Photo Album
Living with Trisomy 13 - Patau's Syndrome

Jessie Kristine Byrnes

Born December 21, 2007

  Crescent City, California (CA) - Mosaic Trisomy 13 & 16
Heart defect & Brain defect
Jessie has had open heart surgery and has echo's every three months.
 
   
 



I decided it was time to update her album because so many wonderful people have been emailing me to see how Jessie's doing.

We've had our up and downs this year. She "popped" a stitch in her heart patch last summer that found her back in the hospital and on her medication. Her cardiologist and surgeon have been watching her very carefully and decided a couple months back that her heart/lung pressure was too high. They did a surgical procedure called a Cardiolopulmonary catheterization under fluoroscopy on Mar 25, 09. They found that her ECHO's are reading correctly and her pressure is too high, but that her hole is too small to be causing it. Her arches have opened up(which is really good news) but her heart is still enlarged so she continues on her meds. They are checking the pressure every three months by ECHO to make sure it doesn't get any higher. They are thinking that this high pressure may be due to her genetic problem. That she may just always have this high reading. We can only hope that that's the cause and it does her lungs no harm.

So those were our downs. Now for our ups~ She's Walking !!!! This is such a huge accomplishment for her and us. We were originally told by the doctors that she probably wouldn't be able to even crawl or feed herself. That the part of her brain that was affected controls her internal temperature, desire to eat, and allows the brain halves to communicate. She appears to be doing well in all those areas. She eats, not a huge appetite, but she eats. She's 31 inches and 18lbs 7ozs now. She babbles like crazy, is recognizing certain words to objects and seems like she's trying to say words. We have been working on sign language with her. She gave me the sign for milk the other day & I was really excited that she's picking it up. She is also proving to be an excellent little sister as she rummages through her big sisters room and follows her all around the house.

She is such an amazing wonderful addition to our family & I feel internal warmth any time I look at or hold her. Her laugh and smile are contagious and I can't help myself but love all over her. She truely is a miracle baby along with all the others on here.

John & Tonya Byrnes
 jtbrnz@yahoo.com

 

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5-26-08

My name is Tonya Byrnes and my daughter is Jessie Kristine Byrnes. I had a very hard pregnancy. I tested positive for downs syndrome(1 in 10 chance), but upon further tests found out that she was fine. I never did get very big and my doctor just said I had a smaller baby, but he didn't realize how small.

I went into labor and started bleeding at 36 weeks. Labor was stopped, but then the following week started again. A relief Doctor was in and decided to do an ultrasound as she had never seen me and wanted to know what she was dealing with before she did the c-section. Thank goodness she did. She probably saved Jessie's life as she found out she was too small. Jessie had a 3 minute d-cell so they decided to life flight me out to the nearest hospital with a NICU, Rouge Valley Medical Center in Medford, Oregon. This is where Jessie was born via emergency c-section at 12:19am on Dec 21,2007. She was only 3lbs 10 ozs and 17 inches long. She stayed for 3 weeks. It was during that time that we learned a large number of things about her. Her heart murmur turned out to be a small ASD and a very large VSD. She has agenesis of the corpus colosseum and her hypothalamus grew together in the back section where the colosseum is missing. The doctor's tested her for a syndrome, didn't think she had it, but tested anyway. She didn't have it, but they were stunned to find that she has Mosaic Trisomy 13. This was diagnosed when she was approx 4-5 weeks old.

Jessie had to have open heart surgery on March 11, 2008 at only 11 weeks old. She had a very hard time in recovering at first. The first 4 days were very critical, her body was shutting down, once it finally "woke-up" she bounced back quickly. She's such an amazing fighter !! At the time of the surgery. We had a biopsy done of her heart tissue. We just got the results back and are once again shocked at the results. They found that she has a Trisomy 16 in the heart muscle. Our cardiologist thinks it's a typo and is following up to disprove it. Time will tell.

Jessie had IUGR. I was 37 weeks when I delivered, but she was only at a 31.5 weeks size. The Dr. caught it at a 17 week ultrasound, but said that I must be wrong on my date of conception. I told him I used a digital monitor and knew the exact day, but again, I was dismissed. That bothered me through the whole pregnancy so when this all happened I actually wasn't as surprised as I could have been.

Currently she is doing pretty well and just turned 5 months old. Her VSD was a 7mm hole, it's now a 3mm hole. Her aortic arch has opened some, hopefully it will open more by the next echo. Our biggest concern with her is that we can't put weight on her. I would really like to know if any other parents are having this problem or others. I would love to talk to anyone who has info or wants info..

Tonya
My email address is jtbrnz@yahoo.com


 
 

 

Submitted 5-26-08