Jose´s Testimony in Brief. Enjoy it !

I guess it is difficult to summarize a whole life long testimony. But here you can find mine, from the point of view of a person living with ED.

The main difficulties are related to the summer season in Spain. It is the hot season where you can reach temperatures up to 40ºC in the day time..

Written by jose1967, published 7 months ago.

I was born with ED in a hot summer day of August. It happened in Madrid (Spain) and I always wonder how I survived in such weather conditions with so little literature and knowledge about ED in the late sixties. I guess mothers have a special instinct about what happens to their children.

I hardly can recall my early days and I hardly can recall when I started to notice that I was different. I guess when I started to notice that I was feeling uneasy with the temperature either inside or outside the house. Maybe when I was 7 or 8 years old?

As I was getting older I was feeling I had more difficulties to get along with my friends or some kind of activities in the summer time.

Everything went just fine for the rest of the year but it was a slow and hard process to understand that ED would shape my life in many ways.

The start of the summer season marks for most of the people, the beginning of things such as vacation, practice of some sports, go out in the open, etc.

SUMMER for me always had a different meaning. It always meant how to manage to have a normal life in that season. When I was born, air-conditioning was not widespread as it is now in Spain. So, everytime I went out and felt hot. I had to run back to my house and had a cold shower or just have a bath in cold water. In other occasions, I had to lay on the floor to keep my body cold. I always made sure I was not far from home or make sure I had a plan B to keep myself cold if needed.

To be a teenager it is hard for everyone. When you are ED affected things get even harder. You know that your lack of hair, normal teeth will be a handicap. When you hear someone is depressed because that person has gained a kilogram… you think it can't be compared with your physical disadvantages.

But then, your personality develops in ways that I´m sure for other normal teenagers it does not. You start to feel you are being appreciated for your personality and in some cases you feel that some people love you as you are. Including your physical appearance!

Choosing what to study in order to find a job that will not pose any problem for the normal development of your life is another story. You just have to think well in advance… especially leaving in a hot South European Country.

I finally decided to study chemistry and thinking that if found the proper job, I would stay in room temperatures of around 20ºC. I would make sure that I would be able have a normal life even in the summer.

As a person that always wanted to get the best of myself…. I decided to study English in the United Kingdom. I left Spain when I was barely 18 years old and manage to learn and speak the language… even without teeth. That was a story… but I managed to put my dentures in there and be able to pronounce words correctly.

I returned to Spain and after working in different places. I found a job that would allow me to travel across the world. Europe, Asia, America and Africa included. I´m sure I would have never made it if air-conditioning would have not have been invented.

Life went fine for me after that and then, I met the woman of my life in a working trip in Bulgaria. It was love at first sight !

I told her everything that I knew about ED. I wanted her to be aware of everything from the start and then if she didn't like what she heard..i would understand. Even though, she made her mind up and left everything behind to live with me in Spain.

We´ve got married and after enjoying the first years of marriage travelling, etc. We decided it was the right time to have children. We took some genetic test and some genetic counseling. We understood that my children would be carriers but not be affected by ED.

My wife got pregnant of twins and everything went fine during her pregnancy. Our twins were born as predicted and all my fears disappear. I did not want them to go through all I went.

Now I am having a total different experience in my life. I´m an ED affected father of twins not affected by ED. I learnt how to manage myself to live with ED. Now I have to learn how to manage myself with children not affected by ED. Now I wonder how ED will shape our lives…

Thanks to all who have read this words and have been moved by them !

Remember…life goes on…
Jose

Written by jose1967, published 7 months ago.

20 comments for «Jose´s Testimony in Brief. Enjoy it !»

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  • formerEURORDISstaff | published over 2 years ago | Originally written in English

    Hey Jose,

    Thanks so much for writing here. I think it shows how people living with ED should not have any limits set on their future. Look at what you can to do with a little air conditioning, honesty, and planning. Glad to hear your twins are doing well. Next time you are in Barcelona, let us know, I'd love to have a coffee.

  • andrewwilliams | published over 2 years ago | Originally written in English

    Thank you Jose. We have similar issues with the heat in Australia. We have put in a swimming pool at our house which means the children can keep cool, and their friends like to come around, so they are also able to socialise normally.

    I am sure your positive approach to ED will mean that the experience for them is really great. Already they have a place to visit should you ever venture to Australia...

    Again, thanks for the post it was brilliant...

  • jose1967 | published over 2 years ago | Originally written in English

    It was a pleasure to leave my testimony here. I think it is so important for ED affected individuals as well as for families alike.

    There are so many stories and situations around a daily life of someone affected by ED. You have to face many limitations... specially in the summer time but you still can make a living.

    For some families it is hard, specially for those living in a hot climates and unable to buy some air-conditioning.

    I just have to thank that I could have a normal life where I live.

    It would be nice to meet you in Barcelona next time I travel there. I will let you know it in advance.

    Regards
    Jose

  • jose1967 | published over 2 years ago | Originally written in English

    Thanks Andrew !

    You need a positive approach to face ED.

    Sometimes it is hard and difficult to get by but being possitive makes things more bearable for everyone.

    I thank you so much for your offering. Australia is my last continent to visit and I hope I can do it in company of my twins and wife. I´m sure we would have a great time there.

    Best regards
    Jose

  • jorgelina | published over 2 years ago | Originally written in Spanish

    Hola Jose... te escribo desde Argentina... muchas gracias por compartir tu experiencia de vida... te cuento que mi hijo mellizo de casi 3 anos fue diagnosticado con ED hace tan solo una semana. El no tiene dientes, solo unos pocos, y tiene problemas en la piel pero aun no esta definido el tema de sus glandulas sudoriparas. Yo lo observo y el si transpira, quizas no tanto como su mellizo, pero lo hace en el cuello y las manos. En tu caso, no transpiras nada de nada? como se dan cuenta los medicos que no tienes glandulas?
    Gracias!
    carinos desde Argentina!

  • jose1967 | published over 2 years ago | Originally written in Spanish

    Hola Jorgelina,

    Yo no transpiro nada de nada. Tengo una hermana 4 años mayor que yo que también tiene DE. Mis padres ya tenían algo de experiencia antes que naciera.

    En los años 60 era mas difícil que la comunidad médica tuviera información alguna de DE. Pero me imagino que cuando mi madre se dio cuenta que mi hermana no sudaba, lo consultaron con el médico. Recuerdo que mi madre me dijo que este médico consultó con otros colegas en el extranjero. He incluso algunos de ellos se interesaron tanto que viajaron a España a examinarnos y hacernos pruebas de todo.

    Desde luego era un fenómeno que no estaba tan documentado como ahora.

    Saludos
    José

  • albertares | published about 1 year ago | Originally written in Spanish

    Muchas gracias por tu relato de superación Jose!
    ( ...y veo que lo de dormir en el suelo en verano ya es todo un clásico DE)

  • jose1967 | published about 1 year ago | Originally written in Spanish

    Desde luego que es un clásico Albert ! Imagino que te has identificado con muchas cosas mas....

  • ISZABO | published 6 months ago | Originally written in English

    First time connecting to this website, and I wanted to look at what was written about the ED that I transmitted to my 20 year old son... Your story José is very touching, and I would like to send you congratulations for your way thru life with this disease.You are very courageous. And so are our kids who have to face the situation of "difference" which is never easy but undoubtedly strengthens and makes them tough. And this is a true help for life ! I wish you the best, and to your family.

  • formerEURORDISstaff | published 6 months ago | Originally written in English

    Welcome and thanks for commenting. Where are you from? How's your son doing?

    Jose is one of our moderators here and volunteers with the Spanish ED association, he's a really great guy and we're happy to have his family's story here to inspire others.

  • jose1967 | published 6 months ago | Originally written in English

    Thanks Iszabo !

    Just to let you know that the main reason to write my story in this site was because I wanted to inspire those parents, kids or people affected by ED. Life may be difficult at times with people affected by ED but at the same time it´s possible to have a normal life. Every individual has to chose what approach fits them better.
    Now, as father of non-ED affected twins my life is also challenging, During the summer season, my kids love to do things other kids do...like riding a bike or play football, etc.. As father, I had to show them that other activities are also possible... like going to the swimming-pool. I also decided to tell them about my physical limits in the summer to make them understand that their Dad (me) has problems in this season. They are aware that I do better in cold weather and it is funny to hear them say that they are looking forward for cold weather in order to do things they love to do. This is the best part for me.

    Greetings
    Jose

  • Anatoli98 | published 4 months ago | Originally written in German

    Thanks for this story. It was very interesting and helpful. Even if I do not have any problems with the summer season or the temperatures, it is interesting for me to know the variety of symptoms people with ED experience.

    I myself am 17 years old and I am exactly in the development phase, which they described. It motivates me even more to hear stories from people who have already more experience in life. Finding people who accept you as you are is hard. As soon as you get into this youth phase, you begin to think about yourself a lot. But everything is always possible and optimism is healthy. We as people living with ED, MUST show the others that there are no limits.

  • Dadi | published 2 months ago | Originally written in Italian

    Chi ci po' aiutare per aiuto nutritivo e psicologico .Abbiamo saputo da un paio di mesi che mio figlio a la DE a 2 e cinque mesi non mangia di più di un anno beve solo latte.Siamo preoccupati non mangia neanche frullato.aiutatici come dobbiamo fare.i medici ci sono dato una carta e basta e finita.

  • Dadi | published 2 months ago | Originally written in Italian

    Chi ci po' aiutare per aiuto nutritivo e psicologico .Abbiamo saputo da un paio di mesi che mio figlio a la DE a 2 e cinque mesi non mangia di più di un anno beve solo latte.Siamo preoccupati non mangia neanche frullato.aiutatici come dobbiamo fare.i medici ci sono dato una carta e basta e finit UDa.

  • isaias | published 21 days ago | Originally written in Spanish

    Hola al momento de realizar el examen se sabe a ciencia cierta lo que tiene? por que mi hijo de un año seis meses tiene los sintomas no suda no tiene dientes y no tiene cabello es necesario seguir algun tratamiento.....?

  • isaias | published 21 days ago | Originally written in Spanish

    Hola al momento de realizar el examen se sabe a ciencia cierta lo que tiene? por que mi hijo de un año seis meses tiene los sintomas no suda no tiene dientes y no tiene cabello es necesario seguir algun tratamiento.....?

  • bk187711 | published 19 days ago | Originally written in Spanish

    Buenos días José, no sé si me podrás ayudar.
    En mi familia existe la DE, lo presentó un tío mío ya fallecido y un primo con el que no tenemos relación.
    La cuestión es que me planteo se madre no tardando y solicité un estudio para ver si soy portadora, me han encontrado una mutación pero no pueden garantizarme que sea esta misma ya que no tienen comparativa familiar (no hay estudios en la familia). No sé si siempre presenta alteración el mismo Gen o no.
    No sé si me puedes ayudar con esto, o ponerme en contacto con alguien que pueda darme un poco de luz al respecto.
    Llevo año y medio luchando por conseguir un estudio genético y ahora que lo tengo no acabo de tener garantías de saber que es exactamente porque no hay estudios publicados con esta misma alteración.
    Gracias por todo de antemano.

  • jose1967 | published 18 days ago | Originally written in Spanish

    Hola !

    La DE puede ser hereditaria o bien "in novo", es decir, se produce una alteración en la concepción del bebé aunque la madre y el padre sean completamente sanos. Por lo que me dices, en tu familia ya existía la DE.

    Lo primero es que hay que saber el tipo de DE. Puede ser ligada al Cromosoma X, en el que los varones la presentan y las mujeres son portadoras. También autosómica dominante o autosómica recesiva.

    En mi caso yo tengo DEH autosómica recesiva y para completar el estudio tuve que hacer la prueba genética toda mi familia, padres, hermanos y sobrinos. De esa manera, supe las posibilidades que mis hijos podrían tener para heredar la DE. En mi caso, el estudio genético lo hizo la Dra. Encarna Guillen del Hospital Virgen de Arriaxaca de Murcia. Es la persona que más y mejor conoce la DE en España. Te recomiendo contactes o te deriven a ella para que pueda hacerte un estudio genético.

    Espero que esta información te ayude.

    Saludos
    José Manuel

  • bk187711 | published 13 days ago | Originally written in Spanish

    Si, en mi caso está ligada al X.
    Estoy a la espera de ver si se hacen también la prueba a mis padres, y así ver si exactamente proviene de la rama materna que es donde la tenemos ubicada.
    Gracias por facilitarme el contacto de la Doctora Guillen, toda información en bienvenida.
    Saludos.

  • jose1967 | published 13 days ago | Originally written in Spanish

    Si en tu caso es ligada al cromosoma X, las probabilidades de tu descendencia es muy clara. Si tuvieras un niño, manifestaría la enfermedad y si tuvieras una niña, sería portadora.

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