8/19/2008 10:26:00 PM
Tournament to sponsor Tylor
11-year-old suffering from rare disorder; Event set Saturday in his honor
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| Tylor White-Richardson sits next to his mother, Jen, a 1997 Galena High School graduate. The Elks Slick and Easy Golf Tournament will sponsor Tylor. |
| | Diagnosis of Niemann-Pick Type C | Niemann-Pick Type C (NPC) is initially diagnosed by taking a small piece of skin ("skin biopsy"), growing the cells ("fibroblasts") in the laboratory, and studying their ability to transport and store cholesterol.
The transport of cholesterol in the cells is studied by measuring conversion of the cholesterol from one form to another ("esterification"). The storage of cholesterol is assessed by staining the cells with a compound ("filipin") that glows under ultraviolet light. It is important that both the transport and storage tests be performed, since reliance on one or the other may lead to an incorrect diagnosis.
Since 1997, over 200 genetic mutations related to NPC have been identified. The number of unique mutations precludes use of genetic testing as a general diagnostic tool. However, genetic testing can be performed to identify carriers in families where the mutation is known. The Mayo Clinic has conducted extensive DNA testing and counseling for patients and families with NPC.
Because NPC is rare and its symptoms quite variable, it is not widely recognized in the medical community. While education efforts by NNPDF have increased awareness of the disease, there are still instances of mis- and delayed-diagnosis. (Information taken from nnpdf.org)
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by Jay Dickerson
Tylor White-Richardson sits next to his mom. The skinny 11-year-old smiles, and fidgets a little bit. Tylor's dark hair is in a mohawk-cut like that because of the sensors doctors attached to his head. His mom, Jen Richardson, formerly Jen White, of Galena, explains that when he starts school again, she'll have to even the hair out.
Tylor wears a blue Cubs shirt, with the Cubs logo on the left side. As his mom talks about the Cubs/Astros game they went to only a few weeks ago, Tylor's hand slowly moves toward the logo on the shirt.
Tylor used to play baseball himself. But lately he's not steady. He's not the same Tylor he was.
Tylor has Niemann-Pick Type C (NPC), a rare disorder that's slowly taking his life.
"There's only 500 reported cases in the world," explains Jen. NPC patients cannot metabolize cholesterol and other lipids properly. Consequently, excessive amounts of cholesterol accumulate in Tylor's liver and spleen, and excessive amounts of other lipids accumulate in Tylor's brain. "There's no cure for it," Jen said.
Tylor's in the moderate stage of the disease. He has problems with upward and downward eye movement. He can be clumsy and has trouble walking.
He has problems swallowing. He has seizures.
His first seizure started, Jen said, when he was five or six. Jen took Tylor to a hospital in Davenport, which told her nothing was wrong. Not satisfied and still concerned for her son, Jen took Tylor to Iowa City. There doctors diagnosed epilepsy, and gave Tylor seizure medication.
As the years progressed, though, Jen realized something was still wrong. "He used to be a good ball player, but we started to see a decline in motor skills." There was also a change in his grades.
Jen and Tylor found themselves at Mayo Clinic, where, after the last year and a half and countless skin biopsies, the doctors diagnosed Niemann-Pick Type C.
"We have one of the best doctors in the world for diagnosing this disease," said Jen. "There are 265 different mutations. To find a mutation takes a while."
Doctors tested Tylor for 25-30 different genetic disorders. Jen researched each one mentioned by the doctors. It was heartbreaking. "This was the last one I researched before they told me to quit," she said.
Patients with Niemann-Pick types A and B are usually diagnosed as infants. They die at a young age. A patient with type C, like Tylor, could live to be 15 or 16.
Tylor turns 12 on Sept. 11.
"The last few weeks, it's progressed very, very rapidly. We've really seen a decline. . .It's been hard, seeing a decline so rapidly."
And while the doctors on Tylor's team are the best in the field, they aren't sure if this recent change is temporary. They can't tell if the disease's progression will level off.
There is no cure, but there is medication that could slow the disease's progression. It's called miglustate. It's still experimental. Some insurance companies won't pay for it. The potential cost per year for the drug: $100,000. Jen finds out in the next week or two exactly how much her insurance will cover for the drug.
Tylor's in physical therapy now. "Eventually he'll have to do respiratory therapy," said Jen. She estimated Tylor would need a feeding tube by the end of the year. He'll need a bath lift and a new bed.
"Really, we put it in God's hands and take it day by day," she said.
Jen works at Eagle Window and Door in Dubuque. She took about eight weeks off this summer, and has seen, every day, the disease progress.
"It's a daily struggle." She's had to reteach him to brush his teeth. Even a simple bath becomes difficult. "It's emotionally and physically draining."
Soon, Tylor will start at Hills & Dales, which helps children with special needs. And this weekend, Tylor will be sponsored by the Galena Elks Slick and Easy Golf Tournament. Mary Chapman, Galena, contacted Jen to set it up. "It brought me to tears. I was really touched, " said Jen. "It's amazing how many people want to help."
There is an account set up at First Community Bank of Galena in Tylor's name. You can also visit nnpdf.org for more information on Niemann-Pick Type C.
Jen said she'd bring Tylor out to the tournament for a little bit. And he sits next to her, he keeps smiling. And he holds his mother's hand.
"Don't take life for granted. Live each day like it's your last," Jen said. "It's hard to be told that your son has a fatal illness. We're doing as much as we can for him."
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Posted: Saturday, August 23, 2008
Article comment by:
Walter M. Johnson
I would like to send my respect to Jen Richardson on her son's life threating illness. I worked at Hills and Dales awhile back, Tylor will have the greatest care given to him, they treat every person with respect and dignity. I will keep you and tylor in my prayers, I understand that it is a hard time for you now. If,you need some one to talk to I will be there to listen.
Sincerly
Walter M. Johnson
(815) 776-0616
Democratic Candidate for Illinois State Rep. District 89
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