The Official Website of the Acid Maltase Deficiency Association

It is difficult to say what is impossible for the dreams of yesterday are the hopes of today and the reality of tomorrow. - Robert H. Goddard

Patty

Patty

A Mothers Anguish

April 6, 2002, was the saddest day of my life. Senselessly, while in the care of an inept medical system, my wonderful daughter passed away. Her name was Patty.

Everyone, especially the medical profession, should be aware of the potential for this to happen to any one of us, and to anyone’s daughter. There were many symptoms, yet none were detected or taken seriously by the professionals responsible for her care and recovery-in essence , those responsible for her life, that should have known better and known where to seek medical attention that was needed. Patty, and her family, especially her mother, have paid the price for their lack of interest and incompetence.

Patty was born a perfectly normal child, but as she grew older, she was rather thin. However, she appeared healthy and beautiful. As an adult, she married and had a child of her own. She was a very positive person, always looking on the bright side of everything. She had a strong faith in God, which prevailed during her illness.

Approximately six years ago, Patty began losing weight. It became noticeable to all of her family and friends. She experienced slight muscle aches and pains, but overall felt good. Patty never complained. As her overall health started to decline, she continued to loose weight slowly. She was very prompt concerning her yearly visits to the doctor. Each and every year, they found her overall health to be good, and never seemed concerned abut her weight loss.

It was about 1 1/2 years ago, that Patty noticed subtle changes, such as hearing loss, shaky hands, and a voice change. Once again, she contacted her primary care physician for help.

After an extensive delay, more tests were ordered. When everything came back negative, the physician ordered a muscle biopsy. By this time, Patty had lost considerable weight, and her motor movement was deteriorating until she could not perform the smallest task, such as climbing stairs. During this time, Patty continued to loose considerable weight. It took form the spring of 2001 until August 2001 before a tentative diagnosis was made.The conclusion was Polymyositis. Steroids were prescribed for weight gain. They did not help. During the entire time she was on steroids, her weight was not monitored by a physician. She continued to loose weight, not gain. By the fall of 2001, her symptoms began to worsen. She barely had the strength of a small child. Although the physicians were at a loss, Patty remained confident that all would be fine and that the doctors were doing everything they could.

Regardless of how everything appeared, she remained optimistic.

Patty was sent to a nutritionist in January 2002. This did not help. As a result of steroid therapy, she developed diabetes. Eventually, she was hospitalized and put on life support. She could no longer breathe and never again spoke another word.

In March 2002, the muscle tissue was finally, and I emphasize finally, sent to the Mayo Clinic in Minnesota and Columbia University in New York where it was tentatively determined that Patty was suffering from a rare form of muscular dystrophy, i.e., acid maltase deficiency, a genetic defect, passed from the defective gene of each parent, for which there was no cure.

Patty never regained her bodily functions and passed away on April 6, 2002 (at the age of 44). She was a brave woman who never lost the faith in the medical profession or in God.

The medical profession has yet to find a conclusive diagnosis, but the lesson is clear. Losing weight must be taken seriously. It can be life threatening and life ending. The medical profession must learn to recognize this, as we all must.

This has been written as a tribute to my lovely daughter, Patty (Patricia Lynn), with the hope that it may prevent this from happening to another mother’s daughter.

Nancy

In a recent letter, Nancy writes:

“This letter encompasses most of my feelings, however her loss in my life has been unreal. We were best friends and grew up together. She brought more joy than I can ever describe; however, I hope she is in a better place and bringing joy to others in another Life. I am in the process of having a Memory Garden landscape done in her memory in our yard. She was an Angel on this Earth and I am sure is one in Heaven.”

Other Patients

Disclaimer: The AMDA does not endorse any of the products, medications, treatments or information reported herein. The website and its contents is intended for informational purposes, only. We strongly advise that you discuss all medications, treatments, and/or products with your physician.

Address: AMDA PO Box 700248
San Antonio, Texas 78270 USA