Thursday, January 15, 2015

Maria José

(Contributed by Dr Moris Angulo, USA, whose help, support, and compassion for families where there is a child with PWS, has not gone unnoticed.  Dr Angulo is a member of the Clinical Advisory Board of PWSA USA, a member of the Clinical & Scientific Advisory Board of IPWSO, was made '2001 Distinguished Doctor of El Salvador' by the Legislative Assembly and is recognised as a leading practitioner for patients with Prader-Willi syndrome.)

In June 11th 2000, Maria José, a beautiful infant was born to Josefina and Beto, a young Mexican couple from Pachuca, Mexico.

Maria José was born with most symptoms and signs of Prader-Willi syndrome (PWS) and enrolled in an early intervention program; her diagnosis however, was confirmed by lab testing until age 2 years. She never vomited but had several episodes (#5) of abdominal distention. Her mother learned how to measure Maria José abdomen’s circumference, thus she knew when to alarm and seek medical attention to the pediatric emergency room at the nearest hospital. Each time she had these abdominal distention, she received medical management with nasogastric tube to decompress her abdomen and occasionally she needed hospital admission.

During her 5th episode, she complained of mild abdominal pain without any vomiting or fever. Her mother noticed she was getting progressively worse and took her to the emergency room without any response to common procedures. Five hours after onset of clinical symptoms, she underwent surgical intervention for questionable gastro-intestinal perforation. Her surgery was successful according to Maria José’s mother, unfortunately 2 hours later, she developed severe peritonitis that did not respond to broad-spectrum antibiotics and took her place in heaven at age 9 years 2 months.

Maria José was their only child and, her parents aware of lack of knowledge of PWS in the community, organized with their own effort and personal expenses the first “PWS Conference” for families, nutritionists, physical therapists, pediatricians and other health care professionals on March 2005, before their daughter’s fifth birthday.  Maria José was the only child known to have this genetic condition in her town of Pachuca. 

Along with other speakers, I had the opportunity to participate in this interesting small meeting in which the audience included more health caregivers than families. Children of 6 participating families had clinical, but not confirmed diagnosis, of PWS and they were from different towns or states in Mexico.  From March 2005 till present time, Josefina and Beto have organized 4 events with increasing number of health care professionals and families.  Last conference was held in Pachuca, October 9-11, 2014. This meeting was a real success not only with larger audience that included 130 health care professionals and 88 families but participation of local government authorities. For the first time Maria José’s parents received a partial aid from local governmental office to house PWS families from out-of-state state.  My meeting this time was not only with parents and other professionals but two members of the government who kindly listening to parents’ concerns and agree to apply at higher government level to help to “Increase the awareness of PWS at national level”.

Josefina and Beto believe indeed that their little angel is watching them from heaven and by helping other families with PWS, she will be even happier!


 Moris Angulo, MD   
                       

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