Possible Down's Syndrome

[Ethelpea]

My baby, via ultrasound, showed a marker for down syndrome.  Combined with my age of 41, I think there is a decent likelihood she will have Down syndrome.  I am seeing a perinatologist this week for another ultrasound and plan on refusing the amnio they will more than likely 'strongly recommend'.  So, unless  a Down syndrome diagnosis can be definitely ruled out with just an u/s (which I know is impossible), I would like to get my ducks in order. :)

Can anyone tell me about good nutritional therapies for Down syndrome babies?  I know they are deficient in many vitamins and minerals and orthomolecular medicine can help them thrive.

Can anyone point me in the direction of good, alternative health sites for Down syndrome children?  I'm only finding the lame 'party line' sites on the web?

Will I be able to birth at a regular low risk hospital? or will this depend on my current doctor and hospital rules?  Is NICU time a given in no other problems present themselves?

Thanks so much,

Emily

(22 weeks pregnant)

Edited by Ethelpea - 12/4/12 at 4:32am

[serenbat]

this place is near me but they may know about a place near you - http://www.epdsc.net  I had a friend that did some work with them for his nurse practitioner training

I was older as well and did a CVC instead of amnio and the blood test- really a good ultra sound can rule it out if they know what they are doing (I found this out after my CVC) - did you do the blood tests at 16 weeks?

regarding delivery, you may want to post in your tribe section for info in your area since if really varies per state

best of luck

[JessSpiz]

Hello,

Congratulations on your pregnancy! I am mom to a 12 year-old daughter with Down syndrome and I am 40 :) It looks like you might live in Ohio which has lots of support for people with Down syndrome and their families. I don't know that children with Down syndrome are deficient in vitamins/minerals but of course nutrition plays a vital role in their development. So good for you for already advocating for your child!

Here's a few in Ohio:

http://www.dsaco.net/

http://www.theupsideofdowns.org/

These are my favorite national  sites:

www.ndss.org

www.gigisplayhouse.org

http://ndsccenter.org/

You can find info about nutritional therapy at:

http://www.nutrivene.com/

Just today I read an article about a new mom who happens to be a dietician and has a baby with DS:

http://www.ndss.org/Ways-to-Give/Fundraiser-Focus/The-Sharon-Family/

There is a blood test now available that has a very high accuracy rate  in determining if a baby has Down syndrome. Not sure it is available in every state but you can read about it here:

http://www.sequenomcmm.com/home/health-care-professionals/trisomy-21/about-the-test/?gclid=CILUxoGf_7MCFelFMgodNVkAtA

Many babies with Down syndrome never see the NICU although my daughter did because of a heart condition. I would not say a NICU stay is a given. I think the main issue would be a heart defect that would need immediate surgery (most don't) but you can probably find that out ahead of time. Other than that, many of my freinds who have kids with Down syndrome had normal pregnancies/births and were discharged within 2 days. I personally always felt more comfortable delivering my kids in a hospital with a level 3 neonatal. Many things can happen during childbirth and it is terrible to have your baby whisked to another hospital while you are stuck at the hospital where you gave birth. I am sure your doctor will advise you and give you options!

Your life is about to change in ways you can't imagine and I am so glad mine did. We feel extremely blessed. Congrats again!

Jessica

[lioralourie]

hi! I wrote a lengthy post before but it disappeared! We have a 3y10m old daughter with DS who we started nutritional therapy TNI at age 4 months. Would have started earlier if I had known about her diagnosis beforehand!

The best resources out there for nutritional therapies are

groups.yahoo.com/group/DSTNI
groups.yahoo.com/group/DownsyndromeInfoExchange

and Einstein-syndrome.com/join

Do read the Einstein-Syndrome.com articles in the sidebar "Wipers on the Bus go Trap Trap Trap" and "Hole in the Bucket" for a basic biochemical intro to the WHY and correctible cycle problems with our kids!

The first four supplements to prepare for after the birth are DHA, probiotics, Vitamin D drops and Nutrivene-D. OThers can come later.

I had a home birth, but did not have a prenatal DX. If I knew what I knew now about heart problems, oxygenation issues (from the flap in the heart sometimes not fully closing after the birth) and screenings for life threatening issues like Hirschprung's I would've birthed in a hospital. So, long story short, you want a good labor and experience for yourselfl (hire a doula?) and I am a big natural birth advocate, BUT you also need a hospital with a good NICU. Not all babies with DS have problems (ours had no major problems, but did have an oxygenation issue and "mystery infection" requiring 4 days of inpatient, starting at 8 hours old) but I hate to say, you are no longer low risk. I mean, YOU are low risk, but your baby is actually medium-high risk.

Please send me your email address, to lioracc at yahoo dot com and I can send you 3 breastfeeding resources for babies with DS too! All the best to you, see you on those awesome lists I hope! I learned so so much from them. BTW our daughter is on 14 supplements currently, and singing, learning new songs, great memory, and SPEAKS. She is language delayed but she speaks 300 words. More if you count what she will copy.

OH do join groups.yahoo.com/group/COMMUNICATING It is Dr. James Macdonald's list, he is a researcher and clinician working with late talking children for like 40 years. His list, and his book, and especially his DVD changed our lives! Just join, and read, and look out for posts from Dr. Jim. Get the book and Shortcuts DVD if you possibly can afford it!

[Ethelpea]

Thank you. Thank you. Thank you.  All you ladies.  I'm kind of choked up at the fantastic responses and information you have all provided me.  Looks like EXACTLY what I need to get started (and then some).  I will definitely take my time to go through them.

Emily

[lioralourie]

Emily, you are on the right track hon!! Things are gonna be fine, no, GREAT. I'm sure you know that in addition to the regular birth preparations you might have to research like hell and advocate for the BEST CARE for your baby if there are any hitches at all perinatally.  

Just research every little thing the Dr. recommends BEFORE you do it....I think delayed cord clamping and delaying all the vaccines as long as possible (or never) is very important for our kids, who do not rid themselves of toxins as well (hence the 1 in 6 - that's 15%-- autism rate in the DS community).  

Do research every recommendation - and I mean every recommendation- no matter how rational it sounds (except where lifethreatening).  Is it really necessary to supplement with formula on such and such a day?  They make this reco based on the calculation of % birth weight lost but I just attended a seminar where they showed research that IV fluids given to mother during labor artificially inflates the birth weight!  That would mean that the first X percent was artificially high to begin with.

Is it really necessary to have that bilirubin light if the level is 14.something on day four?  (Day four is the peak of bilirubin levels in physiological jaundice - and the AAP says treat with phototherapy from 15-18 and that no MR or problems have ever been documented with Bilirubin under 30 something!  However at 18 or 20+ you would want to treat somewhat aggressively, but not 14.something!)  Any disruptions to mama-baby will make BF more challenging.  There are already a few challenges, but in most cases it CAN be done!  Some babies with a really weak suckle need time to build up strength - if totally unable to suck effectively get a Medela Special Needs (Haberman Feeder type) bottle, it might be good to get one in advance *just in case* because hospitals are woefully unprepared to help BF.  They probably will have a good pump and you can transfer your colostrum/milk into the Sp Needs bottle.  If baby is able to maintain even a little latch, you can try all natural (with a little "Dancer hand" support my little one could BF fine- she was my 3rd baby though) or a SNS Supplementing system by Medela. 

[womenswisdom]

There is a fairly new blood test that can check with very high accuracy for Down's Syndrome as well as Trisomy 18 and 13. It's called Harmony or MaterniT21. It's completely non-invasive and no risk for the baby, a blood test only. It's still considered a screening test because they aren't looking at the genes, only whether the chromosomes occur more frequently than they should in comparison to a benchmark chromosome (number 9). For Trisomy 21 (Down's), it's over 99% accurate. I just had genetic counseling and labwork for this today due to some risk factors I have and thought this might be helpful to you.

[jmarroq]

Hello and congratulations! There may be more tests (blood) as others have mentioned, in case you want to be more certain before you do all the extra prep work.

A cousin of mine was told her baby had the markers for downs and the baby was born without downs. I had a similar situation too.

I scheduled my high-res ultra sound or whatever it's called (the "better" ultrasound) at a certain medical center, but wasn't sure I would be able to get there, so had another scheduled at a different medical center the following week. At the time, only women of "advanced maternal age" were encouraged to get these more advanced tests. It went along with a blood test. The markers, if any, were compared to the blood screening, and that is how they determined your risk.

My baby wasn't cooperating during the screening. The cord was around it's neck, so they couldn't get a good look at the neck folds. They did see some other markers though...something about a missing nasal bone. I got the vibe that the doctor had no clue what she was doing. The U/S tech, and myself both saw a very prominent nasal bone and the doctor quickly disagreed.

I wound up keeping that second appointment since the baby wasn't cooperating at the first one. Sure enough, the new doctor said he saw a nasal bone...and a good sized one! He didn't find any other markers either. I did get a call from the first doctor's office a few days later saying that with the markers, and the blood work, my risk went from 1 in 311 chance to a 1 in 50 chance for downs syndrome baby.

My daughter was born prematurely a few months later with no chromosomal differences.

I don't blame you if you don't want an amnio...I heard they don't really like to do those any more, with all the other options we have now. I think they should be able to give you a more solid answer with just a blood test and/or another u/s to confirm the markers are still present.

[Ethelpea]

thanks again.  Just an update:

I had my level 2 ultrasound today and another soft marker for Down syndrome was found.  So, the two soft markers (which they see both of EVERY SINGLE DAY and by themselves mean nothing) combined with my age (41) put baby at about a 10% chance of having Down syndrome.  I got some new fangled maternal (non invasive) blood test today which, supposedly, has a 0% false positive and 100% accuracy (for both negative and positive) rate.  It's called "Verifi"  Should have the results in about a week. 

 

The fantastic news is that there is nothing anatomically wrong with the baby and I can still deliver with my low risk ob-gyn at my po-dunk hospital.

[emma1325]

Hi...I just wanted to drop in and say that my 30 year old sister has DS. Growing up with her (we're 2 years apart) was a great experience. In more ways than not, she was and is just like any other sister (as far as I could tell; she's my only sibling). She doesn't have any special health problems. But like many other DS individuals, she loves to eat, sing, dance, and recall happy memories!

Congrats on the pregnancy, whatever the outcome may be regarding downs.

[emma1325]

Whoops...duplicate

[Ethelpea]

That is sweet Emma1325....This baby and her older sister will be the same age gap as you and your sister.

[Philothea]

Ethelpea- I just wanted to say I have 2 brothers with down syndrome and they are the greatest gifts in my life! I can't tell you how much joy and love they bring into the world. They have taught me so much and continue to do so regularly. Congrats on your pregnancy and blessings on your journey! That little one already sounds very lucky to have you as his/her mama!

[Tigerle]

Congratulations on your pregnancy! And how wonderful that you already know that anatomically, the baby is fine! Of course I am keeping my fingers crossed for you that genetically, everything will be fine, too, but if it's not it will be okay.

Our DS2 was diagnosed not with DS, but with spina bifida in week 18. It is a hard journey if you have to prepare yourself for special needs baby, but oh so worth it.

I just want to let you know that I started out super positive, researching up and down the internet in order to find out how to give my baby the best possible life. And suddenly, with allthe appointments and discussions, the fear hit. Amajor depressive episode with panic attacks I needed medication to climb back out of. I am not saying this to scare you or because I am thinkin that it must happen to you, just so you know that if it does, GET HELP! and so you know that it  WILL BE OKAY AGAIN.

good luck.