About Jenny: Dianne’s Story

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  was born with a herniated umbilical cord and she was jaundiced. The doctor that delivered her told me that she seemed about 2 weeks premature.

I have 5 younger brothers and had pretty much raised my youngest brother when I was 15 years of age; my mother wasn’t well. Because of those past experiences, I constantly felt that something was different in Jenny’s alertness, co-ordination, physical “fortitude” and, in general, lack of enthusiasm. I assumed it was because she was a delicate little girl.

Jenny had many colds/ear infections and was hospitalized with pneumonia at 6 months. These colds/ear infection continued until she was 3 and a half years old. The pediatrician recommended tubes in her ears and removing her large adenoids (they were the size of a 12 year olds, he said). There had been some hearing loss, but not enough to warrant hearing aids. So when she started school, she was in speech therapy and when she had trouble staying “on task” and staying with the class academically, it was assumed that the hearing loss was responsible.

When Jenny was 12 years old, we had been vacationing at a resort and Jenny was on an inner-tube belly-down behind our boat. The boat hit a big wave and she was flipped off the inner-tube. She was dazed when we got her into the boat and later wouldn’t eat supper, just wanted to go to bed…but didn’t complain about any discomfort. The next morning we packed up and drove the 150 miles home. When we got home, she couldn’t feel the lower half of her body and she couldn’t walk. We took her to the Emergency Room and after MANY TESTS, they informed us that she had an allergic reaction to the sun. She didn’t walk and ran an extremely high fever for 10 days.

Finally, just in time to start 6th Grade at school, she started to walk and got back to a more normal routine of home and school life. Looking back, I realize that from this time on, she actually slowed down alot and physically/academically, she struggled.

Then when Jenny was about 14 years old , she complained about pain in her right leg. We saw orthopedic surgeons continuously, we even switched doctors and finally the pain in her right leg stopped. In fact the doctor could poke it with a pin and she didn’t feel it in many spots. Within another year, her left leg began experiencing the same pain (around the knee). We saw doctors concerning this till Jenny was 18 years old and finally, they took a certain x-ray that showed she had a broken back (spondylolisis and spondylolisthesis) at L4, I believe. An MRI of her back was taken and that showed 2 dermoid cysts on her right ovary. She had surgery in Sept. 95 to remove them. Then in Oct. 95 she had a posterior fusion of her spinal cord at L4 – L5. After 10 months, the doctor felt that the screws were already loose and she had the posterior fusion re-done and an anterior fusion done (almost 12 hours of surgery) in Sept. 96.

Now we felt that the injury to her spine was the cause of her sleeping so much, her poor co-ordination and decline in school grades. We thought we had everything solved and, in time, she would be “as good as new”.

In May of 98 we saw the doctor that had done the spine surgeries and after confirming that everything looked good, he asked me if I felt that Jenny’s speech was deteriorating and I did, but thought it was because she had been home alone so much in the past 3 years recovering from these major surgeries. He felt that there might be a neurological reason, Dr. Ensor Transfeldt is a wise man! This led us to Dr. Chester Whitley, a Geneticist at the U of M. He diagnosed Jenny with alpha-mannosidosis type 2 on Oct. 13, 1998.

Jenny’s quality of life is clearly deteriorating. I believe that the spinal cord injury gave the disease a stronger hold of her. Looking back, I feel that the disease plateaus and then takes big jumps approximately every 3 years (big difference from 15 years of age to 18 years of age, and again at 21 years of age (I hope I’m stating this clearly.) At this point it has picked up momentum, it is deteriorating her physical and mental health at a faster pace than it did when she was 12 years old, for instance.

My husband, Steve and I are both Computer Programmers and neither of us has any knowledge of genetic disease in our families. We live in Minneapolis, Steve’s parents are deceased and mine live in Manitoba, Canada. We’ve had our son tested to see if he is a carrier and thankfully, he isn’t; his mannosidase level is 206 (mine is 90 and Steve’s is 130).

Jenny is 22 years old, she’s still working 2 – 4 hour shifts a week at a shoe store. She took a college class this past fall, but didn’t finish once she got the news of her disease. Our son, Jason, is 21 years old and since they’re so close in age, he always looked out for Jenny. She went to regular schools and by 8th grade she took some modified classes (History, English and Math). Jenny graduated from high school in June ’94.

Dianne Smith

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