The conference call, PCD update

After I received the call from UNC where the doctors confirmed that they believe we are in fact dealing with PCD, (you can catch up here) I was truly devastated. I cried all day and for the next few days to follow I was a train wreck. I admit it, I am totally in love with my child and I cannot imagine my life without her. Adding one more diagnosis to her already complex medical state is terrifying, especially one that can be so catastrophic. There is so much I need to absorb and so much that I want to share but I’m taking small steps right now.

We had scheduled a conference call with the Pulmonologists at UNC for this past Tuesday. I anxiously awaited the call, I sat in my bedroom with the mess of Sophie’s medical records (I’m in the process or reorganizing them)  and waited. I was scared, anxious and light-headed as I sat there pondering what this call would tell me. I already felt guilty that this disease was my fault because of mutated genes. Finally the phone rang.

The conversation began with introductions followed by Dr. Leigh, the specialist who treats PCD explaining the functions of the Cilia in the body. This was followed by what they believe happened with Sophie and then we moved into questions about Sophie. It was a long and very successful call. I cried throughout out the call as certain information was brought up and could not shake my nervousness.

To start. The cilia are made up of multiple parts that work together to perform the proper functions of clearing out the bacteria we breathe into our lungs and airway. Typically both parents carry the gene that mutates and the end result is PCD. In Sophie’s case they believe there may be a link between PCD and Cri du Chat Syndrome. Sophie is not the only child with CDCS to have PCD so when you are presented with an already rare syndrome and you find more than one individual with another rare disease it is only logical to suspect there is something more going on there.  Having an incomplete chromosome affects the proper development of so many functions in our bodies and chromosome 5 is a large chromosome. Sophie is missing the outer arm of the cilia, further testing is needed and I will keep you all updated as new information is given to me. It is currently a work in progress as I work with the doctors to figure it all out.

In the meantime Sophie will be treated as if she has Cystic Fibrosis, there is no treatment for PCD at this point because it is so rare. Hopefully that will change in the near future.

For so long Sophie’s cough has been a subject of constant worry until now. Coughing is one of the only defenses the body has when the cilia do not function properly so with PCD a strong cough is good as it loosens the mucous from the lungs.

Running and playing was prescribed. Yes you read that right, typically you would assume an individual with lung disease should not be involved in any vigorous activity but not in this case. Movement is good especially in Sophie’s case as she coughs more when she is excited and playing outside. As she runs and then proceeds to cough she is not only loosening the mucous from her lungs but keeps it moving and therefore not stuck on her lungs or airway. Suppressing the cough in Sophie’s case can be dangerous because the build up of too much mucous can prevent proper function of the lungs and even lung collapse.

Another interesting thing is that children with PCD often have issues with fluid in the ears and hearing loss because of that. As Sophie has grown her hearing has slowly improved and after the tubes were placed in April and her ears were drained she no longer requires her hearing aids. Typically with PCD as the child’s face changes and the ear canals change and are more  better able drain the hearing improves. It has never been understood how Sophie’s hearing has slowly improved especially since we were told she has sensorineural hearing loss. So now this opens up the possibility that her hearing loss could have been from the PCD all along.

There is alot more information to come and I will do my best to get any new information out to the public. Sophie may only me one of many if there is a link between CDCS and PCD it is critical to get the information out to families and medical professionals.

When Sophie was born I knew this child would change my life forever but I never realized how much effect she would have on so many other lives. Her trials, our journey was destined to be so that through her we could help others. It has been and always will be my mission to help others and spread awareness.

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2 thoughts on “The conference call, PCD update

  1. Patricia

    Hola Charity, sé que estás pasando por momentos difíciles, igual me siento preocupada, pues Galileo al igual que la mayoría de los niños con CDC, tiene dificultad en el manejo de secreciones. Voy a estar pendiente de la información que irás suministrando y lo hablaré con el neumólogo de Galileo, tengo 2 preguntas, además de que haga ejercicio y juegue, que otra recomendación te han dado? También quería saber si Sophie tiene los genes mutados de ambos padres? es valiosa esa información para mí ya que trataría de ver como hacemos estudios en Galileo y nosotros como padres. Te mando mucha fuerza, y de corazón por todos nuestros hijos ojalá exista una forma de mejorar los síntomas y disminuir la velocidad de progresión de la enfermedad. Dios está con nosotros y gracias por toda la información.

    Reply
    1. My Dance in the Rain Post author

      Patricia, La otra recomendacion es mantener los tratamientos de nebulizer para ayudar los pulmones mantenerse trabajando bien y tambien loque le dicen chest PT. Dandole con la mano (cupped) en la espalda o pecho para ayudar flojar loque tenga en los pulmones.

      Segundo. Estamos esperandos el DNA kit para que los doctores puedan analisar los para saber si nostros somos los que tenemos los genes mutados. PEro a loque me dijo la doctor ella no espera que seamos nosotros.

      Parece que el chromosoma 5 tiene algo que ver en la formacion de los cilia y solo es logico que si falta un pedaso pueda causar malformaciones.

      Desde que sepa algo yo lo compartire con todos.
      Chary

      Reply

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