Tuesday, March 19, 2013

Trisomy 19


Trisomy 19 Awareness Day, featuring Oskar, with Partial Trisomy 19!

On April 6, 2009, our little superhero Oskar was born. During my pregnancy, the doctors were keeping an eye on his heart. But, the bigger he got, the harder it was for them to truly know if there was anything wrong with him or not. He was born and we went home. Two weeks later, I take him to a follow-up cardiology appointment. What started as a routine appointment, ended up in a trip to the Janet Weis Children’s Hospital because something was wrong. On the outside, Oskar looked healthy. But, on the inside his heart was in danger. Most of the next 4 weeks is a blur. I think the only thing that kept me sane was the fact that I had to pump every three hours. At least, I was able to do something while he waited, sedated, until he could have surgery. On April 29th, the doctor performed a coarctation of the aortic arch (basically he had a narrowing of his aortic arch.) He was also diagnosed with Noncompaction of the left ventricle (his left ventricle is not fully developed, it is spongy).
Life returned to normal, until September 2009. Because he was healthy and growing, the patch on his aortic arch needed stretched to keep up with him. What should have been an easy non-surgical balloon dilation – turned into him coding on the table and then needing a blood transfusion. Apparently, Oskar is not so fond of being intubated and his airway is small. This lead to being on oxygen and lots of sleep tests. (I don’t know how they expect you to sleep with all of those wires and someone watching you) Long story short, he had sleep apnea.






Oskar was always frail and on the small side and had issues with reflux. This led to his next procedure(g tube and fundoplication) in August 2010. Well, the little man had so much swelling in his throat that they couldn’t intubate him and he began to code. To save his life, they gave him a trach. The little guy, who scooted around on his butt and said “what’s that?” was silenced, but alive. Life with a trach is a whole other story for another time. Sign language was a life saver until he could learn to speak around the trach. He was diagnosed with partial trisomy 19 or Duplication 19p13.3. So far, only 2 people are registered with this exact chromosome duplication. So, there is not much information out there in regards to what life is like with this trisomy.
His tonsils & adenoids were removed in November 2011. Then, May 2011, the trach is removed!!! He was speaking with the trach, but now all he does is talk and sing, and ask questions. We love every noisy minute of it! Today, he is a very active 3, almost 4 year old, who loves being in preschool. He works hard, most of the time, with his speech and PT. We continue to monitor his heart. He will most likely need something done this year. But, I am not going to fret because he is way stronger than me. And, he has proved every doctor wrong when they question his abilities.

3 comments:

  1. I just came across your blog in a Google search of partial trisomy 19q13.3. My daughter has that and a partial deletion of 22q13.4. She is 15. I am looking for any information on trisomy 19q13. Would you be willing to share? Thank-you.

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  2. Elizabeth, please contact me at kwhistler@live.com

    ~Kelly

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  3. Chromosome 19 Trisomy
    See
    http://TransplantHandbook.com

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