Sunday, December 29, 2013 —
When one first meets Braylin Furlow, the first thing noticed may be her big, bright smile.
The 4-year-old daughter of Cedric and Kendra Furlow of Oakboro is just like any other litte girl. When describing her, friends and relatives always point to the word sassy, but in a good way. Her mom said she likes to play with her baby dolls and loves to do her hair. Her favorite TV shows involve characters Dora the Explorer and Doc McStuffins.
She likes football, pro wrestling and doing just about anything with her 7-year-old brother, Kierrian. She adores music — especially Beyonce — and dancing. Her mom said a Beyonce song was the first song she ever sung and used “plain” words.
Plain words are something that at one time was so hard for Braylin to say. Words some believed she would never speak or even live long enough to say.
When she speaks now, there are many words people can understand. It is much better than when she was younger. The rest Cedric, Kendra and Kierrian can help someone understand.
In so many ways Braylin is just another charming little girl with so much energy, so much life and so many smiles.
But in other ways, Braylin is unique. Very unique. In fact, she’s almost one of a kind.
She has been diagnosed with a 2p deletion chromosome disorder. It is so rare that when she was diagnosed a couple of years ago, Kendra said she was just the sixth child in the world documented with this condition.
There are so few people with the disorder that case studies have not been done about it. Only about five children in the U.S. have the disorder. Other cases have been discovered in the United Kingdom. The rest, well, nobody really knows.
Doctors have a hard time talking about 2p deletion because they do not know much about it. Searching for information on the Web is like trying to find a needle in a stack of needles. It’s there, but there’s not much to go on.
And that makes Braylin unique. And a special child not only to her parents, brother, family members and friends, but also to those who are trying to learn more about 2p deletion.
“When we first found out about it, we were like ‘What is that?’ Nobody knew what to tell us. ‘What is 2p?’ ” Cedric said.
“It was like the waiting game until somebody gave us a definite answer on what it was. We accepted that’s what it is, now let’s get to what it does.”
“Then we found out she was the sixth child. Finding out then, finding out how rare it is, it was scary because they didn’t know what was going to happen to her because every case is so different,” Kendra said.
Unique Describes It
Unique is an organization based in the U.K. which deals with information and support for families and individuals affected by rare chromosome disorders. It describes a 2p deletion as when someone is missing a part of the second of the 46 chromosomes each person contains. Chromosomes hold DNA, the genetic material that gives each person their basic characteristics.
Half of each person’s chromosomes come from their father the other half from the mother. When a sperm and egg unite, each carries those chromosomes. A person’s cells then make copies of itself many times over in the process that leads to human development.
Having a 2p deletion means a person has one chromosome 2 intact but another missing, deleted or not intact. Missing part or all of what is considered the second most important chromosome in our bodies means a person’s learning or physical development is hindered.
That can lead to vision problems. Braylin wears glasses. It also leads to seizures, which Braylin has had. She has had other conditions where her normal growth process compared to other children her age is slowed. Other conditions may happen soon or well down the road. But nobody knows for sure.
According to Kendra, Braylin is missing the bottom part, the long part, of her No. 2 chromosome. Her No. 4 chromosome is also split in half, the top part of No. 4 attached to the top part of No. 10 and the bottom part of No. 4 attached to the bottom part of No. 10.
“When you look at her, you don’t see anything,” Kendra said.
“But she’s not able to run like the other children her age, climb, jump, things like that.
“She does have a few medical problems. When she was younger, I did take almost a year off from work to stay at home with her and make sure she was getting what she needs. She was at speech, physical therapy, occupational therapy … a lot of therapy is involved.”
There are different types of 2p deletion, at least 14 according to Rarechromo.org. There are also at least 36 known symptoms listed by Rightdiagnosis.com that can help determine if a child has the condition, anything from a narrow forehead to missing teeth, speech, growth, motor and mental retardation.
So it is hard to say where Braylin’s path leads next. She’s now going to school and learning like any other four-year-old.
“When you talk to rare parents and patients, they are not focused on a cure but treatment,” said Carrie Ostrea, advocacy director and parent advocate for the Global Genes | RARE Project, which works to create a stronger voice in the rare disease community.
“A rare parent is different from a parent who has another complex medical situation like Down syndrome or autism.”
Ostrea also has a child with a rare chromosome disorder.
“For families like Kendra, there is no local support system,” Ostrea said.
“There’s no way to say, ‘Can I sit down with parents who have a similar thing?’
“These families need support. They don’t have celebrity support with hundreds of thousands of dollars. Knowledge is power and strength. You get strength, you need to find answers. It’s a very tough road.”
Of A Problem
Braylin was 4 months old when she had her first seizure. She was with Kathy Hinson in the infant room at Quality Child Care in Oakboro.
“She had a seizure in my lap, and I just went to pieces,” Hinson said.
“I said ‘Somebody call 9-1-1, somebody call Kendra.’ ”
Kendra rushed Braylin to Stanly Regional Medical Center and tried to get up with Cedric to tell him what had happened.
“She told me Braylin had a seizure, and we are taking her to the hospital,” Cedric said.
“My mind was just going … that’s my baby girl. As a man, you’re thinking, that’s my only baby girl. Gotta get to my baby girl. It was confusing.”
The visit to the hospital led to a trip to Levine Children’s Hospital in Charlotte. Two months later, they found out Braylin had a developmental delay. In 2011, at age 2, she was diagnosed with 2p deletion. That was after numerous visits to neurologists, seeing other specialists, doing bloodwork and hours of anticipation and uncertaintity.
“Kendra became scared and withdrawn,” Hinson said.
“Nobody wants to hear something’s wrong. The baby smiled during the whole thing. That’s the one thing I love about Braylin. What she goes through, she smiles and her smile will warm you to the bone. She is just full of life.
“But it was hard on Kendra and Cedric with all the doctor bills, running her to the neurologist, get all this testing and going to different places. It was hard on the family. Kierrian had to either stay with family or go with his parents. It wasn’t just the couple and the baby. Kierrian was affected, too
“But they keep a positive outlook. Kendra is a positve person. Cedric is pretty positive, too. With all the love and support of family and friends and church, it helped them to be positive. I think that helps and is why Braylin has such a hope in her life.
“It’s why she’s so positive. She’s been nurtured in positivity. You have all those things and tubes connected to your head and she's still smiling.”
But it didn’t all come so easily.
“When our friends found out, we did lose people,” Kendra said.
“We lost family members and we lost friends. They were afraid to keep Braylin.
“We didn’t have babysitters. They were afraid something was going to happen. The people that left, we just let them leave and the people that actually cared, we kept close to us.
“(Godmother) Chancey (Powe) was one of those. She’s one of the only people that will babysit my children. We’ve had to take (Braylin) all the way to Fayetteville to do stuff in Stanly County.
“The people that love her really, really love her. That means so much to her. Like I tell everybody, if you can’t take her how she is, I don’t want you around her. Don’t get our hopes up and then leave her.”
Powe worked with Kendra at Quality Child Care before moving with her husband to Fort Bragg. She’s watched Braylin and Kierrian several times.
“It hit me in a million different ways (learning about Braylin),” Powe said.
“As a mother of two … my heart broke in a sense and then also didn’t worry because seeing Kendra and Cedric, I can’t put into words the kind of parents they are. They are extraordinary.
“I knew it was going to be a process, but I guess I never worried about it. Braylin is a sassy little girl. She doesn’t hold back from anything. You know without a shadow of a doubt what she’s feeling, if she’s mad, if she’s happy.”
Cortney Davenport has a bachelor’s degree in birth to kindergarten education. She worked with Kendra and is a close friend to the family.
“I’m someone she can talk to and melt,” Davenport said.
“She would tell me things and if Braylin was having any issues like seizures or things like that.
“Being able to talk about it is very helpful. You don’t necessarily get answers, but you get it off your chest.”
Someone else who has been a big helper to Braylin is Kierrian. He also likes wrestling and football and enjoys reading and really likes super heroes, mainly Spiderman. He turned 7 on Monday.
But he also loves his sister and has helped her in many ways, supported her and even defended her.
“From an early age, when we found out, we’ve always taught him to protect her. Protect Braylin,” Kendra said.
“One day we were at Walmart or something and someone came up and said ‘What’s your name?’ At the time, (Braylin) wasn’t speaking anything, but she was making sounds and she was trying to say her name.
“They were like ‘What did you say?’ He said, he was 4, he said, ‘My sister doesn’t have words like I do so I’ll tell you her words. Her name is Braylin.’
“He does that a lot. If someone says, ‘Your sister can’t talk,’ he’ll say, ‘Yes she can. She just doesn’t have words like we do.’ ”
But she’s learning those words, and at a rapid pace. She’s seen Nicole Spruill, a speech therapist who works in Concord. Spruill originally saw Braylin twice a week at Stanly Regional. Now she has had visits once a week for the past six months.
“She has progressed extremely with speech therapy,” Spruill said.
“When I originally saw her at Stanly, she only had two or three words. Now her vocalubary is huge. The main thing about her speech is understanding what she’s saying.”
Braylin has esophoria, which has hampered her speech development. Spruill said Braylin has slow muscle movement and decreased muscle tone in her tongue. That’s why she can’t articulate sounds.
Spruill has worked with Braylin to strengthen her tongue and to teach her words she can learn. Kendra has also helped, and the progress has been remarkable, Spruill said.
“Now her vocabulary is … I can’t even measure how many words she has,” Spruill said.
“The main thing is articulating those sounds.
“Everything I work with with Braylin, her mom actually re-enforces at home. I’ll teach Braylin her vocalubary words and she’ll come back next week and remember at least 25 percent of what we went through. Learning wasn’t difficult, it was articulating.”
So the road hasn’t been an easy one to travel. But the Furlows can tell Braylin’s progress just by seeing her smile. It reinforces their faith in her and gives them hope.
Meredith Haigler was Braylin’s pre-k teacher at Stanfield Elementary School.
“She definitely has spunk,” Haigler said.
“She’s real quick to warm up to people. She's very affectionate.
“She loves to hug and is a very happy child. She’s very involved with other kids and enjoys interacting with them on a daily basis. She looks a little bit different but smiles just like any other kid, laughs like any other kid.”
Kendra has been a part of the Global Gene Project and hopes to create more awareness about chromosome disorders through a special project called World Rare Disease Day. It will be Feb. 28 in countries around the world, including the U.S.
People are encouraged to wear their favorite jeans to recognize the day and help create awareness.
“Our goal with Global Genes is to take advantage of social media so that if (knowing someone else who may have a chromosome disorder) isn’t in your neighborhood, they can contact someone in California or another place,” Ostrea said.
Kendra and Cedric will have their third child in the coming weeks. The baby, a little boy, has been through a number of tests and ultrasounds and appears to be healthy and ready to come into the world.
Like Braylin, Cedric said this one is a fighter, too.
“I just think it takes somebody so strong-willed to carry on because I can’t say I could do this if I were in her situation,” Powe said.
“They don’t sit around and feel sorry for themselves or Braylin. I think that’s what’s so great. Braylin doesn’t know she’s any different. She has no clue. I don’t think it’s because of the therapy. It’s because of Kendra and Cedric. It’s the way they parent.”
“I’m from a background of fighters,” Cedric said. I see us creating more fighters. That’s a fighter. (The baby they will have) is beating (Kendra) up now. That right there (Braylin), she’s a fighter.”
“But through everything she’s been through, she always ends up with a smile. For me, if I don’t see her smiling, I know something is wrong. She’s fought through everything she’s been through and she smiles at the end of it, no matter what.
“As long as I know she’s smiling … bring it on. I don’t want nothing else, but as long as she’s being Braylin, I’m OK. I’m A-OK.”
For more information on the Furlows and the Global Gene Project, contact Kendra at braylinsvoice@ yahoo.com.
To submit story ideas, contact Jason O. Boyd at 704-982-2121 ext. 21 or email at jason@stanlynewspress. com.