Make A Child Smile

Kady's Story
written by mom Kristi

I had a normal pregnancy carrying Kady, except that she was two weeks early. There were no signs of illness at birth except her head circumference was larger than normal. This continued throughout her 2 months, 4 months, 6 months visits to the doctor. Doctors thought that she might have Hydrocephalus (water on the brain). Many CT scans and tests were done on her; however all that was found were pockets on her brain (without fluid). They had never seen that before and could not explain it. Kady was a good baby but was sick A LOT and NEVER cried! She couldn't keep anything down and would just lie around and make odd noises. She was refused care by day care providers and my mother quit her job to care for her. I called the doctor several times to let him know that she didn't cry and his response was: "You're complaining about having a good baby"? Well... my son was also a good baby; however, he cried when he needed something.

After many tests and many months of illness later, my husband went to get Kady out of her crib. She was now a year old. What he found when he got to her crib was horrifying! He brought her to me and she was cold, limp, and blue. I called the ambulance and they said that their was nothing they could do because she was too far gone! I went ballistic! This was my baby! I asked them to call life-flight and they did. She was taken to Children's Mercy. Parents are not allowed to ride with their children, so my husband and I drove there. When we arrived, we were not told anything. Instead, we were taken to separate rooms and questioned for child abuse! It was crazy! We found out that baby Tylenol had showed up as a major drug in her system and they thought she had been poisoned. They even questioned our son (then 5 years old). We now know that she cannot digest sugar and the Tylenol showed up as a major amount in her bloodstream. Well, once they figured out that we weren't child abusers, we were able to see Kady. When she was in the helicopter, someone thought to check her blood sugar. It was 12; however, she was not diabetic. So, the 12 explained why she was lethargic. She was hypoglycemic!

They kept her for two weeks doing studies and tests and still could not figure out why she was not keeping formula down and then would become lethargic and hypoglycemic. They were just going to send us home without a diagnosis, but I threw a fit! I was not about to take a chance of losing my baby! So... they decided to do some genetic screening and everything came back negative. They then did a skin biopsy and sent her skin cells to Mayo Clinic for further evaluation. They found out that she has a rare genetic disorder. Apparently, my husband and I carry a recessive gene for Glutaric Acidemia. It typically runs in girls; however, our son was tested also and he is a carrier.

Glutaric Acidemia is an inherited disorder. People with Glutaric Acidemia have enzymes that do not work properly. They do not break down fats and proteins to produce energy. Because of this, toxic substances build up in body tissue and cause illness. Symptoms include severe episodes of nausea, vomiting, and weakness that leads to hypoglycemia and much of the time requires hospitalization. Treatment includes a high carbohydrate, low-fat, low-protein, no sugar diet with supplements of carnitine and riboflavin.

Glutaric Acidemia will never go away. The low protein and fat, high-carbohydrate, no sugar diet must be continued throughout life and be closely followed by health care professionals and nutritionists.

Most children with this disorder are developmentally, physically, and neurologically delayed.

As for Kady's health, she has done better with age. Like I stated previously, she was very ill as a baby. She is developmentally delayed; therefore, she was late at doing many things and she has severe muscle weakness. She has had eye surgery and had glasses and may require more surgeries with age due to the muscle weakness.

Kady has been in the hospital over 70 times due to the effects of Glutaric Acidemia such as severe hypoglycemia.

She is SO good with her disorder and rarely feels sorry for herself. She has seen many other children without hair, etc., so she considers herself fortunate. She has donated three feet of her hair to "Locks of Love" (an organization that makes wigs for children who have lost their hair due to various illnesses.)

She is developmentally delayed due to muscle weakness, however, doctors said that she would also have a learning disability and she doesn't! She loves to read, write, and do crafts and play with her brother, Trevor.

Kids do make fun of Kady because she is slow and falls a lot; however, she just looks at them and smiles her big smile. She has such a big heart and a love for life! She is my hero!