Murrieta, California (CA) - Trisomy 13 Mosaic
 

4-4-08

Kaitlyn was born on September 29, 2001 at Riverside Community Hospital. My pregnancy was normal no issues I was 40 weeks along. At this time I was 26 years old. The Delivery of her went well. She weighed 8lbs. When Kaitlyn was born she did require an O2 mask for about 3-5 minutes. When she was taken to the newborn nursery she was noted to have a weak cry and was hypothermic (97F) and Hypoglycemic (40-45). Her sugars remained low despite repeated oral feedings. She was then transferred to NICU where IV D10W started. Her initial CXR noted to be normal. Subsequent film done (re: emesis after eating) showed incidental fracture of left clavicle, eleven ribs, but no cardiopulmonary disease. On 10/2/01 she began having rapid stridorous respirations, with desats to low 90's to high 80's. She received single treatment of racemic epi which resolved the symptoms. Barium swallow on 10/3/01 showed no vascular ring or other irregularity of esophagus. Also, she received a Laryngoscopy and was found to have a small glottic opening but symmetrical cords and no supraglottic anomalies. She was then transferred to LLUMC (Loma Linda University Medical Center) NICU for her continued care and management of respiratory instability, glucose instability, multiple anomalies. On 10/5/01 she was given a Bronchoscopy which came back normal. She saw a genetic specialist on 10/8/01 regarding her left simian crease, 11 ribs, history of the 2 vessel cord. Dr Bartley reported no syndromic conditions. While she had her Discharge physical exam on 10/08/01 a systolic heart murmur was found diffusely over precordium without any radiation to her back, acyanotic lungs: inspiratory stridor, & good air movement. I was then able to take her home after 11 days in NICU. Keep in mind that after deliverying her I had to be discharged and return home without my new baby girl.

It wasn't until 10/16/01 that we got the call from her pediatrician that Kaitlyn was then Diagnosed with Trisomy 13 Mosaic. I remember this day vividly. My husband was in the Fire academy up North in Lone, CA. I remember hanging up the phone and running to my computer to find out exactly what that meant. I was horrified by all the things I found. I couldn't find much on Mosaic, but what I did read left me numb. I remember calling the academy and asking them to page my husband and have him call home as it was an urgent matter. It seemed like eternity before they called as I guess they didn't want to interrupt the class. I told my husband of our news and we both started to cry. He said he would work on coming home. Within minutes after we hung up he called to state that his Department was going to pay for his flight home and that the Department Chief and Chaplin would be picking him up at the airport here in our town. We thought our daughter was going to die. While waiting for his return home his mom came to stay with me for support. When he returned home we made an appt to see the genetic specialist to find out what we should expect.

We saw Dr. Bartley from Loma Linda University on 11/13/01. He stated that 7 of her 20 cells had an extra 13, 13 of 20 cells in her peripheral blood were normal. He just stated that she was doing quite well for a child with Trisomy 13 Mosaic. He also went on the say that it is very difficult to determine what the Mosaic distribution is within the central nervous system where the major impact of a chromosome abnormality occurs. He just stated that we just have to wait and watch her develop.

Since then Kaitlyn has had no health issues besides a persistent heart murmur noted since birth. She had a consultation with a pediatric cardiologist on 5/4/2007. Her heart tones were normal S1 and S2. There was a grade 2/6 systolic ejection murmur with a vibratory quality at the left lower sternal border. There was no gallop, clicks or diastolic murmur. Her chest X-ray on 4/17/2007 was read as negative. A 12-lead EKG was normal for her age. An echocardiogram was normal as well. It was said that her heart murmur was an innocent heart murmur. They recommended that no further cardiac test or follow-ups were needed.

Kaitlyn is very sweet, very smart, and loves her animals. She can memorize a song on Radio Disney after only hearing the song once. She is somewhat ahead of most kids in her Kindergarten class. She does however see a speech therapist once a week for some help with her pronunciation for some of her words. But, is doing quite well and making improvements. She does often use the excuse of a tummy ache quite often when she doesn't want to do something or if she doesn't want to go to school. She does have anxiety and sometimes will make herself sick to her stomache. Other than that I really can't complain. I am very lucky. I know that it could have been a lot worse. I am thankful for her every second, minute, and hour of every day.

Barry & Amber Owens
sweetpea0400@yahoo.com