Saturday, June 18, 2011

1st Appointment with the Pediatric Cardiologist 6/17/2011

   Cathy and I are officially counting the appointment Friday with the cardiologist (Dr Joshi) as a win.  I can't say that we walked away with any good news, but we both felt a little better than we did before the appointment.  No "new" bad news!...  We'll take a win wherever we can find them these days.
   We had an extensive utrasound session with Dr Joshi to examine the heart defect.  Grant was being stubborn (again) so there were a few unanswered questions on this visit, but he firmly believes Grant either has (TA) Truncus Arteriosus OR (ToF) Tetralogy of Fallot.  Both of these conditions are typical with DiGeorge syndrome.  We will have a follow up session in 5-7 weeks to determine which condition he has.  They both require open heart surgery and they both have a 95% survival rate.  If it's TA, Grant will have surgery within a couple days after delivery.  If it's ToF the surgery could be several weeks after delivery.  TA trypically requires 3 surgeries in the childs life, but ToF is usually one extensive surgery.  Dr. Joshi told us he is one of 3 surgeons that do these exact heart repair surgeries at Lebonheur every day.  His confidence and experience made us feel much better.  Grant has a good chance at a semi-normal kid's life (just without the contact sports...we can always play Golf).
   We had a follow-up sesssion with the Genetic Counselor to review the results we received by phone earlier this week.  Grant indeed has DiGeorge Syndrome (22q11.2 deletion).  There is still one pending genetic test (Array CGH) that should be back in a couple of weeks.  The results from this test will tell us exactly how much genetic material is missing and it could give us some insight to the amount and severity of symptoms we could see after delivery.  For now, we should expect speach delays, hearing loss (some, not all), and learning problems.  We were happpy to hear that many DiGeorge kids attend regular schools and the chance of mental retardation is surprisingly low.  With an official diagnosis, we should be able to get the necessary resources (speach, hearing, learning, etc...) so we can be proactive as Grant gets older.
   Next Steps...  Dr. BK in 2 weeks, results from the Array CGH in 2 weeks, and follow-up with the Cardiologists in 5-7 weeks.  Dr BK thinks we will deliver sometime between 9/7 - 9/14.  The goal is 39 weeks.  Thanks to everyone for the support and concern.  We are very blessed to have such an amazing group of friends and family.

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