Meeting with the geneticist

I met with a geneticist yesterday.  After getting Mabel’s autopsy report, I still had some lingering concerns.  I loved my daughter so much and it pains me that she had to have once ounce of suffering.  I don’t want her siblings to have to face the same battles.  Knowing what I know now, if there is anything I can do to prevent or prepare, sign me up.

The geneticist is an older man with kind eyes and a gentle voice.  We met with him once during pregnancy to give us some insights on what to expect in pregnancy and beyond with a baby with Down Syndrome.  He told us many reassuring and many scary things in a soft voice.  I liked him.

He had reviewed the autopsy with the pathologist and they had done all sorts of research.  Mabel had cystic dysplasia in her hypoplastic kidneys.  These defects, though uncommon, are seen at a higher rate in the Down Syndrome population than the average population.  He was saying that Down Syndrome is the likely explanation.  If this was seen in a child without Down Syndrome, there could be a small concern that there is a possibly hereditary condition- mulitcystic kidney disease.  If that were the case there would be a 5-10% chance of either a parent (me and Chris) or a sibling (Mabel’s future brothers and sisters) would have the condition.  That said, even if that were the case, it would be extremely rare to have a case as severe as Mabel’s.  This is not the likely scenario, but if Chris and I decide we want even more reassurance we can each have our kidneys ultrasounded to ensure we don’t have multicystic kidneys.  My general impression is that he thought it wasn’t necessary but it was an easy reassurance to get if we wanted.

I don’t know whether we’ll decide to further testing or not.  I left the meeting feeling comfortable that Mabel’s life-limiting issues were related to the Down Syndrome, which was a random event.  It really hit home that what Mabel had and what we experienced as a family, was like being struck by lightening.  Literally.  I already calculated that the chance of me having a baby with Down Sydrome with a kidney problem is 1/100,000.  The risk of that kidney defect being fatal?  Extremely rare- no numbers available.  The chance of being struck by lightening in the US in a year is 1/500,000.  I think it’s safe to say I have a better chance of being struck than this happening again.

This doesn’t mean that I can see worry-free pregnancies in my future.  This experience has taught me that nothing is certain.  I’ve lost that sense of security.  I’m ok with that, a little sad, but ok.  I accept it.  I want others to understand it.  If you got struck by lightening, wouldn’t you be scared of thunderstorms?

Oh and as I was leaving, I told the geneticist to say hello and thank someone in his department that was kind to me in pregnancy.  He said “you know she’s pregnant?”  I did not know.  It’s wonderful for her.  I thought about how hard it must be to be pregnant while working with pregnant women and all sorts of difficult news regarding genetics.  When he said that, I thought both how wonderful and how hard.  I also thought that I wish he kept that news to himself.  I didn’t need to know.

The Autopsy

Friday afternoon at 3:45p I got a call from the pediatrician.  We had picked one out and met with her during pregnancy, so she was familiar with what we were expecting.  We chose her because of her reputation in the OB community and her familiarity with Down Syndrome.  She was direct, knowledgeable and caring.  The day after we lost Mabel, the on call pediatrician from her group visited us in the hospital, which was kind, especially because there was no baby for him to examine.  Our chosen pediatrician called us in the weeks following to express her condolences, see how we were doing and offer us help in the future if we needed it.  And late Friday afternoon she got her chance.  When I first answered the phone I assumed she was calling as a follow-up, but she asked if we had received Mabel’s autopsy report.  When I told her we hadn’t, she invited me in to pick it up and review.  Luckily she was in the office that was 5 minutes from my house, so I hopped in my car and headed over.  I was surprised it was back so soon because we were warned it could take months.  When I arrived at the office, I told the front desk I was there to pick something up from the doctor and gave them my name.  They asked me what I was picking up and so I said “my daughter’s autopsy results.”  Funny how these are words I have to say.  Right up there with “my daughter died.”  It’s still so surreal.

We opted for an autopsy because as I had said before Chris and I are information seekers.  And knowing a reason helps me process.  We had a very good working theory on what happened- Mabel had an unseen urinary tract obstruction that led to water back up in the kidneys, causing significant damage.  I really wanted to know if that theory was correct, to see if Mabel had any other issues and to confirm that nothing had a chance of recurring in a future pregnancy.

I am pretty familiar with medical jargon in general and have become increasingly familiar with fetal kidney terminology.  But reviewing the autopsy was at first daunting.  Essentially this is what it said:

• Mabel had Trisomy 21 (Down Syndrome) and some features that were consistent with the diagnosis
• Mabel had hypoplastic lungs and evidence of hyaline membrane disease (the old terminology for Respiratory Distress Syndrome)
• Mabel had congenital heart defects- a large atrial septal defect (hard to diagnose prenatally) and a ventricular septal defect.
• Mabel had had hypoplastic kidneys with cystic dysplasia and dilated ureters.

In short, very few surprises.  The heart defects were a new diagnosis, surprising only because she had a normal fetal echo, though heart defects affect up to 50% of children with Down Syndrome.  I don’t know if the type and size would have required surgery, but I suspect they might have.  In retrospect, I am glad I didn’t know- it doesn’t change anything and it would have caused me more worry- how would my baby survive if she had failing kidneys, compromised lungs and needed open heart surgery?  A part of me wonders if knowing would have made me come to terms with the fact that Mabel would likely die, but even with the diagnosis of heart defects, there would still have been hope.

My big focus on the autopsy report was her kidneys.  They were described as having “cystic dysplasia.”  What I wanted to confirm was that it wasn’t polycystic kidney disease- a genetic disease that could affect future pregnancies.  What I went through with Mabel was hard enough; I don’t know how I would do it again.  The pediatrician didn’t think that description meant polycystic kidneys, but wasn’t certain.  She offered to put us in touch with a pediatric nephrologist if we wanted.  I wanted to review it with my doctor and midwives first, to see if they had any input.  My doctor seemed pretty confident that they would have clearly defined them as polycystic if they were and noted that if there were any concern for future pregnancies, the doctors in the NICU would follow up.  This is true because I have seen that with my own patients.  But of course, I wanted to be totally sure.  I thought about contacting pathology of the NICU doctor we met with prenatally- but I couldn’t even begin doing that until Monday.  I am not known for my patience (but have gotten more skilled at waiting with this pregnancy).  So I consulted Dr. Google and my medical websites.  After reading the fine print details of the autopsy (description of how the cysts were shaped and how many, etc), I am confident too that they were not polycystic.  I think the technical term is obstructive cystic dysplasia, which can come from kidney damage due to obstruction.  When it’s bilateral, it’s always fatal.  And bilateral multicystic kidneys are four times more common in girls than boys.  How funny- I thought Mabel was a boy because kidney problems in general are more common in boys- but not this one!  And the dilated ureters fit that picture too- they dilated when there is an obstruction.  The best news about the obstructive cystic kidneys is that they are not hereditary.  The obstruction was likely due to the Down Syndrome and since the Down Syndrome was random, this scenario is very unlikely to be repeated.

When I first reviewed the autopsy report I was a little emotional, but not for the expected reason.  I was so concerned that she had polycystic kidneys and what that would mean for future pregnancies.  It actually wasn’t hard to read my daughter’s autopsy report; there was some comfort in it.  It felt like I was reading more of her story- like reading her prenatal records or looking at her photos.  I take comfort in it, perhaps because it is more proof that she existed and gives reasons for why she couldn’t stay.  She was a sick little baby- sicker than we even thought.