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“I felt isolated and alone because none of our family or friends had ever heard of 22q. I decided early on that I wanted to be an advocate for Bennett and for others like him.”—Darla Legnon Louviere, Bennett’s mom
Shedding Light On A Rare Genetic Disorder
By Cheryl Robichaux
Even though he struggles daily, Bennett Louviere is the happiest little boy you could ever meet. His strength and courage never cease to amaze his mom, Darla Legnon Louviere. Darla and her husband, Jerry, have six children and six-year-old Bennett is their only son. The Louvieres were selected to be the March of Dimes Ambassador Family representing New Iberia for 2012.Together the family participated in the annual March for Babies held April 28 at City Park to help in the fight against birth defects. The Louviere girls are Lacee, 20;Lindsey, 14; Logan, 12; Londyn, 9 and Lillian, 3.
22q11.2 Deletion Syndrome.
The first four Louviere children were born healthy with no issues, and when Darla delivered Bennett, he looked just like any other beautiful baby. However he had difficulty breathing and spent eight days in the Neonatal Intensive Care Unit. During his first 3 months of life, he was hospitalized three times for upper respiratory distress and pneumonia. At 3 months old Bennett was transported to TexasChildren’s Hospital in Houston, where he was seen bymany specialists. They suggested a blood test for 22q11.2 Deletion Syndrome. The test was positive.
“I felt isolated and alone because none of our family or friends had ever heard of 22q,” says Darla. “I decided early on that I wanted to be an advocate for Bennett and for others like him.”
Creating a bit of confusion over an already little-known disease, there are several different names for the same condition. Older terms for 22q include velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome. The rare disorder is caused by the deletion of approximately 40 genes on the 22nd chromosome. In most cases, it is a new or spontaneous mutation, although it canalso run in families. Both of Bennett’s parents were tested and their results were negative. The syndrome manifests in about one of every 2,000 births.
Among the various symptoms associated with 22q are heart defects, feeding and gastrointestinal difficulties, immune system deficits, growth delay, palate differences, kidney problems, hearing loss, low calcium and other endocrine issues, cognitive and speech delay, behavioral, emotional and psychiatric differences.
Bennett’s symptoms include the characteristic facial features, immune deficiency, speech and developmental delay, tooth enamel damage, hearing loss, foot and leg pain, obstructed sleep apnea, obsessive-compulsive disorder and growth delay, to name a few. Common facial features attributed to 22q are a rounded nose tip, widely spaced eyes with narrow eyelids, small mouth and chin, flat cheekbones and round low-set ears.
When he was an infant, Bennett slept in a baby swingat night instead of a bassinet or crib. “He’d toss and turn if we laid him in the crib,” says Darla, “but he peacefully slept in the swing during the day, so we let him sleep like that at night so he could get some rest.” Today his twin bed is right beside his parents’ bed. He suffers from obstructed sleep apnea and must be connected to an apnea monitor at night. The monitor feels the rise and fall of his chest, and if he does stop breathing, a loud beep alerts his parents. He kicks during the night, sometimes gasping for breath. According to Darla, “His jaw is too small and his tongue will fall back into his throat. He has had eightsurgeries and we are currently planning his ninth for a lower jaw mandibular distraction.” This type of surgery will increase the jaw size and allow it to grow in proportion to the rest of his face.
Miracle Flights for Kids®
Before giving birth to Bennett, Darla taught pre-school at Highland Baptist Christian School and had a daycare in her home. Blessed with patience and a love for children, she’s always enjoyed the pitter-patter of many little feet in her home. Because of Bennett’s condition, Darla is now a stay-at-home mom except for the many medical trips she has taken. She and Jerry have traveled with Bennett to New York, Dallas and Detroit looking for answers about 22q.While they are away, Darla’s mother watches theirchildren.
On behalf of her son, Darla petitioned the non-profit organization, Miracle Flights for Kids® and the family has been flown several times to Dallas and New York for free. The organization flies seriously ill children all over the country to receive proper medical care and to get second opinions. Visit miracleflights.org to read Bennett’s story on the site.
Other Rare Abnormalities
Along with 22q, Bennett has been diagnosed with two other rare abnormalities: congenital nasal pyriform aperture stenosis (CNPAS, narrow nasal passage) and solitary median maxillary central incisor syndrome (SMMCI, one front tooth).
Most adults have two maxillary central incisors. Bennett has only one. The family calls it his “special tooth” and there’s even a support group on Facebook called “One Tooth Wonders.” All three abnormalities are rare, and it’s even more unusual for a child to be diagnosed with all of them. Dr. Alison Rader is Bennett’s pediatrician and Dr. Jose Mata is the family’s physician. They refer Bennett to specialists and have been very instrumental in the progress he has made. Currently he is the only child in New Iberia with 22q. Bennett received a hearing aid last year and today his health care is being supervised by a geneticist who understands the treatments relating to this disorder. In addition to the geneticist, he sees an ear, nose and throat specialist, plastic surgeon, pulmonologist, speech therapist (four times weekly) and physical therapist (twice weekly).
After Bennett, Darla wasn’t supposed to have any more children. But along came Lillian who was born three months prematurely, weighing only 2 pounds. Because she wasn’t fully developed, Lillian had to stay in the hospitalfor the first two and a half months of her life.
“Every child should not be denied the right to have everything functioning as it should,” stresses Darla. “Lillian was born early not because of her health issues, butbecause of mine. She had a great start because of the March of Dimes. They knew what to give her to help her blood, iron levels, heart, lungs and other organs develop.” Darla pauses for a second. Her eyes light up as her mouth spreads into a smile. She adds, “Everybody says Lillian came to help Bennett speak and play normally. They’re 22 months apart and she gives him a run for his money.” 22q and 22 months apart? Probably not a coincidence.
Darla served as an event awareness coordinator for the second annual “22q At The Zoo” which was held at the Audobon Zoo in New Orleans on April 22. The Worldwide Awareness Day event was held to create a network for families of children with 22q. Zoos all over the worldparticipated on that same day.
In addition to raising global awareness, Darla is pushing for the FISH test (fluorescence in situhybridization test which detects 22q) to become mandatory in every newborn screening. While there is still no cure for 22q, early detection is crucial for proper treatment.
In the fall Bennett will enter kindergarten at Dodson Elementary School in New Iberia. His speech level is about that of a 2 year old because of the way his submucus cleft palate interferes with his vocal capacity. His younger sister, Lillian, understands him the most and she speaks for him sometimes, telling his parents exactly what he needs. Bennett’s social skills have improved and he absolutely loves riding in a car, fishing and flying in an airplane.Thankfully he doesn’t have the heart issues that are normally associated with 22q.
What’s the long term prognosis for Bennett? On the national level Quinn Bradlee, 30, has become a prominent advocate in raising awareness of 22q. He is the son of famed Washington D.C. journalists Ben Bradlee and Sally Quinn. As the Chairman/CEO of his own social networkingwebsite, FriendsOfQuinn.com, he has devoted his life to sharing his experiences and helping others with learning differences by writing a regular blog and answering users’ questions.
Quinn was born in 1982 with a hole in his heart andsuffered complications over the years ranging from seizures to problems with memory, speech and social development. When he was 14, doctors finally gave a name to his series of disorders, VCFS, or 22q. Quinn says, “I am no stranger to these difficulties because I have learning disabilities, or as I like to call them, learning differences.” In addition to 22q, learning differences such as ADD and ADHD, Autism and Aspergers, Dyslexia and others are covered on his website.
Darla reached out to Quinn and he interviewed her over Skype, asking many questions about Bennett. “My family and friends watched me in the video, but they really focused on Quinn so that they’d have an idea of what to expect when Bennett grows up,” says Darla. This video as well as many more featuring Quinn can be found on YouTube.com. Adults that do have 22q can lead normal lives, go to college, have good jobs and get married. Quinn and his wife, Pari, a yoga instructor, move in affluent circles in Washington D.C., and they have been photographed at parties with celebrities such as Kanye West.
Darla joined the Louisiana 22q/VCSF Support Network and councils other parents when their child is first diagnosed. The 22q support group shares email addresses and phone numbers of both families and physicians familiar with the disorder.
Bennett’s mom says, “When you find a doctor who has knowledge and has treated your child successfully, you want to share that information with other families. You are always your child’s best advocate.”
Editor’s Note: To contact Darla Legnon Louviere or become involved in the Louisiana 22q/VCFS Support Network, email her at firstname.lastname@example.org.