RIDGEFIELD, Conn. -- Meg and Drew Whitbeck of Ridgefield reacted differently when they learned in February that their one-year-old son, Luke, suffered from a rare genetic disorder, Gaucher Disease.
- Who : Luke Whitbeck, 2, of Ridgefield
- What : Suffers from a rare illness, Gaucher Disease
- Help a neighbor: https://www.gofundme.com/thewarriorfund
Gaucher Disease is a rare disease that causes fatty lipid deposits to build up in some organs and bones. It results from not having an enzyme, glucoerebrosidase, that breaks down a fatty chemical, glucocerebroside. Fat-laden Gaucher cells build up in areas such as the spleen, liver and bone marrow.
Only 1 in 40,000 live births suffer Gaucher disease, according to the website Gaucherdisease.org, and symptoms include bone pain and easily fractured bones, anemia, bleeding and bruising problems, and a distended abdomen due to spleen and liver enlargement. The disease is treatable with a costly enzyme replacement therapy, which requires Luke to receive weekly infusions. Their family has established a GoFundMe page to help cover the infusions for Luke, who turned 2 in July. Click here to visit the page.
Now, the family prepares for its first Christmas since his diagnosis, well aware of what’s in store over the years ahead with the boy they call “Warrior Luke.” “We’ve hit our stride as a ‘rare’ family, and feel like we have our feet under us,’’ said Meg, a Registered Dietitian with Ridgefield Visiting Nurse Association. “We know how to handle things in the medical world, and have found support and encouragement from faith, friends, family, our church, jobs, medical team and community.”
The Whitbecks felt something was wrong shortly after Luke was born. He had feeding issues, and woke frequently in the night to be nursed and comforted more frequently than the typical newborn. At nine months, he had an enlarged liver and spleen.
“He became very anemic,’’ Meg said. “Although he walked shortly after his first birthday, he fell often, tired easily, bruised easily and had difficulty keeping his balance. He seemed uncomfortable often.”
The Whitbecks started to sort out Luke’s medical complications with the staff at Ridgefield Primary Care. “Dr. Jay D’Orso and the team at Ridgefield Primary Care have been exceptional to us and our whole family during this time. All of the docs in the practice have seen us at one point or another, and they have clearly communicated with one another and are a true team,’’ Meg said.
D’Orso led them to Maria Fareri Children’s Hospital in Valhalla, N.Y., where Luke was diagnosed by Dr. David Kronn, a geneticist, with Gaucher Disease.
“We went into the doctor's appointment that day knowing that there was something serious going on, so there was no surprise that there was something ‘wrong’ with Luke,’’ Drew said. “We had been waiting for months to figure out what was happening to our son, so there was a sense of relief in finding out the answer. Then, when we found out that there was a treatment for this incurable disease that would help Luke, I felt relieved.”
Meg cried when she learned the diagnosis. She had worked in Molecular Genetics at Genzyme Genetics before becoming a dietitian. “At Genzyme, I extracted DNA from countless blood samples being tested for Gaucher Disease,’’ Meg said. “I knew exactly what it was. Talk about coming full circle.”
After the diagnosis, doctors placed a port in Luke’s chest to perform Enzyme Replacement Therapy. He has made weekly visits for the infusions since receiving the port, and has resumed his natural growth. “His liver and spleen sizes have shrunk by 25 percent each, and his anemia has improved a great deal,’’ Meg said.
Still, it has not been easy. Luke suffered frequent ear infections and sleep apnea related to Gaucher cells building up in his lymph nodes, and doctors performed a procedure in June to remove his adenoids and place tubes in his ears. He gradually improved up until earlier this month, when the port stopped working. “We have no idea why,’’ Drew said. “It should last about four years, but it has only lasted 10/11 months.”
The weekly ERT treatments require a full day. Meg and Luke drive 45 minutes to the pediatric infusion center adjacent to Maria Fareri Childrens Hospital. He receives a numbing cream to make it easier to access the port, and the infusion takes up to five hours to complete.
While Luke has shown progress, daily life is still a struggle. “He tires easily, is still building his core strength, occasionally struggles with some foods and drinks, gets sick easily and occasionally bruises easily,’’ Meg said. He has developed anxiety, especially when visiting medical facilities, and has frequent nightmares.
The new normal for the Whitbecks means working full-time to manage Luke’s healthcare needs and bills in addition to their regular jobs. Meg manages Luke’s appointments and procedures and travels with him to therapy. Drew tracks the medical billing and explanation of benefits, and two nannies help with child care. The couple also has a 5-year-old son, Parker.
“There have been so many times that we get a stretch of great days or weeks, and get a taste of what life could be like with two healthy kids, and then we are smacked with something else,’’ Meg said. “So the emotional roller coaster is hard. We try to live for each day as to not let ourselves get beaten up by the ride. When there is a good day, we run with it, soak it up and have fun. On bad days, we hunker down together as a family and ride out the storm.”
While not yet 2, Luke shows his strong personality every day. “He’s an old soul,’’ Meg said. “His composure and courage at such a young age never cease to amaze anyone around him. The fact that he remains a joy to be around despite feeling terrible and having to endure so much has impressed us all.”
This family expects this year’s Christmas will be far better than last year when they still did not know why their son fought so many health issues. “That was just before the final 8 weeks before Luke’s diagnosis, and the eight worst weeks we have faced as a family,’’ Drew said. “Luke was not doing well, and we were worried, too. We weren’t sleeping, and we were desperate for answers.”
Now that they have the answers, they have set about their lives to make it the best they can with the circumstances they’ve been handed.
“There is only one scenario,’’ Meg said. “We will make sure that Luke gets this amazing medication that he needs to live in addition to all the love and nurturing any child needs. In turn, Luke will live the life that God has called him to be. The rest is in God’s hands.”
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