Cadence's Story

Life with PA begins

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Life with PA begins

Treatment and diagnosis

Dr. Hummel narrowed down Cady's condition to three diseases, all very similar in presentation:  Propionic Acidemia, Methylmalonic Acidemia and Holocarboxylase Synthetase Deficiency.  All three conditions were treated at the same time until a difinitive diagnosis could be obtained through skin biopsy.  The biopsy sample was taken from Cady's left forearm (to this day we refer to the scar as the 'Hummelpox') and grown for testing.  In the mean time, Cady flourished.  She woke up.  We were able to feed her  a little. She gained weight.  She screamed her head off when we bathed her (music to a mother's ears!)  After 32 days at WVUCH, we were able to take Cady home, still treating her for all three diseases, still waiting for a diagnosis.  Six weeks later, we got it:  Propionic Acidemia.


Cady with The WVU Mountaineer and other members of various WVU teams.

In the beginning there were trips to Morgantown every two weeks for check ups and hospital admissions about every two months.  The check ups tapered down to every six months and then every year.  When Cady was about 2, the admissions tapered down to about 2 a year.  She had a bad year the year she began Kindergarten.  It was a huge shock to her system, going to school all day, five days a week, getting up at 5:30 am to catch the bus for an hour long ride, not getting home until almost 4 p.m. after another hour long ride.  She decompensated in October, again over Christmas and finally in February she got pneumonia and had a 7 day stay.  She came home for about a week after that episode, and then contracted pancreatitis.  That earned her another 7-10 day stay.  One good thing that happened with these two February stays was that they didn't trigger her PA, she weathered these two conditions as if she were a normal child.  These were also, to date, the last time she's been admitted to the hospital.  That was February 2003.

Cady's diet

Cady's diet is one of my own concoction.  Her first feeding every day is a fruit feeding and meat is the protein.  She can have 3g of protein per kg of body weight per day.  I mix up a can of peaches or pears, 1/2 jar of baby food meat, some vitamin C, some Iron, some Polyvifluoride, some papaya and some L-Carnitine, and kool-aid.  This makes two days worth of breakfast.  Her 2nd and 4th feedings per day are made of Propimex-2, cheerios, papaya, canola oil, multivitamins, vitamin E and fish oil.  This is mixed in frozen concentrated orange juice reconstituted with Eater's Digest tea instead of water.  Her 3rd feeding each day is made of a can of beets, green beans or carrots.  I add 4T of yogurt, some stool softener, papaya tabs and L-Carnitine.  This too is mixed in a base of kool-aid.  Cady is g-tube fed four times a day, each feeding four hours apart.

Cady takes iron because she is anemic.  The iron is mixed in the fruit feeding with the vitamin C because iron is best absorbed where vitamin C and a meat substance is present.  She takes polyvifluorde because the city water where we live doesn't have enough fluoride in it.  She takes L-Carnitine because the propionyl co-a carboxylase enzyme she is deficient in does not make enough for her to carry away the toxins caused by protein metabolism.  There is papaya in every feeding because Cady is plagued with nausea and vomiting on a routine basis.  She even had a Nissenfundoplication done at 17 months with her g-tube placement to try to curtail the vomiting.  Yogurt is used as the protein in her evening feedings to try to control the yeast infections she is susceptible to because of the increased pH of her urine/sweat.  Stool softeners prevent constipation that ultimately would drive up her ammonia level.
Every night before she goes to bed, Cady takes 10mg of Biotin, which helps the PCC enzyme work better.