Mosaic Partial Trisomy 14

Diane's - posted on 01/03/2013

Our second child born 12/17/12 was diagnosed with Trisomy 14 Mosaicism (20%). She was born 5lbs 5oz and had a small opening at the back of her mouth (open palette; surgery at 9mos) and had a loud heart murmur (Tetrology of Fallot - she will need surgery at 4mos).

She's gorgeous; so angelic and perfect in our eyes, regardless of the "abnormalities". She is still in the hospital in St Pete at All Children's Hospital. This is a new journey for us in that our first daughter, Beatrix, was 9lbs 12oz and is tall and very advanced for her age. Diane is so tiny and I was shocked at how small she was. I immediately felt guilty, thinking it was my fault due to my advanced maternal age, or perhaps it was something I didn't eat enough of, or I maybe drank too much soy milk, or something. But come to find out, it was nothing my husband or I did - it just happened.

Her o2 sats are somewhat low at times and they are keeping her at the hospital for more monitoring and testing. We are currently waiting for a sleep study test result to see what sleep position is best for her.

How did your children develop before any surgeries were done? If someone could email me and perhaps we can Skype to talk? I really need someone to talk to. I pray daily and ask God for courage and strength, confidence and energy to be ready for when Diane comes home. I've been pumping breast milk for her and she is gaining weight, but it's a slow gain.

I will pray for you and your children and ask that you also pray for our Diane, please. She's already taught us so much about unconditional love and brought us closer to God, she has helped to make my marriage stronger with my heroic husband, has made me appreciate every single thing about my very active and hands-on 3 year old daughter, and has made us all look at our lives differently. We are even closer to our parents and grandparents who have come to our aid, giving us love and support throughout.

Please contact me at beayoungs@gmail.com. I would love to hear from you.

Sincerely,
Bea

Kristin - posted on 11/26/2012

I have a 3 yr old with trisomy 14 ( 20%) and shes just now starting to walk on her own.. she understand very well what you say just doesnt know how to talk. She is picking up on sign language pretty decently. as for food she only licks solids .. wont eat anything that isnt out of her sippie cup.. and it cant really be thick either, if it is she gags bad. She has glasses and a hearing aid as well as a lift on her right shoe. its good to know that there are other moms going thru this..

Kendra - posted on 10/02/2012

My daughter is one month old. She had a genetics test done a few weeks ago because the doctors were concerned about her short leg length and heart defect. The results came back last week that she has Trisomy 14 Mosaicism. We do not meet with a genetics counselor for two more weeks so I am looking for any information or stories to share so we can have expectations for her. The report says 37% of her genes contain this??? Thanks for any help!

Beth - posted on 06/18/2011

@Kidada -- It's great that your daughter is eating so well. Alexa is scheduled to see a specialist at the end of the month because she seems to have plateaued and doesn't seem to be gaining any weight or getting taller at this point. She will likely be needing a tube. What type of therapies is your daughter receiving? Pennsylvania has been really good in terms of services available to help Alexa. She was in a home therapy program 4 days a week until she was 3 and now goes to a special school 3 days a week.

Kidada - posted on 06/14/2011

@Beth 95 out of 100 cells : / She does eat, just about anything : ) She has mastered chewing the past couple of years. She had a nissen procedure when she was 3 months old and a Gtube. The Gtube was removed when she was 8 months old. She's in 5th percentile for her weight but average height. She also wears glasses [when she's not pulling them off] and hearing aids. We're in Baltimore, MD.

Beth - posted on 06/12/2011

@Kidad -- Yes, I live in Philadelphia, Pennsylvania in the U.S. Your daughter will walk and talk one day. If you believe it, you help her to believe it. When your daughter was diagnosed, did they tell you what percentage of cells the trisomy was found? For Alexa, it is 20%. Also, how is your daughter with eating?

Kidada - posted on 06/11/2011

@Beth -- Do you live in the U.S.? I am excited to meet other parents who have children with similar genetic backgrounds. I still have hope that my daughter will walk and talk one day.

Beth - posted on 06/06/2011

My daughter Alexa is 4 years old. She was diagnosed with trisomy 14 mosaic when she was about 9 months old. Alexa still does not walk either. She does talk and can even sing whole songs. She counts to about 12. She doesn't eat any solid food. She will eat baby foods, puddings, yogurt, etc., but nothing solid. When she was first diagnosed, I was told basically that only time would tell what Alexa's limitations and/or disabilities would be.

Kidada - posted on 06/05/2011

Wow, how old is your daughter? It is very rare. Were you given the diagnosis of that your child will be less than avg. height or weight and developmental delay? My daughter is 5 and still does not walk. She's doesn't speak either but understands very well. She has asthma and has outgrown other health ailments, thank God : )

Amanda - posted on 05/16/2011

hello, i saw ur post in trisomy 14, i have a daughter with trisomy 14 mosacism, very rare we are the only ones in australia, i just just meet a mum on facebook with a son with the same condtion its taken me 3yrs to find someone as there are only around 25 worldwide