Monday, January 23, 2012

A little Down syndrome 101...learning the ropes

Since I was a nurse, I knew a little bit about Down syndrome.  I knew that there was a huge variation in cognitive deficit, and that it was just a "wait and see" diagnosis.  No one could tell you what to expect, because it depended on every single individual child. 

There's a doctor in the area who at the time (and still does to a lesser degree) had a prepare for the worst, hope for the best attitude.  Often, parents would go to him and he would give them a fairly grim picture:  he may never walk; he may never talk; he may never be able to dress himself; he may never cognitively pass the level of a four year old child. 

This was something that my husband DID NOT need to hear.  He was already in a place where we were not having any more babies.  He had a hard enough time watching me go through labor and delivery with two children.  He doesn't do well when I am suffering.  He does not like to feel helpless.  Terry having Down syndrome was the ultimate feeling of helplessness.  There was nothing he could do to make him better, and he really didn't understand what it all meant.  I gracefully declined a visit with the above mentioned doctor.  Even if we were looking at worst case scenario for Terry, it would not do Clint any good to hear it.  He was already devastated, and although I cannot speak for him, I think dads deal with it all completely different than mothers do.  Not that dads cannot unconditionally love their children, I just think that it's...different.

I got a phone call the week after Terry was born.  The genetic counselor called and stated that Dr Hoganson, who is a medical geneticist and is out of Chicago, had a cancellation and that we could have the spot.  It was for the following week.  I asked her point blank what his approach was.  She said he was wonderful and that he would explain everything to us and answer all of our questions.  I was hesitant, but I took the appointment.  It was the best decision I made.

We took Terry in to see Dr Hoganson.  First, the genetic counselor came in and talked about the type of Down syndrome Terry had.   Here's your Down syndrome 101.  There are 3 "types" of  Down syndrome. 

There is Trisomy 31--which is what Terry has. 

Let's go back to reproduction.  A sperm cell unites with an egg cell and voila a baby is made.  Okay, so it's really not that simple.  When eggs and sperm are made, there is a lot of cell division.  We're gonna just talk about the egg but it's the same for the sperm.  There is an egg cell.  It has 1 pair of 23 chromosomes to make 46 chromosomes.  Each pair of chromosomes separates and the cell divides creating two cells with 1 copy of each chromosome.  At this point, the chromosomes replicate creating an exact copy of each chromosome, and again, each cell has 1 pair of each chromosome or 46 chromosomes.  The chromosomes in each of these 2 cells separate again, the cells divide, and what is left is 4 cells with 1 copy of each of the 23 chromosomes.  This egg cell with 23 chromosomes will be fertilized by a sperm cell that has 23 chromosomes, completing the pairs, and a you have a complete set of chromosomes.  This fertilized egg replicates over and over again with 23 pairs of chromosomes into an embryo, then a fetus, then a baby. 

Trisomy 21 occurs when the 21st chromosome ends up with an extra chromosome.  There are 3 instead of 2 after fertilization of the egg.  During one of the cell divisions of the egg or the sperm (but most often the egg), instead of the pairs of chromosomes separating and going into 2 cells, the 21st pair is "sticky" and both chromosomes go into one cell while the 2nd cell gets none, and subsequently dies as it is no longer viable.  Once the egg and sperm combine and there are 47 chromosomes (extra 21st), every time the cell replicates it creates an exact chromosomal copy which always will have an extra chromosome.  It is the extra genetic material on the added chromosome that causes the characteristics of Down syndrome. 

The second form of Down syndrome is Mosaic Down syndrome.  There is an extra 21st chromosome, but not in ALL the cells of the body.  The egg and sperm that joined were both normal having 23 chromosomes each.  During some point in cell division after fertilization, a cell divided incorrectly and some of the cells with have 3 copies of chromosome 21.  This form of Down syndrome is usually pretty "mild" compared to Trisomy 21 as the characteristics and severity are dependent on what cells have the extra copy.  Brain vs muscle, etc. 

The third form of Down syndrome is translocation.  To be honest with you, I don't know much about this except that during cell division a portion or all of the 21st chromosome attaches to another chromosome.   Like Trisomy there is still extra genetic material provided by this segment.  This is usually hereditary where the first two forms are completely flukes.

Okay, back to my post, and the point of it all. 

So we meet with the Genetic Counselor who explains what I just explained and that Terry's form of Down syndrome was not genetic.  My risk of having a baby with Down syndrome at 24 was 1 in 1250 .  Now that I had a baby with Down syndrome my risk was slightly higher, but still less than 1%.  I think in Clint's mind less than 1% was still too much. 

Then Dr. Hoganson came in.  He did a physical exam and pointed out the physical characteristics that he noted, and the ones that were absent.  I actually learned a few things about assessment that day.  I was a newborn nurse.  I looked at every single baby that came through the nursery for the characteristics of Down syndrome.  Some of the most prevalent ones, Terry did not have.  He did not have the Simian Crease.  If you look at the palm of your hand, you have 2 or 3 deep creases that run across your palm.  Many individuals with Down syndrome have one pronounced crease that runs straight across the palm.  Terry did not have the Simian Crease.  Individuals with DS often have smaller ears and they are often set lower on the side of their head (not in line with their eyes).  Terry's ears were normally placed.  He had the small folds in the corner of his eyes and a flatter nose bridge, but neither were as prominent as I'd seen before in other babies with DS.  Individuals with DS may have a larger and protruding tongue.  I only noticed that he thrust his tongue when he was hungry.  Then the doctor pointed out his wider set nipples, the larger space between his big toe and 2nd toe.  He also had the Brushfield Spots in his iris--if you ever look really closely at his pretty baby blues, you'll see some amber swirls. ;)

After Dr Hoganson finished the exam and congratulated us on having a PERFECT and healthy and beautiful baby boy, he sat down across from us.  I sat there with Terry in my arms and tears in my eyes.  What was he going to say? and was it going to ruin all my chances for having more babies because God knows, I wanted a large family, and Down syndrome was throwing a big wrench into the Clint side of that equation.

He looked at us and asked, "Did anyone ever tell you when you had Cailyn that you needed to love her and hold her and kiss her?  That you needed to feed her and change her and bathe her?  That you needed to talk to her and play with her and show her things?  Did they tell you that you needed to pick her up when she cried, feed her when she was hungry, or change her when she was wet?"  A little confused, I answered, "No." He looked at us and said, "Then why do I need to tell you that now?"  He point blank laid it all out there.  Terry was a baby.  He needed to be treated like a baby.  He needed to be loved like a baby.  He needed to be cared for like a baby.  He WAS NOT a diagnosis.  He WAS NOT Down syndrome.  He was Terry.  He was a little brother.  He was a son.  He was our PERFECT baby.  I could just feel Clint relax.  Almost like a sigh.  He was a baby.  Nothing more; nothing less.  I think that took the weight of the world off of Clint's shoulders.

Dr. Hoganson explained that because of Cailyn he would want to do things sooner.  He would try to walk and talk and keep up with her.  She would be his biggest and best therapist.  She would encourage him and be his model, and she would not even realize it.  He also told us she would be special because of him.  She would not know for a long time that he had extra DNA that affected his development and cognitive abilities.  She would just know him as her brother, and as they grew up together, and she did realize that it just took him longer to learn something, she would have tolerance and love and patience and acceptance more than most children her age.   She would be his biggest cheerleader and advocate and best friend.  Which is what she would have been even if he didn't have Down syndrome.

Sure, things were going to take a little longer and we would have to put a little more effort into encouraging and promoting his development, but he would do all the things that other little boys would do.  He said that we had to have hopes and dreams and hold him accountable for his behavior.  He was not a DIAGNOSIS.  He was not an EXTRA CHROMOSOME.  He was a child, first and foremost.

From that day,  tried to forget about his extra chromosome.  He's Terry.  I don't introduce him and promptly say he has Down syndrome.  I do, however, take advantage of every opportunity that presents itself to educate regarding Down syndrome, acceptance, awareness, and advocacy.

So thank you Dr. Hoganson for explaining what Down syndrome is, what it's not, and that no matter what, Terry is a child first, not a diagnosis.

Obviously, Clint got over not wanting more babies (or maybe he just gave in so I'd stop whining).

Sunday, January 22, 2012

Raise the bar and reach for the stars...

The weeks following Terry's birth were difficult.  I would often find Clint holding Terry and staring at him.  It was more than an adoring father staring at his baby.  It was deeper.  I once asked him what was wrong.  He looked at me and said, "He looks so normal.".  My response was that he was "normal", but what did that really mean?  It's funny how one small thing, such as a chromosome, can alter how you view the world; how you look at your baby.

Our friends and family would come to meet Terry, and the most asked question was either "Are you sure?" or "Could they be wrong?".  Not only did we have to keep telling people that he had Down syndrome, like it was an extra birth stat: date, weight, DS, but we had to keep saying, "Yes, we're sure" or "No, I don't think the Geneticist, when counting, accidently skipped 2 to get to 3".  His physical characteristics were very mild. It was hard to see it unless you were looking for it.  But WHY should we be looking for it?? 

I made a very conscious, and immediate, decision at that time, that no action or inaction on my part would negatively impact Terry.  He was normal so why would we treat him in any other manner?  

I quickly moved through the process to acceptance.  It is a grieving process.  The loss of the "perfect" child is a very profound and difficult thing to face.  However, as you move through the process, you find that your definition of "perfect" changes. Terry was perfect, and he was still the same little boy that I gave birth to.  He still had potential and aspirations and hopes and dreams.  He still would grow up, fall in love, graduate, and be a successful and productive member of society.  The limits were still the sky.  I made a choice that he would not receive a "pass" in life because he had 3rd wheel chromosome.  He would be be held to the same expectations as Cailyn, and he would turn out to be an outstanding young man.

Holding a child to high expectations is not a bad thing.  All children want to please the people they love.  They want to make thier parents proud.  They want to receive praise.  If you tell them it's okay to get Cs and Ds in school, only a handful of children will strive for the As and Bs because it's in their nature.  Most will step up to meet the "expectation".  However, if you tell your child that you believe they can get As and Bs and that you will be proud of them as long as they do their best, they will rise to that challenge.  Set the bar high and accept and love them for who they are.  You do, however, have to have realistic expectations. 

So in the very early weeks of my son's life, he taught me a few life lessons.  1.  The definition of "normal" is very fluid and constantly changing and 2. Never let anything or anyone make you lower your hopes and dreams for your child.  Every child is capable of capturing the moon and the stars--you might just have to give them a different net. 

Saturday, January 21, 2012

January 15, 2004

Babies are born every day.  Every baby is different.  Some have brown eyes; others have blue.  Some come out head first; some are breach.  Some meet the world with a loud scream; while others need a little help to get going.

Terry was born purple.  Not normal "I don't breathe so I'm a little blue" blue, but PURPLE.  His cord was wrapped around his neck a couple times, and he was purple.  He's on my stomach, and we're all wiping him off and suctioning him and the nurses are trying to give him my oxygen that is securely attached to my neck when I tell them just to take him to the warmer.

They give him a little blow by oxygen and he pinks up.  Being as I was a nurse on the floor at the time, I'm on the phone with my good friend, Melissa, who was not so patiently waiting for his arrival.  She brings over the pulse ox, and he's fine.  92%--little low but fine. 

Then there is talk about sending him to the nursery.  I do not think he needs to go to the nursery.  He's fine now.  He's pink; his tone is good; he's active; he cries appropriately.  I ask Melissa "Do you think he needs to go to the nursery?"  She gives me a weak smile and says "It's their call".  She cannot override them.  She tells the charge nurse "At least let her hold him before you steal him away from her".  So I get my little pink bundle of joy and get to coo over him for a few seconds before Nurse Kratchet makes Melissa take Terry, and Clint trailing behind for his bonding time, to the nursery.  This leaves me in the delivery room--throwing a fit.  Better word--temper tantrum.

I was MAD.  There was no reason for him to be sent to the nursery.  I was a NURSERY nurse.  I would be the first person to send him over there if he needed to be there.   Melissa would have been the second person to say he needed to be over there if it were true.  Now he was going to go to the nursery and get his bath and cry and get all worn out and not nurse. He would go into his sleepy stage and breastfeeding would be twice as hard as if you get the baby to breast within minutes of delivery when they are alert and active and imprinting on their mother.  I shoved my foot out from under me (since I couldn't move my left leg from my epidural), crossed my arms, and pouted.  I was rude. "Anything else we can get you?"  Nurse Kratchet asked me.  "MY BABY!!"  so she just walked away.

Lucky for me, other people knew how upset I would be that they took my baby away from me, and I ended up with my baby back in my arms approximately 20 minutes later instead of having to wait until I was done with my recovery time in L&D to see him in Mom-Baby.

Melissa put Terry back into my arms and he was so sweet.  He was still smacking his lips, so I was able to get him to breast, and he nursed well.  He was so perfect and sweet.  Every mom counts fingers and toes, but Nursery Nurse moms do the full newborn assessment.  He had all his toes and his fingers.  He didn't have a Simian crease.  His ears were not low set, but maybe a little small.  His eyes had a slight epicanthal fold.  I looked at Melissa and asked "Do you think he looks like he has Down syndrome?"  EVERY. SINGLE. PERSON. IN. THE. ROOM. STOPPED.  I am not exaggerating.  Stopped dead in their tracks and looked at me.   Melissa smiled and said, "Pam and I were talking about it, but we really aren't sure".  I knew it.  It didn't change anything, but I knew.

We were moved over to Mom-Baby where the Pediatrician on call said we could have NICU resident do assessment now vs waiting for regular rounds tomorrow, but since he was stable it was completely up to me.  We waited for morning.  Dr Galbreath examined him and was not convinced he had Down syndrome.  They drew some labs and did an ECHO (heart sono).  It was normal.  That started making me have doubts myself--maybe I WAS being paranoid.  He ended up having polycythemia (extra red blood cells) and had to have a partial exchange in the NICU.  That was an immediate cure. Dr Hocker, the neonatologist, told me that he saw what I was seeing in terms of the Down syndrome, but he "was not convinced".  The characteristics were so mild and his heart was strong and healthy.  He was a perfectly healthy and happy newborn baby boy.  He was all mine, and I was madly in love!!  I started letting myself believe I was wrong--and for the first time in my life, I embraced myself being wrong!

We went home on a Sunday early afternoon.  His sister was so excited to have him home.  She was only 16 months older than him, but she was made to be a mommy just like I was.  She was so cute wanting to hold him and talk to him and tell me every time he cried.  My perfect little baby did what other perfect little babies did.  He cried, he ate, he pooped, he slept, and he made soft puppy dog noises when he slept.

On Monday night, my little sister was at my house and while she was on the phone, the doctor had called to give us the test results for the chromosomes.  After she hung up, I listened to the message and when Dr Galbreath asked me to call him back, my heart sank.  If it was good news, he'd say "all is fine, see you on Wed" not "you need to call me back and here is the back office phone number".  I wrote it down wrong and was on the phone with the call center crying, begging them to get him on the phone.  He softly said, "Terry has Down syndrome".  What else at that point was there to say?  I looked at Clint and we went back into our bedroom, sat down on our bed, and started crying.  Forgotten to us at that time was the baby monitor in the pack and play that was broadcasting our grief to all the guests in our living room.  My father in law, stood up and turned the monitor off, and everyone I was told just sat there in silence. 

We cried and hugged and cried some more and after an unknown but short amount of time, wiped the tears away, walked back to the living room and picked up our PERFECTLY healthy and happy newborn baby boy.

I will not lie.  It was not all okay.  It was not all peaches and cream and rainbows and sunshine. I held that baby boy so tight and loved him so much, but my heart was broken in a million pieces.  I still had a perfect baby boy but I had lost the all star shortstop, father of 2-3 kids, biochemist, neurosurgeon.  All those hopes and dreams we have for ALL of our children.  The same hopes and dreams that change and grow and wax and wane as our children show us their personalities, their strengths, their weaknesses.  Replacing some of the hope were the fears of ignorance and cruelty and abuse at the hands of others.

It took me about 3 days to really get "over" it as much as one does.  I wanted so badly for Terry to not have an extra chromosome, but at the same time I wanted the baby I was holding in my arms, no other.  I could not have it both ways.  At that point in my life I resolved and made it my life's mission to give Terry EVERYTHING he would need to succeed in life, to be a productive member of society, to be the SAME as everyone else in our family.

This blog is going to be me sharing my journey with Terry and his extra chromosome.  There will be some funny stories, some heartbreaking realizations, some advise (both what to do and what definitely not to do!), and just how Terry has impacted the life of every single person he's come into contact with.  I might ask for some guest entries to show some alternate perspectives on it. 

I've always wanted to write a book from the perspective of the mother.  This will be the beginning...the rough draft have you.

You're baby has Down syndrome....NOW WHAT??

My answer to this questions will be lengthy, ongoing, and fluid.  It will be from the perspective of a mother of an older "typically developing" child, the mother of a child with special needs, a registered nurse, and a mom who has her own form of attachment but tough love parenting.  I know that sounds like an oxy-moron but believe me, it works for us.

I am now a mom of FIVE kids.  Yes, life goes on.  Things change.  Things don't change.  Life is about adapting to your current situation, making modifications to fit what you and your family needs, and ultimately, what is right for YOU.  Not anyone else.  No one has to agree with you.  No one has to like it.  We will talk more about that some day soon.  I think it will be an entire blog post.