Alexander's Hope: a family's fight against sialidosis

Background

I am William C. Skojec and I would like to introduce you to a very special person, my son Alexander. His name means "helper of mankind," and I am hoping that this will be his legacy. You see, Alex was diagnosed with Sialidosis, Type II shortly before his first birthday. Physicians tell us this disorder will likely end his life in childhood, before he experiences many of the joys of boyhood. It will not do so gently, but will instead be cruel in taking things away from him before he dies. I am hopeful, that Alex's life, and those of other children like him, will serve to bring changes in medicine and public policy so that others will not suffer as we have.

Childhood is supposed to be a time when we as parents look on in awe as our little ones develop new skills and abilities (seemingly overnight) . We marvel over each new acquired ability and feel sad over how quickly the time passes. At least this is how it is supposed to be, but it is not so with Alexander. He has not achieved many of the developmental milestones we had expected or hoped to witness. At 16 months-old, he barely has the ability to sit for long without support, and he has not come close to standing or walking- two of the things others his age are achieving quite readily. He has enlarged internal organs, a compromised immune system, skeletal abnormalities, breathing difficulties, and a terribly bothersome rash.

Despite his physical problems and poor prognosis, he loves life. I know this in those moments when we make contact- when we are lying in bed looking into each others eyes and he smiles at me getting that content look because I am rubbing his back, something he enjoys most of all, or when I whistle at him and he grins from ear to ear. He loves splashing in the bathtub and ringing a little bell. He contentedly babbles dada and mama, but no other words. He does not eat regular food, as he prefers the consistency of baby food and has few teeth with which to chew other foods. 

An image of Alex with his father, Bill.

Bill and Alexander Skojec

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