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 cracking smile.
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
Hello. I wanted to give you a final update on my precious daughter, Emily. On November 17th, Emily passed away. The day before, she had her first symptoms of the flu. The next day it quickly effected her heart and with in 11 hours from going to the hospital, she was gone.
To the families who have children who are newly diagnosed, every moment I had with Emily was worth it. Even holding her as she passed. The first few years of her life I grieved for what I thought I had lost. Until I realized how amazing she was, as is. She brought so much joy into our lives, even when she was having a rough patches. I do not want to discount the struggles and difficulties. But, there are difficulties in everyone's lives, some more than others. It's how you look at them and handle them that makes them easier or harder to deal with. We decided early in her life that it wasn't worth our health being effected to worry non stop. Worry never solved anything. The more I worried, the less I was able to appreciate the little things in life. I am the person I am today because of her. She taught me more in her short 14 years of life, than I had learned in all my other years combined. My other children are so compassionate with other people, because they saw how some people were not with her. We taught our kids to look at Emily's abilities and we called her disabilities, Emilyisms. I told them that we all have things that are not perfect about ourselves and we don't want people to dwell on those things. We should do the same for Emily.
We went to Disney World this past summer. I thought we were going because my oldest son will be graduating from high school and I wanted one last family vacation together. I wanted a big vacation! Our other vacations were to visit family and I wanted this vacation to be memorable. I am so glad we did. They all had so much fun. We weren't thinking of Emily ever being gone and so we were able to just be a family and enjoy ourselves. Emily was notorious for taking out her piggy tails as soon as you put them in. On the day we went to the Magic Kingdom, we put Minnie Mouse ears on her and showed her in the mirror. She was so excited and she left them in for 8 hours! Emily LOVES Mickey and Minnie Mouse. The picture I have included is from that day. It was raining and she was watching a large bird playing in a puddle. She was so mesmerized. As with most things in her life, things weren't perfect. It was raining. I am glad it was raining, I would have missed this moment if it wasn't.
Please keep our family in your prayers as we grieve over the loss of our sweet girl.
-- Kathleen, Andy, Keith, Ben and Sarah (Emily's twin)
|Birth Date||Feb 1998|
|Date of Passing||Nov 2012|
|Diagnosis||Distal 10q 22.3 - qter|
|Parents||Kathlenn and Andy Tye|
|City||Menomonie, Wisconsin, USA|
Emily - Age 4.5 yrs ||
The Tyes - 2003 |
Kindergarten 2004 ||
Disney World 2012 |