Zach is a happy go-lucky little boy who does not let anything stand in his way. Despite the many hurdles that MPS has given him he always manages to find a way to overcome them. It may not be the conventional way but he gets it done. His laugh, smile, and few but precious words make our world a better place.
Favorite Hobbies:
Running every and anywhere, riding his trike, bathing,
climbing on every and anything, listening to stories, listening to music, going to Disney World, watching Barney, going to Universal Studios, and Eating.
Proudest Accomplishment:
Being a good kid.
MPS Heroes:
Dr. Steven Singer, our ENT. He has restored Zachary's hearing 3 times and has a magnetic personality that gets Zachary laughing and cooperating.
Words of Wisdom:
Carpe Diem!
"MPS is like a pot of spaghetti sauce, most of the time it just simmers and there are no real changes. Occasionally you go to the doctor and they tell you something and the words burn you just as the sauce in the pot does. "- Joan Cohen
No one is promised tomorrow.
No one gets out of this world alive.
Personal Diagnosis Experience:
Zachary was behind on many milestones, but usually not by much. At age one, he had just begun crawling and our pediatrician sent us to a neurologist who ordered a high resolution blood chromosome test, and told us that in all likelihood he was just developmentally delayed and would catch up by 3. The chromosome test returned and he was fine. A year later, Zach was still behind and the doctor sent us for occupational therapy, physical therapy, and speech therapy evaluations. All the therapists concurred that he could benefit from services. The speech therapist ordered an audiological screening. At the audiological screening the audiologist asked if we believed Zach heard, we said yes. The test was begun in a sound proof box. After a few minutes the audiologist asks us to step out of the box and asks again if we think he can hear. We again say yes and she performs a bone conductive test which reveals that he has a conductive hearing loss. Here enters Dr. Steven Singer, our hero, he sees Zach asks about our story and says that Zach looks Hurleresque but since we were screened for Hurlers and found not to be carriers we all dismiss. He performs the surgery, Zach's hearing is restored and he makes nice progress in therapy. A year later, Zach is still behind but has made progress doctor tells us to be patient if there was a way to cure developmentally delays we'd be a millionaire. Re-refers us to neurologist and geneticist for testing. Geneticist sees Zach for 2 seconds and diagnosis him with MPS II. He tells us we tell him, no it can't be we were tested for MPS I prior to pregnancy and we are not carriers. He re-iterates MPS II not I. We ask if we were screened for MPS I wouldn't they have done the whole battery. He replies no and tells us he is 97% sure but orders the blood test, it comes back positive. We mourn. We tell the good Dr. Singer and he gives us these words of wisdom, "He's the same Zach you had yesterday. Call it what you like but nothing has changed for you. You have been dealing with this all along." We get over it just as the good doctor said.
