The Good and the Bad

Today the doctor told us he sees Charlotte's defects everyday just never in one baby.  It is very unique to have so many different issues but no major chromosomal problems. He confirmed that Charlotte has Spina Bifida.  The sonogram also showed she has one cystic nonfunctioning kidney but the other one seems to be doing well.  This was clear by a full bladder and plenty of amniotic fluid.  Her heart does have a hole but we will learn more about this from a pediatric cardiologist in the future.  He said her foot may or may not be clubbed and the cyst is still large and present.

So because it's unlikely we will have an overall syndrome or disease that will provide a prognosis I asked the Dr. to talk about each issue as if it was the only one.  He said heart defects are able to be corrected.  Sometimes they get better through pregnancy, some have surgery immediately, some years later and still some never require surgery.  So it's a wait and see.

The kidneys are what they are for now.  He said you really only need 10% of one kidney in order to live.  Who knew?!

A club foot (if she has it) is correctable.  Did you know that "NFL Cornerback Charles Woodson was born with severely clubbed feet and went on to win the Heisman Award at the University of Michigan, played in Super Bowl XXXVII with the Oakland Raiders and wonSuper Bowl XLV with the Green Bay Packers. The figure-skater Kristi Yamaguchi was born with a clubfoot, and went on to win gold medals at both the 1992 Winter Olympics and World Championships. The soccer star Mia Hamm was born with the condition and won Gold twice with team USA in the 1996 Olympics and in the 2004 Olympics."  I stole that from Wikipedia :)

The cysts are just a marker for chromosomal disorders and will likely disappear and even if they don't they won't cause issues.

And the big one.  Spina Bifida.  It is a neural tube defect and means that a portion of her lower spine didn't close and is now exposed to the amniotic fluid.  She will have surgery immediately following her birth to close the opening.  The spectrum of SB is huge.  Some people walk, others require braces and or crutches and still others are wheelchair bound.  Many times they struggle with incontinence but over time most can gain control. SB kiddos also retain fluid in their brain and often require surgery to place a shunt that drains the fluid.  95% of SB kids have average to above average IQs.  

So that's my best summary.  Another thing to point out is that because she is one of a kind it is likely that there are other issues that may not show up until later or after she is born.  We really don't have good answers and that alone is frustrating and difficult.

We have gone from grieving the loss of our daughter to struggling to imagine ourselves with a very special needs child.  Lots of tears, anger, frustration, stress, grief...basically if it's an emotion we have had it.  And Jared and I are often on opposite sides of the spectrum ;)

So that's where we are.  I hope I left you with more answers than questions but considering the situation I know it's likely the questions are more abundant!!  Our next step is waiting for the results from the microarray.