“Every day you wake up and open your eyes,” explains Stephanie. “And for that first minute you don’t remember it, then all of a sudden you do—that this is what we’re going through.”
For Stephanie, working as a hospital nurse in the neonatal intensive care unit (NICU) exposed her to many difficulties that new parents face with complicated births. However, when she and her husband Austin decided to have a child of their own, nothing could have been further from their minds. Little could prepare them for both the great challenges and gifts that their first daughter, Annabelle, would bring.
Annabelle was born after a healthy pregnancy. “Until you have a child, you just don’t realize the amount of love that is possible,” Stephanie said, reflecting on the birth. However, within months some troubling signs emerged, including a lump on Annabelle’s back first apparent while burping her. “It’s one of those things you notice and you want to ask, but don’t want to get bad news. I knew there was something there.” During her next checkup, the pediatrician also noticed the strange lump in Annabelle’s back. Soon, Stephanie found herself back at the NICU, but this time, with her own daughter.
When a series of specialists began arriving, including a geneticist, and x-rays were taken of every bone in Annabelle’s body, it all started to come into focus. “I’ve been on the other side of this equation, so I knew that something big was going on.” Stephanie was scared, but determined to get every ounce of information possible. “I’m already alarmed, so tell me what it is,” she pleaded with the staff. They were hesitant at first to give out possibly harmful information, but Stephanie’s forthright questioning was eventually reciprocated, with the beginnings of an answer.
By December, a diagnosis was reached via a skin biopsy. “It was unbelievably quick,” said Stephanie. Annabelle was diagnosed with Morquio A syndrome (MPS IVA). “You have to hear it over and over again,” said Stephanie. “You have to hear: this is what your child has, this is what’s going to happen.” Still, empowered by her understanding of medicine, Stephanie was determined to find solutions to Annabelle’s condition. “We kept repeating it back to each other. This is what it is. These are the symptoms. This is what life is going to be like.”
Despite the immense challenges MPS posed, Stephanie and Austin found hope, and eventually a community, that presented glimpses into a more positive future. Yet, none of this stopped the family from attaining other goals. Stephanie, during these tough years, gave birth to two more baby girls. “You don’t have to stop having life, because of this. I think it’s important to try to embrace this and build it into the greater picture.”
Annabelle regularly faces incredible challenges, but with the help of ERT and a supportive community, she is starting to build her own dreams. Though walking unassisted, she is not content with merely having this ability—which many MPS patients struggle with—she wants to go fast. “She’s a little bit of an adrenaline junkie,” said Stephanie. “She always talked about horses and about being a jockey, long before we started horse-back riding.” As an aspiring rider, Annabelle has now gained skills and experiences on a horse that many kids never dream of. In addition to her agility on horseback, she is in an accelerated learning course in school, an important commitment she balances despite taking a day off every week to receive her treatment—just one more refusal to let anything slow her down.
What is Mucopolysaccharidoses?
The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth. These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow. This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body. There are several different types and subtypes of mucopolysaccharidosis. These disorders, with one exception, are inherited as autosomal recessive traits.
Subdivions of MPS
MPS 1 H/S (Hurler/Scheie syndrome)
MPS I H (Hurler disease)
MPS II-(Hunter syndrome)
MPS III A, B, C, and D (Sanfillipo syndrome)
MPS I S (Scheie syndrome)
MPS IV A and B (Morquio syndrome)
MPS IX (hyaluronidase deficiency)
MPS VII (Sly syndrome)
MPS VI (Maroteaux-Lamy syndrome)