Another Peter

Oh my, I am so far behind!  I still have to share photos and anecdotes from Agra, Delhi and the beginning of our time in Kolkata.

I am currently at Shishur Sevay, Michelle Harrison's home for girls in south Kolkata.  Peter and I are staying with the family of one of Shishur Sevay's board members, and the Jorgensens are staying with another.  Both homes are just a few steps from Shishur Sevay itself.

Yesterday I met a new teacher at Shishur Sevay who has a son and a daughter much like Peter -- born with genetic mutations leading to a variety of developmental and health issues.  On the way to visit a tailor to have Kamini's sari blouse stitched, the teacher pointed out her son and daughter waving from the balcony of their apartment.  When I looked up and saw her son, I was absolutely floored.  He is the spitting image of Peter.

Both boys were very small for gestational age.  Both have had severe breathing and gastrointestinal issues.  Both have microscopic genitals and shriveled testicles that do not work.  Her son is 20 and like Peter, he has never had any signs of puberty.  Both boys are mentally retarded (though Peter is substantially more functional).  Most interesting of all, both boys suffer from severe blood disorders.

The teacher's son has chronic idiopathic thrombocytopenic purpura (ITP) which means that his body does not produce enough platelets.  He has had many severe bleeding episodes.  There is no treatment for this condition.  The teacher was told two years ago that he would not survive another year, but she sought help from outside traditional medicine -- both ayurvedic and homeopathic.  The homeopathy seems to be working, although the course of ITP is totally variable and he could be in a period of naturally higher platelet production.

Many of the people here at Shishur Sevay have met the teacher's son and when they met Peter they were amazed at the resemblance.  Peter's blood disorder is much more serious, though.  He has failure of all 3 blood lines: white cells, red cells AND platelets.  We found out last week that his test for Fanconi's Anemia surprisingly came back NEGATIVE.  This is a bit surprising with all of his manifestations that match Fanconi's, but not totally unexpected.  He DOES have some sort of genetic syndrome, but only two or three of them (like Fanconi's) actually have names.  We could do a chromosome study and identify exactly where the abnormalities are in his genome, but that would tell us nothing about his actual condition or prognosis.  The teacher's children have also been diagnosed with unnamed genetic syndromes.  Fanconi's is the most common, and even it is an extremely rare "orphan disease".

From what everyone is telling me, these types of disorders (known as autosomal recessive, meaning that both parents carry but do not suffer from the disorder) are more common in India than many other places.  This is due to a higher level of consanguinity between husbands and wives.  The caste system (which includes 4 major castes and thousands of subcastes) has led to a high degree of "inbreeding" across decades and centuries.  When a random mutation occurs, some of the "founder's" progeny will carry it.  As the generations accumulate, the mutation will spread within the community and eventually two people with the mutation will marry.  Then there is a one in four chance that each of their children will suffer from the full-blown genetic syndrome.

The role of consanguity in genetic syndromes is also exemplified by the Amish in America, Ashkenazi Jews the world over, and Afrikaaners in South Africa.  All of these groups have a much higher incidence of named and unnamed genetic disorders in their populations.

None of this really affects Peter's outlook.  His bone marrow has failed, only 5% of his marrow cells are still present, and he will not likely survive too long.  Right now he is still entirely asymptomatic, quite amazingly so.  I had expected to see more tiredness due to his severe anemia, but his stamina seems to be the same as it's always been.  We just have to go from day to day and make the most of every moment we have.

Peter continues to touch everyone's hearts here.  When he reaches out to others, they immediately reach back to him with a warm smile and kind words.  He is so proud that he is back here with "his people".  My traveling companions and I frequently stop and look at each other in amazement as he makes friends with yet another stranger.  I have so many tales to tell!

Tomorrow we will go to Peter's orphanage (Society for Indian Child Welfare) where everyone is waiting joyfully to welcome him home.  He can't wait to slip into his favorite golden kurta-pyjama and present himself at their door.

More soon -- photos, anecdotes and ruminations.  This trip has gone so fast!