In 1994, our research group reported our experience with- in utero platelet transfusion in a fetus with a rare abnormality called TAR syndrome. (For details see article by M. Weinblatt, B. Petrikovsky, M. Bailer. Prenatal Diagnosis vol 14, 892-896, 1994.) TAR syndrome is an inherited disorder characterized by low platelets and orthopedic abnormalities. Although it can be detected during pregnancy with the help of ultrasound, if nothing is done, as many as 40% of the affected infants die as a result of internal bleeding.
We’ve detected one such baby in utero with low blood (platelet) count and infected him with new platelets. The procedure was a success and the baby did very well. I was not in touch with the patient for many years, until suddenly I’ve received a letter from her (see below). Although she allowed me to place in on my website, I’ve changed the names to protect her privacy.
Dear Dr. Petrikovsky,
I was a patient of yours 14 years ago, my name is Ann Jones. My son Bob was born at North Shore University Hospital. He was diagnosed in utero with TAR syndrome. I have recently seen some articles you had published referring to Bob’s birth. I thought you might be interested to hear how he’s doing.
Bob will be 14 in June. He is a typical teenager. He is an outgoing, happy, confident boy. He is one of three joys in our life. He is very active and plays soccer, golf, basketball and is an all-star baseball player. His first year, he had 2 surgeries, right and left wrists. He has since had 2 other surgeries on his wrists. We are part of an on-line support group for TAR and it has many families giving support and information.
I wanted you to hear Bob’s positive progress. I still remember when you diagnosed Bob you said you had seen 2 cases of TAR. One was positive and one was not. If you ever diagnose another TAR child, I want you to tell about another positive story. You were the only Dr. who gave us guarded optimism. As a parent facing the unknown, all you need is a shred of hope. You were realistic without sugar coating the situation, or like the other Doctors delivering only doom and gloom. I am not sure we relayed how appreciated that was. I have spoken to new moms, whose babies are diagnosed in utero, and are still being told only the doom and gloom. If you have any questions regarding Bob, or ever diagnose another TAR family we would be more than happy to lend support. I hope I hear from you,
Ann Jones