Diagnosis Late in Life (Kathy Rivera: type 2 CMT)

Article Highlights:
  • Kathy Rivera, of Tucson, Ariz, has type 2 Charcot-Marie-Tooth disease and two children.
  • Rivera didn't receive her diagnosis until her late 30s — after the birth of her second child.
by Margaret Wahl, Amy Labbe and Miriam Davidson on June 30, 2010 - 5:26pm

QUEST Vol. 17, No. 3

Kathy Rivera, 58
Tucson, Ariz.
type 2 Charcot-Marie-Tooth disease

Like many people with Charcot-Marie-Tooth (CMT), Kathy Rivera didn’t realize she had a neuromuscular disease until relatively late in life. Called “clumsy” as a child, she wore special shoes to keep her feet facing forward, but didn’t receive an official diagnosis of CMT until age 36.

Kathy Rivera, her husband, Tom, and their two children, in 1985

Rivera received almost no medical care growing up, which partially explains the late diagnosis. She moved a lot, spent time in foster care and was raised primarily by an uncle. Her symptoms were shrugged off as “growing pains.”

Rivera married and had her first child, a healthy girl, at age 27. For reasons probably unrelated to CMT, Rivera had high blood sugar during the pregnancy and, during the birth, her cervix (entrance to the uterus) didn’t open. “I tried to give birth the natural way and almost lost her,” Rivera recalled. “I had to have an emergency C-section [Caesarean], and she had to be resuscitated.”

During her second pregnancy at age 33, Rivera’s still-undiagnosed CMT noticeably worsened. Her legs were so sore when she woke up that she couldn’t get out of bed. “We put the bed next to the wall so I could climb up the wall to get to a standing position. I thought, ‘I’m not having any more kids.’”

As with her first pregnancy, Rivera had high blood sugar. Her son was born healthy via a planned C-section.

Rivera’s symptoms continued to worsen, and it was her daughter who convinced her to see a neurologist. “My 6-year-old said to me, ‘Mom, why don’t you pick up your feet?’”

Today, Rivera wears braces on both legs and no longer works. She loved her job as a bakery manager at Safeway, but her doctor advised her to quit. In recent years, Rivera has developed nerve compression requiring surgery in both wrists (likely related to CMT) and spinal cord inflammation (which may or may not be related to CMT).

Rivera believes her now-adult daughter may have CMT too, although she’s never been tested. Her daughter decided not to have children, but instead adopted a little girl. In an ironic twist, Rivera’s adopted grandchild has muscle problems and is being tested at the MDA clinic in Tucson for possible neuromuscular disease — receiving the care and attention that Rivera never did.

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