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Rare, fatal disease afflicts Kiski 4-year-old

Jason Bridge | Valley News Dispatch
Brittany Sinnamond holds her 4-year-old daughter, Addi, at their home in Kiski Township on Wednesday, Jan. 23, 2013. Addi, who suffers from metachromatic leukodystrophy, has lost her ability walk and speak, can't swallow anything, can't sit up or support herself, and is losing her eyesight. But she still smiles at sounds, family members' voices and Justin Beiber songs.

About Metachromatic leukodystrophy (MLD)

What is MLD?

Metachromatic leukodystrophy, or MLD, is a genetic disorder that affects the nerves, muscles, other organs and behavior.

What causes it?

MLD is caused by the lack of a certain enzyme. Without it, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder and other organs. The protective sheath around nerve cells, the myelin sheath, is damaged.

What does it do?

Without an intact myelin sheath, there is a breakdown in communication between the nerves and the brain. This leads to the loss of acquired functions, paralysis, blindness, seizures and eventual death.

What happens to a person with MLD?

MLD is a severe disease that gets worse over time. Eventually, people lose all muscle and mental function. The disease usually runs three to 20 years. The earlier the age at onset, the more quickly it progresses.

How does someone get MLD?

The disease is passed down through families. A person with MLD gets a copy of the defective gene from both parents. Parents who have the defective gene and don't have MLD are carriers. Children who inherit one defective gene from one parent will be a carrier but usually will not develop MLD. When two carriers have a child, there is a 25 percent chance that the child will get both genes and have MLD.

How common is it?

About 1 in 100 people are believed to be carriers. MLD occurs in about 1 in 40,000 births. Genetic counseling is recommended for those with a family history of the disorder.

Is there a cure?

There is no cure for MLD. Care focuses on treating the symptoms and preserving the patient's quality of life with therapy. The only treatment is bone marrow transplant or stem cell therapy, which can slow the disease in those not showing symptoms. Researchers are studying ways to replace the missing enzyme.

Where can I learn more?

Visit the MLD Foundation at www.mldfoundation.org.

Source: U.S. National Library of Medicine; MLD Foundation.

How to help

To support the effort to get a chance for Addi to meet Justin Bieber and Miley Cyrus, look for the community “Help Addi's Dreams Come True” on Facebook at www.facebook.com/HelpAddison.

Tuesday, Jan. 29, 2013, 12:06 a.m.
 

As she sleeps, Addison Sinnamond looks like many 4-year-old girls. Sweet. Precious. Perfect.

But a rare, terminal genetic disorder has robbed her of the ability to walk and talk. Addison can't sit up or support herself. She can't swallow anything, not even her own saliva. She's fed through a tube in her abdomen.

She's losing her eyesight.

But Addison can still hear.

And when she hears music by Justin Bieber — in particular his hit song “Baby” — she smiles.

Family and friends of the girl they call “Addi” have launched an online campaign called “Help Addi's Dreams Come True.” They're trying to arrange a chance for Addi to meet Bieber or her other favorite singer, Miley Cyrus, aka Hannah Montana.

While Addi's mom, Brittany Sinnamond, 22, would like for her daughter to meet the entertainers, she also wants to raise awareness of the disease — metachromatic leukodystrophy, or MLD — that is killing her little girl.

“We see a lot of doctors who have no idea what it is,” Sinnamond said. “When she goes into the emergency room, I have to explain it.”

Sinnamond, Addi and Addi's sister, Natalie, 2, are living with Sinnamond's boyfriend, Brandon Shirley, at the home of his parents, Rick and Jamey Shirley, in Kiski Township. Brittany and Brandon plan to move with the girls into a rented home in Vandergrift in February.

Addi is one of about 200 people in the United States living with MLD, according to Dean Suhr, president and co-founder of the MLD Foundation, outside of Portland, Ore.

Suhr and his wife, Teryn, started the foundation in 1999. Two of their three daughters developed MLD; one died in 1995 at 10.

MLD can strike infants, juveniles and adults, but it progresses faster and more severely in its youngest victims, Suhr said.

Natalie doesn't have MLD, but is a carrier. When both of a child's parents are carriers, there's a one-in-four chance of developing MLD, according to Suhr.

Sinnamond stays home full time with Addi, who also has a nurse with her five days a week for 10 hours a day.

Addi was developing normally before she was diagnosed with MLD when she was 2, after getting the flu and suffering a seizure. A scan of her brain found the cause.

Grim prognosis

Addi's prognosis is not good, said Dr. Maria Escolar, director of the Program for the Study of Neurodevelopment in Rare Disorders at Children's Hospital in Pittsburgh. Addi is one of the patients Escolar is following.

“She will die,” Escolar said.

How long Addi lives depends largely on how well Addi's family and her caregivers control the complications and infections she suffers. She takes medicine to prevent seizures, and antibiotics to prevent pneumonia and infections.

A lot of her care is about managing pain and keeping Addi comfortable.

It means a lot of work for her mother, Escolar said.

For instance, Addi can suffer from pain because she doesn't move while she sleeps. Her mom has to move her every couple of hours, Escolar said.

“It is definitely something I had to get used to,” Sinnamond said. “It does require a lot of doctor visits. It took a lot of getting used to with feeding schedules and medicines.”

As the condition worsens, children like Addi are alert, but are not able to express themselves, Suhr said. Without muscle control, all they can manage are simple smiles, noises and eye blinking.

“We know there's still life inside the body; the body is just not in good shape,” Suhr said.

Addi is getting to a point where she can't interact much anymore, Escolar said.

Jamey Shirley said Addi is more or less like an infant. She said they think Addi just sees shadows now and figures out who people are by their voice. Hearing is one of the last things to be affected, according to Escolar.

Bieber song makes her smile

Addi used to sing and dance to Bieber's song, “Baby.”

So infatuated, she once ripped a poster of him in half trying to kiss it, her mother said.

“The smile she gets on her face when you say their name or play a Justin Bieber song or a Hannah Montana show is perfect,” said Courtney Shirley, of Kiski Township, Brandon's sister, who recently started the effort on Facebook. It had about 425 “likes” on Monday.

“Hopefully, before she loses her sight she can see him,” Jamey Shirley said.

Publicists for Bieber and Cyrus did not respond to requests for comment.

Research and clinical trials for therapies for MLD are under way and showing promise, but won't be able to help Addi, Suhr said.

Suhr said his foundation works with Make-A-Wish and encourages families of children with MLD to get in contact with organizations like it and “live as much life as quickly as they can with these kids.”

“We always encourage the families to live it up,” he said. “Live a lifetime in months and years.”

Addi took a Make-A-Wish trip to Disney World in Florida last year.

“I wanted her to experience that,” Sinnamond said.

Brian C. Rittmeyer is a staff writer for Trib Total Media. He can be reached at 724-226-4701 or brittmeyer@tribweb.com.

 

 
 


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