The story of María
“ Knowledge is power. Now Amyloidosis is know yet. We are hopeless”
María, president of AMILO
(vosotros podeís poner vuestra letra en mi nombre y debajo mi foto)
MY HYSTORY Amyloidosis is a desease whith varios types and mutations, one of them and cassually is in Mallorca,where I was born is one of the fifth principals foccuss at international level in hTTR ( Val 30-50 Met ), In which nowadays I ‘m indetectable carrier, followed by Valverde del Camino ( Huelva). This type is hereditary, endémic and degenerative. Also, there are isolated foccus in the test of the national terrirory. Being multiorganic afect at diferents organs and at nervous periféric system, require to be treated for an multidisciplinar team compossed by specialists fisicians on digestive tract, cardiologists, neurologists, nephrologists and even for oftalmologists due to the creation of transthyretin un the eye regtine, causing damage in ocular visión being able to cause blindness.
Transthyretin, is an amyloid protein that when ssynthtizig badly form an abnormal folds that are deposited in vital organs ir nerves, preventig its normal functioning.
This protein is created by the liver and as indicated above un eye retina causing lack of transparency, cataracts and glaucoma.
In this desease, like plenty others is very important to have an early diagnosis, therefore is mostly important his diffussion.
For that reason my decission yo chare my testimony.
My mother began to show symptoms after being brutally run over at 70 yeats old, before she feel unsensibilithy at the beach but did not give to much importance due the lack of information. In fact, when it was defected transplants were not yet performed and after visit a various neurologists, an Amyloidosis specialists saw her and sugest me to make me a genetic test besides my childden, although they were still very small.
For me it was very traumathic, cause he explain me as an unknoun and very serios and incurable desease when my test he did positive like my daugthe’s whith 11 years old.
The called Andrade’s Syndrom for having been discovered and investigated by Dr. Corino Andrade from Portugal,place from it is believed to present and calls by this reason.
I decide to keep secret so as not to traumatize my children, and for not giving my parents a dislike. But when my son return from England whith 18 yeats old he was diagnosed whith a acute lymphoblastic leukemia. At this moment after Drs. Ask for a bone marrow tranplant asking her sister to donate, I was force to tell the family that she could’it do it.
At this time I was widow of my second husband an I felt very alone and depressed deciding to consult others neurologists in Barcelona, since a scolarship friend, Dr.Munar’s daugther who has diagnosed at all invite me at her doctoral thesis, and I began to explore in this desease back in the 80’s. In 1996 my husband died and I become un a very hard depresión, having to be entered several times for my great weakness.
Shortly after my daugther develop symptoms and she was wrong diagnosed to the point that they must to practice liver transplant since she was in an advanced stage at 26 years old.
She, after become better, decided to enter in an local Balear Association and for your doctor request between helping her I deciced to be part of this Association. It makes me a sense of life to figth for patients and she decided to live in this task for personals reasons, I decided to create AMILO.
Nowadays, this sad traumathic time, that I suffered hardly it’s made me a sense of life to have each day matters of learn and work hardly to be able to inform and give support and advocacy patients.
Now, also I’ve learned to be alone whihout feeling sad working day by day whith ilussion.
This desease coud be appear from between 25 and 70 years old and if the primery healthcare and the specialists are good enougth informed, the diagnosis is in the first stage, we are lucky to have within ouer reach the approuved drugs by the FDA and the EMA beside being able compassionate use and access clinical tryals In Spain.
The First symptoms are wheith loss, fatigue, unsensibilithy in foots, diarreas, constipación,and sexual disfunction in men.
“ONLY HAVE FEAR TO FEAR”
A bad notice could be a good notice, so you know how you must do and figth whith the good care of ouers fisicians. A good mood and mental healthcare is very important.
I thanks God every day, I have not developed the desease, although I do periodic checkups.
Is also very usefull to be aware when you need psichological help, so they can avoid giving you psycotropics. We are also aware that we must give psicosocial support since many people are alone and in periods of non aceptance and help from nutricionists doctors care in public health Centers.
For me to receive thanks from patients is the most satisfaction that I coud have. The key is not to collapse before the desease and have mental strench to help you have better physical health.