Tuesday, July 21, 2009

The Journey Begins: A Prenatal Diagnosis of Down Syndrome

This is a story that I have been meaning to write for a long while. It was difficult for me to begin because it meant reliving a time of great pain in my life. This is the story of how I found out my unborn son would have Down syndrome.
My husband and I married five years ago. I have a son from a previous relationship before I converted to Islam, Nathan. After we were married for about a year I gave birth to our first child together, a little girl named Zainah. Zainah was a beautiful olive skinned baby with light blue eyes and lots of light brown hair. However, it became clear to us, that something wasn't right when she just wouldn't eat and wasn't gaining weight. Finally, after almost three months my pediatrician finally got us into see a pediatric cardiologist, who told us our baby girl would need to be airlifted to Kansas City for immediate surgery. She had a condition called an aortic coarctation, which is essentially a kink in the aorta. The cardiologist also said that there they would do a genetic test to see if she had Turner's syndrome. Apparently, that particular cardiac anomoly is seen frequently with Turner's. Zainah did fine through the surgery, but was in heart failure due to the stress the coarct had on the aorta and continued to need to take diuretics and antihypertensives. During this time, we awaited the results of the karyotype, and finally, we got the call that she did indeed have Turner's syndrome.
Turner's syndrome is a lack of an X chromosome in girls. There are some very subtle physical characteristics associated with the syndrome such as thickening of the skin in the back of the neck, a wide, protruding breast bone, and low set ears, to name a few. The big thing with Turner's is that it affects the ovaries, and they are essentially non-functioning. Therefore, girls with Turner's syndrome are almost always (99%) sterile and also have to take hormones to stimulate puberty. They may also have to take Human growth hormone since low stature is also almost always associated with the syndrome.
Approximately two years later we had our second baby, Somaya, a curly headed, dark eyed girl, who alhumdullilah has always been very healthy. But our worries with Zainah weren't over yet. We soon found out that she had a Wilms tumor, which is a cancerous tumor of the kidney. She underwent surgery to remove the entire kidney and went through chemo for about 4 months. After it looked like her cancer was for sure gone and (hopefully) wasn't coming back, we decided to get pregnant again, my husband hoping for a baby boy.
So at this point in time, I thought for sure that all our troubles regarding our children were over. I mean, how much bad luck can one couple possibly have regarding their children's health? Little did I know that our world was about to change forever.
At this point I want to say that I am about to reveal some of the emotions and thoughts that I had during this time. Some of them may be offensive; they are definitely dark and I don't mean to offend any one with anything I am about to say. I certainly want to stress that these are the feelings I felt at the time and in retrospect, thank God, know that this is not what having a child with Down syndrome is even remotely about.
It all started at 18 weeks when my doctor asked me if I wanted the quad screen performed. I said yes, I had had this blood test with all my others and I would want to know if there was a problem the baby so I could be prepared. I gave the blood and expected to never give it another thought. One afternoon about a week later the nurse from my OB's office called. I thought she was going to call out some antibiotics for the urinary tract infection I thought I had, and had given a sample at that last appointment. She told me my quad screen came back positive for Down syndrome. I remember going into immediate denial. She told me the Dr. wanted to move up my ultrasound appointment to make sure my dates were right, since that can skew the results. I told her no that wasn't necessary. Why did it matter? There was absolutely no way I could possible be pregnant with a child with Down syndrome.
"Do you have any questions?" she asked.
"Do you have the results of my urine test?" I said dumbly.
I hung up the phone and the fear rushed in. I immediately went on the internet to find out everything I could about the quad screen. I learned that the results are given in a ratio. Generally, your results are considered "positive" if that number is greater than the normal risk for your age. I did remember the nurse giving me some numbers. What were they? So I called back.This time it was a different nurse who told me that my results were 1:256 for Down syndrome and my normal risk for my age was 1:350. Well those were good numbers. She also was very kind and told me sometimes she didn't like these tests because they often have false positives and worry mothers for no reason. She told me to try and not worry, she was sure everything would be fine. I told her I did want to move up the date of my ultrasound and so we rescheduled that.
The day of the ultrasound I remember feeling somehow removed from it all. I took my seven year old son with me. The tech looked carefully at the baby and told us it was a boy. Nathan, my son, got a grin on his face because he was happy to have a little brother. When she was done, she told me that everything looked fine with the baby and my dates were spot on. It was good news that the baby looked good, but I had been hoping my dates were off, and that the quad results were wrong.
Fast forward a week later and my husband and I went to see my doctor regarding what we were going to do. My husband really wanted to push for the amniocentesis because he had to know for sure if there was a problem with the baby. He was not at all happy with the prospect of having a baby with Down syndrome and even wanted to discuss termination. I firmly told him there was absolutely no way in hell I would ever, under any circumstances have an abortion. He reasoned it wasn't just my decision to make, that this effected the whole family. True, but ultimitely that would lay on my conscience, not to mention religious injunctions prohibiting it (more on this later...).
We discussed our options with our doctor, continuing the pregnancy with just more ultrasounds which is not diagnostic for Down syndrome but will, 50% of the time pick up markers or doing the amniocentesis. She didn't seem overly concerned giving the numbers and seemed slightly annoyed that my husband wanted the amnio done. I will say, though, that she was very supportive through the remainder of the pregnancy and never, ever pushed termination on me as some providers do.
So I agreed to the amnio, even though I was sure at this point that my baby was fine. I wanted to enjoy the rest of my pregnancy and wanted to put my dear husband at ease. We went to see a high risk OB for the procedure. It really wasn't bad considering she inserted a very large needle into my abdomen. I had a little cramping but nothing major. I left there not worried at all. I declined the FISH test which would have given us the results in two days as opposed to two weeks, so the wait began. During this time I was amazingly calm. My husband kept asking me if I thought the baby was okay, and I did.
Approximately two weeks later the phone rang one morning. I knew as soon as I heard it that it was the call. When I answered I heard my OB's voice on the line as opposed to a nurse and I knew then that the results were positive; My baby had Down syndrome.
"Is this a bad time?"
"No." I said robotically.
She went on to tell me that our baby boy had Down syndrome. She gave me the name of a local Down syndrome support chapter and said a few encouraging words. I remember thinking my voice sounded so cold and forced.
I hung up the phone and just went numb. I honestly don't know what happend in the next several minutes after this. At some point I started to cry. I still felt numb. The reality set in. Pain. More crying. Grief. Sobbing now. My husband wasn't home at this time and since he works late hours I knew I had to keep this to myself for the rest of the day. My seven year old came home from school. I couldn't control my grief and continued crying. He asked me what was wrong. I remember laying with him in his room and telling him the baby had Down syndrome and I was sad about that.
"What's Down syndrome he asked?
"I told him the baby may be a little slower than other people. He may look different. He might not be able to learn the same things as other kids his age.
"Will he be able to talk?"I said yes, but he may talk a little differently.
He shrugged "Okay." No big deal.
This was a small blessing to me even at the time. Children are sometimes so much wiser and less judgemental than us big people.
When my husband came home, he was unloading things from the car and I asked him to come sit down for a moment. He was busy and blew me off. I told him I needed to tell him something. He was getting irritated now, so I just blurted it out. I could tell he was angry. I asked him to come talk to me about it. He left. He was gone for about an hour. When he returned he told me he didn't want to talk about it. He was silent for days afterwards.
It was really hard telling my parents. I didn't want to. I felt like I was to blame somehow and didn't want to disappoint them. I knew that they would be grieving too, and I had enough of that of my own. I felt like I couldn't handle the burden of knowing I was giving that to someone else too. My mom wasn't hard to tell since she already knew about the amnio. She just said she was sorry and that it would be a challege. I don't think she knew what else to say. My dad was harder, my parents are divorced and my Dad doesn't live near me. He just kept saying "God Damn" over and over. He was in shock.
In the meantime, my shock was wearing off and I was descending into my own private hell. I would wake up crying. I would go to sleep crying. I cried in the shower. I cried while driving. I cried at work. I cried when talking to friends. I couldn't sleep because my mind kept playing random scenarios over and over. Would I have the patience to raise a retarded child? Would he be sick and in the hospital all the time? Would people stare at me when I was out in public; would they coo and dote over my baby the way they did the others? Would he have friends to play with? I would always have a child to look after; I'd never be able to do anything independently again. What would happen to him when my husband and I are gone from this earth? Would he have to live in some horrible group home? Would his siblings consider him a burden? I felt nothing towards the baby kicking inside of me. I thought it would be for the best if I miscarried. I looked at different names for him because Yusef was the name I had picked out for my "normal" child.Eventually time passed and the days became a little easier.
Sometimes I would have to push my thoughts to the back of my mind because it was time to move on and deal with it.I realized I really knew nothing about people with Down syndrome. I only knew of the "handicapped kids" that went to my grade school but were generally kept away from the rest of us. I had seen groups of them at the mall or at Walmart, chaperoned by someone, from a group home, no doubt.
One of the things that helped me throught this difficult time was a wonderful Down syndrome and Down syndrome pregnancy support groups at babycenter.com. It was refreshing to see women who were experiencing and dealing with the same emotions I was, and also, women on the other side of it, who already had children with Down syndrome and loved them dearly. At first it was hard for me to look at the children on this website. My child was going to look like them. He was going to have at least some of those physical characteristics. It was hard to think that he wasn't going to be the boy I had envisioned. But he was going to be my boy and I started to suspect that he was about to steal my heart.
And steal my heart he did on Februauy 25, 2009. After a very short labor, he came into this world with a loud, strong, cry. My husband and I immediately fell in love and found ourselves marvelling at just how perfect he was. I stare at him for hours, just as I did with my other babies. Luckily he hasn't had any major health problems. We recieves early intervention services twice a month and they come right into our home and work with Yusef. So far things have pretty much been the same as they were after I had my other kids, except that Yusef is by far the best baby yet.So that's the story of our prenatal diagnosis. Throughout the pregnancy I told everyone that I was thankful for the diagnosis because it gave me time to prepare, but in retrospect I don't know if that was true or not. It was a long, painful, difficult journey and I sometimes wonder if it would have been better to find out after I had my precious baby in my arms, knowing already how much I loved him. I sometimes regret that I spent so much time grieving what my son was, a person with Down syndrome. I forgot that I was actually having a baby, not a monster, not a diagnosis, but the sweet, precious, cuddly bundle that I have today.


blackbat said...

may allah rewad you in this life and here for your patient.

Stephanie said...

Salam Alaikum wa ramatulullahi wa barakatu and thank you.

Zaleha said...

Wow.. you're really brave, and your baby is such a sweetheart.. May Allah S.W.T bless you and your family.. :)

Ghada Al-Amin said...


Thank God for not aborting your baby. My parents were older when I came along, my Mom was 38 and my Dad was 43. Since my Mom's age was a factor, my parents acutally did the same types of test you talked about. This was back in 1983.

Your son came to the earth with Down Syndrome for a reason. I believe when a child comes down to this earth with mental challenges, they are here to teach us lessons. You will learn so much patience with your son. My aunt has a son who is mentally challenged...it has taught her so many lessons about life.

Be patient as he gets older and be patient with yourself. Allah loves you so much that he trusted you with that little boy of yours...

:0) Ghada