If you have a child with Jacobsen Syndrome. Please email me at erinkewer@comcast.net I would love to help you answer your questions and direct you in the right place.
My daughter is 4 years old and was diagnosed with Jacobsen Syndrome when she was just a week old. She was born about a month early and was taken to another specialty hospital the day after she was born. While in NICU at the hospital she was born, they found that she has cardiac problems. They decided to transfer her to a cardiac surgical floor to keep and eye on her and run more tests. I had her by c-section. I went into labor with her early in the morning on the 20th of December. Her heart rate was dropping and she was not moving around much. Since I had two other c-sections they I had another with her. After then found the cardiac issues and wanted to transfer her, my OB doc let me go be with her after 2 days of being in the hospital.
Soon as she was taken in by the new hospital there were so many doctors in the room. They were doing test after test. The genetic doctor was going over everything that she noticed was wrong with her. They first thought she had Turner’s Syndrome but after the blood work came back she was diagnosed with Jacobsen Syndrome. Jacobsen Syndrome is also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen, and is believed to occur in approximately 1 out of every 100,000 births.
I was so upset because I could never picture this would happen to our family. My daughter has cardiac problems, bleeding disorder, learning/speech disability and some other minor issues. She ended up staying in the hospital for almost 4 week and was released to come home Jan 12th. Olivia is now or will be on the 20th four years old and is doing great!
I have created a website for other Jacobsen Syndrome families to get information about the syndrome. I also get a lot of help from Dr. Paul Grossfeld out of California. Each year he hosts conference where all the Jacobsen Syndrome Families from all over the world get together to hear about his new findings and get to meet other kids. I have not yet been able to go to a conference because of the expenses. I am trying to help other families get to the conference by looking for sponsors and donations. If you are a sponsor or would like to donate please go to http://jacobsenssyndromeawareness.com/. We need all the help we can get to do more research on our babies.
It has been a long, stressful but amazing journey so far. The first picture is when she was in NICU and the second picture is from this past weekend at her birthday party.
Olivia is a very smart girl and she isn’t letting anything bring her down!!
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I think it is wonderful that you started a website and that you have such a fantastic outlook and attitude. your daughter is gorgeous!
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Erin you are doing a great job for the JS parents and children community. We all love you and you have our support… Olivia is such a star!!! Keep up the good work babes.
We all wish for healthy children but what happens when that doesn’t happen? Is happy children good enough? What about a child with a quality life?
As long as she makes you happy and smile and is smiling herself you’ve done everything right! My thoughts are with you and your family.
It’s such a wonderful thing to be helping other families by sharing your experience.
My son Julien was born with Jacobsen’s. I did have a complicated pregnancy with him which caused me to have contractions during my second trimester. I saw a genetic specialist as my APF test came back positive with the possibilities of down syndrome. The specialist monitored me three times a week and told me that he was not down syndrome, the complications was due to having too much amniotic fluid. During delivery the doctor noticed that I had an empty water bag which I delivered before Julien (somekind of a water twin), I think that was the “too much fluid” cause. At birth, he showed no signs of any complications. He did have a red mark on his left eye which we assumed was caused by pressure from birth as he was a normal vaginal birth. At six weeks old, he began the projectile vomitting and had surgery for pyloric stenosis. He began to grow as a normal baby but his developmental stage was a little delayed compared to what I had experienced with my first daughter. Although we knew something was wrong when he was about 6 months, the doctors could not find an answer for us. He went through numerous diagnostic tests and nothing would come up. He had eye surgery to repair the left eye tosis when he was about 3 years old. Due to extent of the droop he had to have the other eyelid repaired. When he was 5 years old he started having behavioral problems and was diagnosed with ADHD. he currently takes Concerta for that condition. I choose to give him this medication because if he does not take it, he wakes up screaming and running up and down the hallway in the early hours and it helps him with his concentration during the day. It also controls his agressiveness towards his two younger siblings.
Julien is now 8 years old and continues to struggle with his learning. Last year I took him to Loma Linda University and saw a neurologist whom requested a chromosome test. It was then when we received the news that he had Jacobsen’s. When we received the results, I was in tears…not because of his condition but because we finally got an answer…as a Mother, you have this feeling that something is wrong…that feeling never went away. It was then when it was lifted off my chest.
Julien struggles with regular stuff like buttons, zippers, and self-care, etc… but the wierd thing is that he is really good with pattern type puzzels, anything electronic and knows how to navigate well on the computer. He loves sports, especially soccer and basketball. So far, his blood work has been normal and he has not had any other complications.
I want to thank Erin for sharing Olivia’s story with us. This is the first time I blog so I really don’t know much about it. If you would like to contact me, you can look me up on Facebook under Isabel Herrera-Beltran and let me know why you are contacting me. I will be happy to answer any questions you may want to ask about Julien’s experiences.