I just want to know WHY ....

Today at 10:48AM my phone rang.  It was the genetics counselor from Boston Children's Hospital with the last of Elizabeth's test results.  I had spent the last two months holding my breath, waiting for this call.  I stared at the phone for several rings, recognizing the number, unable to move, before I finally answered it.  The last of my daughter's genetic testing had come back with normal results.  I should have been ecstatic.  I should have been jumping up and down.  I should have been relieved.  But instead I felt lost somehow.  I felt like we were back at square one.

So what was square one?  At 27 weeks pregnant I was admitted to our local children's hospital in pre-term labor with excess amniotic fluid and placental abruption.  On the ultrasound they were able to see Elizabeth having a "double-bubble" (an intestinal obstruction) and an Atrial Septal Defect, or ASD (hole in her heart).  I was terrified.  They told us she had Down Syndrome, and we got our first diagnosis.  The results of the amniocentesis would be prove that she did not have it, however, as would the blood they took from her once she was born.

Elizabeth had major corrective surgery on her duodenum at 12 days old, weighing just about 2lbs.  She spent 3 1/2 months in the NICU and came home on oxygen.  She has severe GI issues from the time food enters her body to the time it leaves.  Feeding and oral aversion have been an issue since day one, and we still work with a speech/feeding therapist 3 times a week.  We don't use her G-tube as much as we used to, but she still needs it.  She also receives occupational therapy for sensory issues and is phasing out of receiving physical therapy.  Elizabeth's lungs have long term issues from being born so soon, and she has fairly severe allergies as well.  The hole in her heart has almost completely closed on its own, we got very lucky there.  We currently see a special pediatrician from our local children's hospital as well as a pulmonoligist, cardiologist, geneticist, gastroenterologist, surgeon, developmental pediatrician, and early intervention for her therapy services.

There are times that I feel as though my daughter's entire lifespan has been a search for something to explain this journey - something to explain my pre-term labor, her prematurity, her intestinal obstruction, her GI issues, her eating difficulties.  I feel like I need a reason why. I have to know why. Why were we selected for this journey?  Why us?  We aren't anyone special.  I want to know why we were chosen to have her, why she was meant for us.  I want to know why things went wrong.  I want a diagnosis, I want a name, I want a label.  So often we hate labels and they are a terrible vice, yet that is all I have been grasping for.  I want a diagnosis so I know what the future holds, so I know how to prepare better to help my daughter.  I want to know if this would happen again, should we decide to have a second child.

I have a special needs daughter, but I don't know how to explain what's wrong with her, because I don't know myself.  There is no name for what she has.  We have lots of individual diagnosis, but she doesn't have an all-encompassing diagnosis that would explain everything.  People ask me why she was premature, why she has a feeding tube, why she won't eat like "normal" kids, why she has sensory problems.  There is no quick, easy answer.  They ask when she is going to be better.  I don't know what to say.  Better than what?  Compared to a year or two ago, she's doing phenomenal, she's making leaps and bounds.  I don't know how to explain things about my daughter that no one will ever understand.  And it's difficult to explain something to someone when you're still searching for the answer yourself.

The Down Syndrome diagnosis during pregnancy (while wrong) started us on a road of genetic discovery that I desperately hoped would lead to an answer.  In the process we learned that she has 42 genes on her 4th chromosome that are identical - so for those 42 genes, she got both sets from the same parent.  We don't know which parent.  And unfortunately, no one could tell us what that meant.  Those genes aren't associated with any known conditions or diagnoses that correlate to her birth defects.  Our local children's hospital, while wonderful in many areas, is lacking in experienced genetic specialists.  They tested for 22Q and a few other things.  Everything came back negative.  I was searching, searching, searching for answers. 

Elizabeth's speech therapist suggested Boston Children's Hospital, so I asked her pediatrician if we could go for a second opinion.  In doing so we met wonderful clinicians and doctors - brilliant, caring people who spent more than 3 hours with us, late on a Friday afternoon into the evening.  They explained what they think happened with Elizabeth's GI system during embryo/fetal development, and that they didn't think it was related to her chromosomal anomalies.  They saw her heart as unrelated to both the GI and chromosomal issues.  Still, they saw some things they wanted to test for, so we had blood drawn and sent out.  FragileX came back negative a few weeks ago, and today TBX1 came back negative as well.  Boston offered to send us to a privately funded organization for whole exome sequencing, but only 30% of the people that go get an answer. But at what point do we stop searching for an answer we may never get?

While I am happy that the last test result came back negative, I also feel frustrated and lost.  Part of me wanted one of these tests to be positive, if for no other reason than I need an answer.  I need a condition, a name.  I feel like Boston was our last chance for a concrete cause, or reason, or diagnosis.  At this point I don't think we're ever going to get that.  I don't think I'M going to get that.

And perhaps that's what this is.  Perhaps this search hasn't been so much to find a diagnosis for my daughter, but to find an answer and closure for myself.  As her mother, and my body her first home, I want to know that I didn't cause this somehow.  I want to know that I didn't do something wrong.  I want to know that her health issues aren't my fault.  Sometimes I think that's what a lot of us are searching for - peace of mind that nothing could have been done differently, that it wasn't our fault.  Peace to know that the guilt we hold so dear, so deep is not warranted.

It's strange, because it's not as though an answer would change or fix anything.  She would still have the same medical issues and challenges.  The outcome wouldn't be any different.  We would just know why it happened.  So why is an answer so important to me?   I'm not sure.  Would it make me a better mom?  I don't think so.  It is hard for me to accept that "these things just happen", or that this was part of my life's path, or everything happens for a reason, or that this was meant to be.  I am a very logical, calculating, type-A person.  I want to know why. I need to know why. And the harsh reality is that I will probably never know why. After years of searching, we have pretty much exhausted our options.



And maybe that's why the phone call this morning was so disappointing - because this was our last real hope for the answer so that I so desperately seek.  At this point there are no more specialists, no more tests.  There is only acceptance of the unknown.  We join the ranks of the undiagnosed.  We just have to accept that we defy the odds, that she is the 1% (actually she is 1 in 12,000 for duodenal stenosis caused by an annular pancreas - add in the other birth defects and chromosomal anomalies, and she is 1 in ..... some very big number).  We have to accept that things happen and not every pregnancy goes as planned.  Or rather, I have to accept that.  I know that there is a reason why she was born the way she was.  Maybe someday I'll find it out.  Until then, I just have to look at her beautiful smile, try to have faith in something greater than myself, and believe that things happened just the way they were supposed to .... even if I don't know why.

MOM Note:
At a recent conference MOM was able to speak with a few of the different agencies that offer Whole Exome Sequencing (as well as many other genetic panels). We talked with a rep from Transgenomic that told us that they know that the high costs of these test often take them off of the table as options for many families. Transgenomic will perform most test (with a script from your doctor) for $50 or less. This $50 may include testing parents and immediate family members as well- and they can come to you. According to their website and marketing material, 85% of the US patients are eligible for testing at this price. If you are looking at having genetic tests done for your child, and are worried about the cost, you may want to give them a call.