Genetic test results…

This morning dh and I traveled to Nahariya to meet with a genetic specialist to get results of testing that was done when the baby was in the hospital.  After 2.5 weeks, we finally have some definite answers!

When our baby was about three hours old, a doctor told dh that he had some features that are common to babies with Trisomy 21 ( also known as Down syndrome), but, she added, sometimes within a few hours these features change.  When dh told me that, I paused for about half a minute to think about that, and then said, “That doesn’t make any sense.  How can features change, and what features is she talking about?”

Dh didn’t know, and when I saw the doctor for the first time an hour or so later, after she finished telling us about all the medical issues the baby was facing I asked her what features she was commenting on.  After she told me, I said, “You’re pretty sure it’s Down syndrome, aren’t you?”  “Yes”,  she nodded, as she looked back at me worriedly.  Okay, I thought to myself, so that’s it.

I took the baby for a nursing session and told dh what she said.  We both felt that Hashem (G-d) was giving us a vote of confidence, as if to say, “You’ve dealt with all the challenges I’ve sent you so well that now I know you can be trusted to raise this special gift.”   It’s hard for me to describe this without sounding woo-woo, but I had a sense of Hashem shining a loving light all over dh and me and our baby.

The next morning, a nurse came in to ask me how I was doing and talk to me; she was sent because they want to be emotionally supportive of parents who are getting news like this.  It turns out she was an English speaker and I enjoyed chatting with her.  She told me what an amazing attitude I have, and that she’s not worried about me emotionally – she even told me that I’m going to add a lot to the support community for DS here in Israel!  (I thought that was highly optimistic of her being that after the first night in the hospital I was seriously sleep deprived.)

After her a social worker came in to talk to me, and within just a minute or two of meeting me said, “I don’t know why, but I have a sense that you’ve already accepted this and feel peace about the situation.”  And I told her she was right, and then shared with her my thoughts that our newest baby was purely a blessing and nothing else.  Our baby is our baby and he is precious to us no matter what; hearing about the likelihood of Down syndrome didn’t change our feelings toward him at all (except to make us feel even more loving and protective of him).

Later on I would speak with doctors, mostly neonatologoists – though at one meeting I met with the head neonatologist, the pediatric hematologist, and the geneticist all at once.  (Having these medical conversations in Hebrew was definitely a linguistic stretch!)  Each of them told me all the specifics about the baby’s situation that they were each responsible for; the geneticist was last.  And she said to me, “I don’t know how – is it faith? – but you seem very accepting about this.”  But we still didn’t have a firm diagnosis, and until the testing was done, we didn’t discuss the possibility of T21 with any but a very few close friends.

Unfortunately, the first testing results failed and had to be done from the beginning, which meant that we didn’t get a diagnosis until today.  Waiting was really the hardest thing about this situation, since our inclination was to be open with whoever we spoke to about the baby and we couldn’t do that.

Dh and I left the house at 5:40 am to make our bus connections to get to our 8 am appointment at the genetic institute – they won’t give results over the phone – and it was oddly anticlimactic once we got there.  Basically the geneticist said, “Just as you already thought, it’s Down syndrome.”  Then she showed us a picture of the typical chromosome arrangement, then a chart that showed the T21 chromosome arrangement, then asked if we had any questions.  (I thought to myself, “This is what I woke up at 4 am for???)  When scheduling appointments they leave time for counseling the parents but we really didn’t need any help in coming to terms with this, so that’s why our appointment was so brief!

We had to see the pediatric hematologist while there, as well as the social worker, and dh commented when we finally left the hospital that it seemed as if all the staff we encountered was expecting to catch us emotionally as we fell apart -they all had furrowed brows and concerned looks as they asked us what we had heard from genetics that morning, and then asked us how we were doing when we told them the results showed T21.  (I told him that’s how it was the entire time I was at the hospital -he wasn’t there after the first night.)

I’m really glad to have the official diagnosis and no longer have ambiguity about what we’re dealing with.  Not only that, today we got the go ahead from the hematologist for the bris, which will take place on Sunday afternoon.  We feel so blessed with all the good that is overflowing in our lives!

Avivah

17 thoughts on “Genetic test results…

  1. What a blessing to be able to bring your baby home to a house full of love and acceptance. I am a firm believer that G-d blessed those who are equipped with special blessings like my sweet new nephew. You are such a wonderful mommy and I am proud of the kind of parent you and Osher are. I am also 100% sure that G-d does NOT make mistakes.

  2. You are amazing. Only very special parents are gifted with special children. Hashem has shown his faith in you and your family. May Hashem continue to bless you and your family.

  3. I never saw the whole Holland post, but I could read the first sentence or so on my phone. I actually thought for a quick second that maybe you had traveled to Holland for medical a procedure. Thankfully, after a quick google search I found the article you referenced. The first things I thought to myself was that I already know that you are an extremely special person, who inspires so many and who I see as a true pioneer in the frum world, of course your baby has DS; it just made so much sense to me! Hashem chose the perfect person who will now go on to advise, guide and inspire scores of parents with special needs children, just like you have to those who homeschool, practice mindful parenting, and strive for optimal health. Can’t wait to hear to the name of this perfect little neshama! I wonder if you had any idea during your pregnancy about your son having DS? I remember when you wrote about gender disappointment that you said you had been doing a lot of reading about DS for some reason. Did you have an intuition?

  4. I am positive that your son will give joy and bracha to your family and your your family will give joy and bracha to him. A perfect match! I look forward to hearing about the bris.

  5. Mazel Tov. May Hashem grant others the ability to see the brachos Hashem bestows on you and this heilige neshama I once learned that Hashem sends special needs children to this earth to teach the rest of us kindness and love. They are usually very holy Neshamos.

  6. Avivah, you are such an inspiration to the rest of us! Just the way you live, the way you carry yourself and the emunah you have! May you be blessed to always have nachas from your son (and all of you kids). May you merit to raise him to Torah, Chuppa and Ma’asim Tovim. May you merit to bring him to his full potential.

  7. Your little kiddo seems like he is in perfect hands. I really admire you and your attitude in life, and I love how you really see the best in everything. Hatzlacha!

  8. Mazal tov on the birth. I wish you lots of kochos. I’m also sending you a huge virtual hug. Take care of yourself. MM
    (we don’t know each other, but I’ve been following your blog for a while.)

  9. Mazal tov again on your new baby, ka’h. May you raise him in good health and with abundant blessings. Looking forward to hearing his name. :)

  10. Your amazing attitude is always an inspiration! May you have a lot of nachas and brocha from your sweet little boy and all his siblings:) Mazal Tov!

  11. Mazal Tov on your new son! And it also seems like amazing hashgacha that you’re in Israel now! My neighbour has a baby with downs and she said that Israel is leading the world in therapies, mostly free!

  12. I’d like to quote Rav Pam, z”l:

    “Do you know how much work went into finding the perfect home for this special Neshama? Hashem worked so hard to find the right family who would raise this Neshama better than anyone else in the world. Hashem picked you!”

    Mazal tov! May your tinok be a source of inspiration for all Yidden to be better Jews.

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