Vania’s Story

2q23.1 Microdeletion Syndrome, MBD5 Deletion

Vanderbilt Children’s Hospital, Nashville, TN

United States

When my husband & I found out we were expecting another baby in 2007, we were beyond thrilled. We had been told up to that point that we would not be able to have any more children, so imagine our surprise! My pregnancy with Vania was very difficult. I was very sick throughout the pregnancy and struggled with constant allergic reactions to food, gaining weight, and keeping it on. We knew, based on my pregnancy that there was a strong possibility that Vania would have some kind of a medical issue after birth.

Within hours of Vania’s birth, we knew there was something definintely wrong. She wasn’t feeding well, and she wasn’t keeping very much down. The nurses dismissed our concerns and blamed it on “new mom jitters.” We were sent home 48 hours after Vania was born. Vania continued struggling to eat, and she continued to spit up 3/4 of everything she took in. The doctor wasn’t concerned until Vania was 7 days old. By that point, Vania was purple and very lethargic. We were told to switch her to soy formula.

Vania continued to struggle with eating and keeping the formula down. She also missed every single milestone from birth. The doctors were still not concerned. We heard a lot of “she’ll grow out of it.” It wasn’t until Vania was 4 months old and after she was labeled failure to thrive that doctors started to listen to us. Vania was put on medicine for severe reflux.

When Vania was 6 months old, her regular pediatrician referred us to a GI doctor because the interventions for the reflux were not working (medicine, changes in formula, etc). Vania’s GI doctor discovered she had very low muscle tone and she was placed on a very special formula that was used primarily in hospitals for tube fed babies. Even though Vania continued to spit up 3/4 of everything, she started to gain weight and grow again.

After several months went by, we were able to get a referral to Riley Children’s Hospital in Indianapolis (we lived in Indiana at the time). Vania was tested for Rhett’s Syndrome, Cerebral Palsy, and Muscular Dystrophy. Every single test came back negative.

In July 2009, we made the decision to move to Tennessee to be closer to my husband’s family. The move turned out to be the best thing that ever happened for Vania. Her new primary care physician in Franklin, TN suspected she had some serious health problems and referred her to Vanderbilt Children’s Hospital. Her first visit was with a neurologist in April 2010. She was diagnosed with OCD. She started the medicine on May 1, 2010… the next day, she walked for the first time.

Another year of sleepless nights, constant struggles, and still no idea what was wrong with Vania…and we finally listened to Vania’s primary care physician and agreed to have her tested for Autism at Vanderbilt Children’s Hospital. In April 2011, we went in for the testing. At the time, Vandy was participating in a study to see if children with Autism had genetic conditions. We agreed to have Vania tested. In May 2011, Vania received an official diagnosis of Autism. In late June 2011, we got a phone call from someone in the genetics department at Vandy. Vania had something called 2q23.1 Microdeletion Syndrome. Vania had several of the known symptoms at the time (significant speech delays, significant developmental delays, significant sleep issues, low muscle tone, slow growth, feeding problems, seizures, OCD, screaming for hours each day).

Back in July 2011, no one knew anything about 2q23.1 Microdeletion Syndrome. We were pretty much on our own. The information we were given wasn’t positive. There was no information on quantity of life or quality of life. We had no idea what to expect, just the worst case scenarios the doctors gave us.

We were blessed in that even though we got the worst case scenarios, we had a family support system, a church family that adored Vania and welcomed her at all events (including VBS), supportive friends, an excellent medical team from Vanderbilt Children’s Hospital, supportive co-workers (from husband’s job at Vanderbilt) and an amazing teaching staff at the local elementary school (Metro Nashville Public Schools). We went from hearing that there was no hope for Vania (she’ll never walk, never talk, never function) to hearing… “Hey, Vania can do great things when she grows up! We can’t wait to see what happens!” Without all of this, I’m not sure we would have survived the stress that went with having a diagnosis for an extremely rare disease.

UPDATE 2016

4 1/2 years ago, when we got Vania’s diagnosis, we were left on our own and with many unanswered questions. As the years have gone by, we’ve learned more about 2q23.1 Microdeletion Syndrome and MBD5 Deletion. The last year has flown by. Vania is now 8 years old and we’ve seen a lot of progress this year. Her Gastrointestinal Issues have finally been resolved. She is finally completely potty trained. Her seizures are finally under control. Best of all, she is finally past the developmental age of two!! She blew through developmental age 3 and is now developmentally 4 years old. Vania enjoys annoying and playing with her older sisters. She tries to do everything they do, including attempting to play volleyball and basketball. At school, she takes great pride in learning to read, learning basic math, and learning anything about science. As a family, the biggest lesson we’ve learned over the last four years, is to be joyful about everything Vania does. Even the small stuff (like arguing with her big sisters).

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