Tag Archives: chromosome abnormalities

It’s in the Details

 

Ironically, on the way home this afternoon from Boston Children’s Hospital, I spotted a license plate on a blue Beamer screaming by – “DETA1LS”.

It truly is in the details, isn’t it?

When I look at my beautiful baby girl, now five-years-old and full of life and possibilities, I see all the details.  Every time I look at her.  There is never such a thing as a glimpse of this child.

I see every new freckle that has taken up residence on the apples of her cheeks.  I see the speckles of gold and brown in her radiantly green eyes.  I see how every wisp of her thick brown hair falls across her brow.

I see every moment of pain, every scar on her chest and belly.  I see every instance in which that belly rumbled in hunger and jiggled in laughter.

I see the pride in her smile for every word she managed to form and was understood.  I see every wrinkle of her nose for every frustration when she was not heard.

I see ears that beckon me to nibble on them because of the way they stick out and pop right into my mouth when I hold her close.  I see little rosebud lips that worked for years to coordinate something so simple as blowing out a candle.  I see her little overlapping piggie toes that she sticks in my nose after a tubby so that I can tickle them and pretend to gobble them up.

And I see her one perfectly unique pinkie finger with a perfect hooked little nail that tells the world she is one of a kind.  And she is mine.

Today we took a drive up to Boston Children’s to see a Plastics guru we shall call “Doctor T” who has made a career of changing little lives with the most delicate precision of nips and stitches.  I knew of him by way of my sister who lost a fight with a lawn tractor a few years ago.  This was the surgeon who specializes in microsurgery and helped to save her leg.  While taking my sister to a follow-up visit way back then, she stopped to show me a side room in the office.  It was filled with shelves of castings of congenital hand and foot deformities that Doctor T and his partner had transformed.  It was amazing.  I felt an instant ease there.  Like it was meant to be.  We left the appointment knowing that I would someday be back to see Doctor T with my baby girl.

We’ve had our share of ‘specialists’ for RM.  Most have been total blessings that not only have cared for her, but have shaped our lives as a family.  They have sat with us through heavy times and listened to us and our opinions on how to best care for RM.  Today was a familiar visit, and we knew right away that we were in the right place with the right person to care for RM.

We talked about how her pinkie causes her pain when its nail is easily caught on things and tears.  We chatted about her adorable overlapping piggies and hammertoes.  We talked about options, about the importance of certain things that could wait until a time when RM could cognitively participate in the decision-making process.  There was never a moment of urgency or fear.  It all felt right.  There was no rush, the conversation was never hurried.  The details were all there.

We decided to take the most minimally-invasive approach to start.  We will let Doctor T remove a portion of nail-bed that appears to be nonfunctional and he will replace with a skin graft.  So tiny, but could make all the difference.  You know, details.  He heard us speak of the importance of keeping as much of who she is intact.

He listened to our concerns about recovery.  How would he cast her hand so that she couldn’t ruin his hard work?  You know, we’re talking about autism here.  It can’t be that easy.  “No problem,” he said.  He will cast all four fingers together so she cannot disturb the graft.  See?  Details.

When I asked where he thought he’d take the skin graft from he initially replied with the standard groin/hip area.  But then he stopped mid-sentence and said, “Well, wait – she has scars from previous surgeries, right?”  Well, duh, lots.  Pick one.  Aflutter with this whole process of actually talking about details it seemed my brain finally caught up to the conversation and I blurted out, “Her feeding tube site!  There’s a bunch of extra skin there, it’s like a second belly button!”

With a quick nod and a peek of RM’s belly it was settled.  “Oh yeah… That’s perfect right there.  And I can take what I need for the finger and leave just a nice little straight line.  You’ll barely see it.”

You see, her pinkie is something she was born with and to us it matters.  We love it.  It’s special.  But that ‘second belly button’ was something done to her and we have no problem watching it disappear.

And there you have it.  Those crazy little details.

RM gets a pain-free pinkie that is still uniquely her own and a chance at wearing a bikini some day.

Over the SGM’s cold, lifeless body.

But you know…. details.

 

[Ed note: Please don’t forget to lend your support to the Caring for Military Kids with Autism Act (CMKAA) HR 2288 –> HERE <–.  And remember, you can harass your Congressperson several times a day at no cost to you ;0)]


‘Appointment’ is a Four-letter Word

Someday, perhaps as I drift through the pearly gates in the EZ-pass lane, I will get the answer to one of my most burning questions: Why the hell is it that a single task requiring a single phone call to schedule a single appointment can be the most crippling and insurmountable undertaking for some of the most brilliant, capable women on the planet?  I am talking about myself herePardon me if my Snark font is broken. 

I have a ‘to-do list’ like everyone else.  It’s rather large like everyone else’s.  There is nothing too ridiculously overwhelming on that list of mine, unless you count ‘reshaping the world’ a remarkable goal.  I mean really, I would consider a federal bill to make autism therapies accessible for military families a rather cool objective to check off my list. 

I digress. 

I am pretty confident that I am not alone in my quest for an answer to the above.  I have met many incredible women who accomplish more in an hour than most do in a lifetime.  I surely wish I was so motivated.  However, there are these minor tasks on our lists that still manage to elude a great number of us – scheduling appointments.  

Maybe it’s the commitment implied by the word ‘appointment’.  Maybe it’s the going-to and hearing-about-that-too that we are avoiding. 

Lord knows RM has seen her share.  Those first two years were exhausting and we met more docs than I ever care to count again.  When you are claiming hospital parking fees on your taxes, you’ve been to ‘lots of appointments’. 

So I found out yesterday that RM hadn’t been to the eye doctor in three years.  The sheer guilt was motivation enough for me to sit down today and go through the list of specialists she is overdue to see.  Crap.  Neurology.  Cardiology.  Gastroenterology.  Plastics.  Orthopedics.  All overdue. 

Maybe when the everyday is fought so hard for just to get through it, then the rest seems like gravy.  Is it urgent that she see these docs tomorrow?  Well, not really.  Is it important?  Certainly.  

Maybe I just cannot take hearing one more time that my daughter needs something else

I made two phone calls today.  I scheduled neurology for tomorrow thanks to a last-minute cancellation and I requested an appointment with the plastics/microsurgery office about her pinkie finger.  

And then I was done.  

Two out of five ain’t so bad. 

Cheers.


Through the Looking Glass

 “…Because at its core, it’s a message about tolerance.  About compassion.  About allowing ourselves to look past what we think we see and to find out what really is.  It’s a message about difference.  And about moving past fear into understanding.  It’s a message about the world that we are creating for our children.” ~ Jess, Diary of a Mom, “we shall be free

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At a time when Michele Bachmann is getting ridiculous air time touting her ‘family values’ and the ‘bondage’ of the gay lifestyle, I feel called to stand up as a human and say – No.  NO FREAKING WAY. 

Politically, it very specifically states in our own Declaration of Independence the following guidelines for protection of our citizens’ right to be HAPPY:

“We hold these truths to be self-evident, that all men are created equal, that they are endowed by their Creator with certain unalienable Rights, that among these are Life, Liberty and the pursuit of Happiness. That to secure these rights, Governments are instituted among Men, deriving their just powers from the consent of the governed, That whenever any Form of Government becomes destructive of these ends, it is the Right of the People to alter or to abolish it, and to institute new Government, laying its foundation on such principles and organizing its powers in such form, as to them shall seem most likely to effect their Safety and Happiness. Prudence, indeed, will dictate that Governments long established should not be changed for light and transient causes; and accordingly all experience hath shewn, that mankind are more disposed to suffer, while evils are sufferable, than to right themselves by abolishing the forms to which they are accustomed. But when a long train of abuses and usurpations, pursuing invariably the same Object evinces a design to reduce them under absolute Despotism, it is their right, it is their duty, to throw off such Government, and to provide new Guards for their future security.”

These first declaratives of freedom for men have evolved so very far already – to include women, to include people of color and persons with disabilities.  Unfolding slowly over the last hundred years, it has at times gotten ugly along the way and we are far from the finish line.  But we are getting there.  And we must push on to include EVERYONE in these unalienable rights.  Not just with legislation but with action, with compassion, with love and tolerance.

The few, like Bachmann, who insert themselves in front of the camera and consistently spew hate and intolerance under the guise of political posturing for the ‘future of our family values’ shall someday find themselves alone and their voices stifled.  Because the REAL Americans who have yet to gather up collectively to speak WILL do so.  They WILL rise up.  And the message will be clear:  We ARE a country of love and tolerance.  We ARE – at our very core – Patriots.  Patriots in the purest sense.  Patriots dedicated to the founding values of this country.  Values that have continued to evolve and INDEED DO INCLUDE EVERY PERSON.  Regardless of race, gender, sexuality or ability.

Religiously, there are those who speak of ‘God’s Law’, the Holy Bible and the ‘abomination’ that is homosexuality.  I just do not see how anyone who claims to be a follower of Christ could deny fellow brothers and sisters the right to pursue love and happiness and a full life.

So I feel the need to include another perspective – that of a mother to a beautiful little girl with a genetic abnormality.  Someone who was ‘born that way’.

We are all creatures of God.  Created by Him, of His own design.

My daughter was born with a missing portion of her 4th chromosome.  She has physical and developmental disabilities directly related to her very design.  HIS design.

Though my daughter was born with normal, working female genitalia, I do know many children with chromosome deletions that were designed by God with some anatomical differences.  Whether those differences have included both male and female parts, they remain differences nonetheless.  In some cases, the biological gender of a child is truly up for interpretation.

The graphic nature of this conversation may be uncomfortable for some.  But I can assure you these unique children – children of God like you and me – are uncomfortable, too.  Whether their sexuality is affected by physical differences or sexual preference, they deserve love in this world.  They deserve to find a place in this world where they can learn of themselves and find value in the gift they are.  They deserve as everyone does to move beyond judgement and discomfort and learn to walk tall knowing that regardless, GOD, their One Designer, made them as they are ON PURPOSE.  God makes no accidents.  We do.  With our words, our fear and OUR expectations of how WE interpret His design.  So whether my daughter has a working vagina or if she had been born with ovaries and a penis – HE MADE HER THAT WAY.  If her body in its uniqueness defines the desires of her heart, who are we to judge what His plan for her is?  And why would we think His plan included suffrage based on who she loves?
Let me tell you.  When RM was born and we received her genetic karyotype [46,XX,del(4)(q32.2-ter)] we knew immediately that though her DNA said she was a girl, there could be any number of anatomical differences within her affecting her future sexual identity.  That made absolutely no difference in how fiercely we loved her from the start.  It made no difference in our desire to just want her to grow to be HAPPY.  A hysteroscopy at age 3 confirmed that she had all of the normal organs of a little girl.  It was welcomed news, but it was really irrelevant in the bigger picture.  She is our baby.  And we love her just the way she is.

Jesus was sent to us to teach us to love one another.  Above all else, that was the singular gift of Him.  Yes, there were some guiding commandments and basic law that were also handed down.  But like our Declaration of Independence, doesn’t God also have the right to amend those ideals?  He gave us the gift of Free Will – can He not adjust His own judgments as humans move forward?  Thousands of years ago, a baby like mine rarely would have survived in the womb or surely would have died soon after birth.  We have evolved.  We now are witness to medical miracles every day.  Do you really believe that God’s Law has not evolved as well?

A lot has changed since the time of Christ.  A. LOT. HAS. CHANGED.  Unless God Himself comes back around and tells us He hasn’t changed His mind – I simply have to believe that He adjusts and grows as we all do.  HE is watching us and living within us.  He is experiencing the progress firsthand.  As His only Son was sent to do the same, I can only imagine how pleased He must be with those who continue to preach love, tolerance AND acceptance.

And I can only imagine His angst over those who have stepped through the Looking Glass and found Michele Bachmann.
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PS, Michele – Would you have the heterosexual balls to stand in front of a soldier who has sacrificed a limb on your behalf in the name of Freedom and tell that soldier he is worthy of a medal but not of love?  Oh yeah that’s right – you’d deny him the right to serve in the first place.
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[Editor’s note:  I know YOU support our troops!  So please go to CMKAA and show your support for the Caring for Military Kids with Autism Act.  1 in 88 military children are counting on you!]

Recovery Room

In the O.R., she was presented to me for a brief kiss and whisked away to the nursery.  I was wheeled in the other direction to the Recovery Room.  With my sister by my side, it would be nearly eight long, heartsick hours before I would get to hold my baby for the first time.

While waiting to get my hands on her, I remained the lone patient in that recovery room.  Just me, my sister and my recovery nurse – an older woman in her sixties with a thick Irish accent. 

I kept asking, “Can I see her now?” 

This was my only C-section, my son was delivered naturally, so I was alright with the idea that obviously it would take a little longer for me to see my baby girl. 

Several hours went by – nothing.  I was told they were keeping me in Recovery because my room wasn’t ready yet.  My sister and I had long since run out of chit-chat.  I asked her to go down to the nursery to check on RM.  She did, quite a few times.  She’d return with yet another update that yes – RM was a cutie – and that the nurses were still cleaning her up, etc.  How messy could my kid be?

It took everything I had in me to push the words from my lips, each one like a cement block chained to my heart, finally – “Did you see her pinkie?” 

My sister smiled and said RM is perfect.  I replied, “but it looks like it doesn’t have a joint in the middle.” 

The recovery nurse turns around from her desk and says, “that’s nothing – look at mine!”  She holds up her right hand to show a pinkie finger that doesn’t bend.  Smiling, she continues by saying, “I was born with it this way and I’ve done just fine.”  My sister and I smile and chuckle along with the nurse and I feel far more at peace.

It would be a hundred more times over the next few years that I would remember that nurse – her sweet smile and her own perfect, unique pinkie.  I truly believe God sent her to me when I needed to know that my baby girl was truly going to be ok – through it all – through feeding tubes and open heart surgery, and autism.  On the darkest days, I remember His gift of her and the gentle smile she shared with me.  Without question, that woman was the anchor to my faith that would save me, encourage me and keep me focused on the beauty and joy that is my precious baby girl. 

But my heart was aching to hold her, and my soldier was still a day away from holding me and being my rock.  I was still waiting in the Recovery Room…

[Ed note: If you haven’t done so, please support the Caring for Military Kids with Autism Act – HEREWe cannot change the world without first being the change we seek. Thank you.]


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