Rough day!

Today was our appointment with the genetic specialist. It was so much to take in. The specialist was from Children's Mercy, but he saw us at Dr. Ridgeway's office, the perinatologist. Being back in that office was a little tough. I had to relive the "experience" of the last time we were there. And those damn sonogram pictures! Every couple that came out had them.

So on to the appointment. . . the specialist was amazing. He listened and let me interrupt with my thousand questions! Anyone who does that wins my approval! :-) Josh really liked him also. He first looked back through the reports from the doctor and asked us about everything. He made a family diagram starting with our parents, then each of us and our siblings, and finally all our nieces and nephews. We went through and shared health issues anyone had and he asked about our mother's pregnancies.

Next we discussed the fact (which I knew from all the reading I have been doing) that there are multiple issues going on here. Sweet Pea did have Potter's Syndrome (as I had concluded), but the reasons for Potter's syndrome can vary. He said this reminded him of a case he had when he first started working. Considering he was probably in his 60s that wasn't such a reassuring statement. Due to the fact that an autopsy was not able to be performed on the baby we didn't have that data to use. So essentially we are looking at three possibilities. (By the way, he did clarify that Sweet Pea probably had a bladder, but it would not be visible because there was no fluid.)

1. FLUKE
The kidney was MULTIcystic, and the other kidney didn't form. If we have another child there would be no greater chance of any disabilities or disorders than usual.

2. INFANTILE Polycystic Kidney Disease
This would mean that Josh and I each would carry a recessive gene. Infantile polycystic disease is more often than not fatal simply because if there is no fluid in the womb, the lungs don't develop. Any future children would have a 25% chance of being affected by this disease.

3. Polycystic Kidney Disease
This would mean that either Josh or I have the dominant gene. It would also mean that we (Josh or I) has polycystic kidney disease. In this situation the chance of future children being affected is 50%.

So the missing kidney and the cystic kidney are two different issues. . . most likely. The first thing we would have to do is both Josh and I need to have a renal sonogram done to check two things. We would need to check that both of us have two kidneys. Surprisingly, it is much more common than people think to have one kidney. Many people live their life without knowing they have one kidney. He said people only use 1/2 of a kidney to "live on". If one of us has one kidney that could explain the one kidney in Sweet Pea. The other is to see if either Josh or I have a polycystic kidney. If one of us had polycystic disease it should have presented itself by now with cystic kidneys seen on the ultrasound (the only other symptom we might have would be high blood pressure.) This would be extremely important for us to know to deal with our own health as well as our reproductive health. If one of us has this it means the answer is most likely option 3 from above. One of us is a dominant carrier AND we would need to get Brooks in to see a kidney specialist to check his health. (That part scares the crap out of me!!!)

If we both have the ultrasounds and everything looks fine we can rule out possibility #3. After that is where it gets even more confusing. The next step would be to have blood samples drawn to test for the recessive polycystic gene. This would be very expensive and since they don't truly know what was wrong with the baby it will be difficult. Even if they don't "find" the mutation it doesn't mean it isn't there. So pretty much that would tell us a whole lot of nothing! :-) However if they did find the recessive trait in both of us we would have a 25% chance of this happening again.

If we didn't have the recessive trait (although we would never know for sure), at that point we would most likely assume it was a fluke. Which means we would have a 3% chance of having something wrong with our baby . . . just like any other "normal" couple.

Clear as mud right?!?!!?

Really it is like going gambling. We have to decide what risk we are willing to take. He explained that most couples meet, get married, and have babies. As he said, "not many people deal with what you two have dealt with. Your story is tough. This is a very difficult loss and you need to allow yourselves time to grieve." At his point I started to cry thinking about what the last month and a half had been like. He also shared that having a healthy child doesn't mean anything. The possibility of being afflicted remains the same.

Whew! I am sure I have forgotten something, but I know many of you were concerned and wanted to know what we found out. Please continue to keep us in your thoughts and prayers!

"There are things that we don't want to happen but have to accept, things we don't want to know but have to learn, and people we can't live without but have to let go." ~Author Unknown