When little Di’Laine Marie was just a month old, genetics specialists in Atlanta told her family, “Take her home, put her on hospice and let go.”
Di’Laine was born in July 2018 with a rare form of Gaucher (pronounced Go-shay) Disease, a genetic disorder that results in dangerously low amounts of an enzyme that breaks down a fatty chemical that can damage organs in the body. Di’Laine has Type II Gaucher, the most serious form of the disease, and the one that is considered untreatable because it tends to cause rapid, irreversible brain damage.
Doctors told Di’Laine’s mother, Kelsie Smith, that the newborn was blind and deaf. Both turned out to be false. Smith was unwilling to accept the advice that she let her baby go. “A baby’s life is not a lost cause,” says Smith, a Catoosa County resident. “How can you tell a parent that?”
Thanks to a stranger on Facebook, Smith found a doctor – Ozlem Goker-Alpan – in Fairfax, Va., who specializes in exactly what her daughter has. She called and made an appointment.
Di’Laine was soon placed on enzyme replacement therapy (ERT) and a drug her family must purchase from Germany because it has not been approved by the USFDA. “Baby D,” as many affectionately call Di’Laine, is on a feeding tube and has a central line in her chest for administering the ERT.
Smith has learned how to tend to some of Di’Laine’s medical needs at home. She keeps her tubes clean and replaces them as necessary. She’s had to amass a huge amount of knowledge, because it is often up to her to educate doctors about her baby’s special needs.
Every two weeks, Smith takes Di’Laine to T.C. Thompson Children’s Hospital in Chattanooga for an ERT treatment, something she will eventually be able to do herself. There are regular trips to see Dr. Alpan in Fairfax and also to visit the National Institutes of Health in Bethesda, Md., where doctors and researchers poke, prod, jab and study Di’Laine in order to learn more about a condition that affects only about 500 people worldwide.
Di’Laine undergoes regular EEGs, sleep and swallow studies and oxygen tests. She suffers from sleep apnea and often chokes due to swallowing issues that are common to her condition.
Each ERT treatment runs $10,000-$15,000. Smith had no insurance to cover that cost for the first six months of Di’Laine’s life. “Her insurance will kick in soon,” says Smith, “and she’ll get the treatments every week like she’s supposed to, instead of every two weeks like she does now.”
The regular trips to Virginia and Maryland are up to the family to cover. “We usually have to rent a car and we have to have a place to stay up there,” says Smith. “They always say it will only be a few days, but it always ends up being one or two weeks.” Smith’s husband was able to make one trip with her, because a cousin donated frequent flier miles so he could return early and go back to work.
One of Smith’s big frustrations has been doctors too ready to write off little Di’Laine as a lost cause. “If she had cancer,” says Smith, “they would do everything they could for her. They would give her every chance to live.”
Because it’s so rare, most doctors don’t know a lot about Di’Laine’s condition. Smith was fortunate to find an eye doctor in Crossville who specializes in pediatric eye problems, especially as related to rare disorders. Smith had been describing certain symptoms to other doctors for some time and getting nowhere, but when she shared them recently with Di’Laine’s eye doctor, he immediately recognized what the problem was and knew it could be corrected surgically. He has four other patients with forms of Gaucher Disease.
Di’Laine is six months old now. She is a bubbly, happy little girl who giggles when her mother tickles her and loves to look at herself in a mirror and play games. “She likes what we call the scream game,” says Smith. “She screams and she wants you to scream back.”
The life expectancy for someone with Di’Laine’s type of Gaucher Disease is two years at the most. But there’s something new on the horizon that might make all the difference. The family is awaiting word that the FDA has approved a type of gene-replacement that will turn the tide for Di’Laine. “We hope to hear by the end of March,” says Smith. “If it’s approved, Di’Laine will be the first human being to receive it.”
In the meantime, expenses pile up. Friends and family have conducted fundraisers and set up a Go Fund Me page. Smith says Tunnel Hill Pharmacy has been a big help and lets her run a tab when she doesn’t have money to pay for medications. Above all, says Smith, her mother has been a rock of support. “She’s always there for me. She buys stuff for Di’Laine when we can’t afford it. She lets me sleep when I need it. She’s just always there.”
The next fundraiser for Di’Laine will be a joint dinner, provided by Lew’s Q BBQ, and concert, by Master Peace Quartet, at Mount Vernon United Methodist Church in Rocky Face on Feb. 23 at 6 p.m. The church is located at 597 Lafayette Road, Rocky Face.
Dinner/concert fundraiser for 6-month-old Di’Laine Smith to help with medical expenses
Where: Mount Vernon United Methodist Church, 597 Lafayette Road, Rocky Face, Ga.
When: Feb. 23 at 6 p.m.
Cost: $15 for adults, $10 for children, under 3 free
Tickets: At church office, Absolute Heating and Air (3363 Chattanooga Rd., Tunnel Hill) or call Connie Longmire at 706-280-1706.
To donate any time: gofundme.com/teamdilaine-gaucher-disease