LOGAN — Having children is one of the greatest joys in our lives but the idea of losing one at a young age has to be the hardest thing that any parent should have to endure.
Adam Roop and Stacie Roop’s four-year-old daughter, Kyndel, has been diagnosed with Batten’s Disease. She is the granddaughter of Brian and Angela Robertson and Anita Auker Roop and Marty Roop, all of Logan.
She is an adorable little girl who especially loves bubble wands, snacks and her big brother, Easton Roop, who is a typical, active six-year-old that helps to watch out for his sister as well. Kyndel also loves the staff at Green Elementary where she attends preschool, and receives multiple therapies including physical, occupational and speech.
Many local folks may be familiar with Batten Disease because Westley McKinley, son of Willie and Tracee McKinley of Logan, was diagnosed with the disease when he was four years old. Westley will turn 13 in August. According to Westley’s mother, he is still chugging along and hanging in there but he is currently bed-ridden, has fragile bones and it takes two people to lift him from his bed to a chair.
“We still try to take him places and of course still travel to Cincinnati to the doctor. Although he is blind and non-verbal he manages to growl at us when he doesn’t want to do something such as allowing us to dress him, but for the most part he is pretty agreeable and even smiles at us on occasion when we are talking to him.
“They have made great strides in the treatment of Batten’s Disease so we are hoping that Kyndel’s treatments will slow the progression of the disease and the journey will go a little smoother,” Tracee said tearfully.
According to National Institute of Neurological Disorders and Stroke (NINDS), Batten Disease is a fatal inherited disorder of the nervous system that begins in childhood.
Batten Disease is named after the British pediatrician who first described it in 1903. Also known as Speilmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called neuronal ceroid lipofuscinoses (NCLs). Although Batten Disease is usually regarded as the juvenile form of NCL, some physicians use the term Batten disease to describe all forms of NCL.
There are three other main types of NCL, including two forms that begin in earlier childhood and a very rare form that strikes adults. The symptoms of these three types are similar to those caused by Batten disease, but they become apparent at different ages and progress at different rates.
• Infantile NCL (Santavuori-Haltia disease) begins between six months and two years of age and progresses rapidly. Affected children fail to thrive and have abnormally small heads (microcephaly). Also typical are short, sharp muscle contractions called myoclonic jerks. Patients usually die before age five, although some have survived in a vegetative state for much longer.
• Late Infantile NCL (Jansky-Bielschowsky disease) begins between the ages of two and four. The typical early signs are loss of coordination (ataxia) and seizures that do not respond to drugs. This form progresses rapidly and ends in death between the ages of eight and 12.
• Adult NCL (Kufs of Parry’s disease) generally begins before the age of 40, causes milder symptoms that progresses slowly, and does not cause blindness. Although age of death is variable among individuals, this form does shorten life expectancy.
Westley was diagnosed with late infantile neuronal ceroid lipofuscinosis (NCL), which as noted usually strikes between ages two and four and results in death from the age of eight to 12. Unfortunately, Kyndel has received the same diagnosis.
Perhaps our readers are wondering what causes this awful disease? The gene called CLN2 lies on the chromosome 11. CLN2 disease is an inherited as an autosomal recessive disorder, which means that chromosomes carry mutations in the CLN2 gene, and both parents are unaffected carriers. It was learned that children with CLN2 are born with this condition even though it make take months or years before they start showing signs.
Everyone has two copies of the CLN2 gene and in people who are diagnosed with CLN2 disease, both inherited genes (one each from each parent) have mutation in one of their CLN2 genes. Parents are carriers of the genetic mutation which means they are healthy but can pass on the mutation to their children.
If both parents carry the mutation and have a child there is a 25 percent chance that the child will inherit both mutations and be affected by CLN2 disease and experience symptoms, while a 50 percent chance the child will be healthy but they also carry the one mutation for CLN2 disease and 25 percent chance the child will not carry any mutation for CLN2 disease and will not be diagnosed with the disease.
The gene which was discovered in 1998, normally directs production of a lysosomal enzyme called tripeptidyl peptidase1 or TPP1. A deficiency of TPP1 results in abnormal storage of proteins and lipids in neurons and other cells and impaired cellular function. The cells cannot function as they should and symptoms develop.
There are lysosomes inside every cell and the lysosomes contain enzymes that break down and recycle materials in the cell and one of these enzymes is called TPP1. In children diagnosed with CLN2, the TPP1 enzyme is missing or does not work properly and if that is the case, certain materials build up in the lysosomes of cells, particularly cells in the brain and eyes.
The diagnosis can be confirmed through genetic testing which looks for mutation in a DNA sample collected from the child, while a CLN2 diagnosis can also be confirmed through enzyme testing which looks for low levels of the TPP1 enzyme. CLN2 disease is a type of lysosomal storage disorder that affects cells in the brain.
Another question that lingers on people’s minds is how does the disease progress? Children appear to be healthy and develop normally for the first few years of life but towards the end of the second year, developmental progress may start to slow down, for instance children may be slow at talking or walking. That is exactly what Kyndel’s parents noticed was the first sign that she may be having developmental issues.
Since Stacie is employed as a program coordinator at Hocking Valley Industries and works with folks with disabilities, they began to suspect that Kyndel may have developmental delays.
“We noticed that she seemed to be slow at walking and talking and in February of 2018 she had her first seizure which we thought was due to the fact that she had experienced a high fever.
“Of course we rushed her to the emergency room where she was given medication to treat the fever but unfortunately the seizures persisted even after the high fever subsided. In March of last year she was diagnosed with generalized seizures followed by an epilepsy diagnosis in June,” Stacie explained.
According to the Batten Disease Support and Research Association, the first definite sign of the disease is usually epilepsy. Seizures may be include drops which are vacant spells or motor seizures with violent jerking of the limbs and loss of consciousness. Seizures may be controlled by medicines for several months but always recur, becoming difficult to control.
Children tend to become unsteady on their feet with frequent falls and gradually skills such as walking, playing and speech are lost. Children become less able and increasingly dependent for their everyday needs. By four or five years old, the children usually have myoclonic jerks of their limbs and head nods.
They may have difficulty sleeping and become distressed around this time, often for no obvious reason. Vision is gradually lost and by the age of six years and most will be completely dependent on their families for all of their daily needs. The patient may need a feeding tube inserted and their arms and legs may become stiff. In addition, some children get frequent chest infections and death usually occurs between the ages of six and 12 years but occasionally later.
In February 2019, Kyndel, received a Lennox-Gastaut Syndrome (LGS) diagnosis which is a complex, rare and severe childhood on-set epilepsy. It is characterized by multiple and concurrent seizure types, cognitive dysfunction and slow spikes in electroencephalogram. Typically, it appears in children three to five years old and can persist into adulthood. The prognosis for LGS is poor with five percent mortality and persistent seizures into adulthood.
“But we still thought something else was wrong because her seizures were more frequent, she lost the words that she had been able to speak previously, walking was becoming more difficult and her gait appeared very awkward — so we requested further genetic testing,” Stacie added.
As a result of the expanded genetic testing, it was on April 2, 2019, that Kyndel was diagnosed with the Batten Disease and given the fatal diagnosis. Fortunately, Kyndel is being treated at Children’s Hospital in Columbus under the care of Dr. Emily de Los Reyes, who is neurologist and a Batten’s Disease expert.
On April 22, Kyndel underwent surgery to place a port under her skull so that she could receive enzyme replacement treatments which are designed to slow the progression of the disease and will hopefully allow her to retain her motor skills keeping her mobile for the time being.
“She will receive the enzyme replacement treatments every two weeks for the rest of her life. The hope is that the treatments will delay the progression of the disease. For instance, we are hoping the treatments will perhaps allow her to be mobile for possibly a year longer before she would be confined to a wheelchair,” Adam stated.
The parents said that they love Dr. Emily at Children’s Hospital and more importantly Kyndel loves her too.
“Since she is so young and knows no other way of life — so she has done a great job while undergoing surgery and enduring the treatments. Fortunately, she is blessed to have a high pain tolerance which helps with the necessary surgeries and treatment sessions too,” they admitted. The treatments include four hours of infusion therapy — where they inject the enzymes that Kyndel is lacking directly into her brain. Stacie said that this type of treatment for CLN2 was just approved by the FDA two years ago — so unfortunately the enzyme therapy treatments were not available at the time for Westley.
Adam is head mechanic with the Logan-Hocking School District so he has good health insurance but of course with lifelong treatments, the cost of surgery and treatments can exceed the costs covered by insurance benefits.
To assist with additional medical expenses, a Truck and Tractor Pull Benefit will be hosted at the Hocking County Fairgrounds Saturday. According to Adam, the gates will open at 9 a.m. and the competition is scheduled to begin at noon. Adam said that the truck and semi entry fee is $25 per hook, while admission fee is $10 per person and children under the age of 10 are admitted for free. Food and beverages will be available to purchase during the event.
The classes for the truck and tractor pull includes 6000# Street Stock gas; 6200# Cheater Stock gas; 6200# Light Pro Stock; 8000# 2.5 and 2.6 Smooth Bore combo diesel; 8000# Street Diesel; 8000# Work Stock Diesel; 8000# Run what you brung; Street Semi, Hot Semi and 9500# Pro Farm Tractors.
Adam noted that in the event of rain, the event will be hosted on Memorial Day, Monday, May 27. For additional information, contact Bubba at 740-216-0150 or Adam Sudlow at 740-270-9115.
If folks are unable to attend the truck and tractor pull, a second event is being planned by classmates of the Logan High School Class of 2004 — which is the year that Stacie and Adam graduated from high school as well.
The Kyndel’s Kure Benefit/Cook Out will be hosted at The Logan Eagles #2168, located at 75 E. Main Street, on June, 22. The event will include hamburgers and hot dogs donated by the Eagle’s organization, while a Chinese auction, 50/50 drawing will be conducted and disc jockey Rhyno will be on hand to provide entertainment for the guests.
The doors will open at 4 p.m., with auction drawings slated at 6 p.m., hamburgers and hot dogs and side dishes will be served at 5 p.m., for a $5 fee and Rhyno will play tunes from 4 to 7 p.m. Parking is available in the Hocking County Courthouse parking lot.
The Roops also mentioned that monetary donations can be made to Kyndel’s medical at Hocking Hills Banking Center or through PayPal at Kyndelroop@gmail.com.