Like other infants, Olivia Ann Hoffmann seemed to develop according to any of the milestones that parents may read about in child development books… she was able to lift her head by three months and started making cooing sounds with an occasional smile. By six months, Olivia was able to laugh with delight and imitate familiar actions and when she was one, Olivia could crawl, babble, and copy sounds and actions. Olivia’s parents, Christine and Eric, were thrilled with her development and looked forward to planning their next pregnancy in the coming year.
However, when Olivia’s second birthday approached and she still wasn’t walking on her own, her pediatrician referred the Hoffmanns to see an orthopedist and ordered x-rays to rule out hip dysplasia or other possibilities. They also saw a neurologist, who recommended an MRI. Although the MRI showed that Olivia had slightly less white matter (the part of the brain that contains myelinated nerve fibers) than similarly-aged children, it was not enough of a concern for further testing. The neurologist asked to see Olivia again in the next few months if she was not yet walking.
Two months after Olivia’s second birthday, Christine noticed that her daughter, still not walking on her own, was very lethargic. After discounting the decreased energy and appetite as the flu for several days, Christine checked in with the neurologist to share her concerns. He admitted Olivia to the hospital the next morning, where she spent seven days undergoing a battery of tests. While blood work needed to be sent to Philadelphia for genetic testing, their specialist prepared Christine and Eric with his prediction: that Olivia likely had either Krabbe Leukodystrophy or Metachromatic Leukodystrophy (MLD).
On August 11, 2004, at the age of twenty-seven months, Olivia’s diagnosis was confirmed as Metachromatic Leukodystrophy (MLD), a rare, genetic, metabolic disorder affecting only one in forty thousand children in which a fatty substance builds up in the brain and spinal cord, destroying the matter which surrounds and protects the nerves causing them to gradually quit working.
Christine noticed almost simultaneously that Olivia’s movement slowed. By October, Olivia was no longer speaking, and eating became difficult. The next month, Olivia was no longer able to move on her own. Olivia’s health and development rapidly spiraled downward. In less than a year, MLD caused Olivia to go from a healthy, smiling, bright-eyed little girl to a child who could no longer control any movement, talk, eat (she’s fed through a feeding tube), see, or even smile.
While bone marrow transplants can slow the progression of the disorder, it is most effective in children/individuals who have not shown any signs or symptoms of the disorder. In Olivia’s case, her parents were faced with the acceptance of gradually losing the child they once knew.
A few months after Olivia’s rapid decline, with Christine and Eric still in a fog of grief and disbelief, her symptoms and abilities seemed to plateau in February/March of 2005. “Some changes, such as the loss of most of her eyesight, constant congestion, and airway/breathing issues developed after her plateau, but overall, her developmental loss has stayed about the same. Even still, we know that down the road we’ll need to discuss the possibility of a tracheostomy,” said Olivia’s mom, Christine.
Children diagnosed with late-infantile MLD, such as Olivia, may live five years, but loss of mental, motor, and organ functions leads to eventual death. Olivia celebrated her sixth birthday on May 17, 2008. Her parents, family (including 22-month-old MLD-free twins Will and Carter), friends, teachers and therapists are enjoying every day they have with her. Still, there are times when Olivia’s heart rate will sky rocket or an airway is blocked by mucous. “As a couple, we try to stay calm and discuss what we need to do so that we can deal with situations together,” said Christine.
“As far as we can tell, Olivia really seems to enjoy being around other children and with activity around her. We know that when we’re able to go to Ryan House as a family, Olivia will be in a fun, new, and stimulating environment and that she will be taken care of very well,” said Christine. “As a parent, it’s exciting to know that while we may look forward to Olivia’s stay at Ryan House so that we might spend some time with our twins, it will be a special place for her, too, and one that she’ll look forward to going to again.”
To listen to Dr. Stephen Blum’s June 10, 2008 radio interview with Olivia’s mom, Christine, and Dr. Tressia Shaw, visit: http://www.empoweringourchildren.com/programschedule.aspx
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