Joey has an old soul. He has wisdom beyond his years. Anyone who has the privilege of getting to know him is touched not only his gentleness and heart of gold but also by his positive attitude despite the obstacles he faces each day. He always puts his best effort forth. His teachers and classmates absolute adore him; he can win anyone over with his infectious smile. At the end of a long hard day, a hug from Joey is remedy to which I look forward and depend on to take my stress away. Joey’s innocence is what’s most special about him; he never asks or wants anything but love. I think this is what makes these children so special and truthfully a gift; they teach you unconditional love and truly what is really important in this world.
Favorite Hobbies:
Joey’s favorite thing is just spending time with his family in any degree. He loves playing video games with his older brother and his friends. He adores simply relaxing and watching movies; it’s his comfort zone. Joey loves to read books and have them read to him.
Proudest Accomplishment:
Several years ago, Joey participated in Special Olympics and won both a Gold and Silver Medal in track and field. The medals are proudly displayed in his room. He also performs in a entertainment group through our church called Sisters of Elegance. This group is mainly made up with woman of the church varying in ages of 75 to 35. The sole purpose of this group is fellowship. The group sings and dances at various social gatherings and also nursing homes. Joey’s presence in the group has brought not only him great joy and sense of pride but also has taught him to be more outgoing. He has surely become the “star” of our little group and steals the show away!
MPS Heroes:
Without hesitation I would have to say Joey’s biggest hero is Dr. Barbara Burton. About one year ago, certainly fate led us to her and Children’s Memorial Hospital. She has assumed the role of Joey’s primary care coordinator and that is not an easy job. Everyone knows that the care of a MPS or ML child is very complex. Dr. Burton has ensured that Joseph sees the top specialist in each area. She also has been a lifesaver and there for Joey in his time of need at a moments notice. She has been so patient with our family and our multitude of questions. Her genuine concern and caring for Joseph’s comfort and over all well being overwhelms me.
Words of Wisdom:
Joey’s favorite saying is “Serenity Now. Having a child with a chronic illness can be especially hard on a family dynamics. Learning to juggle the numerous doctor appointments and emotional ups and downs can often be emotionally draining and consuming at times. When we originally received Joseph’s diagnosis, I remember the doctor saying not to worry; Joey was still the same little boy he always was. What I have to remind myself sometimes is that Mucolipidosis is only a portion of who he is. At initial diagnosis, there is a time where your world stops, after that you redefine your life. Acceptance is hard but crucial. Having a solid support system is what the children now call “Sweet”. For our family being open and sharing with other families has offered great relief; to know you’re not alone.
Personal Diagnosis Experience:
At three days old at routine care visit, the doctor noted contractures in Joey’s hips and other joints and that he had Bilateral Hip Dysplasia. Our specialist diagnosed him with mild Arthrogryposis, meaning born with multiple joint contractures. This condition is thought not to be degenerative. Joey was put in physical therapy to achieve better his range of motion. Splinting was also done. He responded well to both and so therapy was stopped at around six months old.
At eighteen months, the doctors noticed that Joey’s head circumference had fallen way below the normal range. They also discovered a mild heart murmur. We were again sent to specialists and they were certain Joey had MPS. He was tested by blood work; but the results were negative.
At age three Joey had reconstructive Bilateral Hip Surgery to reposition his hips; we also tested a second time for MPS through a skin biopsy. The hip surgery was successful although Joey lacked the acetabular roof. He was followed yearly by orthopedics in hopes that this would develop which has never been the case. By this time, developmental delays were occurring across the board. He started an early intervention program for speech therapy. He has continued to receive special education services for learning disabilities.
At age six, we attempted to do hand surgery to straighten the curvatures of his fingers. The surgery was not successful, which baffled the surgeon and the second hand was not attempted. Joey’s hands are the area that was most noticeably affected. Over the years his hands worsened. The fingers became more curved and the joints grew larger. He really struggled with the fine motor skills of buttons and snaps and zippers. Finally at age nine, we consulted the same hand surgeon. I expressed my concern over the obvious degenerative nature of his hands.
He referred us onto a new Genetic doctor. This doctor after hearing Joey’s history immediately felt he had Mucolipidosis Type III. Initially, I was elated to finally have a name to what was happening to my son. I had no idea what Mucolipidosis was and it’s relationship to MPS. I ran home to start research. The first site that appeared when I pulled up Mucolipidosis was the MPS Society.
Joey’s hips remain to be a huge issue for him and source of pain. His knees also bother him. Further surgery is definitely in his future, although, we are opting to wait until he is in his twenties when we will do a total hip replacement.
Last year, Joey started using Monthly Intravenous Pamidronate Therapy to treat the secondary bone/osteoporosis disease present with Mucolipidosis. This also helps manage the intense pain issues that persist daily and affect his mobility. Managing his symptoms and care is quite an undertaking. He now sees multiple specialists including Cardiac, pulmonary, ophthalmology and sleep specialist on a yearly basis. We don’t know exactly what course Joey’s disease will take, but we try to remain optimistic.
