “I’m very weak. I can’t walk or write or pick things up. I need help doing everything.”

But he doesn’t let this stop him. At 16 years old, Ofek is a junior in high school, a member of the National Honor Society, and a chess champion. Although Ofek is unable to move the chess pieces himself and must rely on his opponent for help, he has won his county’s chess tournament for the second year in a row. Bill Wardle, the tournament sponsor, says “Ofek is good at analyzing the situation when he plays chess…He rarely makes a mistake.”

To read more about Ofek and his battle with SMA, click here.

There was a great article this week in the London Daily Telegraph, one of the largest newspapers in the UK, about Natasha Wood.  You may recall that Natasha was the first person interviewed on Fighting Back, the podcast produced by Fight SMA and FighterMom.  She has Spinal Muscular Atrophy Type 2, and is preparing to wrap up the tour of her one-woman autobiographical stage show with a performance at “Her Majesty’s Theater” in London.  The proceeds from the show will go to UK-based SMA charity Jennifer Trust.

Read the Telegraph article here.

Note: Natasha can be a bit bawdy, as the article tells us.  Some language in the article may not be suitable for everyone.

Publicity works. That’s the lesson from the story of an SMA family that was turned down for a power wheelchair by their insurance company.

Realizing their son would never walk, the parents of three-year-old Liam Russell, who has Spinal Muscular Atrophy Type II, filed a claim with their insurance company, Assurant, for a power chair. Assurant, however, refused to pay for even a portion of the chair, saying their policies don’t cover electric wheelchairs.

Liam’s parents did two things in response to this, showing they’re true “Fighter Parents” — first, they started a fundraising campaign for donations to buy the chair themselves. They also appeared on national television to tell their story. ABC’s Good Morning America did a story on the family’s predicament and their insurance company’s response.

Lo and behold, Assurant responded after the airing of the story that they were reviewing their policies regarding power chairs. Shortly thereafter, they announced that they would in fact provide coverage for power chairs for new policy holders.

The Russell family will not need Assurant’s help. Their fundraising efforts brought them enough money to purchase Liam’s chair. However, their publicity efforts will help future families in similar situations.

To see video from the GMA story (and Liam, who is adorable), please visit the ABC News video site.