Living With Ring14

August 19, 2013

The joys of holding a precious newborn baby girl were still fresh, the crib was barely used, and a closet of new clothes awaited her growth.

As any loving parent knows, a baby’s world is tailored around their needs and comforts. Bottles are warmed just right, bath water drawn lukewarm, the tearless soap, gentle fabrics, FDA approved everything to make sure the baby is safe. All of this is studied, planned for and organized, just for this precious newborn.

Sometimes, life throws in the unexpected. Sometimes, the best of prepared, loving parents are found facing a nightmare, that their baby is stricken with a terrible illness. Worse than that, sometimes all the tests, doctors, specialists, and medications can’t put a stop to it for this precious child.

Brooke Ann Costilla, at just three months of age, began having severe seizures, as many as 100 or more a day. Her parents wanted answers, to fix it, to protect their child. Doctors not only couldn’t stop or prevent Brooke’s seizures, but they also didn’t know what was causing them.

Brooke, born January 21, 1992, was seemingly very healthy the first three months of her life. Her development came to a standstill when she would have flurries of seizures every day and night. The seizures wreaked havoc on her body and mind, contractions of every muscle, firing of every neuron in the brain, all going simultaneously while her parents watched helplessly while this became a daily nightmare, over and over.

After three months, Brooke was medi-flighted to Texas Children’s in Houston and was finally diagnosed with a very rare chromosome disorder called Ring14. Now, back in 1992, Brooke’s mom Sheila Ferguson will tell you, “There just wasn’t any information out there, I was told that she would be (in the doctor’s words) ‘mentally retarded’ and would have very bad seizures.”

“They couldn’t tell me anything more than that,” Sheila said. “In 1992, there were only about 5 reported cases in the US that we knew about, but of course technology isn’t as it is today, we had no social media. So we began our very scary, lonely journey through the realities of Ring14.”

Through the years Brooke has had many problems associated with her Ring14 and Sheila has cared for her battling every one of them.

“Of course epilepsy is the most relentless and bothersome, but there is also microcephaly, global developmental delay, oesteoporosis, cerebral palsy, chronic dehydration, chronic constipation, autism spectrum disorder, behavioral issues, allergies, gastroesophageal reflux and insomnia which are all managed symptomatically,” Sheila said. “Brooke has had seizures since 3 months and is on 4 different seizure medications and has a VNS implanted just to control them. Her development has been a slow and painful progress, but she always bounces back from whatever this disorder throws at her and does it with a smile on her face!”

And the smile on Brooke’s face is easy to catch. Life has given her a strong will, and a personality to prove it. And there is something to celebrate now, after all these years of trials and illness.

“Brooke is now 21 years old, has an IQ of 35 and has been seizure free for two years,” Sheila said. “We have now found many families with the same disorder and have found great comfort and support from them.”

“I have started an awareness page for Brooke to get the word out and we need you to continue to support Ring14 USA Outreach so that no other family ever has to go through the long, lonely nightmare that we did,” Sheila said. “I want to make sure that all families and caregivers can get information and we can fund critical research to assure our children have a better future that they so deserve!”

And she is right. Every child and parent of a child with this diagnosis deserves the link to information and loving support to get through each day of living with this illness. Please share this story, spread this link, and spread awareness about Ring14.

There is power in numbers, and this illness needs more support so that Brooke, and children like her, can one day hopefully have a better treatment and quite possibly a cure.

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