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. As of yet, I have not taken him to a cardiologist.
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.
Ibeltran991@verizon.net
February 19, 2010
Friends,
On January 9, 2010 I will be participating in the Disney Marathon at Walt Disney World with the Miracle Marathon group. My focus and reason for training and completing this event is to gain financial support and awareness for the 11q Research and Resource Group (www.11qusa.org) in honor of my daughter, Faith.
Those of you who have met Faith know how exciting it is to watch her grow and progress. This is in large part possible due to the research done and information shared by the 11q Research Group. Those who don’t know about Faith can read a little more about her amazing journey.
A FAITH Story
During my pregnancy we found out that Faith has an 11Q deletion, also known as Jacobsen’s Syndrome, a rare chromosome disorder in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. The same day we found out that Faith has Hypoplastic Left Heart Syndrome, which means the entire left side of her heart did not develop. Doctors were unable to tell if she would survive after delivery. A late ultrasound showed that she hadn’t been growing as expected so I had to deliver her 2 weeks early via c-section.
Faith was born on September 1, 2004 at 5 lbs. 10 oz. Due to an imminent hurricane threat and the fact that our Orlando area hospital did not perform the types of surgeries Faith’s heart would need, Faith was flown to Miami Children’s Hospital a few hours after birth where she would have to undergo heart surgery. Several events and complications lead to the discoveries that Faith had sustained a brain bleed, was possibly unable to produce her own platelets (we later learned she has Paris-Trousseau Thrombocytopenia, a bleeding disorder highly common with the 11q deletion), and would possibly need lifetime transfusions and a bone marrow transplant. At this point, with Faith in the ICU, the surgical team decided that because of the high risks of the bypass surgery and bleeding, her small size, her brain bleed/bleeding disorder, and her uncertain future that it would be best for us to take her home and let her pass away in peace.
Of course we refused. Instead we asked for information for research hospitals, pleaded with the Chief of Pediatric heart surgery, wrote letters, and just refused to take her home, living in the hospital for weeks and weeks. We knew she was a fighter! Because while most children with HLHS go into heart failure days after birth, Faith just kept going. The Chief of Cardiovascular Surgery finally agreed to perform surgery on Faith but gave us, her parents, a bleak outlook. Faith was 5 ½ weeks old when the surgery was performed, and by this time it was discovered that Faith COULD indeed produce her own platelets. After a 5 hour surgery and much bleeding and uncertainty, Faith was doing great!
Faith is now 5 YEARS OLD and she continues to amaze her doctors! She has undergone a total of 3 heart surgeries, skull surgery and eye surgery and the results are to date successful. After her trying and uncertain first months, Faith continues to grow, excel and be curious of the world around her. She can’t get enough of her older brother and sister and she currently attends a pediatric facility where she receives physical, occupational and speech therapies and is monitored by nurses. She says and signs a few words and is currently at the developmental level between a 1 and 2 year old and is constantly advancing. Faith loves attention, socializing, cuddling and the outdoors. And even though she has only half a heart, her energy level exceeds that of everyone else. Her strength and fight and perseverance touch everyone she meets.
How YOU Can Help
So, here is what you can do: First, pray. Pray for Faith and others like her. The 11Q Research and Resource Group provides invaluable support to our families as well as life saving research. They have a dedicated cardiologist who does research exclusively for these children as heart defects are very prevalent. They have seminars and conferences studying medical and social conditions for these children and adults. Second, give. Send a check made out to Miracle Marathon, with my name (Jana Wells) in the memo line of the check, to the address below. Or you can go to www.miraclemarathon.net and click on the donate button located at the upper right. Please be sure to put my name in the runner line. My goal is $1,000.00, which is not a huge amount, but will go so far in providing hope and support to families like mine. I hope you will help me reach my goal. Even just a few dollars would be appreciated.
Many Thanks,
Jana & Faith
11410 Cypress Drive
Clermont FL 34711
*You will also get a receipt with information for your tax records mailed to you.
December 8, 2009
I want to give Heather a big Thank You for helping me with this site. She has done a lot so far and we still have a lot to do.
We are still looking for survey’s, photo’s, and any information to add to the site.
Keep checking back for more information!
Erin
November 20, 2009
Hello everyone! I am really excited to move on up with the website. I wanted to make it into a blog type site because there is more to do with it then just a regular website. The site is not done yet and will be adding more to it. Please feel free to contact me and let me know if you have anything you would like to see on the site. I would love to hear from you.
November 19, 2009