Best Wishes for Ella
Dec 01, 2014 03:30AM
By Jason Huddle
Ella Foard Suffers from Rett Syndrome
Nine-year-old Ella Foard has Rett Syndrome. Diagnosed in January 2008, she was two years old.
It’s doubtful that many are familiar with Rett Syndrome because it’s diagnosed so infrequently. A neurodevelopmental disorder, it affects apparently normal infants who then begin showing signs of physical impairment. Those may include seizures, trouble walking, convulsive limb movements and learning disabilities. As the disorder progresses, the child loses her ability to speak.
I say “her” because the disorder predominantly affects girls – one in every 10,000 to 15,000. They’re born with a mutation of the MECP2 gene, found on an X chromosome. This gene controls the synthesis of a protein that is needed for brain development.
The National Institute of Neurological Disorders and Stroke (NINDS) says, “If the active X chromosome that is carrying the defective gene is turned off in a large proportion of cells, the symptoms will be mild, but if a larger percentage of cells have the X chromosome with the normal MECP2 gene turned off, onset of the disorder may occur earlier and the symptoms may be more severe.”
While Rett Syndrome is a genetic disorder, it typically occurs randomly and there’s less than a 1 percent chance of passing it on or having more than one child develop it. There are also asymptomatic female carriers – those who have the mutated gene but show no symptoms.
John and Nalisha Foard have three daughters. They noticed Ella – their middle child – was no longer meeting her developmental milestones when she reached 13 to 16 months of age. “She stopped talking, was wringing her hands a lot, didn’t interact and kept to herself,” Nalisha says. “She went from knowing almost 20 words to no words. The pediatrician didn’t think anything was wrong, that each child developed differently.”
According to NINDS, this is known as Stage I: early onset. “This stage is often overlooked because symptoms of the disorder may be somewhat vague, and parents and doctors may not notice the subtle slowing of development at first. The infant may begin to show less eye contact and have reduced interest in toys. There may be delays in gross motor skills such as sitting or crawling. Hand-wringing and decreasing head growth may occur, but not enough to draw attention. This stage usually lasts for a few months but can continue for more than a year.”
The Foards say that Ella could no longer hold her bottle and became a completely different child in a short two to three months. John Foard is a Cabarrus County native and the family lived in Concord at that time. They approached a local neurologist but the first available appointment was eight months out. They were able to get in to see a neurologist in Charlotte in November 2007 and she made the diagnosis two months later.
“I remember the day Ella was diagnosed,” Nalisha says. “The doctor called me at work. She asked, ‘Can you and your husband come into my office?’ I told her I didn’t need to because I already knew what it was.”
Nalisha “knew” because, during a prior appointment, she had seen the neurologist write Rett Syndrome on her pad of paper. “I Googled it,” she says. “It was classic Ella. I didn’t say anything to John because I was hoping it wasn’t it. At that moment, we thought Ella was just delayed and we’d get her into therapy. It completely changed our lives.”
“We had no clue what it (Rett) was,” John adds. “Symptoms are different for all kids. Our daughter cannot talk to us at all, has very limited use of her motor skills and can use her right hand only. She can use her index finger and thumb to hold a Cheerio. At almost 10 years old, she’s not potty-trained. She has the cognitive ability of a six- to eight-month-old.”
Stage II of Rett Syndrome is the rapid destructive stage that usually begins between ages one and four. “Its onset may be rapid or gradual as the child loses purposeful hand skills and spoken language. Characteristic hand movements such as wringing, washing, clapping or tapping, as well as repeatedly moving the hands to the mouth often begin during this stage,” NINDS explains. “Breathing irregularities such as episodes of apnea and hyperventilation may occur, although breathing usually improves during sleep.”
At that point, Ella was still sleeping in a crib. Knowing there had to be a better, more secure long-term alternative for their daughter, the Foards looked into SleepSafe beds. Costing more than $10,000 each, they knew they’d either have to go into debt to get one or save money over time. That’s when Nalisha decided to approach Make-A-Wish® America.
According to its website, “Make-A-Wish® grants the wish of a child diagnosed with a life-threatening medical condition in the United States and its territories, on average, every 38 minutes. We believe that a wish experience can be a game-changer. This one belief guides us. It inspires us to grant wishes that change the lives of the kids we serve.”
The Make-A-Wish® Central & Western North Carolina chapter handles wishes made in the Cabarrus County and Charlotte areas of North Carolina. The now-well-known national foundation unofficially took off in Arizona in 1980 when seven-year-old Chris Greicius was losing his battle with Leukemia. His wish was to be a police officer and help catch criminals.
Most wishes are in that same vein: to be a superhero, meet a favorite NFL player, take a trip to Disney World…the Foards wished for a bed. “I approached them and then had to get a doctor’s referral before they would come out to the house,” Nalisha says.
True. There are actually four steps involved in granting a wish. Make-A-Wish® accepts referrals from the doctors, parents or the child (under age 18). Another parameter is that the child not have received a wish from another organization.
Through the referral, Make-A-Wish® ascertains eligibility. “To receive a wish, the child must be diagnosed with a life-threatening medical condition (i.e., a progressive, degenerative or malignant condition that has placed the child’s life in jeopardy),” makeawish.org says.
That’s when the wish-granter – a volunteer – meets with the family to learn what the child’s wish is and how they can help.
“At first we didn’t feel like it was right for us,” John says. “We could do Disneyland on our own and we were a little hesitant. But we called them and it was awesome.”
“Ashley (the wish-granter) came out to our house,” Nalisha continues. “She came over and brought a gift for our oldest daughter, Emma. We met for an hour or two and she thought we were crazy. ‘You want a bed?’ ”
“I think what happened was the bed was well above what they usually give, but I believe Ashley reached out to the company and they donated the bed to Make-A-Wish®. Ashley wanted to do a whole bedroom makeover on top of it…something Make-A-Wish® could contribute. Being a woman doing a room makeover for a little girl, I think she was better than a guy trying to do it,” John says.
Ella’s new room was built upon a pink and purple floral design with a new comforter set, wall panel artwork, a TV and decorative accessories.
“Our wish was approved in August 2008 and I think by August 29, we had the bed delivered in our driveway,” Nalisha says. “It’s all wood and we got these clear glass panels. Ella can see out the panels and not be scared.”
“The bed is basically an adult-sized crib,” John explains. “It’s been a lifesaver. Ella has no depth perception and could fall down the stairs. She loves her bed.”
There is no cure for Rett Syndrome and the Foards say they are unaware of anyone in their family history having had the disorder. They add that there are about 12 to 15 other families in the Charlotte area caring for a family member with Rett Syndrome.
Stages III and IV present both good and bad. Some girls show less irritability and crying. They may become more alert and attentive. Stage IV is called the late motor deterioration stage and can last for decades.
“Prominent features include reduced mobility, curvature of the spine (scoliosis) and muscle weakness, rigidity, spasticity and increased muscle tone with abnormal posturing,” NIMBS explains. “Girls who were previously able to walk may stop walking. Repetitive hand movements may decrease and eye gaze usually improves.”
“I sit on the board of directors of rettsyndrome.org. I’m actually the treasurer for them as well and they’re a great foundation,” John says. “Research says this is not a regressive disorder. Aggressive physical, occupational and speech therapies show great results in children with this disorder. With all the difficulties our child has, she’s considered to be on the mild end of the spectrum. Imagine being a parent with a child on the severe end.”
Ella receives all three of these therapies once a week for an hour, and the Foards’ typical day is clearly centered around their daughter. “We have to bathe her, feed her, change her diaper, open her mouth to brush her teeth, lift her head to put in a ponytail,” Nalisha says. “We have a 19-month-old baby and she is more able to take care of herself than Ella.
“I think it’s great that Make-A-Wish® helps children that have any condition. In 2011, I reached out to Ashley again; Ella had started hitting her head against the bed. Ashley was no longer with Make-A-Wish® and is living in Baltimore, but Amanda was able to get me padding for the bed and sent it to us for free.”
“I think these kinds of organizations are awesome and it truly shows the character of human beings,” John adds. “Make-A-wish® literally makes your wish come true. If it’s within their ability, they’ll do it. One of these days, if we find an effective treatment that will allow our children to function, we’ll probably find answers to Parkinson’s, Cerebral Palsy and Autism.’’
John has taken his appreciation of Make-A-Wish® a step further. He and Ella are in the process of becoming Wish Ambassadors. Their job? “Once in a while I would be asked to come and speak about what it was like to have a wish granted, tell Ella’s story, etc.”
The Foards are also telling Ella’s story through the Ella Foard Foundation (www.ellafoard.org), a nonprofit founded in 2009. Their goal is to create additional public awareness of Rett Syndrome in the hopes of raising funds for more research and a cure.
“The government doesn’t put much funding behind it because it’s so rare,” John says. “We do a golf tournament every year, usually in May, a week before the (NASCAR) race. We hold it in Concord because I was born and raised there.”
The 6th Annual Ella Foard Foundation for Rett Syndrome Golf Classic will take place on May 18, 2015, at Cabarrus Country Club. Participants will enjoy 18 holes of Captain’s Choice golf, coffee and pastries for breakfast, a raffle and goody bag, lunch, group photos, skill contests, a silent auction and an awards dinner. Visit www.ellafoard.org to register or make a donation.
Make-A-Wish® holds various fundraising events locally throughout the year. The Charlotte Walk for Wishes took place last month at Romare Bearden Park. Their website describes it as a “community walk to celebrate hope, strength and joy while raising funds to grant the wishes of local children with life-threatening medical conditions. Powered by the fundraising efforts of teams of family, friends and co-workers, participants join forces with Make-A-Wish® to grant wishes to some of central and western North Carolina’s bravest children.”
For more information about Make-A-Wish®, visit www.wish.org.