Life Upside Down

The last days have been the best of both mine and Bookie’s life. But also some of the hardest we have ever experienced. Friday and Saturday was filled with joy and the thrill of being new parents, and on Sunday, we got some news that made our heads spin:

On Sunday morning it was time for the Child doctor to do the second examination of our Prince Vince. As it was early in the morning, Bookie was not yet there. To sum things up, the doctor suspected our child of having Down’s Syndrome. There were some signs on his body that were typical, but there were also some typical signs he did not have. On his feet the big toe is located rather far from the rest of the toes, and in his hands the lines go across his palms. These are two typical signs of Down’s syndrome. He also has his eyes a little tinted upwards, which may or may not be a sign. That can come just from being pressed out just 2 days earlier. He does not have the most typical sign, which is white dots in the iris of the eye. There are also some signs on the chest/nipples, which he does not have.

As the news were delivered to me, I was completely chocked. We had done a genetic disease test in the pregnancy, and the results were not splendid, but OK. On average 1/870 pregnancies in our age group, with no family members with Down Syndrome, result in an outcome of the Syndrome. Our stats were 1/1200. We could have done an amniotic fluid test (the one where they stick you with a big needle in the stomach and collect some amniotic fluid and test it), but the risks of miscarriage is 2/100 for that. For all of you who have never been pregnant, when you or your partner does, you will find it is a world full of statistics, and there are hundreds of tests available. But the more tests you have, the more stress you put on yourself and your baby, and the higher the risk of a miscarriage. We had also done an ultrasound in week 12 where they measure the neck. When the neck is thicker than 2.5, you are in the risk zone, our number was 1.7  – should be on the safe side there.

It was decided by the Doctor’s that on Monday we would do an outpatient trip to the University hospital in Graz, and go to the children’s neurological department to do some bloodtests. We would return to Voitsberg LKH the same day. The clinic visit was one of the worst ones in my life, but also very enlightening. In the waiting room we met some amazingly strong people, who showed us that it does not have to be so bad. One girl I spoke with had her son in week 28, he weighed 550g, has malfunction of many organs, nearly deaf as well as other health issues. But she was so strong and showed such love for him, and told us how you have to look for the small things and find the positives in the negatives. I was amazed by her story, and I hope to be able to get in touch with her again.

The tests were done and we sat down and talked to the head Dr of the clinic. He told us that it is very likely that Vincent has Down’s Syndrome. In a way I am happy now that he prepared me for the news early, but it was the hardest day of my life… As many children with Down’s Syndrome are born with permanent heart problems that can result in many complicated medical situations we were sent on to do an ultrasound of Vincent’s heart. They would also do an EKG, blood pressure and test his heart beat. This was also hard to see our little baby hooked up to a big machine and lots of electronics on his little body. After some whispering between the Dr and the nurses, the Dr told us that his heart is in excellent shape. Nothing un-normal for a newborn baby, and there were no signs of any problems related to heart failure and Down’s Syndrome. No news has ever sounded so great to me. Both me and Bookie broke down in tears and just hugged each other. After this we could finally go back to Voitsberg and the hospital there. The blood results would be in on Wednesday (the 17th).

The rest of Monday and Tuesday was spent in a daze of confusion, mixed with hope and a lot of questions. We immediately got a lot of support from the hospital and of course our immediate families and the few we had chosen to share the news with. On Wednesday morning we went home from the hospital. At 3 p.m we got the results and it is now confirmed that our beautiful baby has Down’s Syndrome or what is also known as Trisomie 21. What this means from a genetic perspective is that he ahs 3 of chromosome 21, instead of 2. We do not yet know what severity he has, as this takes an additional two weeks to find out. There are many different levels of Down’s Syndrome, and we will have to wait and see.

It is hard to see that the baby we have been longing for so long has something that will make him stand out in a society that is not always so nice and easy to deal with. We accept him and love him just as he is. There is no other baby in the whole world that we would rather have and I am glad he is part of our family. He is already an amazing little man who spreads so much love and happiness and we can not wait to see him grow up and become his own little person.