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Alexa suffers from a Rare recessive genetic disease

Organized by: Dave Raph Lovato

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Fate can play a hand when we least expect it. If Dave Linthicum had left work to head home one minute later, or earlier, he wouldn’t have been T-boned at an intersection by a careless driver trying to beat a red light. His truck was totaled, his back was injured, but thankfully Dave walked away from the accident. However he did have to take time off from work, something neither he nor his wife Ashleigh were expecting. But if it weren't for the car accident, Dave wouldn’t have been home in the middle of the day a month later, when Ashleigh screamed for him to come into his 3 month-old-daughter Alexa's room. Alexa was in her crib, having a full-blown, whole-body seizure. Her parents were in shock because Alexa had never had an episode like this before, but they were also both experiencing the sinking feeling of déjà vu. They had seen these seizures before— only not with Alexa, with their daughter Holly. Holly was the second daughter for the Linthicums. They already had a beautiful, healthy 2-year-old named Hailey. When they found out they were pregnant with their second girl, they had no reason to believe this baby would be any different. After a perfect pregnancy, Holly came out screaming. And then the screaming didn’t stop. This was the first of Holly’s symptoms that would leave doctors scratching their heads, but it wouldn’t be the last. For the next few months, the Linthicums’ life was a hurricane of confusion and failed attempts to help their daughter. She wasn't gaining weight and screamed what her parents described as “no ordinary cry” for hours on end. Next, she developed a recurring twitch in her back. The phrase every doctor used to pacify Ashleigh became her worst nightmare: “It will get better. Just give it time.” Mother’s intuition was right. Something was very wrong. When the family finally found a neurologist who sided with them they tried in vain to find a diagnosis. Doctors were confounded when Holly tested negative for every test they ran on her. On paper she was the picture of health. But lurking below the surface, something sinister had a hold on Holly. Once she began suffering from infantile spasms, her family noticed a rapid regression. Her personality evaporated, she no longer laughed, showed no interest in anything, and was “an empty shell” of herself. At 2 years, 4 months, and 24 days, Holly lost her battle with a disease that was never given a name. Holly was gone, but Ashleigh and Dave had always known they wanted more children. They sought advice from a trusted genetics doctor who assured the couple there was no reason they shouldn’t have a healthy baby. Following a more difficult pregnancy, Ashleigh gave birth to the couple’s third daughter, Alexa. She didn’t take to nursing, and would periodically scream and cry, but the similarities with Holly ended there. Then one day Ashleigh noticed her daughter had a twitch. When Alexa had her first seizure, there was no room for doubt. The familiar yet unknown darkness had returned. Two days later, Alexa was admitted to the hospital for testing. As the family waited for results, they were able to observe their daughter’s development more objectively. Although her personality continued to be bubbly and sweet, she wasn’t meeting milestones like holding her head up or rolling over. And then, one cold February day, the family got the call they had been waiting for. Because of exome testing, a process of splitting and cross-examining DNA, doctors could compare Alexa’s cells to the preserved cells from Holly. They were finally able to label the disease that had plagued the Linthicum family. Alexa has PIGN, an exceedingly rare genetic degenerative disease (there are only 2 other confirmed cases, both outside the US.) Although this insight brought long-awaited comfort, its prognosis was grim. Based on doctors' limited experience and knowledge, Alexa isn’t expected to live past the age of 3. But Dave and Ashleigh refuse to put a number on their daughter’s life. They thought, “she’s strong. She’s a fighter.” Yes, sometimes fate plays a hand. Holly changed forever her sister’s life— if not for her, the family would have lost two daughters without knowing why. For a family that has been through so much, they ask for very little. Because they kept all of Holly’s equipment, they only asked crowdrise for a chair with an adjustment, a PlayPak, and a swingset. We were honored to help provide for Alexa something that “makes her feel like a part of the world for as long as she can.We really need $5,000grant that would bring a little more joy and ease into Alexa's life.


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Dave Raph Lovato

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