miércoles, enero 21, 2009

Conozacan a Samantha!!! Meet Samantha!!!

Sam
Les presento felizmente a Samantha. Gracias a Dios, y a ustedes que han hecho posible que más gente se entere de este blog. Un abrazo a Jennifer y todo mi agradecimiento por compartir su experiencia. También un fuerte abrazo a todos los que integran esta pequeña familia de niños con Johanson-Blizzard.
I'm happy to present all of you to Samantha. Thanks God, and all of you that have made possible that more people know about this blog. A big hug for Jennifer, and all my gratitud because you are able to share your experience. Also I want to send a big hug to all people to compose this little family of kids with Johanson-Blizzard.

Hello, my daughter is Samantha, she is a 16 year old in Virginia and very energetic. Samantha was born in August of 1992 weighing only 5 pounds 2 1/2 ounces and was only 2 weeks early. She was diagnosed with a mild case Johanson-Blizzard Syndrome just before she was 1 year of age. At 9 months old, her pediatricians tried to have her taken away from me because they felt that I was not feeding her properly since she was not gaining weight (failure to thrive). I had repeatedly tried to talk to them about the problems that she had when time for her to eat, she could not keep the formula in her body and would get sick and throw it back up. She spent 15 days at a children's hospital at the University of Virginia and it was proven there that I was doing everything I could to care for her and her diet was changed to try and allow her body to hold in the food she was given. We kept in touch with one of the doctors there until Samantha was 11 years old and the doctor told us that there was nothing more that he could do or learn from her.

At 1 year old, she weighed only 12 pounds and has remained small through out her life so far. At 16 she now up to 103 pounds (as of 12/24/08) and stands at 4 feet 10 inches in height. She is of average intelligence and attends a public school. At the age of 14 she was diagnosed as a diabetic, yet her body still makes it's own insulin, it can not make enough to control all of the sugars that it needs to. She has since gone from taking daily insulin injections to using a medication called Metformin to help keep her sugar under control.

She had problems with getting ear infections when she was younger because of the smallness of her head and everything being so close together, but she is still able to hear with little difficulty. She did lose all of her baby teeth and was able to have her permanent teeth come in with the exception of 1 that decided to grow the wrong way and we had to have it cut out to prevent her other teeth from being damaged. Her permanent teeth are small and look like her baby teeth still, but they are there.

I also have twins sons who were born without JBS and have shown none of the symptoms or growth problems that Samantha has had to endure. She jokes with everyone that she is the oldest and yet the smallest of them. I have included, with this, Samantha's school picture from this year so that you can see the similarity of the nasal area with others who have JBS as this was the first thing that was ever mentioned to us when they informed us of her having this syndrome.

This blog is a wonderful thing that has been set up to let other families out there realize that they are not alone. It will be so much better for all of the families, knowing that they have someone to talk to who knows and understands what they are going through. Thank you for setting this up.

Jennifer

sábado, enero 03, 2009

Feliz Año Nuevo!!!

VALEN

SOFI

Debemos conocernos bien y aceptarnos,
y desde lo que somos, ver el sin fin de posibilidades que tenemos
para lograr lo que queremos.
Feliz 2009!!!

Este año quiero presentarles a unos pequeños hermosos que nos contactaron hace unos meses. Ellos son Valentín y Sofía, son hermanos y los dos tienen Síndrome de Johanson-Blizzard. Deseo de todo corazón que este año podamos hacer más grande esta comunidad de niños con JBS, que las familias tengamos un contacto estrecho y podamos algún día reunirnos y compartir directamente nuestras experiencias. Y me comprometo a trabajar duro para hacer posible este sueño. Un fuerte abrazo a los padres de Valen y Sofi, a su abuela que está siempre pendiente de la familia. Y que Dios envie sus bendiciones para todos. Así sea.