Perseverance

We must not hope to be mowers,

     And to gather the ripe gold ears,

Unless we have first been sowers

          And watered the furrows with tears.

It is not just as we take it,

            This mystical world of ours,

   Life's field will yield as we make it

               A harvest of thorns or of flowers.

                                  --Johann Wolfgang von Goethe

I spent Mikey's 7 month birthday by getting to know him a little better.  Sometimes, when I miss him I want to look at his pictures or take a nap with his blanket.  But other times I like to look up information on his condition just to remember exactly why he isn't here with us.

After they told us the devastating news about our baby we immediately did an amniocentesis to look at his chromosomes.  They discovered that he was missing a part of chromosome 11.  Although it was good to know that there was a reason that he didn't have half of his diaphragm it didn't help to fix it.  But the doctors thought it would be good to do another test to find out exactly what parts of chromosome 11 were missing.  They called me with the results of that test a few days after he died.  At that time it hurt too much to listen to their conclusions and they didn't really matter to me because they couldn't save him or bring him back.  But lately I've been wanting to understand it better and today I decided I was finally ready to know more and to cope with the details about those chromosomal abnormalities.  So I called the geneticist.

(This part is kind of technical.  Skip to the asterisks if you don't like sciency stuff.  I mostly just want to document it so I can remember.)

Diagram of Chromosome 11

Mikey had a deletion on chromosome 11 from 11p11.2 - 11p14.3.  WAGR syndrome is caused when there is a deletion around 11p13.  Potocki-Shaffer syndrome happens when there is a deletion around 11p11.2.  Some of the genes he was missing are WT1, which is responsible for the "G" in WAGR syndrome and possibly CDH (congenital diaphragmatic hernia), PAX6 that helps to develop the irises of the eyes and is the "A" in WAGR syndrome, SLC1A2, PRRG4, BDNF, EXT2, mutations or deletions of this gene cause multiple exotoses which are sporadic bone growths, and ALX4.  Of course, with a deletion that large there are other genes that he was missing but these are the ones I found today. His CDH was larger than any that I've been able to find and it was on the right side, which only happens in about 9% of CDH cases.

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I was surprised how fun it was to learn more about his physical body and some of the unseen problems he had. Without all those genes it makes me think it was a tender mercy he looked as good as he did when he was born so that his brothers and sisters could enjoy their short time with him and not be distracted by the way he looked.  I still miss him but knowing more about him reassures me that, even though I wanted to, it would have been selfish of me to try and keep him here with us.  We had to let him go.

I'm happy for the knowledge that one day 

the chromosomal deletion will no longer matter.
His little body will be healed. 

None of the genes will be missing.  

He will be perfect.

And after watering the furrows with tears
I will have my harvest of flowers.

I will hold my son.
I will feel his touch, he will know his mother's love.
I will feel his arms around me again. 

That is my reason to persevere.