Met with Genetics today

Today we have a new abbreviation, CONS.  It is short for Cerebro-Oculo-Nasal Syndrome.  This disorder has some manifestations suggestive of the Holoprosencephalic spectrum.  It is characterized by central nervous system anomalies, and includes HPE in some instances.

What does this mean?  It means that Abby actually had another, apparently more rare neurological disorder, which has many of the same characteristics as Holoprosencephaly, however it is different.  Two of the major physical clues to this were the shape of Abby’s head and the wide placement of her eye sockets, and absent eyes. 

Go figure- we found an even MORE rare condition, with even less research available than HPE.  I have so far been unable to find any evidence of any prenatal diagnosis of this disorder, and most of the research appears to come out of Brazil.

This may seem weird, but I’m sad that Abby didn’t have HPE as we thought.  Or, maybe she did have HPE along with the CONS?  Honestly, I don’t know and it doesn’t really matter since she’s no longer with us. However, I’m glad that her prenatal diagnosis was HPE and not something else. I would never have found Families for HoPE, and would never have been prepared for her arrival.  Regardless of the specifics of her condition, she was a child who had a neurological condition.  The condition manifested itself in many physical abnormalities that we had to prepare for, and there was a great likelihood that her time on Earth would be short.  It would have been a horribly lonely and HoPEless 5 months from the time she was diagnosed until now if we didn’t have the HoPE community.  Thank you for including us, as we so clearly needed you J

The good news is, as we thought, nothing was found that suggests that Matt or I are carriers of the few genes that would make this a reoccurrence in future pregnancies.  As Dr. Abuelo put it, “Abby’s condition was like being struck by lightening”.  So, we can try to get pregnant again when we’re ready, and Connor doesn’t have to worry about passing anything along to our future grandchildren. 

I thought I’d feel happier after getting this news; perhaps thought I would find some closure and comfort in the genetic testing and “go ahead” for future children.  But I really don’t.  No matter how much information you have, or how great you find out your own genes are, losing your child still f’ing sucks. Sorry, I know that isn't terribly inspirational, but it's true.

A Story I Identify with

This past Sunday was the first Sunday of the Advent, and the first candle represents hope.  Our Pastor said "Hope is like light in the darkness." Each time I hear or see that word somewhere I feel like Abby is reminding me she's still with me.

I have a lot on my mind right now, but it all seems to be stuck in my stomach at the moment.  I always seem to have something to say, but right now anything worthwhile seems to get choked back.  Instead, I'd like to share a very well written Perspectives series on the HoPE blog, written by a mom who lost her son a few years ago.  She had a bit longer with her Arthur than we had our Abby, though far less time to prepare for his arrival.  Links to the first two entries are listed below. 

The Thirteen Days of Arthur

We got by with a little help from our friends

If by any chance anyone from Women & Infants reads this, I'd really REALLY like to thank Dr. Bender and NICU nurses Patty and Nancy who came to Abby's service.  That was unexpected, and it meant to much to us that you cared enough to see Abby all the way through.  We couldn't say enough about the doctors and nurses who cared for Abby; they were truly wonderful. Thank you.

Remembering to be Thankful

Tomorrow is Thanksgiving, and it is also Matt’s birthday.  As you may expect, we are in no mood to celebrate anything, but we’ll go to dinner for Connor.  He deserves to have the normalcy of Thanksgiving dinner with family.

Despite the fact that we’re sad in ways that our language is insufficient to describe, there are always reasons to be thankful.  I’m putting some in writing to remind myself should I forget.

I’m thankful for…

• Our family who has shown us immeasurable support through all this.  I don’t know what I would do if my mother didn’t come over each day to make sure Matt and I are still functioning and taking care of Connor.  
• Our friends who have shown support but respectfully given us space to grieve. 
• Our Church community for making impossibly painful arrangements as easy as possible, and for sending over endless dinners along with their prayers.
• The Families for HoPE organization and the entire HoPE community of parents, children, and angels.  As another mother mentioned on the HoPE blog, they really helped us prepare for Abby’s arrival.  
• The Now I Lay Me Down to Sleep organization and Alex Terry, the photographer they sent to the hospital to take our beautiful family photos before Abby passed away.  I was nervous about having a photographer come, but Matt and I are so, so grateful for the beautiful photos she took.  What a gift to give a family going through this.

One of the many beautiful messages we’ve received said I reminded her that motherhood is an honor and a privilege, which we sometimes take for granted. How true that is!  I am most thankful for my husband and son.  Instead of pulling and pushing against each other in our attempt to get by through our sadness, we’re taking turns being strong so we can lean on and hold each other to get through it. 

Coincidentally, November 25^th is also National Holoprosencephaly Awareness Day.  One year ago I had no awareness of this condition whatsoever.  I sincerely thank those family and friends who made a donation to the Families for HoPE in Abby’s name.  Families receiving an HPE diagnosis need this organization for resources and support.

We HoPE your family has a happy and blessed Thanksgiving.

A Few Good Men...Abby's Funeral Day

Matt surprised me two nights ago when he told me he wanted to read the eulogy at Abby’s funeral mass.  Parents just don’t do that; but he really wanted to.  He told me that I took care of her for 9 months and most of her 4 days of life; he wanted to do this as his gift to her.  Matt said, “If you write it, I’ll read it”.  So, together we sat down and talked about what our girl meant to us and to our family.

My Connor is just four years old.  He’s spent the past two days preparing for “Abby’s special Mass”.  When we explained about the casket and the procession, he insisted that he would help his uncles carry the casket in.  “I have to because I’m the big brother.  I have to carry my baby down the aisle.” 

Seriously, I thought to myself, what are these guys trying to do to me?  As it turns out, they both rose to the occasion like you could only imagine.  My husband, who is the life of the party but not what you would call a great public speaker, gave the most beautiful, touching eulogy for our angel.  My son, who sometimes hides behind me going up for Communion, proudly held the handle of his sister’s casket and walked her down the aisle.  He looked like such a handsome little man.  These two guys made me so proud today- thank you Abby, for bringing out the best in your dad and big brother.  Their love for you really shone through today.

I wish I had a picture of Connor “doing his job” as he put it, but I don’t.  Below is the Eulogy Matt gave today.

Prayer is powerful.  We often pray to God when we’re asking Him for something, begging Him in our most desperate hours.  Hopefully we remember to pray to God to thank Him when we are joyful too.  We have spent the past several months torn between desperate and thankful conversation with God. 

Our Abby was with us for just four and a half days, but we’ve been learning from her since she was conceived.  Many parents of children with special needs say that they learn far more from their children than they ever teach them.  We agree.  In fact, we never had the opportunity to teach our precious girl anything, but she has helped us grow and learn in ways we never expected.

Abby, you brought your mother and father closer together as a couple and taught us how to love so much better than we ever could before.  You’ve reminded us that our family is the most important thing in the whole wide world, and that you and Connor are the most precious and amazing gifts God could ever have entrusted to us.  As we grieve for you we also thank God for you, every minute, of everyday. 

No big brother could have been more proud or more excited than Connor.  He loved you from the minute he discovered we were pregnant with you, correcting anyone who asked him about becoming a big brother, “Oh no, I ALREADY AM a big brother!”  He reminds us everyday that he IS your big brother, even though you’ve gone to Heaven.  And he’s right.  You were ours long before you were born and you will always be our baby girl.

We’re so grateful for the short time we had with you.  Each minute we spent with you was a blessing, for which we are so thankful.  We cherished your every single breath and we can still feel your soft skin against us as we held you in your final hours.  Not one second of your life was wasted or taken for granted.  Thank you for letting us love you and for leaving your imprint on our hearts and souls.  We will spend the rest of our days loving you and honoring you.

Abby, with the exception of having to leave you at the cemetery, I pretty much held it together today.  I didn’t want to upset your brother.  But my heart is so broken.  I’d give anything to put you back inside me where I could take care of you. I hope you are making friends and having fun with all the angel babies that you’re meeting in Heaven.

Four and a Half Precious Days

It was the equivalent of a long weekend.  Have you taken an extended weekend vacation lately?  Maybe headed to Vermont to enjoy a few days of the Fall foliage. That is about the extent of my beautiful daughter’s life.  Abigail Grace was born before the sun came up Friday morning and passed away on Tuesday afternoon.  I feel like I blinked and it was over.  Did I even wakeup on Friday morning, was it just a dream?

We knew the cards were stacked against her from the beginning; when we received her diagnosis it was made very clear to us that her condition could mean a very short life, and certainly a challenging one.  Matt took two weeks off of work so we could alternate nights in the NICU after I was discharged.  I made arrangements to work from home with the expectation of multiple early intervention therapies happening each week in our home once Abby made it out of the hospital.  None of that ever happened.  On my day of discharge it all just ended.

It was early, and I went down to Abby’s room to be there for rounds.  When the team finally made it over to 2445 we joined them in the hallway to find that there were no major changes, but that the MRI revealed Abby actually had the Middle Interhemispheric Variant rather than Semi-Lobar as we thought.  Just after hearing that, Abby’s nurses told me it was “almost time”.  I immediately took off my sweater and Abby rested her face against my chest.  I laid there holding her, kissing her head and inhaling her as deeply as possible; feeling like each breath would be her last.  Matt sat right with us, rubbing her back and holding my hand, and then he took his turn holding her for the last time.

Connor left school early to say good bye.  He really just wanted to color, but he gave her a kiss first.  We didn’t push him, as he was nervous.  We decided to give Abby a bath and dressed her in the pink two piece outfit Con had specifically chosen for her to wear home.  It was as I was dressing her that I realized she was no longer with us.  I picked her up and held her to my chest and cried.  It was like I was holding a baby doll, and couldn’t let go.  I don’t remember all of the conversation around me, but I was holding her with tear-filled eyes not paying attention to anything.  Eventually I had to put her down, which felt like the most unnatural thing in the world to do.   

We could have kept Abby around for a few more days on a ventilator, but that wouldn’t have done her any good.  Our objective for her short life was for her to be comfortable and to know love.  We did our absolute best to make that happen for her.  She was meant to get her wings and join the other HPE angel babies. 

I can’t even begin to describe how heartbroken we are.  After we explained to Connor, who has a reasonable 4 year old understanding of death and Heaven, that Abby’s body just didn’t work like his does, he replied “But we have a crib for her.  She can just sleep there”.  Oh Lord, I want her to.  I wish I could have just taken her home and tucked her into her beautiful girly crib to watch her sleep eternally. Instead, this morning Matt and I picked out a tiny casket that she will be laid to rest in after her mass at St. Teresa’s on Saturday morning.  ***We did not print an obituary in the paper, however anyone who wishes to honor Abby with us is most welcome to attend.  The service is at St. Teresa's Church on Newport Avenue in Pawtucket at 10AM, this Saturday, November 20th.

Thank you, thank you a million times for all of the love and support you have offered us.  Our family and friends, our new friends from the HPE community; I can’t even begin to express our gratitude for the support we’ve received.