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.

Wednesday, June 15, 2011

DiGeorge Syndrome... Really?

Dr. BK called back with final results from the genetic testing and they have confirmed that Grant has DiGeorge Syndrome.  Cathy and I gave blood last week to be test and neither of us were a carrier.  This is one of those things that just happen for no apparent reason. For now, we know as much as we can know  prior to delivery.  There will be more ultrasounds that may give us some information, but we just won't know how severe his symptoms are until after delivery and even years later.

Next Steps...  1st Appointment with the cardiologists on Friday 6/17@ 8am to sort through the Truncus and VSD.  We will also have a counseling session with Dr. BK to review the genetic findings and what we can expect after delivery.

I look forward to a post where I have some good news to share, but none to be found lately.  Click on the link below to learn more about DiGeorge syndrom:
More to come after our appointment on Friday morning.

Wednesday, June 8, 2011

Today's meeting with the Genetic Counselor 6/8/2011

   Yesteray Cathy got a call from Dr. BK...  The 2nd round of amnio results came back abnormal.  I can't tell you how this completely took the wind out of our sails.  We were delighted about the preliminary amnio results (normal - see previous post), but that feeling was short lived.  They indeed found a chromosmal disorder (Chromosomal Translocation), but more testing will be required to determine exactly what is going on.  They "suspect" Grant may have DiGeorge's syndrom for 2 reasons (1) Truncus & related heart defects are common in DiGeorge's (2) The abnormal amnio indicated a problem on chromosome 22 (which is where DiGeorge's has missing genetic material). 
   What now?...  They will do additional genetic testing over the next few weeks to determine if Grant has any missing or extra genteic material (unbalanced translocation).  We are hoping that Grant has a Balanced Translocation (nothing missing and nothing extra, just not arranged correctly).  Some people have a balanaced translocation and never know it (no symptoms). Cathy and I gave blood today to be tested as well.  Either of us could have the same condition, we could be a carrier, or we could both be clear.  If either of us have the same translocation (and not know it), it could be good news for Grant that he could also not show any symptoms or signs (wishful thinking I guess)
   For now, we wait to hear the final results from the Amnio testing (2-3 weeks...)  Within 3 weeks we will know everything we can know during pregnancy (genetically speaking).  We have our first meeting with the Cardiologist on 6/17.  I am very curious to see what he says about Grant's heart defects.
   Thanks to everyone for the love and support.  We are very fortunate to have such wornderful friends and family to lean on.