[Ellen McDonough]

Hi Ruth,
Thank you for answering.
My son aged 12 was born very premie and has had learning /developmental delays. He had some odd tics that began last year and was seen by a pediatric neurologist who ordered a chromosomal microarray.The results came back abnormal showing a 1p36 deletion and a 1q22 gain. So my hsband I were tested . My blood tests came back showing the exact same deletion and gain. My son has seen a pediatric geneticist who indeed confirmed my son has 1p36 deletion syndrome[ a milder form]. I am supposed to be seen at the University of Colorado adult genetics clinic but am awaiting an appointment to be scheduled.
I just wonder if there could be any relation to chromosomal abnormalities and severe aplastic anemia. My mother has idiopathic cardiomyopathy which no one has been able to tell the cause of. My sister has multiple sclerosis as well and has recently been diagnosed with a 6 cm mass in her brain .She is being worked up currently to find out what it is. So I am wondering if there are chromosomal problems in my family possibly? I also wonder how much at risk my son is for autoimmune diseases because I have aplastic anemia and my sister has MS. My sister declines to be tested for genetics testing.
So that is what has been on my mind and I thought I might email Dr Maciejewski before my appointment to see if he might have expertise.
Thanks again,Ellen