Down syndrome

[Upgradable]

Date: 10/19/2008 2:32:29 PM
Author: lisa1.01fvs1
This has been a very valuable thread for me and there is absolutely no 'piss-off' material here!

It is so good to read about family functioning and 'outcome' since in preggo-land everything is so abstract and theoretical.

Forgive me, but my experience w/ genetic anamolies was mainly with the shocked parents who were in the completely unprepared group with infants who were extremely critical. Perhaps had they pursued ultrasound and had support their initial experience would have been different. Although, I am not familiar with when various congenital problems can be detected (considering that termination is already late after amnio around 19-20 weeks). Would there be enough time to detect problems within the fetus in time for possible termination if going by ultrasound evaluation post DS dx by amnio? In my state 24 weeks is the cut-off, a very uncomfortable cut-off.

In some ways being abstract and theoretical helps clear the mind for what is a huge emotional unknown.

Hi Lisa. Glad you came back for more!! I'm not surprised most of your experience has been with shocked parents, because at birth that is the most common state! Giving birth to a child with a disability is akin to experiencing death. People go through what are commonly referred to as the Five Stages of Death, described by Elizabeth Kubler-Ross: 1) denial, 2) anger, 3) bargaining, 4) depression, 5) acceptance. These stages take various amounts of time to go through, and sometimes you backtrack. I know that several times I went from depression, back to anger and bargaining again. Depression is something that can creep back in again and again.

As for termination, there is plenty of time after diagnosis for a second term abortion, usually in an inpatient setting. As for after the identification of severe malformations that make not be identified until later in the pregnancy, I believe that when there are matters that threaten maternal/fetal life the medical community has quite a bit of leeway on intervening. Now, I'm strictly talking clinically.

Emotional effects of these diagnoses and actions are huge no matter the decision made or the intervention taken. In my personal case, again, I'm glad I did not know because of the incredible amount of stress I would have put on myself and the pregnancy.

As to your last statement, "In some ways being abstract and theorietical helps clear the mind for what is a huge emotional unknown." I find myself able to simultaneously completely agree and completely disagree with your statement. The detachment we feel or are given by the medical community is wholey a deception, because the situation, by definition, is quite proabably the most emotional you will be faced with. Shouldn't that emotional link be equally considered?

No wonder the parents you have encountered have been a wreck. Very, very few parents would be anything less. This is why I so advocate parents receiving such a diagnosis should be put in touch with "real people" as soon as possible!! Paul and I have gone to visit new parents in the hospital, and we have met with pregnant parents to answer any questions they have and show them what things look like after acceptance has been reached.

On that note, Paul jut got an invitation in the mail yesterday to the DSACO's (Down Syndrome Association of Central Oklahoma) annual Haloween Party. This is for young adults 16+ and includes a DJ, food, dancing, and a costume contest. Chaperones are welcome but not required. This means the party is for the young people, their own party, their own peers!! He's already putting together his costume. He is going as Old Deuteronomy from the Broadway muscial Cats. Yes, his choice. Like I'd be able to come up with something like that!!!!

 

[Upgradable]

Just popping back to say that I know I completely contradicted myself several times. Ironically enough, that''s completely true to the nature of this topic!!!!

 

[Upgradable]

I know this picture is blurry, but it shows his creativity and love for the musical Cats. He''s dressed as Growltiger.

I tell you, I never know what''s next!!

 

[vespergirl]

Hi Upgradeable, thanks so much for sharing the story of your son''s life with us. It sounds like he is a true joy to your family and his friends. I am so heartened by reading about your family. I am in my 30s, and we are now talking about having our second child. We did all of the genetic screenings before our first child was born, with the intention of terminating the pregnancy if anything was wrong. Now that I have the experience of my beautiful, wonderful son, though, I don''t think that I could discontinue my next pregnancy under any circumstances - I can''t imagine not loving our next baby as much as the first, regardless of health issues. However, my husband disagrees, and we have been having conversations about this topic, since Sarah Palin''s family has come into the public eye. I just wanted to say that I''m really grateful that you shared your story with us, and it''s really important for people to know the reality of what it means to have a child that is different, as opposed to just the old-fashioned misconceptions.

 

[dragonfly411]

Upgradeable,
I''ve loved reading about your son, thank you for sharing, I''d love to see more pictures whenever you have some I love the one of him with his "groupies"

 

[Maisie]

The photos are fab!! He is very creative!

 

[Upgradable]

All right, twist my arm!!!

Paul loves dressing up in costumes. He''s a huge Three Stooges fan. He has a tin plate of the Three Stooges hanging in his room called Golf Masters. One day I caught him in his dad''s golf bag in the garage. This was what he was up to. I had him hold the picture so you can compare it to his hero, Curly Howard.

 

[Upgradable]

One of his chores is putting the groceries away after I come home from the store. Here he is with his favorite snack.

Oh, and if you look behind him on the refrigerator, you can see a picture of him with a Santa hat and beard on. He was wearing a tie dye shirt at the time so we call it his Jerry Garcia photo!

 

[Upgradable]

Getting an award at school. He was on honor roll (modified curriculum) all semesters of middle school.

 

[Upgradable]

The surprise 16th birthday party his church youth group threw for him last February.

 

[Upgradable]

Paul and his proud Mom!!

 

[Upgradable]

Sorry about that!!

 

[bugwife]

Thanks for sharing Paul with us! With all those great pictures, I wonder if he has his own blog? If so, he might want to list it at
http://giftsds.segullah.org/personal-blogs/

The Gifts book project collected stories of moms of young children with Down syndrome. Sort of a "what it's really like" project. Because, when you get your child's diagnosis, sometimes all the medical people give you is all doom and gloom. But the community of families who have a child with Down syndrome is anything BUT doom and gloom.

The book is 63 personal essays, really lovely and well-written, the editor is a friend of mine. But to extend the sharing of stories beyond the book, I set up a blog listing on the book's website, so people can find recent blog posts--sort of a glimpse into what life is like in families with a child with Down syndrome right now.

 

[Upgradable]

Thanks bugwife! I checked it out and it looks like I''m going to be doing a LOT of reading!!

 

[Maisie]

I love the photos!! I wish my kids would help me put the groceries away. How do you get him to help out. All I get are miserable faces and dragging feet! That last photo of you and him is beautiful.

 

[Upgradable]

Paul is a creature of habit. Once the expectations are set, heaven help trying to break them! Disclaimer: that doesn''t mean he wasn''t a beast to get out of bed this morning!!!

He really enjoys unloading the groceries. Each item he pulls out gets an exclamation, "WOW!!!" It does make my 14 year old daughter roll her eyes. He also empties the dishwasher and puts the clean dishes away, and clears the table after meals. He likes to set the table too, but he occasionally reassigns seats, and there''s hell to pay if we don''t sit where he wants us to! Also, the TV MUST be off when we eat. We made that rule in order to get him to the table. Now, if there''s something we want to watch while eating, TOUGH!!

 

[Maisie]

Its so cool that he likes to help you. I have noticed my little son James likes to be involved in doing chores. He is only 4 and its being assumed he is dyspraxic which they say is stopping him from being able to speak properly. He understands everything though so its lovely to watch him help someone out. He does the "I am a big boy" face. Too cute!

 

[dragonfly411]

So cute that they both are involved in chores and enjoy it! I hope my kids are that way some day!

Thank you for the pictures!!! He always looks so bright and happy!!

 

[ChargerGrrl]

Upgradable, many THANKS for sharing your story. Paul is a precious gift!

 

[diamondseeker2006]

Thank you so much for sharing the story of your son! He is precious to God, and it breaks my heart to think that so many like him do not get the chance to live.

 

[Skippy123]

Date: 10/20/2008 1:38:36 PM
Author: Upgradable
Sorry about that!!

You, your son and family are beautiful!!!! Thanks for the new pictures!

 

[fisherofmengirly]

I had never read the Holland story. That is wonderful way to describe what it would be like to have a special needs child join your life. May not be what you expected, or what you "signed up for," but is a blessing, if you let it be. And such a true way to look at things. We always have the opportunity to complain about what happens in life, or the choice to revel in every great blessing that comes our way.

I''m so glad that Paul is loved and cared for the way he is. I''m glad that his joy and excitement for life has impacted you and taken you to a place you never would have seen without him being there, guiding the way.

Every child is remarkable, and it is just precious to read about your love for your family.

The pictures tell such a story, too.

Thank you for sharing a piece of your life.

 

[Upgradable]

Thank you all for your kindnesses! Paul is definitely a blessing, and we are lucky enough to be the recipients of this blessing. Although I like to think that we work every day to earn this blessing!

And it''s never a burden to share pictures!!!!!

 

[LaraOnline]

Upgradeable, I just wanted to join your fanclub and say how great this thread is.
I was shocked and surprised to read your statistic on how many women choose not to proceed with their pregnancy once the possibility of Downs is introduced.

Now, technology may have come a long way in the past couple of years, but I have heard several unsettling anecdotes in the past few days. This is because I have just jumped through the hoops of early Downs screening myself. I guess if I was diagnosed with Downs, I would have kept the baby. I have a brother with cerebral palsy, and guess what, he's awesome.

Anyway, one of my girlfriends was diagnosed with having a very, very high chance of Downs, through blood tests. She wonders if this is because she was moving house at the time, and under a lot of stress. She didn't go through with amniocentesis, though, as she didn't want to risk her baby, but she fretted through the pregnancy dreadfully. Her child is perfectly normal, obviously!

She herself told me of a friend of hers that had also had a very high result, and had gone through with the amniocentisis. The result was normal for the friend as well. So both had normal children.

My mother in law told me on the phone a couple of days ago about her neighbour's daughter, who was diagnosed with having a Downs Syndrome child, and aborted it. When the foetus was born in the abortion process, it was found to be perfectly normal.

I feel bad that the screening process basically directly encourages women to abort their children, in second stage abortions.

 

[fisherofmengirly]

Date: 10/26/2008 7:57:21 PM
Author: LaraOnline
Upgradeable, I just wanted to join your fanclub and say how great this thread is.
I was shocked and surprised to read your statistic on how many women choose not to proceed with their pregnancy once the possibility of Downs is introduced.

Now, technology may have come a long way in the past couple of years, but I have heard several unsettling anecdotes in the past few days. This is because I have just jumped through the hoops of early Downs screening myself. I guess if I was diagnosed with Downs, I would have kept the baby. I have a brother with cerebral palsy, and guess what, he''s awesome.

Anyway, one of my girlfriends was diagnosed with having a very, very high chance of Downs, through blood tests. She wonders if this is because she was moving house at the time, and under a lot of stress. She didn''t go through with amniocentesis, though, as she didn''t want to risk her baby, but she fretted through the pregnancy dreadfully. Her child is perfectly normal, obviously!

She herself told me of a friend of hers that had also had a very high result, and had gone through with the amniocentisis. The result was normal for the friend as well. So both had normal children.

My mother in law told me on the phone a couple of days ago about her neighbour''s daughter, who was diagnosed with having a Downs Syndrome child, and aborted it. When the foetus was born in the abortion process, it was found to be perfectly normal.

I feel bad that the screening process basically directly encourages women to abort their children, in second stage abortions.

It''s for this reason that many, many women opt not to have the testing done. The tests are not conclusive, and they are given (or should be given) as a means of giving a family the time to prepare for the challenges (and of course, the blessings which come with every child, because don''t they all have high demands?) of child-rearing.

A majority of the screenings that come back with a positive diagnosis are wrong, and lives are lost because of it. Heart breaking.


***
Upgradable, is your son dressing up for Halloween? What with the cute golf outfit and the CATS costume, I would think he''d have quite the imagination to be something creative this time of year!!

 

[Upgradable]

Lara and Fisher, since you are much closer to the current trends in maternal/fetal medicine than I am, are doctors still scheduling the screening tests as a routine part of pregnancy? One of my big objections to the use of these tests (and I ama medical technologist and a proponent of choice) is the clinical nature with which they''re presented and the assumption that they''re a required part of the process, without the additional subjective followup. Are they being presented as an option rather than a requirement?


And Fisher..... Paul''s Halloween party was last night. He went as Old Deuteronomy from Cats. He chose every part of the outfit. The only thing we added was the makeup. That is after he printed out a copy of the makeup diagram used in the Broadway production. I haven''t yet shared about his computer literacy. The stuff this kid can Google just leaves me stymied!! I''ll upload pictures tomorrow.

 

[Blenheim]

Upgradeable, thanks for posting your story. I love the photos of Paul - he looks so creative and happy!

I''m seeing a midwife and getting that model of care for my pregnancy rather than a medical one, and she never brought up the screenings. I know that she would have discussed it with me and helped me to get screened if it''s something that I wanted, but it wasn''t a routine part of her prenatal care. I''m not sure how OBs handle it, though.

 

[fisherofmengirly]

Upgradeable,

I've not yet had the opportunity to experience a pregnancy and the testing options that are available first hand, but being that preservation of life is a something very I'm very passionate about, I have asked several of my friends about it. From what they've told me, in the typical ob/gyn setting, the Nuchal Translucency scan (which I believe measures the thickness of the baby's neck at about week 12 of pregnancy to try to determine if there are any irregularities to lead to DS) is fairly frequently stated as a needed scan, and sometimes (with two of my friends) an explanation of the purpose of this ultrasound wasn't explained. Amnio, well I guess most people know that it's invasive and can potentially harm a child. I would assume mother's know going into that the dangers it holds. I've not had a friend who's not had it explained to them, anyway. I think that for the most part, scans of this nature are presented as "standard procedure," however.

 

[LaraOnline]

Date: 10/26/2008 9:33:57 PM
Author: Upgradable
Lara and Fisher, since you are much closer to the current trends in maternal/fetal medicine than I am, are doctors still scheduling the screening tests as a routine part of pregnancy? One of my big objections to the use of these tests (and I ama medical technologist and a proponent of choice) is the clinical nature with which they're presented and the assumption that they're a required part of the process, without the additional subjective followup. Are they being presented as an option rather than a requirement?

Yes, the system goes 12 week screen combined with blood test. The screens use probability, as no one aspect of the ultrasound test is definitive. They look for several things, including the neck thickness and nasal bone development. For example: children that show no signs of certain nasal bones - within Anglo Saxons that is - may have a form of Downs, as 65% (from memory!) of Downs Syndrome children do not have that bone development at the 12-week screen.
That reading is then measured against blood test results, which may show that certain hormones results also increase the probability of the child having Downs Syndrome.

Women with a certain risk calculation are then offered the option of an amniocentesis, which comes with its own risks to the pregnancy.

Yes, up to a certain maternal age (say, 35) I think these initial screening tests are presented as an option, but really it's almost 'opt out', I'd say. I've done one for each of my pregnancies, the first one at age 32. I guess I was in that 'twilight zone' of maternal age, perhaps doctors do not present younger mums with the 12-week screen as routine?

I'm not necessarily criticising the doctors here, it's kinda cool to be able to see your baby early! But to take that early screening is in some ways grasping a nettle, as if there are any queries, you are kind of already on the boat...

Until age 35, in Australia you pay full cost of that first ultrasound screen. After that, there is some subsidy from the government to help pay a little towards it.
So I guess women who really budget would reject the first screen on dollar cost alone.

 

[Upgradable]

Here''s a picture of Paul before he left for his Halloween party Saturday night. He wanted to go as Old Deuteronomy from the musical Cats. I put in a picture of the Broadway actor who is his idol.