Thursday, October 28, 2010

Bad Day in Baltimore

Today was our "second opinion" appointment with another MFM up at University of Maryland Medical Center (UMMC) in Baltimore.  We had heard great things about UMMC from our first MFM and from another ARPKD Mom whose son was born, treated, and had a transplant at UMMC.  So going into our appointment today we were pretty hopeful that Dr. Harman would have some hopeful news to offer us.  Maybe there would be a procedure we could try in utero, some additional tests, or maybe he would suggest that a team of doctors at UMMC would take us on and we would ultimately deliver at UMMC.  We just didn't know.

Unfortunately, we weren't prepared for the news we would get from Dr. all.  I mean you would think we would be prepared for the worst, since we've already heard the worst, right?  Oh so wrong.  Adding more medical information to what we had already been told made the news and the probabilities against us even worse.  Basically today went something like this:

- high level sonogram with radiologist; this was a pretty long one and I had some trouble during this sonogram.  She had me pretty much flat on my back today and I kept getting lightheaded.  Plus she had some trouble getting a good look at Stephen's heart, so it took a bit longer.
 - wait for Dr. Harman and wait and wait and wait some more.  Our appointment was at 10:15, we didn't see Dr. Harman until around 12:25pm.  What is up with that?!?!  Why do doctor's all seem to schedule appointments for a certain time, but then you don't see them until 30 minutes after your appointment time?!  Ugh.  So frustrating. But I digress. 

The consultant with the doctor began with a discussion about the lungs and the news was really bad.  The lungs are measured (with some complicated medical measurement) starting at 1.0.  At 1.0 there is no chance of survival.  At 1.6, the baby has a pretty good chance of survival as long as the level of care is really good.  But the baby still faces A LOT of challenges.  Stephen's measurement was 1.2.  And this won't change.  As he grows, his organs like the liver and heart, limbs, and head will continue to grow, but his lungs won't. Steroid injections, which are often given to mother's who might go into pre-term labor, won't help either because Stephen's lungs are actually already mature.  They just won't get big enough.  There's not enough room in his chest/rib cage cavity for them to grow because he's so compressed in my uterus without any fluid.  In technical terms, steroids help Type II lung cells develop and we have plenty of Type II cells.  There just isn't any room for them to grow.  And without functioning lungs, the kidneys then become a secondary issue.  We didn't even really get into the whole kidney thing.

The only somewhat positive thing that we gained from the appointment is that there is a blood test we could do in utero which would tell us 100% if the kidney defect is a chromosomal defect such as trisomy 13 or 18.  Meaning that Stephen could have a third copy of chromosome, instead of two, that caused the kidney defect.  The blood sample is taken through the placenta from the umbilical cord.  Dr. Harman has done thousands of these tests and has never had one adverse effect, so there are (really) no risks involved.  If it turns out that Stephen has a third chromosome, then there is nothing we can do.  No amount of medicine, no doctor, or miracle would fix him.  Instead we would comfort our little guy when he is born as best we know how and help him peacefully enter Heaven.

But if the test comes back negative, than it isn't a chromosomal defect, and we would continue searching for doctors who think that modern medicine could help our little boy.  Dr. Harman was obviously not that guy.  He doesn't want to take on our case and doesn't think there are any babies, ever, who have been in our exact situation and survived.  But we don't agree.  No one has been able to say they know 100% that our baby won't survive.  Maybe his chance is 1%, but that's still a chance.  If the blood test proves differently, than that's a different story.  But until then, we're continuing our search. 

So all in all, today was a pretty shitty day.

Hopefully tomorrow will be better with the pediatric nephrologist.  But I fear every appointment will be like the last.  Let's hope I'm wrong.


  1. Lindsey and Billy
    Read your Blog tonight and want you to know you are in you are in my thoughts and prayers. Even though your news today was discouraging I continue to pray for a miracle.
    Mary Elizabeth

  2. We're thinking of you every day & hoping for the best!

    Kim & Brian

  3. I am so sorry to read your story & in particular, about this one very bad day. Just a few thoughts... perhaps amnio-infusion can help give Stephen's lungs the room they need to grow. Also, UAB (University of Alabama, Birmingham) is the premier lab for genetic testing for ARPKD. Their website is very instructive. If they can identify both mutations (yours & your husband's), they can assist with diagnosis in future pregnancies either thru CVS, amnio, or even pre-implantation genetic diagnosis (PGD) during the IVF process BEFORE you get pregnant.

    Don't be afraid to ask tons of questions and continue seeking second (and third) opinions as you go thru this journey. I found that most doctors are NOT familiar with this disease and several gave us incorrect information, rather than just admitting that they didn't know! You are Stephen's best advocates.

    Best wishes to you and your family.

    --Anne (another ARPKD mom)