Translocation Trisomy 21

*Waiting to see the doctor*

Austin had his 2 month Doctor appointment yesterday. We all know what that entails…shots! Thankfully, daddy was able to go with us and that made everything a lot better. Austin did really well.

I’m still new to this “world” of Down syndrome. I’m constantly educating myself. I asked the doctor what form of Down syndrome Austin had...I assumed he had the most common form of Down syndrome, which is strictly Trisomy 21. This accounts for 90-93% of children with Down syndrome. There are 2 other forms of Trisomy 21 that are considered very rare. Mosaic Trisomy 21 and Translocation Trisomy 21. Austin has Translocation Trisomy 21. What does this mean? Well, this type of Down syndrome occurs when part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. In other words, Austin has the usual two copies of chromosome 21, but they also have additional material from chromosome 21 stuck to the translocated chromosome. In Austin’s case, the additional material from chromosome 21 stuck to chromosome 22.

Most cases of Down syndrome aren't inherited. They're caused by an error in cell division during the development of the egg, sperm or embryo. Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. However, only about 4 percent of children with Down syndrome have translocation. I also read that ¼ of children from translocation inherited it from a parent, while the remaining ¾ did not…it was simply an error in cell division.

In translocation where it is inherited, the mother or father is a balanced carrier of the translocation, which means he or she has some rearranged genetic material, but no extra genetic material. A balanced carrier has no signs or symptoms of Down syndrome, but he or she can pass the translocation on to children.

Ryan and I are going to have our own Chromosomes examined to make sure neither of us are carriers. I WOULD say it’s unlikely, because based on the percentages it is. However, I’ve come to realize that percentages don’t work well with me. After all, I had a mere 2% chance of having a baby with Down syndrome and come to find out, he has one of the RARE forms of Down syndrome that accounts for about 4% of all forms of Trisomy 21/Down syndrome.


*Waiting on the nurse to come in with the shots...he was in such a good mood before they stuck him*

If anything, this only confirms that Austin’s Trisomy 21 wasn’t by “chance.” He didn’t just “happen.” I felt that way before I knew what form of Trisomy 21 he had. I feel that way about all children with Down syndrome. It bothers me when people think of Down syndrome as something “unfortunate” that happens. No one prays to have a child with Down syndrome. I know I didn’t. However, there aren’t enough words to describe how grateful I am to God for giving me Austin. Ryan and I needed him. We didn’t know we needed him, but he’s exactly what we needed.
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*This was taken on our way to the doctor*

A cute video

Just a video for now...it's too cute not to share:) He was in such a good mood, which we all love! We've been at war with Colic, so things have been pretty crazy around here.

I hope all of you are doing well.

More later.

Denise, I'm going to email you, just haven't had a chance yet:) Hopefully tomorrow:)

Don't be sorry because I'M NOT!

I went to my doctor for my 6 (really 7) week check up this week. I informed her that Austin does, in fact, have Down syndrome. I saw her about a week ½ after my C-Section, but we didn’t know the results of the Karyotype test yet. My doctor is very compassionate by nature. Naturally, she told me she was “sorry” and said that she’s sure he’ll bring me many blessings. I replied to her that he already has! I could tell she felt sorry for me and as much as I don’t like that, I know her heart was in the right place. I will always be thankful to Dr. C for delivering my precious baby safely.

As much as hearing “I’m sorry” bothers me, I have to remind myself that some people just aren’t aware of all the advances that have been made regarding Down syndrome. Some people just don’t know what to say! Down syndrome has so many stereotypes and it isn’t what it was 20 years ago. I’m confident that my son will continue to thrive. He WILL do everything that other kids do. It might take him a little longer to do certain things and it might not…but HE WILL do them.

“Now faith is being sure of what we hope for and certain of what we do not see.”
- Hebrews 11:1

If you’re a new parent and have a child with Down syndrome, I would like to encourage you to purchase the book Babies with Down Syndrome: A New Parents' Guide. It sounds like one of those “encyclopedia “ type books, but NOT! I’ve gotten so much out it. It gives you information from birth to age 5. It’s definitely a great resource to have! Just a thought ;-)

I’ll leave you with this beautiful poem by Emily Perl Kingsley. I’m sure a lot of you have read it before, but it never gets old. The words speak so true.


WELCOME TO HOLLAND
by: Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

A lovely weekend

We had our initial visit with ECI last Wednesday. The woman from ECI basically asked a lot of questions and gave us an overview of their program. An Occupational Therapist will come out next week to do Austin’s assessment and then we’ll set and work on his goals.

Austin isn’t a fan of “tummy time.” I’ve even tried it on a pillow. What do you know…he goes to his side to avoid being on his tummy. I’m hoping the OT can give me some pointers because I know he needs to continue to strengthen his neck muscles.







My parents came to visit this weekend. I was so sad to see them leave. Austin thoroughly enjoyed spending time with his Nana and Papa.




My husband gave me this beautiful necklace. I saw it on Kelle‘s blog a few weeks ago and fell in love with it! Turns out, it’s made by a fabulous, creative woman by the name of Betsy. Each piece of jewelry is custom made. You can purchase one of these by going to her website

It's time for me to attempt to finish unpacking. I hope all of you had a nice weekend!

Perfection

Austin saw the Pediatric Cardiologist today. My sweet baby did so well during the EKG and sonogram. I was so proud of him. The sonogram did show that he has a hole in his heart. “A medium sized hole” - as the doctor put it. She said we will monitor it and if it doesn’t close on its own by the time he’s 2 years old, they will go in and close it. Yes, that means my baby would have to have surgery on his heart. That terrifies me. At the same time, God has given me peace. I feel like he has prepared me to deal with this.

Those who know me best know that I don’t do well under pressure. When bad things happen, I normally can’t handle it. I freak out. I can’t deal.

God has given me strength to deal with Austin’s diagnosis. I don’t dwell over it. I remember being in the hospital and having a pediatrician come in my room with a serious look on her face. I could tell she pitied me. She was less than tactful. Perhaps she was speaking from a strictly medical standpoint, but there was no compassion. I informed her that Down syndrome ISN’T a death sentence. Normally, I would have cried and felt so overwhelmed…not knowing what to do. God prepared me, even in the early days.

I often stare at Austin as he sleeps. He is the most beautiful thing I’ve ever seen. Doctors will tell you that some of his “features” are imperfect due to Down syndrome. “ He’ll have delays. Defects. He’ll never do this. He’ll never do that…“ What doctors don’t tell you is the joy and happiness that extra chromosome brings to your life. When I look at Austin, I don’t see Down syndrome. I see a beautiful baby with a mellow and sweet personality. I see big blue eyes that follow me around the room. I love listening to him “test out” his voice. His little sounds are so cute. It’s hilarious to watch him go for his bottle and pacifier like a perona. Yes, he happens to have 47 chromosomes instead of 46. That extra chromosome does not equal imperfection. It’s beautiful. It’s given me so much more than it’s taken. If I were given the choice to choose a child without a disability , I would choose Austin every time. I love how he’s defying the odds. He’s doing so many things the “books” have said he won’t, at least not yet. I’m not saying he won’t struggle. I know there will be struggles, but I think we’ll have more victories than struggles.