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    Posted June 19, 2014 by
    rubyri
    Location
    Providence, Rhode Island
    Assignment
    Assignment
    This iReport is part of an assignment:
    Raising a special needs child

    Raising a child with "designer genes." Our daughter has a rare chromosome variation called Ring 18.

     

    CNN PRODUCER NOTE     The best advice rubyri got for her daughter Jenna is to let her write her own story. Jenna, who is turning five on July 8, has chromosome 18 ring, a chromosomal abnormality that changes the way the brain develops and works, sometimes causing developmental delays.

    Currently, Jenna takes physical, occupational, speech and feeding therapy. Rubyri and her husband have changed the way they view Jenna’s accomplishments, measuring her success by “inch-stones,” not milestones, Kim explained. ‘Other [parents] celebrate when their child takes his or her first step. We celebrated when Jenna put her feet on the floor,’ she said.

    Still, she sees so much potential and success in her daughter. Jenna is graduating preschool, and starting kindergarten in September, and has become an integral part of her classroom’s community. She gets along with the kids in her class and gets invited to parties too.

    When she first started school, kids would ask why Jenna could not eat with her mouth or speak, but as soon as the teacher explained that Jenna learns, eats and communicates differently, the other kids in her class accepted those differences and made her feel welcomed. ‘She is accepted and that’s what every parent wants for their child,’ Rubyri said.
    - Jareen, CNN iReport producer

    Our daughter Jenna was born on July 8, 2009. She’s got designer genes and a trademark giggle. This is our story.

     

    Because I was of “advanced maternal age” (37), we were offered lots of prenatal tests. We declined all except for the Level II enhanced ultrasound that looks at the baby’s anatomy and can indicate gender. At 18-weeks, we learned that we were having a baby girl and except for an echogenic focus (a small bright spot on the heart); everything looked fine with the baby. Again, we were offered additional testing, but declined after much discussion, because we wanted this baby and we were having this baby!

     

    At 36 weeks gestation, we were getting really excited and talking about how big our girl would be and wondering when she would be born. We hadn’t yet decided on her name. At a routine check-up, we learned that our girl was small and having some trouble. We won’t forget the doctor’s exact words: “Your baby will be better out than in, so we’re scheduling a c-section.” We thought she meant for later in the week, not in 20-minutes! And shortly thereafter, we were a family.

     

    Our girl was born on 07/08/09 at 36.4 weeks and 3-lbs 11.5-oz. After waking from anesthesia, I was brought down to the NICU and saw my husband, Dave, before I saw Jenna. He had tears in his eyes and he told me how beautiful she was. We looked at our tiny baby and as I counted her fingers and toes (10 each), a nurse adds: “ …and don’t worry about that cleft palate. It can be corrected.”

     

    Our hospital does automatic genetic testing for any baby born with a craniofacial abnormality. While we waited for those results, we learned how to change the smallest diapers we’d ever seen, how to use a Haberman bottle and we were on the fast track to an advanced degree in Neonatal Medicine. Aside from Jenna being born early and small, the most immediate concern at that point seemed to be her tachypnea (fast breathing) and coordinating her ability to suck-swallow-breathe so she could eat safely. We decided to tube feed her to remove the risk of aspiration.

     

    Several days later, we received the results of the FISH genetic test and we learned that Jenna had Ring 18. The two geneticists that talked to us explained that it’s quite rare and they referred us to the Chromosome 18 Registry and Research Society. They gave us a print out from the website that described the condition. We peppered them with questions about what we could expect for Jenna. Will she know who we are? Will she walk? Talk? Laugh? Go to school? Have friends? They told us that every child writes their own story….

     

    I just wanted to know if she would be “OK”. What was once very overwhelming and scary is now part of her just like the fact that she has brown eyes, curly hair and a gorgeous complexion.

     

    Development is delayed for Jenna but she receives physical, occupational and speech therapy. She sits, rolls, is starting to bear weight on her legs and stand, reaches and holds things in her hands.  She wears glasses and a hearing aid. She attends a wonderful school and enjoys her friends.   We celebrate "inchstones," as well as, milestones.

     

    Early on, our days were filled with therapy three or four times a week and running from one doctor and specialist to the next. Now, she has her therapy at school and routine pediatric visits. She sees her other specialists for follow-ups only annually or bi-annually.

     

    And so, nearly 5-years later, we want to share Jenna’s story. She has an infectious giggle, crazy hair and she looks adorable in her purple glasses. People are drawn to her. She goes to school and the children in her class adore her. They don’t see her chromosomes and ask why one is different than the rest. They see a friend. We see the greatest gift we’ve ever received.

     

    It’s not easy raising a child with complex medical needs and “designer genes”. We found support and education from The Chromosome 18 Registry & Research Society and comfort and friendship from the Chromosome 18 families that walk this road with us.

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