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).