In July 2012, my little princess Amy became very ill and was diagnosed with Brown-Vialetto-Van Laere syndrome (BVVL syndrome), an exceptionally rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs.  Amy was only given days to live and we had to make a difficult choice on what was best for her future. Doctors told us they weren’t hopeful as she suffered cardiac arrest and was taken into intensive care where she stayed for six weeks.

Amy was born a healthy child with no problems up until the age of 20 months.  Just before she turned 2 years old, she lost her hearing, her ability to walk, sit up, move any limbs, blink, swallow, cough, breath on her own or talk all in the space of a few weeks. We decided to give her a fighting chance for survival. As her Mum, I trusted my motherly instincts and asked for her to have an operation to have a tracheostomy placed and long term ventilation and gastrostomy.

Today, Amy is 3 1/2 years old and it has taken a lot of hard work to bring her back to being stable. With recent studies and a trial vitamin she is taking, she is walking well (actually running), started eating and drinking bits, can now blink, is able to have at least six hours a day off of her ventilator, can make noises and recently had signs of hearing some pitches. Originally, we were told she had a life expediency of weeks and then no more than 5 years.  Now were been told she could live to be 10 to 20 years old. If this isn’t hope for a miracle, I don’t know what is.

Amy is only the 59th case of this rare condition in the world found in the past 100 years.  If anyone has a child or loved one with this condition, please don’t lose hope as my little girl has done amazingly well and is a true miracle in our eyes.

9 thoughts on “Child with Ultra Rare Disease Called Brown-Vialetto-Van Laere Syndrome Fights Back and Defies Insurmountable Odds”

  1. Emma says:

    So sorry I have only just found this message I actually didn’t think my story had been posted thank you all so much for the comments,Amy is doing so well now she is in nursery now and mainstream which they never said she would.I will comment again with a better update tonight thank you all again so much for your kind words x

  2. Emma says:

    We have a Facebook page Melanie and Stephanie for just BVVL it is a private group but we have 12 members now from all over all with children with BVVL,all different ages and we share are hospital appointments and medicines with each other and support each other through good and bad times could you both email me your Facebook names and I will add you it is a great support.The group is only for BVVL sufferes and you can share you story there has even been meetings with some parents,and we have anther group that is open to the public as we are starting to add doctors so they can help too it started off as a small group but we have found more and more would love for you both to join xx

  3. Federica says:

    Hola, soy Fede Goya, tía de Yurena Pérez Sánchez de 11 años de edad, actualmente le han diagnosticado a mi sobrina el sindrome de brown Vialetto Van Laere, ella lleva desde los ocho con perdida de audición, actualmente como por gastro, usa respiración asistida para dormir bipap, se le han engarrotado las manitas y va a rehabilitación diaria. Hoy el 17 de febrero de 2013 y necesito hablar con alguien que tenga a alguien con una enfermedad igual y nos pueda ayudar, se los agradecería de corazón.

  4. Federica says:

    Me olvide decirles que Yurena Pérez Sánches vive en el Sauzal, Santa Cruz de Tenerife.

  5. Federica says:

    Porfavor ponte en contacto conmigo mi facebook es: Fede Goya, mi correo fredamer@hotmail.com

  6. Paula Korgis says:

    My great nephew Dalton is 3. Shortly before he turned 2 my niece noticed he wasn’t responding to verbals. He started stumbling around when he was around 30 months. After about a year we finally have a probable diagnosis. I say probable because they’re going to redo all the tests so they can be positive. Dalton has lost most use of his hands and his muscles in his shoulders and arms are about gone and he doesn’t have the ability to cough, gag reflex is gone. Emma, I’m praising God that Amy is doing well. Please keep us updated.

  7. Alie de Boer says:

    Hello,

    We would like to share the face-book groep, we have a daughter with Bvvl.

    THANKS
    Alie de Boer

  8. Vanessa Ly says:

    Hi my name is Vanessa and I’m not sure how all this works (first timer with Group chats) but my son has recently been diagnosed with BVVL and am just reaching out to see who/what’s out there. Any info on groups ect would very much appreciated
    Thanks Vanessa

  9. Jacob Nachimson says:

    I too have it. There’s nothing wrong with it, doesn’t affect your vision, it just makes it very difficult to look in a certain direction.

Comments are closed.

X