Experience with raising a child with Down syndrome
I’m reaching out to the BPN community on behalf of my brother and his wife. She’s 13 weeks pregnant and they just found out their baby has a 95% chance of having Down syndrome. This is their second child who they just found out is a girl and their first child a boy will be one years old in June. They have been given the choice to terminate the baby or continue on with the pregnancy. They are not concerned with the difficulty of raising 2 under 2 or with a special needs child, but more so of the quality of life for their daughter who may have co-morbidities, need multiple surgeries, etc. They do not want her to suffer and are facing a difficult decision. If anyone is willing to share their experience in raising a child with down syndrome and the challenges their child has faced if any they would greatly appreciate it. Thank you.
Parent Replies
I have a 2 year old daughter with Down Syndrome. We have been very lucky that she is generally healthy. She is a very happy little girl and has a wonderful quality of life. Children with Down Syndrome are more likely to have heart defects and other conditions so there are no guarantees, but many live very healthy and fulfilling lives. The Down Syndrome Connection of the Bay Area is a great local resource. I also encourage your family members to learn more from others in the community and not rely solely on the advice of doctors. There are some great Instagram accounts which show the positive and sometimes challenging aspects of raising kids with Down Syndrome. Feel free to message me if you'd like more specific information.
Having a child with complex medical needs changes your life completely. We have a son with a rare genetic syndrome and managing his care has become the center of my life. Seeing him suffer and living in constant fear of decline is truly difficult Of course, I love him more than anything in the world and have become a better person because of him, but I am not sure what I would have done if I had known he was going to be affected the way he is. It is a really tough decision, the parents need to consider their ability to devote themselves to taking care of a child with complex medical needs, especially since it will not only affect them, but their older child. What a tough call. Love and prayers to your family. Whatever choice they make will be the right one for them.
My lovely cousin who turned 40 last year has Down syndrome and attended regular school through 3rd grade. She later attended a special needs catholic school and became the first former student on the Board of Directors. She has worked at the school in different capacities for many years. She loves racy lingerie (to the chagrin of her father), dancing, and relatives. She is super helpful at home and what many people consider routine boring chores don’t bother her. I love her so much as do her younger brother and sister and our extended family. Good luck to your family!
I don't have advice on Down syndrome. However, the 95% chance jumped out at me. Assuming this is a wanted pregnancy, I would encourage amniocentesis before termination. The prenatal blood tests are quite accurate at diagnosing Down syndrome but still imperfect (see this article: https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testi…). I think you have to wait until at least 16 weeks to do an amnio, so it would be another month of limbo and stressful uncertainty... But I had an amnio for my (normal) pregnancy and the procedure itself was quick and easy. Good luck.
This is a brutally difficult decision. My moms best friend’s youngest child was born with DS. He didn’t need surgeries, but he had the mental age of a 3-5 year old all his life. He died recently at the age of 64. He lived with them until his 30s, requiring 24/7 care and supervision. They never traveled, could barely go to dinner. Then they started to get too old and he spent part of the week in a special home, then eventually lived there for decades. He hated all change and every step was agonizing and extremely expensive. They did everything in their power to set up a situation such that their older kids did not have to care for him - but they couldn’t. The responsibility eventually became the older kids bc the parents needed care themselves. So each of their family lives and ability to save were pretty compromised too. This was such a brutal situation for the parents to know that their older children were saddled with this, that some major crises occurred that I’m not even going to share. He was a sweet kid, but he grew up and lived for 64 years still being sweet but 100% dependent and was honestly loved but unwanted by everyone - all lovely people - at the end. Its one of the most tragic situations I know of.
Do they live in the Bay area? If so, the Down Syndrome Connection is a great resource to point them to: https://www.dscba.org/
So sorry to hear this! I'll second (or third, or fourth) the recommendation for Down Syndrome Connection of the Bay Area. Their Director of New and Young Family Support is Cathleen Small, who was an amazing resource when my husband and I were told that our child had "more than a 99%" of having DS. Cathleen answered all of our questions honestly and empathetically and never made us feel pressured about what decision we might make. So my first recommendation is that your relatives speak with her, as it is statistically likely that the NIPT result is correct and Cathleen is a great person to talk to about DS outcomes and what it is like to have a child with DS.
As other commenters have said, NIPT is pretty good at detecting DS but it isn't perfect - if they want to be certain about the diagnosis they would need to wait and do an amnio. I don't want to give false hope, but I will say that my husband and I ended up in one of those rare situations where the NIPT did not give us the whole story. As agonizing as the wait was, I was really glad that we did additional prenatal testing, and we ended up with a very happy story in the end. But again, I know that we're in the statistical minority - I'm not trying to say that your family members should assume that the NIPT is wrong. I'm open to sharing more with you or with them if you would like more information, but I strongly recommend that they start by speaking with Cathleen at DSCBA.
They should also look into CVS (Chorionic villus sampling) testing which can be done earlier than an amnio and is just as accurate. I did this with both my pregnancies as I was of "advanced maternal age" at 37 and 39.