Jose

Propionic Acidemia

José Pablo has just seven years old. He was born at the 15 of May of 1996, after a normal pregnancy and childbirth.  Also his period of breast-feeding was normal. The problems appeared as it incorporated solid foods. To the nine months, as a result of a urinary infection, he present the first metabolic acidosis (with its components of hypotonia, lethargy, hyperventilation, etc.). It was compensated, step one week in intensive cares and came out of the hospital without a precise diagnosis.  He repeated this situation when he was 18 months old. (December ’97)  That time with the medical conclusion that he had Propionic Acidemia, fortunately without brain damage.
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Then we began with the low protein diet and the aggregate of carnitine, formula, biotin, vitamins and all the periodic controls into a Children Hospital of our city.

Knowing what it has been to happen, is a great happiness to us to see our son play with his brothers and friends, to go to the school, to walk in bicycle, to kick the ball, to watch its favourite TV cartoons and to sing his favourites songs.  At this moment its weight is of 19,200 kg and his stature is 115, 4 cm. 

In spite of our constant effort, it’s not easy to follow his diet – all of you know as it happens in these cases- less does not show a great interest by natural foods and by formula, although it is fed totally by mouth. At the same time, this is a very special experience for us and all the family. José Pablo continues to be in latent risk of all chronic disease and they wait for additional difficulties to him to the life of any child that we will have to be knowing and facing between all.  He has two brothers, both without acidemias:  Regina (9) and Guido (4).  The little has a newborn screening without they appeared vestiges of the disease.

José Pablo suffered a new decompensation at the beginning of 2002, with metabolic acidosis and renal insufficiency, because of a virus  and the doctors said of which he recovered after 15 days in an ICU.  Today his condition is good, without frights. Although this is a rare disease, there are very good laboratories and specialist doctors in Buenos Aires, formed some of them in the United States, reason why the treatment is basic the same one that in others countries. We confronted the high monthly cost with the special aid of the social insurance that covers the half of formula, although not of the carnitine, dextrose nor foods like low-pro pastes.

José Pablo feeding includes: Breakfast with special milk, Propimix-2 with an aggregate of dextrose, vegetal, fruits, allowed rice, some cookies, and low protein paste.  He takes 10 ml.  daily of carnitine.

The contact with the OAA listserv has helped us too much, from those who we received permanent and very useful information through the Internet, which shortens the distances and alleviates the anguish which it happen sometimes because diseases like these.  We share the spirit and the feeling of each one of the messages (face like everyone the indifference of some people, even of relatives and some doctors); we have received direct answers to all our restlessness and hoped like all the advance of the investigations towards one definitive solution for our kids. Waiting for better days for all, we sent ours regards from Argentina and had left to disposition for which we pruned to help.

Carlos and Analía
Parents of José Pablo (PA, 7)
Regina (9) and Guido (4)
Buenos Aires – ARGENTINA

From the June 2003 OAA Newsletter