May 7, 2009

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:


Wendy said...

Well said my wise friend!!
If only I could write my feelings and thoughts as well but even a very scholarly editor would be challenged with my writings! ;-)

Lori said...

What an awesome, inspiring and sorely needed post. Now hopefully those words will bring people to THIS blog so they can find the hope and encouragement they need. Thanks so very much for putting so beautifully into words what I know so many of us think and feel. I am so glad I found your blog!!!

junglemama said...


Great post!

Heidi said...

Great post! I really wish I would have stumbled upon your blog 2years ago. I struggled a lot after I found out Joel would be born with Down syndrome.

I love how you mentioned that other parents have said if they knew then what they knew now they would not have cried a single tear. I was just thinking that yesterday as I was feeding Joel lunch. I looked at him and thought about how much I love him and how much joy he brings to our lives and I thought if I only knew this 2 year ago.

I have learned not to worry about the future with Joel. Many of the things I worried about before didn't happen and I realized it was just a waste of time and energy. So I try to live day by day and enjoy the moments that we have together.

Brandie said...

Beautiful :)

exnyers said...

:) i hope she finds her way back to your blog. i know how this touched you and i'm so glad you wrote about it.

Monica Crumley said...

This is an awesome post. This really should be published in a magazine! It's so informative and I would've loved to have read this 18 months ago. The best things to help me after the diagnosis was uplifting stories of parents, not medical books. I do hope that woman contacts you. Thanks! I'll be back :-)

mauimom said...

I am sitting here reading your blog while holding my darling 3 week old son who has Down syndrome. Everything you write is so well put. Thank you for the encouragement and information, I will be back often to get another dose!

World of Science said...

The generally accepted guidelines for eligibility of pregnant women for prenatal diagnosis by amniocentesis or CVS are based on evidence that the risk that the fetus is abnormal is at least as great as the risk of miscarriage from the procedure itself.

Beth said...

World of Science,

Thank you for visiting my blog and leaving your comment.

I'm not sure what in my post prompted you to to bring up eligibility for amnio or CVS tests. I am not discussing the specifics of obtaining a prenatal diagnosis or even a screening for Down syndrome. I am talking directly to parents who are in the midst of a prenatal diagnosis, or potential diagnosis, of Down syndrome who are looking for information. I'm giving a brief overview of what kinds of Ds there are and what the diagnosis means to many families.

I see that you are writing from New Delhi (I think), and I'm sure that the ethical considerations for invasive prenatal diagnostics are similar as here in the USA. I do know that many doctors here push invasive testing onto women who are of certain ages or who have had a positive screening result.

Please email me directly if you'd like to continue this discussion.

Anonymous said...

I really like the way you put your story and I'm looking forward to reading some more of your posts, but I'd like to know as to if Down Syndrome was not a problem then why is it caracterised as a disorder? I'd also like to see an adult with Down Syndrome

Anonymous said...

I have just learnt my granchild has downs . I am scared for the future for my grandson and my daughter.I have to say just reading these blog's I already feel better, and starting to open up to to the fact. Hey nana, it wont be bad . so thank you all !! xx

Kat said...

Hi, Beth.

My name is Kathleen. I am 22 year veteran home school mom to 9 kiddos and one sweet baby in Heaven. Our youngest son has Ds. I arrived at your blog in my continuing (9 months and counting) search for the Neuro development plan that is right for our family.

Before I go on with my questions, I wanted to tell you what a great post this is. Despite my medical background I knew very little about what Ds really is. I only knew all the horrible (and not necessarily true) things that we learn in school and that are circulated within the medical community. Posts, like yours, were so helpful to my husband and I when we received the diagnosis when our son was 12 hours old. I hope many other women read this post when they received a diagnosis, particularly those who are struggling with the decision to choose life or abortion.

As for my own questions... since our Addison was born we have been sold on the idea that neuro development is the way to go to help him reach his full potential. As I said I ended at your blog when I searched, "What is the difference between IAHP and NACD?" or something along those lines. It was a few days ago so I can't remember exactly what I typed now. Anyway, we have pretty much narrowed our search down to NACD or a private Neuro Development Therapist. Being who we are, a private therapist would be our first choice but the closest location is quite a distant from our home. And that would not even really be too big of an issue except that they are actually located in Utah and just come to an office about 90 miles away periodically.

But that doesn't really concern you too much, I am sure. I searched your blog a bit on Saturday and ended up reading a bunch of stuff (we had the stomach bug over Christmas, too... no fun!) but didn't find much info on neuro development. What ND program do you use? How did you arrive at that place? And what are the pros and cons? With 15 years of this journey in your pocket, what advice could you give to someone at the start of the road?

I appreciate you giving me your time!