A cure for Sawyer: Local family battles rare illness

Published 7:00 am Saturday, January 31, 2015

faith: Sawyer has been diagnosed with a rare illness known as Menkes syndrome.   Photo submitted

faith: Sawyer has been diagnosed with a rare illness known as Menkes syndrome.
Photo submitted

The first year of a newborn’s life is marked with many milestones such as their first smile, laugh and giggle. After a few months, babies will roll over, hold their heads up, all as a prelude to their first steps.
However, for some infants, reaching these milestones might take a bit more time.
In Pearl River County, there is a blue-eyed, fair-haired, smiling 6-month-old named Sawyer Jarrell.
In October of 2014, he was diagnosed with Menkes syndrome, a rare disorder that alters copper levels in the body.
Sawyer is the son of Mary and Randy Jarrell and younger brother to 6-year-old Aliviyah.
On Oct. 26, Mary said Sawyer became unresponsive and began experiencing seizures, leading his parents to take him to Children’s Hospital in New Orleans.
Two days later, the Jarrells, in what Mary described as the worst day of their lives, were told that their son had Menkes syndrome.
“A red flag went up for the geneticist when she felt his hair,” Mary said. “She took a sample and an hour later came back with the diagnosis.”
According to U.S. National Library of Medicine’s website, Menkes is a disorder characterized by sparse kinky hair, failure to gain weight, grow at an expected rate and includes deterioration of the nervous system. Other symptoms include weak muscle tone, sagging facial features, seizures, developmental delay and intellectual disability. Children diagnosed with Menkes syndrome often do not live past the age of 3-years-old. It is estimated that one in 100,000 newborns will be diagnosed with Menkes syndrome.
“Copper is very important for the body,” Mary said. “Sawyer is missing the gene entirely and his body cannot transport copper to his vital organs and tissues. Copper is necessary to collagen production, which as he grows and his brain gets bigger, there will be more strain put on his blood vessels. Some infants with Menkes are prone to aneurysms and brain bleeds.”
At the time of his diagnosis, Mary said Sawyer was unresponsive and experiencing back-to-back seizures. His prognosis was not good, prompting doctors to want to send the family home with hospice care.
Instead, doctors began treating Sawyer for the seizures. According to Mary, Sawyer became agitated with the first medication. After speaking with doctors about her son’s condition, his medication was changed and the morning after Mary said he woke up smiling.
“Each day got better and better,” Mary said. “He was smiling, cooing and looking at us.”
A geneticist put the Jarrells in contact with the National Institute of Health in Bethesda, Maryland. Sawyer is currently enrolled in clinical copper histidine trials and the family will travel to Maryland every eight months for the next four to five years.
Mary is a stay-at-home mom to Sawyer and due to his illness, utilizes a structured daily schedule, which begins even before he wakes up.
Before waking Sawyer, Mary prepares his bottle and his medications. He is given two seizure medications in pill and liquid form, medication for acid reflux, allergy medicine and a shot of copper histidine. These medications are given twice daily, with the exception of the allergy medication, which is once a day.
“The copper injections will help his system and hopefully delay some of the neurodegenerative symptoms,” Mary said. “During the day, he loves to sit in his swing and look at the lights and mobile. I put him on his pallet and try to get him to grasp toys and press the buttons on his toys.”
Sawyer lights up around his sister, Aliviyah, Mary said. Although she realizes her brother is sick, the Jarrells wish for their daughter to enjoy the innocence of childhood before going into great detail about her brother’s illness.
“She is a huge help,” Mary said. “She tries to give him his toys and he just lights up when she dances and sings. I believe this experience will make her more loving and compassionate child.”
Mary said their family has been blessed and the family prays every day for a miracle. She has reached out to Menkes support groups on Facebook and said they have an awesome family support system.
Next week, Sawyer will begin physical therapy.
“When faced with something like this,” Mary said. “You have to learn to change your focus and not compare him to other children. I do cry when I think my baby might not get to do those things. I would give anything to hear him say ‘Mama’ one day.”
To help offset medical expenses, Sawyer’s aunt and uncle, Toni and Shelton Farmer have coordinated fundraising events to benefit the Jarrells.
The first is a raffle for a Savage 7MM Remington Mag rifle with a scope, Toni said. The cost is $5 for a single ticket and $10 for three tickets. Anyone wishing to purchase tickets can contact Toni at 601-916-3566, Shelton at 601-347-1674 and Capt. Lane Pittman with the Picayune Police Department at 601-798-0374 Ext. (401).
On March 8, the Farmers will host a Turkey Shoot at the American Legion on Union School Road in Picayune. Sign-up begins at noon and the cost will be $5 per try. There will also be a performance by the Autumn Rise-N band and plate lunches from Sho Nuff BBQ will be available for purchase at $7 a plate.
Toni has also established a GoFundMe account, which can be found at http://www.gofundme.com/l0oars?fb_action_ids=10152740363242987&fb_action_types=og.shares&fb_ref=fb_cr_n.
Donations can also be mailed to Toni at 121 Ivy St., Carriere, MS, 39426.
“We want to help his family bring awareness to Menkes syndrome,” Toni said. “He is a little bundle of joy and an angel to be around.”
Mary said her son is a very happy baby despite his circumstances.
“He has these big beautiful eyes and a melt your heart smile,” Mary said. “He is definitely a momma’s boy and knows my voice. He’s just such a sweetheart. He may not live a full life, but I want to give him a legacy. We realize the possibility that he will degenerate further. In the back of my mind, I’m always wondering will this be the day he stops eating. I focus on those big smiles and we want to give him to the best quality of life. We have our baby bucket list and want to do all the things as a family with him. If we wake up another day and get another big old gummy grin, then we are happy with that.”

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