Genetic Testing

Potter's Syndrome.

When Justin and I first heard those words, we had no clue what that meant.  What does that even mean?  Now we feel like PS experts.  For those of you who aren't as familiar with it, Potter's Syndrome or Potter's Sequence, is a fatal syndrome that affects the kidneys, bladder, and ultimately the lungs.  Around week 13 of pregnancy, the kidneys begin to develop.  Luke's kidneys never did.  From conception up until week 13, the baby is surround by fluid from the mother.  Once the kidneys develop and start working, that fluid around the baby is now that baby's urine.  The kidneys produce urine therefore making up amniotic fluid.  Amniotic fluid is what develops the lungs.  So, without kidneys, there isn't urine/amniotic fluid, which then makes it impossible for the lungs to develop and the baby won't be able to take in enough oxygen once born.  So, what ultimately kills them is the lack of oxygen to their tiny bodies.  It's a sequence of events that lead to a fatal outcome.

Once Justin and I got the news that Luke had this, we started asking more questions...

"Can this happen again?"
"Is this genetic?"
"Can we have another baby someday?"

My doctor was almost certain that this wasn't genetic.  He told us and fully believed that our case was a complete "fluke" and what happened to Luke was an "accident".  But as we and members of our family started doing some research, we did find some cases where PS was in fact genetic with other couples, and they had multiple children with the same syndrome.  I couldn't just let that go.  I couldn't imagine going through something like this again.  If the chances of us having another baby with Potter's was significantly high...it would change our plans regarding having more children.  We decided to pursue genetic counseling and see for sure whether or not Justin or I was a carrier for a certain gene that could cause this to happen again.

The first appointment we had was with a genetic counselor at Riverside Hospital back in March.  She was a very sweet lady named Carolee.  She went through our entire family tree, both sides, asking about each family member and if they had any type of genetic disorder.  She got very detailed.  There's nothing on either side.  During our time with her, I flat out asked her...

"Of the Potter's Syndrome cases you've worked, have they typically been genetic?"

She said, "No."

Ok, well that's encouraging! We left that day somewhat encouraged.

By the end of that appointment, she told us that she'd like for us to go see a genetic doctor at Children's Hospital.  For those of you who know Justin, you know that he has hearing difficulties.  There's was one certain gene that links kidney issues and hearing loss.  It's called BOR.  The more Carolee heard about what Justin has, the more she wanted the higher up doctor to explore this connection.  We got a referral to meet with Dr. Santoro.  A couple months later, we met this doctor and she also went over our family history.  She told us that we will need to do bloodwork and DNA testing because the day Luke was born, they only collected cord blood; not blood from Luke ONLY.  Cord blood is a mixture of the mother's and the baby's DNA.

So, fast forward a couple more months.  We wait and wait to hear back from insurance to determine if genetic testing is covered and approved by our insurance.  We finally hear back that it's covered (praise the Lord!) and Justin can go give his blood to be sent off for testing.

They tell us that the results take 4-6 weeks.  Ugh, really?  We are wanting to try for another baby as soon as we can, and now we have to prevent for the next 4-6 weeks at least.  Weeks 1, 2, 3 come and go with no news.  Week 4 comes and I'm hopeful that they will get the results early.  Week 5, nothing.  Week 6 is here.  It's a Wednesday.  6 weeks to the day that Justin gave his blood.  It's also the same week last year that we found out the devastating news of Luke's condition.  It was a very difficult week reliving those memories and emotions, yet also good to look back and reflect on all that the Lord had walk us through and how He never let us go.

My phone rings, it's Justin, and I'm wondering if that's why he's calling.  I answer it and try to gauge the tone of his voice.  Is he happy?  Does it sound like he's been crying?

"Hey!"
"Hi. So, Dr. Santoro called...."
"Ok....and???"
"Everything came back normal.  Negative for BOR or any other gene!!!"

Oh my, talk about complete and utter relief!  And what perfect timing!  In the midst of a very difficult week, the Lord orchestrated this good news to come right in the middle of that week.  What if the news had been different?  How devastating.  I was not only relieved that we had the green light to try for another baby, but also very relieved that my husband didn't have to go through the emotions of thinking what happened to Luke was his "fault" in any way.  It was in fact a fluke and NOT genetic.  Thank you Lord :)

So, where do we stand now?  We try again.  We try to make Luke a big brother :)