Share your story to inspire others

CENTOGENE wants to help raise awareness around patients with rare diseases, give a voice to the community and unite. 

  1. Patient stories

Jessica's Story

I’m writing this for my daughter Jessica. She was born with this disease but it was not diagnosed until 2015 when after years of researching, I, found it and the doctors tested her after years of genetic syndrome testing and she had it.

She was born with conductive hearing loss but severe enough she is aided and at this time her left ear she is legally deaf. She had four holes in her heart, larynomalcia, her head circumference is 24 inches and has the trapezoidal shape. She has cranial facial abnormalities, her teeth are diseased and she doesn’t have a lot of her adult teeth. She had a cleft palate. It has effected her life the most because she is hard of hearing in both ears.

The doctors do not know enough to fix her ears with this condition so she has grown up struggling with social relationships, language development, and learning that deafness is overlooked by society because it’s an unseen illness. She has had many surgeries, mostly to repair the ears. When she was diagnosed we were rejected By numerous dentists and doctors passing her along because they never heard of the disease. She has said she feels tired of all the surgeries and doctors appointments. She has had to try really hard but she does well in school, it helps I am a teacher, she is a great girl, and we are constantly working on the social aspect and looking for new ways for her to hear.

I think sometimes she feels like she can’t identify with others because she lives in a hearing world. She has learned about how cruel kids and adults can be at an early age. I tried to raise her to be independent, intelligent, and resilient. She doesn’t like to talk about it with others and has had counseling but she is thriving. My biggest worry is they will never be able to help her or at least be able to explain things to us, and the other 12 I found around the world. But Jessica’s worries are those of a 6th grade middle school girl!! 

Jessica's mother, United States

Tuesday, February 20th 2018


Barbara's Story

Meu nome é Rose, e há 07 anos atras, em 2010 , recebi a noticia que faria minha vida mudar totalmente. Minha filha era portadora de uma doença rara, progressiva e sem cura, chamada de NIemann Pick tipo B.

Tudo começou aos 4 anos de idade, quando ela teve os primeiros sintomas, infecções pulmonares e dores osseas. Investiga daqui, dali, exames, internações, derrames no pulmão e no quadril. Consegui chegar a um hospital onde fizeram uma biopsia pulmonar e me falaram que ela tinha doença de deposito. Mas o que era isso??? Como curar? Onde buscar ajuda? E começa minha saga de mãe. Entrar em contato com familias, associações, dentro e fora do país, em busca de ajuda.

Aqui no Brasil, consegui consulta com ums dos melhores geneticistas que existe. Atraves dele, colheram nossos sangues e encaminharam para fora do pais e de lá veio o resultado: DOENÇA DE NIEMANN PICK TIPO B. No Brasil até então, não havia muita informação sobre essa doença, somente artigos medicos de fora. Li todos, reli, e a Barbara piorando. Ficando mais fraca, tendo mais crises pulmonares. Ficou 01 ano usando oxigenio todos os dias. Mais de 12 remedios por dia. Ao menos 1 internação por mês. A Barbara Hoje esta com 15 anos, sobrevivendo dia após dia. Moramos em Sao Paulo, mas vivemos nossa vida em estradas e idas e vindas aos hospitais , para que ela faça os tratamentos paliativos. Por enquanto o unico que a ajuda! Sonhamos com o dia que a Terapia Enzimatica, que esta em fase de testes, possa ajudar a todos os portadores, e ai sim, ela poderá ter um futuro saudavel, sem dores e com muita alegria. A Barbara participa do Estudo Natural da Doença, um um centro de pesquisas nos EUA, para quem sabe , ajude a medicina a um dia encontrar a cura. Para quem esta chegando agora nessa luta, com seu filho ou filha, peço que nunca desistam dele, nunca deixem ninguem falar que eles não podem, que eles não conseguem. ELES PODEM TUDO, são fortes, e só precisam de nós para lutar e apoiá-los!

Rose, Barbara's mother, Brazil

Saturday, February 24th 2018


José's Story

El cuarto de mis hijos José fue diagnosticado de Distrofia muscular de Duchenne a los 2 años siendo que en la familia no había antecedentes de la enfermedad. El golpe para la familia fue devastador pero supimos emponderarnos en el cariño de la familia y amigos para salir adelante.

Hoy José tiene 4 años recién cumplidos y a diario realiza múltiples terapias que relentizan el avance de la enfermedad que básicamente va debilitando en forma progresiva todos los músculos de su cuerpito. Como padres adoptamos la conducta de siempre mantenernos informados en argentina y el exterior sobre nuevos tratamientos que aún se encuentran en etapa experimental. No perdemos las esperanzas de que se halle una cura. Vivimos al norte de Argentina, donde la atención de estos pacientes se dificulta por la falta de médicos especializados, por lo que decidimos crear la FUSAENM (Fundación salteña de enfermedades neuromusculares) SIempre intentamos conservar la alegría para darle a José la vida que todo niño merece.

José's parents, Argentina

Saturday, February 24th 2018


Sergio's Story

Sergio llegó por sorpresa y completó nuestra familia.

El embarazo fue genial, pero al nacer, ya los médicos le vieron rasgos faciales que podrían ser indicativo de algún síndrome. Nació con hipoacusia, un ductus silente y con una fuerte tortícolis que necesitó más de 60 sesiones de rehabilitación. Cuando ya parecía que la cosa iba a mejor, empezaron a salirle manchas por todo el cuerpo. Después de un largo peregrinaje por dermatólogos, neurólogos, pediatras y pruebas médicas, llegaron a la conclusión de que tenía un síndrome neurocutáneo. Y además, uno muy poco común y del que hasta hoy, se conocen muy pocos casos. En España solo está registrado Sergio.

Hipermelanosis Nevoide Lineal y Espirilada.

Mientras llegaban a este diagnóstico, Sergio crecía y no se sentaba solo, no gateaba, no andaba, rechazaba el contacto físico, las diferentes texturas, hiposensibilidad al dolor, sin comunicación... Empezaron a hablarnos de autismo, trastorno generalizado del desarrollo... Siguieron más pruebas y en la resonancia cerebral nos dieron el mazazo definitivo.

Sergio tenía un tumor cerebral, adyacente al tallo cerebral. Inaccesible para biopsiar. Inoperable por los riesgos... Controlan su crecimiento mediante resonancias cada 3/6 meses. Si creciera, tendríamos que llevarle a radioterapia de protones a otro país, ya que la radioterapia que hay en España, de fotones, le destrozaría el cerebro.

Somos la familia de referencia de esta enfermedad en FEDER. Sergio también está inscrito en el Registro Nacional de Enfermedades Raras del Instituto de Salud Carlos III (ISCIII).

Actualmente es el único paciente en España registrado con esta enfermedad. La enfermedad rara de Sergio no tiene cura y es impredecible. No existe investigación para ella, porque cromosómicamente estos pacientes son normales. Pero el trastorno del desarrollo mejorará mucho con terapias. Ya hemos conseguido que camine, aunque aún tiene poco equilibrio. Y también que diga algunas palabras.

Creemos en Sergio, sabemos que puede llegar a ser un niño independiente algún día. Y ya sabéis que "Cuando alguien cree en ti, puedes llegar a hacer aquello que no creías posible".

Nos gustaría tener vuestro apoyo y conocer a otras familias con el mismo problema, sea esta enfermedad o cualquier otra parecida.

Entre las facomatosis o síndromes neurocutáneos más comunes están:

  • Enfermedad de Von Recklinghausen o (Neurofibromatosis tipo 1)
  • Neurofibromatosis tipo 2
  • Síndrome de Sturge-Weber
  • Síndrome de Von Hippel-Lindau
  • Esclerosis tuberosa o enfermedad de Pringle-Bourneville
  • Hipomelanosis de Ito
  • Hipermelanosis nevoide lineal y espirilada 

Caminando junto a Sergio

Sergio's parents, Spain

Saturday, February 24th 2018

Tell your stories

Do you have a story that can help others? We are looking for people who have been diagnosed with a rare disease or whose family members or friends have been affected.

Your story can help others to find answers to their lifelong questions and learn how to take care of their health. We love to hear your story in full.

  • When did the symptoms first begin? At birth? Later on in life?
  • How did/do the symptoms affect your every-day life?
  • What doctors did you see? What exams did you have?
  • When, how and with what were you diagnosed?
  • Is there a treatment or cure for your condition? Have you gone through any therapies or clinical trials? 
  • What sort of advice do you have for others who may be going through a similar diagnostic journey?

Patient Story Form

Your story

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By submitting your story/photo, and clicking the checkbox above, you grant CENTOGENE AG permission to use your story, photo, first name, and country (if provided). These will be published as part of our ongoing programs to increase rare disease awareness on our website and possibly also in other documentation materials. All your information and provided personal data (name, address, phone number, email, story, birth date or age, name of family members, photo) provided will also be stored in our database for further use and we may contact you in this regard in the future. You may at any time request us to rectify, erase, grant access to and/or restrict the processing of your data. You may also lodge a complaint regarding the usage of your data to our data privacy office as outlined in our Data Protection Policy. Your information will only be used in pseudonymized or anonymized form and we will never publicly use your last name, email or phone number.

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