Rare disease saps woman’s energy
It's the prayers that help Debbie Goff make it through a day.
"I just pray that God gives me the strength every morning when I get up to do what I need to do and what he wants me to do," Goff said. "And then at the end of the day, whether I'm hurting or not, I thank Him for getting me through that day."
Goff, who lives near Springdale in the northwest corner of Leavenworth County, suffers from a rare genetic condition known as mitochondrial disease.
Goff, and about 500 others who suffer from the disease or who want to help raise money for research, will be walking in the 5K run and one-mile "Mito What? Walk" on June 26 in Overland Park. The event will start at 8 a.m. at the Corporate Woods complex.
Affects all ages
Technically, Goff's form of the disease is known as Carnitine Palmitoyl Transferase Deficiency Type II. This is a disorder in which the body can not oxidize fatty acids.
In non-medical terms, CPT II can be compared to a house that's only getting half the electricity it needs to operate. When people suffer from mitochondrial diseases, their cells do not generate enough energy for all of their organs to operate as they should.
The disease, which can affect multiple organs at a time, racks Goff's body with pain. When it's at its worst, her muscles painfully cramp. She describes the sensation as aching, burning, squeezing and feeling as if she's being pinched.
Prior to being able to put a name to her disease, she didn't understand her odd assortment of symptoms.
"I thought maybe I'm just getting old, but then I thought well I'm not that old," the 47-year-old said.
The pain was constant -- and flareups were unpredictable.
"My toes up to my knees would go to sleep, at work, at home, driving home from work," Goff said. "They would throb because they would hurt so bad. My arms started doing the same thing, and then my hands."
In a severe CPTII crisis, patient will have blood in the urine, which Goff said is muscle tissue that has broken down and been removed from the body by the kidneys.
Fortunately for Goff, her condition has never deteriorated to that point. That's partly because she does not have a full-blown case of CPT II. At this time, she is known as a symptomatic carrier -- she suffers from some, but not all of the symptoms of the disease.
For a person to have CPT II, they must have two parents who are recessive carriers or a carrier.
This concerns Goff. She and her husband, Carl Goff, have six children. Four are her biological children.
She would like for them, as well as her six biological grandchildren, to be tested for CPT II.
Mitochondrial diseases hit children, as well as adults.
Heidi Harmon, who works with the Kansas City chapter of the Mitochondrial Disease Foundation, learned about the disease six years ago when her 8-year-old son, Bailey, was diagnosed. His form of the disease is progressive and life threatening.
"So we really don't know how long we will have him, but at this time he's not able to walk or talk and he battles uncontrolled seizures," Heidi said. "Basically, it's a lack of energy produced to the organs that need it in his body."
Heidi and her husband, Jason, who live in Lee's Summit, Mo., know they must be appreciative of every day they have with their son.
"About a month ago we had to have hospice come in because we thought that we were losing him," Heidi said.
Bailey, and about 30 other children who suffer from the disease will participate in the June walk/run. He's going to ride in his wheelchair, and classmates from the public school he attends have asked to take turns pushing him.
Solving the mystery
In its worse case, mitochondrial diseases, including CPT II which Debbie Goff has, are totally debilitating diseases. After being diagnosed two years ago, Goff met an area woman who has the full disease. The woman has since become so weak that now, after doing almost anything -- even something as easy as talking to a friend on the phone -- she has to take a two-hour nap, Goff said.
As she looks back, Goff said, it's possible her own symptoms began years ago, but she didn't recognize them.
"I think there were things in my late 20s and early 30s that were going on that were probably signs," Goff said.
Finally being able to pin a name to her symptoms was a landmark for Goff.
She had been to doctor after doctor, with none of them finding the root of her problem.
"At one point, my family doctor thought I was just depressed," Goff said. "I thought -- no -- I'm not taking any tranquilizers."
She convinced him to send her to a specialist who put her through a battery of tests.
"Everything came back negative, but yet I had no endurance and my strength was withering," Goff said.
Eventually, she made an appointment with a rheumatologist.
"He had had a patient who about 20 years ago had had the same symptoms," Goff said.
One test he prescribed, one which had not yet been done, was a muscle biopsy. The results of this procedure showed that Goff suffered from CPT II deficiency.
Once diagnosed, her doctor told her to begin taking carnatine supplements, vitamin B2, multivitamins and vitamin C.
That was two years ago, and the treatment has helped.
"Since that time, I've regained some endurance and some muscle tone and strength," Goff said.
Staying on track
Goff smiles as she talks. Her eyes sparkle. Despite her symptom, or perhaps because of it, she knows how important it is to appreciate every day, but especially the days in which she feels good.
A registered nurse, Goff works for a nursing agency that sends her to hospitals throughout the Kansas City area. She works from three to five days a week, usually 12-hour shifts.
In order to keep up the demands of her work, Goff takes her medications, and sticks to her recommended diet.
"Diet is a big thing," Goff said. "When you have CPT II deficiency, you're on a high carb diet, low protein and watch fats of course."
She is a Seventh Day Adventist, which means she was already more aware of the importance of eating the right foods. The SDA church recommends that church members follow a vegetarian diet. It also suggests avoiding fried foods, and limiting margarine, oil and salad dressing.
"Because of my beliefs and because of my needs for my diet, I can kind of balance the two," Goff said. "I do eat meat, but not a lot. ... When I eat more vegetables, fruits and grains I feel better."
A drawback for Debbie is that when she follows a high carbohydrate/low protein diet, she tends to gain weight.
But with a characteristic twinkle in her eyes, Goff admitted that when it comes to dieting, although she has good intentions, once in a while she strays.
She explained with a sheepish grin: "Yesterday I had my M&M's."