Q and A

I wanted to answer some of the questions that many people have asked since Madi's diagnosis of Down syndrome.  So, here goes......

When did you find out she had something wrong?

I knew the moment that the doctor put Madi on my chest after birth.  I could just tell by her eyes that she had Down syndrome.

Did you have any idea before her birth that she had Down syndrome?

I had absolutely no idea she had Down syndrome!  When I did my 12 week ultrasound everything looked great.  On my bloodwork, my hCG was elevated so it did raise my risk of having a child with Ds.  I repeated the ultrasound at 16 weeks with a perinatologist and was fully prepared to have an amniociestis if things looked wrong but everything was perfect.  He was fully confident that I was going to have a healthy child so I opted out of the amnio.  The amnio is the only way to 100% know whether or not for sure.  He then decreased my chances of having a problem.  So,  to be honest with you, I never once thought about it since that day.  I had several ultrasounds throughout the pregnancy and everything that would be an indicator of Ds was not there.  So, needless to say, I was completely shocked when she came out with Ds.

It's kind of interesting......so far of all the people that I have met with a child with Down syndrome, no one knew during the pregnancy.  And everyone had the screening done with numerous ultrasounds and still no one knew.  So, those tests are really not that accurate.

Do you know to what degree she will be affected?

We have no idea.  Only time will tell.  We have had her evaluated by several specialists and everyone has told us that her lack of muscle tone is mild.  So, hopefully that means she will develop her gross motor skills sooner than the average child with Down syndrome. Cognitively, there is no way to tell how affected she will be yet.  We will find out as time goes on.  The great thing is that we are starting with early intervention already, so hopefully that will give her a great start to develop to her best potential.  I have high expectations of her, just as I do of Taylor.

Did the chemo I went through cause this to happen?

No, the chemo did not cause this.  I have talked to specialists about this, even during my pregnancy, and there is no way the chemo caused this.  If the chemo caused any damage, it would have prevented me from even getting pregnant or keeping the pregnancy.  It would NOT have affected the eggs to cause me to have a child with Down syndrome.  95% of people with Down syndrome are a random act of God, they are not caused by something the person did.  The other 5% is genetic.  Through Madi's genetic results, we know that it is not genetic, it is the random act of God.

Why is Madison on oxygen and when will she get off?

Madi is on oxygen because she has pulmonary hypertension, which is basically high blood pressure in the lungs.  At birth, she had a PDA (which is a hole in her heart, a lot of babies have it).  This is what was causing the hypertension.  We had an EKG and echocardiogram done on her at the beginning of February and they determined that the PDA had closed but she still has pulmonary hypertension.  It is common for babies with Down syndrome to have this, especially in the Denver area due to the altitude.  It is also common for it to take 3-6 months to resolve itself.  So, we will have another EKG and echo in May to determine whether or not it has corrected itself.  If it has, then we will begin the process to take her off the oxygen.  But, as of now, it is helping her heart to not have to work so hard.  We will cross that bridge when the time comes if she still has the pulmonary hypertension in May.