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Monday, June 6, 2016

Northern Kentucky Family Thankful for Rett Syndrome Clinic at Cincinnati Children's Hospital and Medical Center

Nine-year-old Gabby Rodriguez is being treated for Rett Syndrome at Cincinnati Children's Hospital and Medical Center, home to one of the few clinics in the nation.

Nine-year-old Gabby Rodriguez loves to swim—so much so that one of the main reasons her family moved to a ranch house, in October, was because it had a pool. She loves to swing at the park and go on long walks with her Paw Paw. She loves to watch Disney Junior and ESPN with her Papi—her dad. "She loves any kind of food there is, especially anything her grandparents, Maw Maw and Lali, cook," says her mother, Jody Rodriguez. "She loves Five Guys Burgers and Fries, too. She gets excited to eat all the time." 

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Gabby also loves school, and will be attending fourth grade at White's Tower Elementary School in Independence, KY, this fall. And while she's doing great right now—"she's very healthy and very happy, that is what we choose to focus on," Jody says—there are challenges in her life due to Rett Syndrome. But luckily for the Rodriguez, and many others, there is a Rett Syndrome Clinic right across the river, at Cincinnati Children's Hospital and Medical Center.

"There are so many people who have never heard of Rett Syndrome," Jody says. "It is really so complex I find the easiest way to explain it to people is that it is like having cerebral palsy with a severe autism." 

While Gabby Rodriguez requires constant care, she goes to school and enjoys many activities other children her age enjoy.

 While many of Gabby's interests and activities are typical for her age, she does require constant care. At school she has a special classroom with a teacher, aides and therapists, who work with her and other children with developmental issues. She will put inedible objects in her mouth, thinking they're food, and she'll grab food and drinks that don't don't belong to her. While she can eat some finger foods on her own she can't use a spoon or fork, so she needs assistance prepping her food and feeding herself.
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"She has to be kept under close supervision, especially when outside or in an open area because she will run," Jody says. "For example, she does not know not to run in in or down the street or away from the person that is watching her. She has no speech so communication can be difficult at times. She uses a lot of eye gaze to communicate, but if something is causing her distress or pain, it can be difficult to figure out what is upsetting her." 

Gabby also needs help getting in and out of cars, up and down stairs, and sometimes while navigating uneven ground. She needs full assistance in everyday tasks such as bathing, getting dressed, brushing her hair and teeth, and changing diapers. "Gabby is mobile, which is a blessing," Jody says. "More than half the girls [with Rett Syndrome] cannot walk. Gabby moves a log, jumping up and down in her bed or on the couch, especially when she is exited. She has constant hand wringing, which is a hallmark of Rett Syndrome. She has a lot of energy, but is becoming a bit more calm as she gets older." 

Dr. Shannon Standridge, a pediatric neurologist and co-director of the Rett Syndrome Clinic, says Rett Syndrome affects how the brain functions and leads to challenges in communication, speech, walking and use of hands. It also commonly causes heart, lung, musculoskeletal and gastrointestinal systems to dysfunction. "Although the syndrome typically presents in a severe way with loss of milestones as a child, inability to effectively communicate and significantly slowed gross motor development as well as dysfunction of other organ systems, the child eventually will reach a plateau of the loss of skills," Dr. Standridge says. "With time, intense therapies, and persistent guardian involvement, a child with Rett Syndrome may be able to learn ways to communicate, gain some hand functioning, and actively engage in the day-to-day living activities." 

Gabby lives with her mother and father, Willie Rodriguez, and five siblings—Alexes (14), Willie (10), Sofia (11), and Antonio and Emilio (both 6)—in Taylor Mill, KY. Jody grew up in Fort Thomas. Her parents still live in Fort Thomas, on Montvale Court, in the same house they bought in 1975. And Jody works in Fort Thomas for her brother's company, Persevere Produce

CCHMC's Rett Syndrome Clinic has allowed Gabby Rodriguez to receive top-notch care, says Jody Rodriguez, Gabby's mother.

When Gabby was first diagnosed with Rett Syndrome, CCHMC's Rett Syndrome Clinic didn't exist. But upon opening in 2013, Jody says, "Oh my, it has changed our lives! We love it."  

Dr. Standridge says there are more than 15 Rett Syndrome Clinics throughout the country. "Our goal is to be the premier comprehensive leader in treating the medical and neurological needs of children with Rett Syndrome in a multidisciplinary clinic leading to improved medical care, quality of life and research that will ultimately change the outcome for our patients and their families," Dr. Standridge says. "Similarly to all other Rett Syndrome clinics across the globe, we all hope for and are motivated to find a cure."

Multidisciplinary means there are a core group of disciplines involved—neurology, developmental pediatrics, gynecology, transition medicine, social work, nutrition, occupational therapy and speech therapy. "Additionally, in order to care for other important medical concerns in children with Rett Syndrome, we have developed care management relationships with other providers such as orthopedics, pulmonary, gastroenterology and cardiology to help families navigate this care together." 
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Jody says that anyone who has a child with complex medical issues understands the amount of doctor and therapy appointments can be overwhelming. "Now with the Rett Clinic it is one visit where Gabby gets to see numerous doctors and therapists, and it takes some of the stress [away] of running from here and there," she says. "They will even schedule any testing that may come up that day when we are at CCHMC so we can get everything done the same day, which makes it really, really nice." At Gabby's last appointment at the clinic she saw her neurologist, developmental doctor, nutritionist, speech and occupational therapist. She also got her spinal x-ray, EKG and blood work done—all in one visit. "It's amazing," Jody says. "We are beyond blessed to have this caring, knowledgeable team at CCHMC. ... They are so invested in these girls and have provided top-notch care."

Jody says that even before the Rett Syndrome Clinic was developed, CCHMC was instrumental in Gabby's care and diagnosis. "Dr. Susan Wiley saw Gabby in an evaluation through New Perceptions, another amazing agency, and saw that Gabby was clapping her hands," Jody says. Gabby had been tested for various disorders int he past, but all the genetic testing and blood work had come back OK. "After seeing Gabby, Dr. Wiley decided to get Gabby tested for the specific mutation on the MECP2 gene because she had seen some patients with this."

The blood work revealed that Gabby had Rett Syndrome. "Devastating, yes, but we had our answer," Jody says. "We are extremely grateful to live right across the river." 

Jody has spoken with numerous families at the Rett Clinic and many drive hours to be seen by the Rett Clinic staff. It takes Jody back to 2009, when she had Twin to Twin Transfusion Syndrome while pregnant with Antonio and Emilio. "I was in need of emergency surgery and only seven places in the entire world at the time did the specific surgery I needed," Jody says. CCHMC was one of them. "They saved my twins lives. Without the surgery they would not have survived."

After the surgery Jody was transferred to Good Samaritan Hospital, where she stayed for eight weeks, on bed rest—her other four children at home with her husband and other family members helping. "Talk about being grateful and blessed," Jody says. "I met several women that had come across the country for the surgery. I cannot imagine going through the fear of losing your twins, needing surgery, and then to be far away from home and from family and friends."  

Although few Rett Syndrome Clinics exist in the country, Jody says it's not as rare as one might think. "I thought it was when Gabby was first diagnosed, and a lot of people think that because people have not heard of it," Jody says. "The worldwide prevalence rate ranges from 1:10,000 to 1:23,000 live female births. So it is two to three times more common than PKU, which every newborn in the United States is tested [for]." 

Jody says Rett Syndrome is often misdiagnosed as autism or cerebral palsy, and that the discovery of the MECP2 gene, which when mutated causes Rett Syndrome, only happened in 1999. "One of the unique things about Rett Syndrome is that these girls—it almost exclusively occurs in girls because the MECP2 gene where the mutation occurs is on the X chromosome—develop for the most part normally for the first six months," Jody says. "The skills can start to slow down and they even stop developing skills. Regression follows where they lose communication skills and purposeful hand movement." 

A cure is possibly on the horizon.

"They have reversed symptoms in mice and have even started human clinical trials," Jody says. "The most exciting news is one of the medication trials for trofinetide (NNZ-2566) is going to be held at CCHMC. The specific dates have not been announced but we are waiting with excitement for the possibility that Gabby may have to be part of this study." 

Gabby Rodriguez's family is hopeful for a cure.

In the meantime, Jody says she and her family are so thankful for the many receptionists, nurses, therapists, nutritionists and doctors who have impacted Gabby's life. "They have helped her live a quality life and helped her work to her full potential while staying healthy," Jody says. "Dr. Patricia Manning-Courtney [co-director of the CCHMC's Rett Clinic], her developmental and behavioral doctor, and Dr. Shannon Standridge, her neurologist, are the two main reasons for the Rett Syndrome Clinic. They advocated for our girls and made it happen, and so many others jumped on board. I am forever grateful to them for everything they have done for Gabby. They are amazing doctors whom have shown their patients and families so much compassion and love, of course, along with their incredible knowledge and care. The International Rett Syndrome Foundation has a Strollathon every year as a fundraiser for Rett Syndrome research. The doctors and therapists attend—how awesome is that? They truly care for these girls."

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