Reactions to a diagnosis

Continuing the week of birthday-related posts:


From Aug. 14, 2010, one week after Zack’s birth:

Hello everyone!
Thank you so much for all of your love, well wishes and support since Zack’s birth one week ago. As you’ll see by the end of this e-mail, it’s been quite a long adventure these past seven days for all three of us and each of your thoughtful gestures has helped us move through a challenging time.

First of all, let me emphasize that our baby is perfect. He is our little miracle that has made us the luckiest two people in all the world. I think I can speak for Scott in saying that being a parent has been the most amazing blessing of our lives so far.

Now to the reason for our e-mail.
From when Zachary was first born, our pediatrician at the hospital and several of the nurses in the obstetrics department noticed that the baby may have several of the signs and factors of Down Syndrome. The biggest of these signs was our little one’s beautiful face. It doesn’t quite look like either one of his parents and has things like upward-slanting eyes, a smaller mouth, flatter nose and diminutive ears. The physical appearance of his face was the first and most striking of the signs present in Zachary that prompted a chromosome test to be taken and sent away to see if the tell-tale sign of Trisomy-21 was present.

The hospital pediatrician, who has been amazingly dedicated throughout this entire process, called the lab today on his day off to see if results had been determined. He then called us to let us know that Zachary did test positive for Trisomy-21.


What is Down syndrome?

Down syndrome is a developmental disorder caused by an extra copy of chromosome 21.  This disorder is caused by an error in cell division that results in an extra 21st chromosome. Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence.

The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Through a series of screenings and tests, Down syndrome can be detected before and after a baby is born.

The only factor known to affect the probability of having a baby with Down syndrome is maternal age. That is, less than one in 1,000 pregnancies for mothers less than 30 years of age results in a baby with Down syndrome. For mothers who are 44 years of age, about 1 in 35 pregnancies results in a baby with Down syndrome. Because younger women generally have more children, about 75 – 80% of children with Down syndrome are born to younger women.
It could be years before we really know to what degree Zack will be impaired — if at all! — and so we are approaching this whole thing as strongly and with as much hope as possible. He is our little boy and we love him just as much if not more than before. We plan on giving him every opportunity possible and letting him know that “no” is not an option. There are great programs in our area that will work with Down Syndrome babies from birth to help them develop at the same schedule as most other children, from crawling to talking to school things, etc.

There are many positive signs that perhaps Zack does not have a very serious variety of this disorder…
One of the major factors seen in most Down Syndrome patients are heart problems, often times very serious ones that require open heart surgery or that will seriously affect the person’s life. We went to a pediatric cardiologist the other evening and although we need to go back in two weeks for a re-check, Zachary was clear for all of the major/more serious issues. He did have two small holes in his heart, but the doctor was very confident that those would heal on their own within a year. This is so huge! We are so grateful that this doesn’t seem to be an issue.

Muscular tone is another common sign of Down Syndrome. Those babies with the disorder tend to lay motionless and limp and our boy is anything but that. He is strong in his his muscle tone and squirms and wiggles his way most of the day. He has quite the grip, too! The pediatrician was so impressed with his muscular tone that he started doubting his diagnosis because of it at one point. Go, Zack!

Zachary is a perfect baby! He eats extremely well (and they say those with Down Syndrome usually can’t breast feed successfully — ha! we prove that wrong 10 times a day!), seems to digest things perfectly well (you should SEE some of these diapers!), tries to lift his head, shows us a little attitude now and then and loves to show off his beautiful blue eyes as often as possible. He’s even rolled over to his one side a couple of times now.

We wanted to let you know because you are a part of our support system and because we want you to be aware of why we were in the hospital so long, why we maybe haven’t seemed ourselves the last few days, etc.

We also want to let you all know that by all means, Zachary is a normal child to us. The pediatrician we will be seeing from now on told us that Zachary is the “normal” one and that the rest of the world is screwed up. I believe that. Please join us in watching Zack show the world — and all these doctors and painful tests — that “no” is not a possibility and that you can accomplish anything with love and perseverance, prayer and hope.

We are never given more than we can handle.

Thank you for your continued love and support. Be prepared for many more photos soon!

Wendy, Scott and Zachary

*    *     *

And then the love came flooding in:

I love you more Wendy — and this time it has even more meaning. You are an incredible strong young woman and to share your story with no hesitation that this is not a setback but a “bring-it-on” challenge impresses the hell out of me; you are a very brave person. Only you could embrace this and I am so proud of you.
Zack could not been born to two more loving people and it’s thru your strengths and convictions that he will do great in this world. He has a mild case but none the less he has Down’s and we will all love him just the same and we will challenge him and treat him like we have our other nephews/nieces/cousins. Zack is going to prove those doctors wrong, he will show us all his greatness.
God loves the three of you and I know he will be with you every step of the way.
It sounds like from your descriptions, though, that Zachary will be proving everyone wrong. No  matter what, you have a beautiful son who will always be the light of your life. I can say that unconditionally as a mom, that your boy will be your shining joy, as my boys have been mine. Every gift from God is special.
thanks for sharing the news with us. i said to xxxx when we read this that this little boy could not have better parents, grandparents and the rest of the friends and fam. to raise him. obviously, this changes all the long term dreams you may have had for him but that is life isn’t it? always changing while we are busy making plans.
it is really positive that he isn’t showing a lot of the signs of typical (more advanced?) trisomy-21.  he is indeed a beautiful little boy. if there is ever anything we can do–i know we are pretty far away but ya never know–please let us know.
i can see it in your eyes that you are SO FAR in love with this baby. i do think the world is still his oyster.
You two are the most amazing people I know. Zack could not have been born to stronger, more caring parents. We’re rooting for the three of you every step of the way!
While I wish your Zack did not have to endure this, it does say to me that someone up there trusts you a great deal. I cannot think of a child who will be more surrounded by love, support and opportunity.
I am thrilled for both of you (welcome little Zachary!) but most of all, I’m thrilled for Zachary because he has the best parents in the world. I’m not a super spiritual person but I do believe in God and I’ve always believed that God chooses people for certain reasons and I know he blessed you with Zachary because he’ll have an inimaginably beautiful life with you two running the show! You’re baby is perfect and what ever obstacles are ahead – if any! – I know you’ll tackle them as a family and always emerge stronger!
You talk about you two being the luckiest parents in the world, but we think Zachary is the luckiest baby in the world. He has two parents who will give him all the love and support he needs throughout his life. He will have a life that lots of children will only be able to dream about and he will have opportunites that lots of children will never have.  We look forward to the day when we can have our children play together and they can create their own friendship as we were so lucky to have done ourselves.
What an amazing outlook you have honey.  Zack is going to have a wonderful life because of you and Scott.
First of all, HUGE congratulations on your beautiful baby boy! He is
absolutely adorable!! I am happy to hear that the delivery went well
and that you are back at home resting.

As far as Zack’s diagnosis goes, I’m sure it must have come as a
shock. However, everything is going to be fine! Children with Down
Syndrome have opportunities these days that they didn’t have even 20
years ago, and as you said, you really don’t know yet how he is going
to be impacted yet. He is a completely normal kid who is going to have
a wonderful childhood. You and Scott are great people, and Zack is so
lucky to have you as his parents.

I didn’t write until now because I figured you were getting hit from all sides and needed a break. I just wanted to simply say that I love you and that new baby boy of yours and know you and scott are the number one people for the Zac.
I never expected to see, feel or experience so much love. I felt it right away, those first weeks in August, and I feel it through to this very day.
I love that some of you ask constantly about therapy and new exercises and achievements and then even the “normal” baby stuff. I love that you’re as curious as we are and as interested, too.
I love that you have donated in Zack’s name; that you have RSVP’d to our party this weekend; that you sent an e-mail or a card to say you understand.
I love your love.

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