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The Diagnosis and What Having Down syndrome Means

Posted Jan 27 2009 6:27pm

As my first "official" post for Get It Down: 31 for 21, I want to talk about the diagnosis.

I was lucky when I was pregnant with Aiden. I had a wonderful ob/gyn. She is funny and compassionate. Yes, I said she. I have a belief that if you don't have the same equipment I'm using, then you probably have never gone through what you are about to put me through..

I knew Aiden was going to be "different" even before the official diagnosis. There is something about the "mommy intuition". Something told me that Aiden wasn't going to be the "typical" child. Why should he, it definitely wasn't the typical pregnancy.

In June, I went in for the quad screen blood test. A week later the results came back positive for an increased risk of a neural tube defect. Teressa, my ob/gyn sent me to Dr. Perinatologist #1 for a level 2 ultrasound. The results of that showed that there was no club foot or neural tube defect. However, he saw a calcified placenta and a heart defect. So an appointment was set up with a pediatric cardiologist for a fetal echo cardiograph.

While waiting for the echo, Teressa called me one day and asked if I would come in, that day, for an amniocentesis. I agreed.

Now normally, having an amniocentesis done means that if something is wrong with the pregnancy, most moms would terminate. I had no intention of terminating, but I wanted to know why my little one had a heart defect. I am also a firm believer that being forewarned is being forearmed.

I laid on that table in a dark room with one nurse holding my hand, another nurse holding the ultrasound wand, and Teressa standing there with a huge horse needle getting ready to stick me in the belly. If this was ever the time for an out of body experience, this was it. I just zoned out. I didn't want to watch; I didn't want to know. Before I knew it, everything was all over with and Teressa was helping me to sit up. She explained that she was going to have the results FiSHed so that they would be back before my appointment with the cardiologist who was going to do the echo.

The results weren't back in time for the appointment. The lab messed up.

In late July, I met with Dr. K, the pediatric cardiologist. (For those who have read the blog since the beginning, she is in the same office with Drs. Pediatric Cardiologist and Dr. Secondary Pediatric Cardiologist.) The echo was done and Dr. K gave me the results: Aiden had what is known as an Atrial/Ventricular Canal Defect, hypoplastic left heart syndrome and Transposition of the Greater Arteries. If you are sitting there getting ready to pull up the American Heart Association's website, let me put it in non-doctor terms.

The A/V Canal Defect is a hole in both the upper and lower chambers of the heart. Hypoplastic Left Heart Syndrome is a very, very small left ventricle (the lower left chamber of the heart. And Transposition of the Greater Arteries is where the two arteries that goes to and from the heart are reversed.

Yes, Aiden was going to need immediate heart surgery following birth.

The results of the amniocentesis came back the following week. I was on my way to the tag office to get the tags on my truck before I headed to work. I had stopped off at Quik Trip for a bottle of Nestle's Banana Milk. (Love the stuff, just can't find it anymore.) As I was paying for my milk, my cell phone rang.

"Hello Stephanie, it's Teressa, Dr.______"

Me: "Hi" (Doctors don't call unless it's bad news, if it's good news they wait to tell you in the office. Something is wrong with that, in my opinion. Wouldn't it be better to tell you the bad news in person that way if you faint, at least it's in the office?)

Teressa: "The results of the amniocentesis came back. Aiden (I told her the name at the amnio session) has Trisomy 21. Do you know what that is?"

There was a long pause. I knew the term, I just couldn't place it. I kept visualizing my pregnancy book. (Yes, I had a book. I'll be the first to admit I was a pregnancy moron.)

Teressa: "It's Down syndrome. Aiden has Down syndrome"

After another pause, I said "Okay"

Teressa, "Okay? Did you say "okay"?"

Me: "Yes, it's okay. It's just Down syndrome. At least I have an explanation for the heart condition. Down syndrome isn't deadly, it isn't going to kill Aiden. The heart conditions can."

Teressa told me what the diagnosis could entail. She told me that she has a daughter with Down syndrome and that her daughter was 6 at that time. Teressa explained that children with Down syndrome has mild to moderate mental retardation. She said that people with Down syndrome live long and happy lives.

The next week, I went into the office for a routine check up. As soon as I walked into the exam room, Teressa was there with the "Bible". A stack of information about Down syndrome, information on the National Down syndrome Society, information on the National Down syndrome Congress, the book Babies with Down syndrome: A New Parent's Guide ( Gifts wasn't out at that time), the dvd Down syndrome: The First 18 Months, a huge 3 ring binder from the local parent support group, and the local chapter's calendar. I still have my "Bible".

Inside the binder were the poems, Welcome to Holland and Heaven's Special Child. Both of these poems were written by mothers who have children with Down syndrome. Today, both of these poems hang on the walls of Aiden's bedroom.

Aiden was born 6 weeks later, at 34 weeks. The amniocentesis was right, but the echo was only partially right. Aiden did have a complete endo-cardial cushion defect (A/V Canal), but he did not have the TGA or HLHS. Instead, he had Tetralogy of Fallot and hypo-plasia of the right ventricle. But the heart condtions associated with Down syndrome will have to wait for another post.

Unfortunately, not every woman gets the diagnosis I did. 90% of the pregnancies that receive a prenatal diagnosis are terminated within a week. Most doctors are giving outdated information regarding Down syndrome. With the passing of the Prenatal and Postnatal Diagnosed Conditions Awareness Act (the Kennedy-Brownback bill), hopefully that percentage will drastically drop. Doctors will now have to give recent scientific information. They will have to tell newly diagnosed parents about adoption registries.

There are thousands of families willing to adopt a child with Down syndrome, many of which already have a child with Down syndrome (some by birth). It's not that they feel obligated to "save" these children. These families know the joy of raising a child with Down syndrome.

In the last two years since my diagnosis and Aiden's birth, I have learned what it means to have a child with Down syndrome. It means that there is a little bit of extra work. But it also means that I have met a ton of people who share in the joys of raising a child with Down syndrome. People that I probably would never have met.

I have learned that Aiden is more typical than different. Aiden is learning to drink from a straw, he is crawling and he makes me laugh daily. The other night, I was trying to get Aiden to go to sleep. He was sitting up in our bed and I told him to "come here and lay down". He motioned "come here" to me instead.

Chris and I took Aiden to the fair. Aiden was enthralled. He waved and said hi to everyone. Complete strangers. He doesn't see that people are different from him, he just sees people.

People who should think he is as cute as he thinks he is.

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