#31/31 Guest Post! Prenatal Diagnosis-A Friend's Journey

After I posted the link to the new Down Syndrome Pregnancy site I received an email from a local friend. Bobbi was enthusiastic about the site since she has a young baby with Down syndrome.  I asked her if she'd like to tell her prenatal story.  Since I didn't have a prenatal diagnosis, I never had the turmoil and roller coaster feelings during pregnancy that comes with an unexpected diagnosis.  Thank you Bobbi for sharing your experiences with us!  Sorry I couldn't get this posted in October, but you make a terrific finale for the marathon month of blogging!
-Beth

My world is Perfect

     It’s fitting for me to be writing this during this month of Ds Awareness because my Ds journey really began a year ago.  In October 2009, I found out I was pregnant. My husband Mike and I were excited, anxious, fearful, happy, but most of all - Scared. It was four more weeks before we saw the doctor and all I could pray for was a heartbeat. We were scared because just a few months earlier we had a miscarriage; we had never heard the baby’s heartbeat.

      Nov 8th:  I made the doctor’s appointment for the last appointment of the day, so if we did have the heartbreak like last time, we didn’t have to worry about going to work or facing the rest of the day.  Isn’t it odd, that while I was going through what should be a wonderful and great experience, I went into defensive mode.  We heard great news!  A heartbeat, or, as the medical world puts it - we have a viable embryo. We were only 8 or 9 weeks pregnant, but went ahead and shared the news with good friends and family.  I was looking forward to hitting the 12 week part and getting past the next set of tests: transnuchal and triple screen. 

     Dec 3^rd : I woke up with a sense that my life was going to change forever. It was ultrasound day, when I’d find out if my “advanced maternal age” was going to be a factor in this pregnancy.    I felt hesitant and tense; however, I put on a great acting job for my husband.  He was feeling anxious and tense as well.  I assured him that all would be just perfect - words to remember.  I also remember telling him that no matter what, we had each other and that we survived our summer, so it was now our time for joy and good news.  Looking back, I said those words to not only convince him but to also convince myself.  We arrived at our appointment and went through the routine of the ultrasound. The technician talked to us the whole time, pointing out the head, arms, and feet of the baby and explaining that she has certain things she measures.  She never explained what it was she measured or if those measurements are OK and we didn’t ask.  As she left, she said, “The doctor will be right back to talk to you”.  I felt my anxiety start to disappear. 

      The doctor popped in and the next half hour turned into eternity.  I don’t remember hearing much except “I don’t have good news.”    “You have less than a 1 in 5 risk of Trisomy 13/18.”   “You are at a 1 in 5 risk for Trisomy 21.”  “You have time before you have to make any big decisions”.

      In addition, he discussed genetic testing options (CVS or amnio) which would tell us exactly what, if any, chromosomal issues were.   I was crying. I was confused.  Through my tears, I remember asking the doctor, what is Trisomy 13/18/21 and what decisions do we have to make? I don’t recall his answers, nor do I recall really much of anything else.  I just remember feeling that I needed to be out of the examining room and I needed time alone with my husband.

      The doctor was very understanding and moved us to his office.  I cried—it felt like forever, but was probably only 1-2 minutes.   How, what, who or why – but clarity came to me and I looked my husband in the eyes and I knew he was thinking the same thing as me ~ we had to know “what is going on”. We would move forward with the genetic testing.  (I could digress into the CVS vs. the amnio procedure since I had both, but I won’t. Suffice it to say I would not recommend the CVS).  

     The week between December 3^rd and 11^th was a time when my husband and I went into seclusion. We cancelled plans, and stopped talking to friends and family. I researched Trisomy 13/18 and 21.  Neither of us talked much – it wasn’t bad or tense--we just kept our thoughts to ourselves.  I remember my best friend sending me a text asking how I was doing.  I replied that I was numb.  I had no feelings, good or bad – I was just numb. I didn’t know how to feel or what to think. 

      December 11^th: Amnio day.  It wasn’t nearly as traumatic as one would think.  I don’t do well with needles at all; however, this was very uneventful.  It literally felt like having blood drawn (I didn’t dare look at the needle).  The doctor did a great job and I left his office feeling hopeful.  At least I would get an answer to the question – “What in the world is going on?”  From there I could make educated decisions about my family’s future.

      Of course, the weekend and waiting was long.  The following Monday and Tuesday dragged out and finally on Wednesday as I was sitting down for a meeting at work, my cell phone rang.  I hopped out of my meeting and took the call in my office.  My doctor then delivered the news that my child has Trisomy 21. Two thoughts went through my head, “Whew! It’s only Trisomy 21!” and then, “Oh my goodness, it is Trisomy 21!”  I asked the doctor if we could meet with the genetic counselor at his office since I knew my husband and I would have a lot questions.  I hung up the phone, and as if nothing had happened, I walked right back to my meeting and participated for an entire hour, fully engaged.  To this day, I’m amazed at how I pulled it together.  After my meeting was over, I walked out and went back to my office, shut the door, and cried. At some point, the genetic counselor called me and we arranged to meet that afternoon.

      Now we were at decision time – we knew the answer to “what is going on”, but what do we do with this information? I was scared.  What if my husband and I weren’t on the same page on how to move forward?  Before we were pregnant, we had talked about my age and the risk. At the time we said that we didn’t care. But now that we were faced with the reality, did we still not care?  I knew where I was in my heart, but I wasn’t sure about him.  I was more upset about the possibility that he and I would not be at the same place with our decision than I was about the actual diagnosis.  I had 2-3 hours to wait before I could speak to Mike.  I thought of all the directions our conversation could go. I was fearful for us.   

    Well, I wasted a lot of energy worrying over nothing because when I walked in the house my husband was at the kitchen counter.  I didn’t say Hi. I didn’t ask him how he was doing – I asked him “Gut check, where do you stand on this?”  He looked at me confused at first, not realizing what I was asking.  When he realized what I was asking him about, he said “Oh, we are having this baby”.  At that point, I just cried and hugged him for a very long time because I knew that no matter what, we were moving forward together.  We both knew that there was a loving child that we created and that no matter what, this child was a part of us.

 

      Later that afternoon, we met with the genetic counselor and after her repeating our “options” to us a few times, I spoke up.  I said that we were moving forward with our pregnancy and there were no other decisions to make.  At that point, I was given a good amount of reading material, websites to visits, and a DSAGR brochure (Down Syndrome Association of Greater Richmond, VA).  Our counselor was very helpful and answered our questions, which mainly focused on potential health problems, quality of life for our child and other general information.   She followed up with a reminder that the doctor would want to see me at 18 weeks gestation so he could look possible defects in the baby’s heart.

    Mike and I left the office and spent the next week or so in mourning. It’s odd to say that we were mourning our child, but it’s true.  We grieved for the child we thought we were having, but were not.  We were lonely because no one else was dealing with this and we didn’t want to be the only ones. We were jealous of our friends having typical kids. I don’t think it is possible anyone can avoid grieving.  Mike and I each grieved in our own way.  Mike was quiet and worried about his child being bullied at school or made fun of.  I cried silently at night and worried about my child’s ability to be independent.  We both worried about the potential health issues that our child could face, as well as being accepted by his peers socially.  We were fearful of what our friends would say, would they support us and would our peers accept us?   I spoke to very few people in those weeks, including Mike.  I knew our families loved us and supported everything we did, but I wasn’t ready to talk. If I talked, I cried.  I received emails with poems and the essay, “Welcome to Holland”. I Googled everything I could find about Down syndrome (and found Hannah’s Shenanigan’s website).  I thought of a dear friend who had a child with special needs and I realized how I never supported her enough. That made me feel like a horrible friend.  I spoke with another dear friend who connected me with her sister whose child has Down syndrome.  I had met the sister over the years, but never her child. It was wonderful to have her introduce me to the world of Down syndrome, to answer our questions, and to give us hope.  She also introduced us to the DSAGR and made our entrance into this new community very easy.

      Finally, on Christmas Eve, I came up for air.  I reached the point of acceptance where I could wipe away the tears, and rejoice in my loving child.  It was time to move forward.  I felt empowered because I knew my child’s diagnosis.  I could educate and prepare for whatever was in store for me and my baby.  I made a promise to my unborn child and to myself that I would never stop educating myself and I would do whatever was necessary to make sure he lives a VERY normal life.  Over the next eight months that is exactly what I did.  I read everything I could.  At one point, I had to remember I was having a baby and needed to put aside the Ds material and learn how to take care of a baby.  Don’t get me wrong, the emotions did not suddenly disappear. I still cried at night when the lights were off and everyone was asleep.  The worst were the dreams I had while pregnant.  You always hear that pregnancy makes you have crazy dreams; mine were crazy and always ended badly.  I would cry often in the shower after a night of bad dreams.  This way Mike wouldn’t hear or see me.  I never wanted to worry him. I would share a few things with him, but not everything because I knew he had his own fears and anxiety.  I felt that Mike and I had an unspoken understanding for each other’s feeling.   For the first 8 months of my pregnancy, it seemed that we would never walk out of a doctor’s appointment feeling the way new parents should feel – happy and excited.  At our 18 weeks check up the ultrasound determined that our baby had a heart defect.  In addition to the regular visits to the perinatologist, the regular OB, we added the cardiologist to the list of doctor’s appointments. To the outside world I handled the process by making light of it all and trying to see the humor. Internally, I would process it, have a private cry and then move forward.  However, after reaching a level of acceptance, I embraced everything and never allowed myself to regret or look back. I could only move forward.   

The grieving process is different for each person. I reached my moment of acceptance much earlier than Mike.   He was very interested in learning along with me, but emotionally we were at different points in the process until March 1^st.  That was the day we emailed a close group of friends the news about Baby J. Up to this point, we had shared the diagnosis with our families and a few of our friends.  This was our first test to see who would be accepting or whether we would have to skinny down our Christmas card list! I wasn’t too worried because I knew our friends loved us.  Mike was more anxious.  As the day moved on and the emails of support and love came back, we knew that we had made a giant step and we were stronger because of the additional support.  I never heard an “I’m sorry” or sadness from our friends (nor from any family member). My email to the group was positive, loving and upbeat.  I told them how blessed and proud we are of our little baby boy and how excited we are to meet him.  I also attached a recent 4-D image of an ultrasound.

      Finally, after the long and emotional pregnancy, our beautiful son – Owen – arrived on June 7, 2010.  Throughout the pregnancy I heard that babies with Ds come early.  But not my boy!  He was right on time and didn’t want to leave his cozy womb. The first few weeks after Owen was born were fuzzy.  I remember the NICU doctor declare that our son was healthy. He wasn’t going to admit him to the NICU unless the cardiologist wanted it ~ he didn’t.  The social worker met with me in the hospital and I could tell she was hesitant and unsure of where I was emotionally.  However, after a few seconds of hearing me speak so proudly of my son, my knowledge I had of Ds, the local support group, early intervention – she left saying I taught her a few things and she would send my referral onto the County for early intervention services.  We told the rest of our friends and co-workers the news of Baby Owen.  More positive support and congratulations came our way.

      Where am I today? I’m a proud mama of a beautiful baby boy.

      I’m watching in awe as he grows and develops.  I love to hear his giggle when his daddy tickles him.  I’m enjoying my time with my family and trying to balance work and personal life.  I’m also re-reading my Down syndrome books and papers because now I have a reference point in my son and things make sense to me.  I’m continuing to educate myself on feeding, speech, and child development (muscles and cognitive).  I’m actively involved in Early Intervention with my son  and thinking about not only the “now” in his life, but the future. I pay close attention and ask many questions when visiting his pediatrician.  I don’t assume anything and keep as much detail as possible. If I hear something interesting about Down syndrome, I Google it or ask another mom.  I’m developing relationships with other families, relationships that I will have forever. 

After the many emotional ups and downs, worries and fears ~ My world is perfect and I wouldn’t change a thing.

       

     

      

4/31 Prenatal Diagnosis Support

Hooray!  There is a new website created specifically for parents who have received a prenatal diagnosis of Down syndrome and plan to proceed with the pregnancy.   It looks great!  There is a free e-book on the site: From Diagnosis to Delivery: A Pregnant Mother's Guide to Down Syndrome.

Since we did not have a prenatal diagnosis, I can only imagine how difficult it is to process all the overwhelming feelings and information of an unexpected prenatal diagnosis.  I know how hard it was for us, even when we could see how beautiful our daughter was with our own eyes.  I am so glad that there is a website with accurate and supportive information for these yet-to-be parents.

If you'd like to help with this outreach, you can make a tax-deductible donation on the site:
Down Syndrome Pregnancy

Prenatal Diagnosis--The Worst Down Syndrome

I recently checked my Feedjit to see how people arrive at my blog.   Many of you seem to be regular readers, since you log in as "direct", meaning that you have a link to my blog.  Others of you come from other blogs that have blogrolls (which I'd have if I wasn't afraid of snubbing someone accidentally by leaving them out). 
     

Others end up here by googling one thing or another.  I've had lots of hits from my Hannah Duston post, probably from unknown distant relatives!   Some Google searches are pretty funny--I had several hits from people searching for "Sick Humor", and when they arrived at Hannigans, all they got was a picture or two of a sick child and some bad kids' jokes. 
                                                         

 But the other day I saw a Google search that made my heart go out.   Someone, most likely a woman who just received a prenatal diagnosis of Down syndrome, searched for "What is the worst Downs Syndrome that a fetus can be diagnosed with?"   It stopped me in my tracks.

Google directed her to my World Down Syndrome Day post.   It picked up key words of Down syndrome, fetus, and worst (the doctors who deliver the diagnosis).  I am praying that something I wrote had some value to her.   But I fear that she did not find what she was looking for.  Not here, and not from any of the other sites that Google offered. Prenatal testing for Down syndrome is not providing the information people need.
                                                      

So, here, I offer words to that woman, and any other person who wants to know and understand the basic mechanics and then, reality, of Down syndrome, and how there isn't really a "worst kind".  
                                                      

 Every child with Down syndrome is unique.  Yes, most of the Ds population has similar characteristics, but there is no universal make and model.  There is a spectrum of ability in the Down syndrome population, just as there is a spectrum of ability in the typically developing population.  The range of abilities and interests, challenges and gifts is just as broad as any other population subset.   There is no "worst Down syndrome".   A person either has it, or they don't. Medically, there are no "levels" of Down syndrome.  Genetic testing does not tell an expecting parent if the child will have an infectious giggle, a stubborn streak, a terrific memory, or a taste for Macaroni and Cheese.  It doesn't reveal if the child will get ear infections or have perfect pitch. Testing doesn't tell if a child will be able to live independently or drive a car.   All it does is tell you there is extra genetic material.       
                                                                       

   I like to think that the extra chromosome makes people with Down syndrome more essentially human than those of us with an average chromosome count. There are difficulties to be sure, but there also is an amazing ability to live in the present.  To cut through all the societal strata.  To live simply and enjoy being alive.
  

  Many people who don't have a personal connection with Down syndrome assume that having a cognitive disability means a person is stupid.   This is not true at all. People with Ds are slower learners, but they are not dumb.  A person with Down syndrome is surprisingly intelligent, usually has a good sense of humor, and has above average ability to transform a bad day into a wonderful day.
                                                       

 I'm not going to try to sell you on all the good points, because I think that it sounds empty to someone who is just starting out. Every parent discovers their own silver lining as they uncover the secrets that hide in the extra chromosome.   Yes, there are some really good parts of having a child with Down syndrome.  And yes, there are some really lousy parts of having a child with Down syndrome. But I think that goes for having any kid. 
  

 Genetically/medically, there are three kinds of Down syndrome.
                                                                                            

 Trisomy 21:  This is the most common form of Down syndrome, making up between 90-95% of all cases of Ds.   This is when there is an entire extra copy of the 21st chromosome, giving an individual a total of 47 chromosomes instead of the usual 46.  Many people like to use the medical terminology shortcut of "T21", as it is more precise than Down syndrome (sort of like using the correct terminology of ALS instead of saying "Lou Gehrig's Disease").   The extra 21st chromosome is present in the egg (usually), or sperm (occasionally) before fertilization occurs.

Translocation Down syndrome has a different genetic setup.  In this case (approximately 3-5% of the Ds population) an extra 21st chromosome (or most of it) is attached to another chromosome (frequently it attaches to chromosome 14, but it doesn't matter where it is--the extra genetic material is present).  Individuals with Translocation Ds technically have only 46 chromosomes, but they have the genetic material of 47 chromosomes.   Again, this translocation occurs before fertilization. 

 The least common form of Down syndrome is Mosaicism.   This is when an individual has a mix of cells--some cells have 46 chromosomes, some have 47 chromosomes.  This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split, creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located.  ( I swiped this mosaic section from DownSyn because it pretty much said what I was going to say, but in a more succinct way.)                          
                                                            

 Mosaicism is hard to get your mind around, but the easy way to think about it is sort of like a grafted tree.  My aunt once had an orange tree that had lime and lemon branches grafted to it.  Three fruits, one tree.  Where the lime branch was attached, all further branches and sprouts were Lime.  The trunk of the tree was genetically Orange.  In Mosaic Ds, a lot depends on where and when the hiccup in cell division occurs.   If it happens early after fertilization, most cells will have 47 chromosomes.   If it happens further along in the zygote or fetal development, all cells that stem from the trisomic cell will be trisomic.  That means an individual could have very few cells with 47 chromosomes, or they could have lots and lots.  There could be lots of branches with oranges and a few limes and lemons, or, it could turn out to be the other way around.  There is no way of telling.  
                                                    

Many people with Mosaic Down syndrome have traits and developmental milestones similar to individuals with T21 and Translocation Down syndrome. Others have fewer traits or markers.  Some individuals with Mosaic Ds are not diagnosed for years or decades!    Mosaic Ds can be difficult to diagnose, since a particular tissue or blood sample may not indicate any trisomic cells at all.   I have a friend whose daughter was tested at least 3 times before they had a definitive Mosaic Ds diagnosis.  
                                             

 All that genetics stuff boils down to pretty much everyone being in the same pot.   If you pull out the very small population with Mosaic Down syndrome who have little or no effect from the over expression of the 21st chromosome, then you are left with about 98-99% of individuals with Down syndrome who fall into the category of mild-to-moderate cognitive impairment.  The range of abilities within this category is varied.   Most individuals with Down syndrome learn to read and write.  Many are able to live independently or semi-independently (this means with some sort of help--perhaps with budgeting or grocery shopping--math seems to be a challenge to many with Ds).  All are able to have meaningful relationships with their families and friends.  All are able to contribute to the world. 
  

Every parent wishes for the very best for their children.   Every parent's heart is full of hope, love and aspirations. An unexpected diagnosis throws parents into a whirlwind of uncertainty.  It's difficult to tell which direction to go, or if there even is a direction.  At first, adding Down syndrome to the picture seems to crush all of the beautiful dreams.   Most families have plenty of ups and downs during the first year.  It's hard to deal with sorting out mixed feelings.  Down syndrome is not a club most people want to join.  There is heartache (I had my share, and occasionally still do).  There is fear (what will happen to my marriage? my other kids?  will this baby be ostracized? financial concerns? can I love this baby?).
                                                        

 I discovered that when I was lost, my child was the one who showed me the path out of despair.  It isn't always about us, and our fears and concerns, however well placed they may be.  It's about a child becoming a part of a family. It's about a family learning how to love and dream again.  
                                                                                                                   
 I hear from many parents of young children with Down syndrome.  Over and over again they say:  If I knew then what I know now, I would not have cried a single tear.

Don't stop searching for answers.  Keep on asking the questions.  Be brave. Talk to that friend-of-a-cousin who has a sister-in-law with Down syndrome.  Email me.  Call your local Down syndrome association.  We're not afraid of the tough questions.  We know what it's like.  We've been where you are.  

If you have a prenatal diagnosis of Down syndrome, please visit this new website:

Down Syndrome Pregnancy.

Sequenom-Prenatal Down syndrome testing

There is a new non-invasive prenatal test that promised to detect Down syndrome with just a blood test of the pregnant mother with 100% accuracy. At the AIA conference back in March, the new test by Sequenom was discussed at length--its cost and impact to families and society. I have been awaiting the news of higher and higher termination rates of fetuses with a prenatal diagnosis of Down syndrome.

But now, ta-daa! We get respite from the onslaught. Last week Sequenom revealed that the release of the new test was going to be delayed due to mishandling of research and test data and results. There is a new lawsuit against Sequenom. It's a class action suit for investors of Sequenom who believe that stock prices were inflated from the inaccurate research.

Financial fraud? We'll see. But I am relieved that there are many growing babies that are going to get to live because of the delay of the test. There are no statistics of how many pregnanies are terminated because of a prenatal screening or diagnosis. It is estimated that between 80-90% of all those receiving a prenatal diagnosis do choose to abort.

For more info on Sequenom, click here. And here.

7-29-09 Addendum: I see that I've been getting lots of hits to this post since someone listed me as a person who hopes Sequenom to fail. Actually, that is not necessarily true. I am not opposed to prenatal testing. I am actually pretty neutral on abortion. For me, this issue is not a pro-life or pro-choice issue. The issue is that the parents who are receiving a prenatal diagnosis of Down syndrome are not getting adequate and current information on which they can base their decision to continue the pregnancy, or terminate. The medical community spends time and money on convincing people that having a child with Down syndrome will lead to misery and does not give a true balanced representation of what life is like with a child with a disability. Parents who have correct information about Down syndrome can better make the decision that is best for their family.

While some may look at Sequenom as a financial investment, I look at it as another hurdle for individuals with Down syndrome to overcome.

For more information on a Prenatal Diagnosis of Down syndrome, please read my post here.