Source: Lake Geneva Regional News

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Battling a rare disease

by Lisa Seiser

March 01, 2012

Logan shown here with dad Aaron, Keira, mom Britney and Kayla.
GENOA CITY — Aaron Johnson sat comfortably in a recliner with his 16-month-old son Logan sleeping in his arms as he and wife, Britney, talked about the disease that has changed their family forever.

Logan has been diagnosed with Congenital Disorders of Glycosylation, known as CDG. Basically, Logan's body is unable to use sugars and attach them to proteins which has very important functions in the human body and is required for the normal growth and function of all tissues and organs.

He is smaller than a typical child his age, weighing 17 pounds and measuring 28 inches long. Logan coughs a lot, has jerky body movements, needs feeding through a tube and requires frequent trips to the hospital and doctor.

"No day is the same," Britney said about Logan's health. "Every day is like a guessing game."

But one thing is certain, Logan loves to smile.

"They really are happy kids," Aaron said about children with CDG. "They don't get aggravated. They are very patient and I don't know if that has something to do with brain development."

Britney said Logan enjoys dancing, playing and receiving attention.

One problem the Johnsons have is CDG, which was first diagnosed in the 1980s, is not receiving the attention they think it should.

There are only about 700 worldwide cases known of the type of CDG Logan is battling, and there is no known cure.

Wednesday, Feb. 29, was Rare Disease Day, a worldwide observance to educate people about rare diseases people deal with on a daily basis. Last week, as the Johnsons sat in their Genoa City home, they wanted people to know about rare diseases and the importance of trying to find cures.

"This group essentially is not getting the treatment and funding necessary," Aaron said as daughter Kayla sat on the arm of the chair next to him and Britney was on the couch with Keira. "We are just a small category. Anything we can do to help let people know these diseases are out there will help."

Aaron said the more well known diseases, such as cancer and diabetes, multiple sclerosis and cystic fibrosis, receive a significant amount of funding. He admits he understands those diseases affect more people than the one that afflicts his own son.

"Our hope is people recognize what CDG is and they get inspired as far as research into cures and treatments," Aaron said. "There is potential promising things out there as biomedical engineering."

During Logan's early months, nobody knew what was wrong with him.

Aaron and Britney knew something wasn't right, but no doctor was able to put all the pieces together. After a month-long stint at Children's Hospital in Milwaukee because of fluid in his heart, Logan was seen by 20 to 30 specialists. Aaron said between the age of three and six months, Logan endured numerous tests.

Still nobody could figure out what was wrong with Logan.

Finally, a geneticist who had attended a CDG lecture noticed traits heard during that discussion with traits Logan had demonstrated. A test confirmed the rare disease.

"Most of the doctors we deal with have never heard of CDG," Aaron said. "From what we have been told, Logan is the first and only case at Children's in Milwaukee. The fact that it was even diagnosed is pretty astounding. It just doesn't get talked about. It is not out there a lot. The researchers aren't looking at it for a cure because the numbers are so low, there isn't enough money to justify research."

Aaron said there is only one lab in all the United States even looking into CDG.

So, for now, Johnsons and others with CDG just have to deal with the disease as best they can.

Aaron said that involves a lot of reactive, rather than proactive, measures.

The Johnsons must feed Logan a few ounces of high fat food every three hours. That makes for long nights and a lot of attention. He also goes to physical therapy and sometimes the family can't do what they want to because Logan can get ill easily.

Britney said she sometimes feels as though her daughters, Kayla, 6, and Keira, 4, aren't receiving the attention they deserve.

"The girls are very patient and understanding," Britney said. "I always feel that 80 to 90 percent of our attention is on him. Then I feel like I could have done more for the girls. They love him and every time they see him, he smiles. If you separate them, he can tell they are not there. He is always looking for them."

Aaron and Britney both agree that there has been at least one positive.

"We are really cautious about who is around him," Aaron said. "Sometimes it keeps us from doing things. But I guess the plus side is we wanted to be closer as a family. We rely on each other more than we did before. We know we have to."

As for hopes for Logan, Britney said they are looking for small goals, including sitting up and pushing himself up from his stomach. The prognosis is unknown. The mortality rate in children like Logan is 20 percent in the first few years of life. Then, they tend to stabilize, but children and adults with CDG have varying degrees of disabilities.

Right now, the Johnsons just want Logan to have a future.

"Just like other parents, we expect him to do well," Aaron said. "We want him to do well. We want him to have as normal a life as possible. If it ends up falling short of that, we will just have to deal with that. There is very little we can do."