The story of Jaqueline 🇧🇷
I HAVE A GENETIC, RARE, PROGRESSIVE AND DEGENERATIVE DISEASE
DR.ROBERTO HIRSCH, NEUROLOGIST AT HOSPITAL ISRAELITA ALBERT EINSTEIN, BRAZIL 
HE WAS THE ONE WHO GAVE ME THE DIAGNOSIS MTDPS4B WITH ATAXIAS OR MNGIE RELATED POLG GENE WITH ATAXIAS, AFTER THE GENETICIST CLAIMED IT TO BE A MITOCHONDRIAL DISEASE.
ON THE DAYS OF BORN, I NEEDED TO BE HOSPITALIZED. AT THE TIME THEY THOUGHT I WOULD HAVE AN ALLERGY TO MILK OR LACTOSE. BUT IN CURRENT EXAMS, I DON’T HAVE IT. I ABSTRACT BECAUSE I FEEL BETTER WITH VEGAN AND GLUTE-FREE FOOD
SINCE I WAS A BABY WITH STRONG RESPIRATORY CRISES, DIFFICULT CONTROL ASTHMA, ABSENCES, ETC
AT THE AGE OF FOUR TO FIVE, DURING ONE OF THE MANY ASTHMA CRISIS, AN ANAPHYLATIC SHOCK DUE TO ADRENALINE, LEADING ME TO BE UNSURE OF THE DOCTORS AND MY FAMILY WHETHER I WOULD OPEN MY EYES OR GET ANSWERS AGAIN…
BUT I OPENED MY EYES AND WAS COMING BACK. IT WAS A PARTY AT THE HOSPITAL… AND HERE WE ARE, ALWAYS FIGHTING FOR LIFE AND IMPROVEMENTS, WHILE THE CURE DOESN’T ARRIVE, WE DON’T STOP SEARCHING FOR THE CURE WE HAVE DREAMED FOR.
MY DIAGNOSIS WAS AFTER FORTY YEARS AND SCIENCE WAS MORE PREPARED FOR A MITOCHONDRIAL DISEASE WITH ATAXIAS.
I HAD A BASIC LUNG ABCESS ON THE RIGHT SIDE, MANY ALLERGIES, WHICH WERE PROBABLY FROM MAST CELL ACTIVATION SYNDROME, TODAY WE KNOW THAT I HAVE IT. I AM TAKEN CARE OF BY DR. ROBERTO HIRSCH AND TEAM. I ALSO HAVE JOINT HYPERMOBILITY SPECTRUM DISORDER, A ZEBRA TO MY DOCTORS 💚 🦓
AT THE CLEMENTINO FRAGA FILHO UNIVERSITY HOSPITAL OR FUNDÃO UNIVERSITY HOSPITAL, DR. MARCOS RAIMUNDO G. DE FREITAS TOGETHER WITH MY PNEUMOLOGIST, DRA. HEMENGARDA PATRÍCIA, REALIZED THAT IT WAS GENETIC. AND WE WENT TO GENETIC TESTS AND BETTER EXAMINATIONS…
I ALSO SEEKED HELP FROM THE SARAH KUBITSCHEK RIO NETWORK, WITH THE HELP OF DR CHRISTIAN MARQUES.
I HAVE RELATIVES WITH GENETIC AMIOTROPHIC LATERAL SCLEROSIS AND WE ALSO TESTED FOR POMPES DISEASE.
IN BRAZIL, GENETIC AMYOTROPHIC LATERAL SCLEROSIS IS ALSO CALLED ALS8 OR FAMILY TYPE. OR ALS T