November 4, 2011 ... it is confirmed. My son Peter, 17, has short telomeres. Along with his other signs, this tells us that he does indeed have DC, as his hematologist suspected a year ago when a routine blood test revealed severe aplastic anemia.
Peter was born near Kolkata, India and abandoned at birth. He was found and taken to a very good orphanage. He was extremely IUGR and struggled with breathing and digestion, but these issues were believed to be transient. We adopted him -- a tiny but beautiful little man -- when he was 6 months old.
Peter has struggled with many issues during his life. We always suspected that there was "something" going on with him, but in the absence of any major signposts, we just called it "Peter syndrome". Peter was failure to thrive. He is microcephalic, has epicanthal folds in his eyes and has hyperpigmentation on his tongue, arm and neck. He is cognitively challenged. He has severe early-onset bipolar disorder and developed severe diabetes a year ago. When he was born, one testical was undescended. We brought it down, but neither of them have worked. Peter will never have puberty. He has very short stature and his voice will always be high. His feet are slightly malformed. He doesn't have visible leukoplakia and his nails seem OK for now. But only 5% of his bone marrow is still alive.
Peter's blood counts were devastatingly low last winter but took a bounce up when we identified and treated his diabetes. His red and white counts are now just below normal, though his platelets have never been higher than 25. He's been stable like this for most of this year, so we only see the hematologist every 2-3 months for follow-up.
Of course Peter has no well-matched sibling and we will absolutely not do a BMT with an unrelated donor. Peter's mental health is precarious and he is hypersensitive to touch. His mouth is especially sensitive and he rarely brushes his teeth. We would have to brutalize him to brush them ourselves, so we've opted not to fight that battle. We have other priorities.
When Peter eventually declines, we will provide supportive care and put him under hospice care. We'll treat things -- like respiratory infections -- that are relatively easy to get under control, but we are not inclined to transfuse him endlessly, only if it extends quality life. Being transfusion dependent is not quality life. The rest of Peter's life will not revolve around doctors, hospitals, needles and procedures. He will live as much as possible as a "normal boy".
Peter is in our large neighborhood high school as a special education student and is dearly loved by his teachers and many hundreds of friends. He is active in school activities. If there was a Ph.D. in Wii, he would be Dr. Peter. He has two siblings -- also adopted from India -- who cherish him, despite his tendency to melt down and shriek at the smallest provocation. During his stable times (many hours a day) he is the most empathetic and loving young man you could hope to meet. He loves to go to the library, 7-Eleven, and other nearby places on his bike. He understands time and money and loves having a few bucks in his pocket. Small things, like a burger from McDonalds, make him very happy.
I would love to hear from other parents about marrow cellularity. What percent of your kids' marrow is still alive? I wonder how long a person can live in such great health with only 5% of his marrow? Peter is so full of vim these days! Will this possibly cycle, with months of decline and then months of improvement? And how can I form closer ties with other families living with DC?
Chris in Skokie, IL
cfutia@aol.com
