(BPT) – Kimberly Kuchler wasn’t too worried when she first felt some mild abdominal pains last summer. Young and full of energy, the former collegiate athlete wasn’t about to let anything slow her down, especially since her orthopedic sales job required her to be on call.
Besides, she thought, it’s only a stomach ache. What’s the big deal?
But these were no ordinary stomach aches. Instead her pains were caused by lipoprotein lipase deficiency (LPLD), a rare genetic disorder that prevents the body from properly digesting certain fats. The disorder is so rare it affects only one out of every one million people in the U.S. Ms. Kuchler was one of them.
On November 13, 2013, Ms. Kuchler had no idea she had LPLD. She knew nothing about the disease or that it was about to trigger an eight-month living nightmare that would almost kill her. But when her ordeal finally ended, Kuchler found her life had a new purpose. “I knew I had to help others like me. Not just with LPLD but with all rare diseases,” she says.
Kuchler’s goal of helping others with her disease is shared by a new resource for people with LPLD, the LPL Deficiency Association, which is a vibrant community where patients, families and caregivers can connect, share and learn by visiting lplda.org. “I’m thankful this resource is out there for others with LPLD,” Kuchler says. “For me, one of the most difficult things about having LPLD is finding reliable medical information about my disease.”
For Kuchler, it all began Nov. 14, 2013. On that day, her abdominal pain became intolerable and she was admitted to Virginia Hospital Center. Because her level of triglycerides (a fatty substance found in the blood) was dangerously high, she was transported to Fairfax Hospital’s Trauma Intensive Care Unit (ICU).
She was diagnosed with acute necrotizing pancreatitis, one of the worst effects of having LPLD. Normally, the pancreas converts food into fuel for the body’s cells. But Kuchler’s enzymes were activated inside her pancreas and “digesting” the pancreatic tissue, causing swelling, bleeding and damage to her pancreas, blood vessels and other organs.
She spent most of the next five months in hospitals, including 83 days in ICUs at three different hospitals. In addition to abdominal pain that felt like knife cuts, she had multiple septic infections, enlarged pseudocysts, multiple instances of fluid build-up in the abdomen and pelvic area and agonizing joint pain.
At one point, large volumes of IV fluids caused her to gain more than 30 pounds in just three days. Another time, she lost 60 pounds when a near-fatal infection prevented her from eating or drinking water for two weeks. Eventually, she could not breathe and had to undergo an emergency procedure, during which a large needle went through her back and into her left lung to draw out the infected fluids.
After her temperature hit 107 degrees, Kuchler was transferred to Johns Hopkins University Hospital for more invasive procedures, countless tests and blood transfusions. She experienced episodes of delirium and paranoia and lost her memory for two weeks.
After all that, she was discharged in March and seemingly on the road to recovery. After four weeks, she felt well enough to go out for a run. But nearly 24 hours later she woke up in the middle of the night, feeling critically ill. She tried walking toward her bathroom but fainted and collapsed, striking her head against a marble slab. This caused her to suffer a seizure, and she was rushed to INOVA Fairfax Hospital where she was given an emergency transfusion of three units of unmatched blood through her carotid.
“Nothing was as scary as lying in that hospital bed and seeing about a dozen physicians run into my room,” says Kuchler. “Thankfully, they saved my life.”
Finally, this past June, Kuchler was diagnosed with familial hyperchylomicronemia, a syndrome caused from LPLD that affects only one in 1 million people in the U.S. Because she lacks lipoprotein lipase, Kuchler takes enzyme pills to aid digestion and daily lipid medicine to control her triglycerides. She is also extremely conscientious about her diet.
Being incapacitated for months by LPLD has fueled her life-long passion to help others, especially those with rare diseases who often feel lost, alone and vulnerable. She is dedicated to connecting patients who have rare or orphan diseases, as well as raising awareness about the promise of evolving gene therapy. She also is developing a recipe guide called “NoSugarNoFatNoProblem!” to help those with LPLD maintain a healthy diet, which is so important in managing their disease. “I was excited to find that many companies are researching LPLD and that resources are available to help patients be more proactive,” she says. “Hopefully, this will help some of them from ever experiencing an attack of severe acute pancreatitis.”
The LPL Deficiency Association offers caring support for a unified community of parents, families and caregivers to share, network and learn from reliable, credible educational resources. The association’s goal is to build awareness of the impact of LPLD on patients and their families while advocating the need for appropriate diagnoses, treatment, research and a cure. You can learn more about the association, as well as the LPLD national and international community, by visiting lplda.org.