Family struggles with daughter’s deadly disease


BY KATHRYN BASSETT
kathrynb@kpcnews.net


 

	Jennifer and Andy Perkins of rural Waterloo cradle their 15-month-old daughter, Hannah, who has a terminal muscular disease, spinal muscular atrophy. August is SMA Awareness month and the Perkinses want to educate the public about their daughter’s condition. Photo by Kathryn Bassett.

WATERLOO — Hannah Perkins is as bright as a bobbin.

Her smile is enough to light up even the darkest of days and her pretty blue eyes, framed with long curling lashes, twinkle.

“I love Hannah. She’s a ray of sunshine,” said the 15-month-old’s mom, Jennifer. “Her eyes say it all. She smiles and her whole face lights up.”

Like most 15-month-olds, Hannah has her favorite toys and books and loves to watch videos.

Unlike most 15-month-olds, Hannah’s very existence is dependent on medical equipment, therapy and medications.

She has spinal muscular atrophy (SMA), a muscular disease that is passed on genetically to children by their parents. Both parents must carry a copy of the recessive gene and there is a 25 percent chance in each pregnancy of the child having SMA.

Each year, up to 1,000 babies are born with SMA and today, an estimated 25,000 Americans suffer from the disease, according to the SMA Foundation.

Hannah has type 1 SMA.

“It’s the worst type. It’s terminal. Currently there’s no cure. We are just waiting on a cure to come,” said Jennifer Perkins.

August is SMA awareness month. Perkins and her husband, Andy, along with other parents of SMA children want to educate the public about the disease and offer hope to families affected by it.

Children with type 1 SMA are not able to hold up their heads, roll over, crawl, sit up without support, or walk. All of their muscles are extremely weak, especially muscles in the legs, upper arms and neck.

The disease affects all muscle systems, including sucking, swallowing, digesting food, excretion and breathing. The brain is not affected.

“The disease does not affect her intelligence,” said Jennifer Perkins. “It limits her physical abilities.”

Hannah was not diagnosed with the disease until she was 7 months old.

“I had Hannah at 35 weeks. We thought we were bringing home just a premature baby,” said Perkins.

“On December 28, she ended up in the hospital. She got a cold that developed into respiratory distress.”

After undergoing tests at the hospital, Hannah was diagnosed with SMA.

Remembering the time of Hannah’s hospitalization is especially painful for her mother. She had returned to the family’s home to take down the Christmas tree while Hannah was in the hospital.

Composing herself, Perkins said, “I remember coming in, seeing the Christmas tree and toys we’d bought and not had a chance to play with. There were still some dirty baby bottles in the sink.”

Perkins said doctors did not offer an optimistic outlook for Hannah.

“Basically, they said, ‘Love her while you have her,’” Perkins added.

The family was not given much hope. The Perkinses returned to their Waterloo home with Hannah, bewildered and afraid.

“I was terrified. I thought, ‘She has this muscular disease I know nothing about.’ I had no medical training. I’d been a typesetter for 15 years!” said Perkins.

Looking back, Perkins said she suspected something was not quite right with Hannah from an early stage.

“She had very low (muscle) tone and was floppy from the beginning,” she recalled.

Perkins turned to the Internet for information and advice on how to deal with Hannah’s disease. She joined a chat list for parents, families and caregivers of SMA patients.

“By doing that I found out we could manage this disease,” she said.

The Perkinses decided to follow a non-invasive protocol, using different equipment throughout the day to manage Hannah’s condition.

The Perkinses are responsible for Hannah’s care. Recently they began receiving nursing assistance for five hours each day.

Because Hannah is so weak, she cannot cough or manage her secretions, Perkins explained.

“We have a CoughAssist machine and use it three times a day, or more as needed, to do a cough session,” Perkins said.

At night time, Hannah receives ventilatory support from a BiPap (bi-level positive airway pressure) machine.

She also receives breathing treatments from a nebulizer and chest percussions to loosen her lungs and clear her airway.

Hannah’s temperature has to be monitored frequently.

Hannah cannot take food by mouth, so she is on a continuous feed through a tube inserted in her nose. The Perkinses’ goal is to get Hannah to a hospital in New Jersey to be fitted with a gastric tube in her abdomen.

“We just need to get on the surgery schedule. It will make a big difference,” said Perkins. “She can only receive so much (nutrition) through the nose. We’ll be able to get more nutrition in her and she’ll be able to pick up some weight.”

Perkins is adamant that she and her family do not want pity.

“I want to promote awareness. My concern is that somebody might end up in our shoes, I don’t want them to give up. It (SMA) can be managed. Hannah is living proof,” said Perkins.

“This disease is rare. That’s why we need to promote awareness. We need more money for research.”

Perkins does not begrudge any of the work involved in taking care of Hannah.

“We’re blessed to have her. She is a joy. She has her own little things to offer,” said Perkins. “With all the work that we do, it’s worth it.”

For more information on SMA, visit the SMA Web site at http://www.smasupport.com.