I am writing to you about my daughter Emily. She is now 22 months old, and
has partial trisomy 10q 22.3 through the end of the q arm. She has a twin
sister, Sarah (Sarah has normal chromosomes). My husband and I discovered
Emily's problem while I was pregnant. We had an ultrasound and found out that
we were pregnant with twins. At the same time the doctor noticed that Emily
was quite a bit smaller than Sarah. They thought that maybe I had conceived
Emily at a latter time than her sister. With the following two ultra-sounds,
however, the size difference between the girls grew greater and greater. My
doctor recommended that I have an amniocenteses. With this test we found out
that Emily had partial trisomy 10q 22.3 - the end. This was so devastating.
This diagnosis came the week of Thanksgiving. The doctors told us that she
would not survive pregnancy, and that I should come in to be monitored once a
week to make sure that I still had two babys. We were afraid that Emily would
die in the womb and if we didn't catch it in time, we might also lose Sarah.
We had two pages typed full of problems that Emily would have if she was born.
Well, she was born and only had a few of the problems written on that page.
The girls were born at 38 weeks gestation. Sarah weighed 6 lbs 13 oz and
Emily weighed 2 lbs 15 oz. Emily was not breathing when she first came out,
but with a little massage(and prayer)she started breathing on her own. She
was sent to Children's Hospital in Minneapolis, Mn. Her mucus membrane in her
rectum was lodged and we thought that she needed surgery. Luckily, She fixed
the problem herself. She stayed in Children's for six weeks. She was having
problems retaining heat and digesting food. She came home weighing just over 3
lbs. She has ptosis of her left eye, she has hearing difficulties and requires
hearing aids. We are finding it hard to keep her hearing aids in, due to the
feedback and her grabbing at them. We are trying to break her of her arching.
It is one of her favorite things to do. She has a feeding tube to help with
feedings. She digests food very slowly and has a high acid count in her
stomach. Right now she is taking zantac to control the acid. It seems to be
working. It is a constant struggle to get Emily to gain weight. After she
was born, she did great at gaining weight. She actually followed the growth
curve, but all of the sudden her weight tapered off and almost came to a
hault. She is now 22 months and weights just under 13 lbs. Every time I try
to start her on solid food (baby food) the food gets backed up and I have to
go back to giving her just the concentrated baby formula. She has an
occupational therapist that comes once a week to help with exercises to
strengthen her muscles. She just started crawling last week. She is a very
determined little girl. She is a joy. Her first smile came after I set the
Christmas tree up last year. Every time she looked at it she would give a face
Thanks for your web site, our doctors told us that Emily was the only one
with this disorder. It is nice to know that we have other examples of what
Emily can someday achieve. When I read that your son was in school, it really
encouraged me about Emily's future possibilities.
Emily is now 5 1/2 years old. She is always a happy girl and explores
everything! She is in the Early Childhood Program at the local elementary
school and she loves it! She gets occupational and physical therapy there
two times a week. It is a blessing to have all of her therapy at school.
It makes life a little less kayotic with fewer appointments. Physically,
she is 18 pounds 8 ounces. She has lost about a pound in the last few
months because of bowel issues. She is 34 inches long. We are still
struggling to get Emily to gain weight. She is now on a formula called
Peptamen Junior and we add duocal for extra calories and fat. She has been
tube fed since she was 15 months old and I do not foresee this ending. We
have never been able to get enough food into her without the G-tube. She
continues to have bowel problems and is taking Lactolose for this issue.
Over all, her digestion is very slow. She does stand and will take a few
steps with a walker, but she mainly crawls everywhere. And I mean
everywhere! 🙂 At her last cardiology appointment, we were told that all of
the holes in here heart (asd,vsd,pda) were all closed. But, she has
developed a subaortic membrane. This is where a membrane slowly grows
across where the aorta and the heart meet. Eventually, it will close off
the aorta completely. The only way to correct this is open heart surgery
and physically she is not strong enough for this surgery. We also
discovered recently, when she broke her leg, that her bones are VERY tiny
and weak. The doctor said that she will probably start breaking more bones.
Her blood work came back normal for levels of all the vitamins and
minerals needed for bone growth and development. So, we are not really sure
what to do to help her bones to strengthen. Her vision and hearing test
have come back normal now, but she still responds as if she has a deficiency
in both. Developmentally, she is at about a 6-9 months with some areas at
about 12 months. She has touched so many people's lives and is truly a
miracle child. No one can leave her without a smile on their face. Even if
she happened to bite them! 🙂 I would love to hear from anyone! It is
always nice to talk to someone who as "been there done that". Or if someone
wants to trade ideas on how to get your child to gain weight! I can't wait
for all of the data to be collected on trisome 10q. I am really wanting to
have some sort of growth chart to be able to work with. The picture that I
am attaching is of our family. Top row is my son Keith, husband Andy, next
row is (Emily's Twin) Sarah, Myself (Kathleen), my son Benjamin, and in
front is little Emily! Thank you!
Kathleen and Andy Tye