Infantile malignant osteopetrosis
When Gwen Shaver and her twin brother, Grant, were born, parents Ben and Deanna knew their baby girl was special. What they didn’t expect was that she would soon be diagnosed with a rare disease that affects one in 250,000 children.
“Gwen was sickly from birth,” Deanna said. “She was so tiny, struggled to eat and was incredibly pale. We knew from pretty early on that something was just not right.”
Deanna took Gwen to the pediatrician several times, but every time, the issues were excused away. Eventually, the Shavers decided to go ahead and make the trek from their home in Auburn to Birmingham to get the opinion of Dr. Amanda Soong in the Children’s of Alabama’s Division of Gastroenterology, Hepatology and Nutrition. “Dr. Soong completely agreed with us that bloodwork needed to be done because something seemed wrong,” Deanna added.
One round of bloodwork turned into multiple rounds as doctors strived to determine what exactly was causing Gwen’s illness. It was obvious that whatever it was, it was rare. After a couple of weeks of testing, it was determined that she had malignant infantile osteopetrosis, a rare genetic bone disease. “The only option was a bone marrow transplant,” Ben said. “It was scary because that was it—that was the only cure. There was no other direction to go.”
Gwen was immediately moved to the bone marrow unit and placed under the care of hematologist oncologist Dr. Hilary Haines, who explained the process of the procedure to the family and that ideally, they would find Gwen a perfect match, hopefully within the family. The entire family went through genetic testing, and her older brother, Henry—who was only 3 years old at the time—came back as the perfect match. “We were so glad that he was, but that meant we were terrified times two,” Deanna said. “It was a blessing, but it was incredibly scary at the time.”
Though certainly not required, the family proceeded with Henry as the bone marrow donor. “He wore a Superman T-shirt the entire time because he was truly our super hero,” Ben said.
On January 17, 2019, doctors were able to retrieve Henry’s bone marrow. The same day, they began the process of giving it to Gwen. “She was so tiny, they didn’t want to give her too much in one day, so they did it over a two-day period,” Deanna said.
Gwen’s small size made it hard for her body to accept the bone marrow. While she did great during the chemotherapy prior to the transplant, her body struggled with the bone marrow. She started having breathing difficulties and had to be intubated and moved to the ICU. “At one point they had to restart her heart, and they had to eventually put her on dialysis,” Ben said.
Her oxygen levels continued to drop, and the family thought she wouldn’t make it another day—until a doctor made the call to prone her, which meant to have her moved so that she was lying face down on her stomach. “Doing so gave her lungs more space to breathe—the disease wasn’t allowing her rib cage to have the flexibility needed for her lungs to expand enough—and that literally saved her life,” Deanna said. “From that point, she began to get better little by little.”
Though the improvements were small, Gwen did slowly begin recuperating. She finally had the breathing tube removed and was moved out of the ICU and back into the bone marrow unit, where she continued to make small strides. At the time, she was still being fed intravenously and then through a G tube—in incredibly tiny amounts as small as one milliliter per hour. By the end of April, she was discharged, though the family stayed close by in an apartment provided by aTeam Ministries for a few months until the required clinic visits decreased. In June, the family was finally all back together under one roof in their Auburn home. Gwen is now 5 years old and is thriving.
“They call her a miracle baby, and she truly is,” Deanna said. “The doctors at Children’s saved Gwen’s life, and they took care of us too, not just Gwen. Gwen was fighting a battle, but we were struggling too, and the nurses and entire staff loved on us like family. The support of the nurses, family, friends and our faith is what got us through it all.”