Posted on

‘Happy little boy’ faces several huge challenges

‘Happy little boy’ faces several huge challenges
‘Happy little boy’ faces several huge challenges
Jacob Bube

Two-year-old Jacob Bube is not like most toddlers. He can’t walk, much less run and play, hear or swallow. He can’t blink his eyes. He has Mitochondrial Myopathy ‘ a rare and fatal form of muscular dystrophy for which there is no cure or treatment.
(Mitochondria are round, long organells outside the nucleus in a cell; they generate energy which is necessary for physical strength, stamina and consciousness.)
Defects in mitochondrial function have been linked to Parkinson’s Disease, Alzheimer dementia, diabetes, heart disease and cancer. Some symptoms are so mild as to be hardly noticeable, whereas others, such as Jacob’s, are life-threatening. Each case is unique. For example, although it’s a rare disorder, many of its symptoms are common, such as heart problems, seizures and diabetes.
The disease affects the nervous system, eyes, heart, liver, kidneys, skeletal muscle and digestive tract. The symptoms are not the same for everyone.
Mitochondrial diseases are not contagious, and they are not the result of anything a person does.
Jacob’s mother, Sue Ann Bube of Indianapolis, said that before Jacob was born, there were no indications that anything was wrong. But after he was born, he had to be resuscitated; there was fluid on his lungs, and he needed oxygen.
The next day he had signs of palsy on one side of his face, and he couldn’t swallow. He could’t wake up, Sue Ann said. During the newborn screening, doctors discovered that Jacob was also deaf.
Seven months of testing at Riley Children’s Hospital in Indianapolis concluded that he had Mitochondrial Myopathy. Sue Ann said that it’s four times more likely for a child to have cancer.
‘At seven months, the doctors scraped muscle off the bone, and we didn’t get the results back for three months,’ she said. It takes that long for all the tests to be completed.
‘Jacob has the muscle structure of an 80-year-old person,’ said Sue Ann, ‘Most children don’t live to reach their teens.’ Only 40 other families in Indiana are coping with this disease, she said.
Last year Jacob had five surgeries with seven procedures. Children with this disease don’t handle anesthesia well, and it took six days for Jacob to come out of this one. ‘We thought we lost him then,’ his mother said.
Nevertheless, ‘He is a happy little boy,’ Sue Ann said. ‘We can communicate with him through sign language.’ Although he is deaf and can’t hold his head up, sit, crawl or walk, ‘he understands what we say, and makes expressions to let us know that he understands, and he can sign some words.’
Sue Ann, 35, a teacher, has learned to care for Jacob out of necessity. During all the surgeries and doctor visits, she said, the nurses and doctors trained her to care for Jacob, who is hooked to a breathing machine about 12 hours a day. He is fed through a tube.
The family does not qualify for home nursing assistance at this time. ‘Therefore, I’ve had to learn to care for him hands-on, out of necessity,’ she said.
She and Karl, 36, also have a healthy five-year old daughter, Ellie. Karl is a computer programmer.
The family has insurance through Karl’s employer, which has paid almost all the medical bills and covered the costs of equipment, said Sue Ann. ‘We are fortunate.’
There is about $35,000 worth of equipment in Jacob’s room alone, she said.
Jacob’s grandmother, Anita K. Bube of Elizabeth, is planning a fund-raiser dinner for Aug. 23. See story at left.
Mitochondrial diseases are maternally hereditary disorders caused by a defective gene, but Sue Ann has not been able to find a trace of it in any of her family history.
The disease usually affects children, but doctors are now identifying more and more adult cases. Scientists estimate that one in 4,000 children born in the United States will develop a Mitochondrial disease by age 10.
After finding out that Jacob had this disease, Sue Ann attended a medical seminar in Texas. That’s when she decided to start a support group; she founded the Indiana Support Group for Mitochondrial Diseases, the seventh in the country. There are now more than a dozen groups in the country.
For more information about this support group, call Sue Ann Bube at 1-317-894-9099.

LATEST NEWS