News that Illinois babies will “finally” be screened for Krabbe disease has been received with delight and relief all over the world. Krabbe disease can be treated with cord blood, but is rarely diagnosed in time for treatment to be effective.
For Natasha Spencer, mother of Krabbe disease sufferer Kenan, and passionate campaigner for newborn screening, this is a bitter-sweet success. Spencer’s Facebook post yesterday brimmed with heartfelt emotion. “Today,” she wrote, “the next generation of expectant, Illinois parents can take for granted the test Kenan never received. Today, we will find you, needle-in-a-haystack child, and identify you before the disease does.”
When Natasha Spencer went for her 21-week ultrasound scan her doctor reassured her that all her baby’s tests were clear, adding that her unborn son had “a beautiful brain.” Natasha already had a daughter, Tamsen and she and her husband, Dann were looking forward to meeting their son.
3 months later, Kenan was born. He weighed 8 pounds, 11 ounces and had a full head of hair. Natasha introduced him to her Facebook friends with a photo of him swaddled and sleeping. “We are in love!” she wrote.
Later, a nurse pricked Kenan’s heel and used special filter paper to collect blood that would be screened for dozens of rare diseases. When Natasha heard that “All results are normal” she wasn’t surprised. Kenan gave every appearance of being a healthy baby boy.
For the next 6 months, the Spencer family continued their lives as normally as any family with a newborn baby. Kenan grew alongside his big sister as his parents proudly noted their developmental landmarks: “Kenan’s laugh … around 5 months!” Natasha wrote on Facebook. “What a joy it is to hear!”
Then, just a few weeks later everything began to change. Instead of progressing as Tamsen had progressed, Kenan seemed to begin to regress. At first he became fussy and difficult to please, then his head began to tilt at an awkward angle. In just two weeks he was unable to use his hands. The change was so rapid and frightening that rather than waiting for an MRI scan scheduled for the next week, Natasha rushed Kenan to the emergency department of her nearest hospital.
It took two weeks to confirm a diagnosis of an aggressive form of Krabbe disease.
Krabbe disease is an accute lysosomal disorders. Babies with Krabbe (pronounced crab-AY) are born with a “beautiful brain” that later deteriorates. Their lysosomes don’t have enough of an enzyme that helps sustain the protective coating around nerve fibers. Without that protection, nerves throughout the body can’t transmit their signals properly.
The babies’ bodies go limp; their jaws go slack. They lose their sight, their hearing and their sense of taste. As the swallow reflex wanes, they choke on their own saliva. The mere act of holding them upright can restrict an airway. Children with the most aggressive form of Krabbe disease typically die before age 2.
New parents are used to chronicling the firsts of childhood: the first time a baby smiles, sits up, crawls. But for parents of infants with Krabbe, this tradition is turned inside out. Instead, they are mindful of the lasts: the last time a baby smiles, laughs, turns his head to make eye contact.
Studies have shown that a transplantation of umbilical cord blood can significantly improve the neurological health of infants with Krabbe disease, ‘favourably altering the natural history of the disease’. Infant screening for Krabbe disease would provide the opportunity to treat babies with umbilical cord blood transfusion before the disease became established.