Sunday, August 24, 2008

Spoke with the geneticist

It's funny how a little bit of hope, unfulfilled, can leave you feeling like the rug's been pulled out from under you all over again.

Someone suggested in a comment to a post here that Finn might have Mosaic Down syndrome. There are three types of Down syndrome: typical (which I believe is what's known as Trisomy 21), where every cell of the body contains an extra chromosome; Translocation Down syndrome (I'm not sure exactly what this is); and Mosaic Down syndrome, where the extra chromosome occurs in only some of the body's cells. This morning I started researching Mosaic DS a bit, and what I got indicated that, although there is no hard and fast rule, typically those with Mosaic DS have milder DS features, fewer health issues associated with DS, and higher IQs than those with typical DS. How could I not begin to hope? Even so, I knew that putting too much hope into something like that was dangerous.

I took a chance and called the number for the genetics doctor who made Finn's diagnosis, thinking I'd have to leave a message, and I was able to get through to her (on a Sunday afternoon). She remembered Finn well - remembered that he was born at home, remembered what room he was in in the NICU. She accessed his records and told me that no, he does not have Mosaic Down syndrome, but rather, typical DS, or Trisomy 21.

I don't know why this is hitting me so hard. After all, nothing about Finn has changed from yesterday, or even this morning, to that phone conversation with the geneticist. But I had some hope this morning - hope that he could possibly be a little closer to "normal" than what we've thought for all these weeks.

I'm trying really hard not to cry right now. I think my kids have seen me cry way too much these last few weeks.

I've come across so many parents of DS children since Finn was born - mostly through reading, through email, and through internet searches - who say that they wouldn't change a thing about their DS child. I have come to understand that this whole thing is a process of acceptance - acceptance of a child we didn't expect, acceptance of a diagnosis and everything that goes along with that. And I feel like I've come quite a distance down the road of acceptance. But I truly can't see ever getting to the point of such complete and total acceptance that I wouldn't change a thing about Finn. I would change something. I would change the fact that he has DS. I love this boy with all of my heart - so much that it's a physical ache sometimes - but I would change that if I could. I would take it away and have Finn without Down syndrome.

12 comments:

Carla said...

As usual, beautifully written, Lisa; you express yourself so very, very well, even when things hurt the most. I'm sorry that you received the news you received from the geneticist. I think it is the "burden" of being a mother of any child that makes us want to take away anything that might be difficult or different. I can't even begin to imagine the desire to take away something as profound as DS. Hugs.

T-rex said...

Hope is a precious thing, of COURSE it hurts when it's dashed :( I am sorry you didn't get the news you hoped for and I don't blame you one bit for wishing for SOMETHING to caveat such a strong, final diagnosis. Especially seeing how amazing he is, how well he's feeding, how he doesn't seem like he really even HAS DS most of the time, it was a good question to ask even if the answer wasn't what you wanted to hear.

I agree, in terms of acceptance you've come so far... who knows where you'll be on the whole thing in one year, in five... but no matter where YOU are, emotionally, on the issue, your son is exactly where he needs to be - with you, immersed in your love for him. There's nothing more you can do at this point other than hope for his future, as you do with all your children.

You are a good mother, Lisa. Don't ever doubt that. And you have been so strong for your family.

Kristy said...

Lisa
I understand your feelings that a person with Ds would be more affected than a person with MDS. In some ways this is true, but in other ways it is not. Yes, people with MDS may have a higher IQ, but that is not always the case. In most cases, babies with MDS reach their milestones at a quicker rate than those with Ds, but they do still need the same therapies.

I want to invite you to visit my blog www.mosaicmoments.today.com on mosaic Down syndrome (and other things) This will help you understand the differences a little better.

Also, to let you know... more than likely Finn does have mosaic Down syndrome. The majority of individuals with Trisomy 21 Down syndrome are misdiagnosed and actually have mosaic Down syndrome. The reason for this misdiagnosis is because they do not test enough cells to see the two cell lines. So, it is recommended that at least 100 cells are analyzed but 500 would be much better.

If you would like to talk more, you can visit our website at www.imdsa.org and click contact to get our organization's number and give us a call!

Kristy
IMDSA President

Laurie said...

I think this is all a process, Lisa. Everyone is going to deal with the diagnosis of ds differently. Please be patient with yourself. This is all so new still...our babies are less than 8 weeks old!
Im thinking of you and sending lots of hugs out west.
Take cre,
Laurie

Terry Family said...

Lisa,

Two of my favorite quotes:

"It is our choices that show what we truly are, far more than our abilities."
J.K. Rowling

Courage doesn't always roar. Sometimes courage is the little voice at the end of that day that says, "I will try again tomorrow."
Mary Anne Radmacher


Hope is a God given gift. Embrace it. You'll soon discover that your dreams are alive and well - they're just on hiatus.

I'm speaking from experience - my son is 8 months old and has Ds and once again my dreams are kickin! You should see me at Ds events scoping out his bride!

Kandi

nette said...

Lisa,
I am so sorry that you are feeling so devestated, with hope taken away again. Perhaps I should have thought more carefully about posting about MDS. You really are doing a wonderful job of coping with the DS diagnosis, and it will be a journey that is sure to have valleys and mountains. I wonder if any mother of a DS child ever truly reaches a point of total acceptance. Be kind to yourself, you are doing very well and it great news that he is gaining weight. Well done.
annette

rickismom said...

Oh, Gee, I'm going to have to write a whole scroll here....
1. As per kristy's post about many more kids having mosaic DS... There are studies that show that information, but in such cases the masaic amount is so small as to not make a difference. If (as recent studies show) many more kids are mosaic than what we thought, then there was always this amount, and thus the learning curve we see for most kids with DS would apply to this group as well. So don't let the new research get your hopes up. It just means that the kids we ALWAYS thought were trisomy 21 have actually a low percentage of mosaic cell lines.
2. The higher-functioning children with DS are smarter than some kids with Mosaic DS. The curves overlap.
3. [I live in Israel. There we have "health funds" which provide doctors. My health fund child developement doctor had been a real _____, and I was glad when they finally dished him.]
When my health insurence's NEW child developement doctor saw Ricki (then age 7; now she's 13), he asked me, "Isn't she Mosaic Down syndrome?"
"No, doctor, SHE is Ricki. And she has regular Down syndrome. What you see is the result of inclusion and proper education."

Leslie Duffen, who was the father of Sarah, one of the first "readers" with Down syndrome, wrote this shortly before his death:
"'Nature' versus 'nurture' is a controversial issue that will not be resolved until a
large number of children has been brought up from birth in the optimum conditions for maximum intellectual growth. This is a long way in the future if only because we still have only limited ideas on what these 'optimum conditions' are. Certainly no child, with or without Down syndrome, has yet been brought up under these conditions.

When I say that my daughter Sarah was 'congenitally above average' I am making a statement unsupported by any evidence except that her achievements are above average – so that she may well have had a head start. However it is impossible to separate the effects of Sarah's learning environment, since birth, from the effect of her congenital ability. Elsewhere, I coined a phrase 'Individual Learning Time' (ILT) and gave some quantitative estimates of the levels of the ILT that Sarah has had from an early age – though not as early as I now wish – and to a limited extent is still having. Most children, with or without Down syndrome, achieve nothing like these levels of ILT. I believe that without this input Sarah would now be illiterate, inarticulate, innumerate and physically inactive – whatever her congenital ability.
The word 'quantitative' in the last paragraph raises an important point. In most human activity it is taken for granted that the degree of success in that activity is directly proportional to the time spent in achieving success. Only in education is this factor completely ignored - to the extent that we simply do not know the extent of individual learning time in, for example, learning to read or in any other learning. It certainly bears no relationship to class teaching time." (taken from a letter of his published in Down syndrome News and Update, now available online at Down Ed.)

rickismom said...

Thought you were through with me already? LOL!

4. Translocation (about 3% of children with DS):
This is where the whole, or part, of the 21st chromosome gets stuck to another chromosome (often #14) and gets dragged to the wrong side. Translocation is significant because sometimes one of the parents is a balenced carrier. [IE, the stickage happened with the grandparent's seed cells, but the 21st chromosome that was stuck got dragged to the side it was supposed to go anyways.] This is the case in only about a third of all the translocation cases, ie, about 1% of all DS births. Depending whether the carrier is the father or mother, and depending which chromosome the 21st is stuck to, will affect the estimated risk of recurrance.
[I have a friend who has this. She has several "normal" children, a child with DS at home... and her second child with Down syndrome she gave up for adoption.]
If your chromosome report says "trisomy 21" you shouldn't have to worry about this. In translocation. the number of the chromosome the 21st is stuck to would be listed. In cases of trisomy, testing the parents would show if one has a balenced stuck chromosome. If yes, one might want to check siblings for the carrier state as well.
5. WANTING TO GET RID OF THE DOWN SYNDROME HAS NOTHING TO DO WITH ACCEPTANCE. I know that there are a lot of parents out there who say they wouldn't cure their kids if they could. This is not acceptance. I love Ricki FIERCELY , but would give up the DS in an instant if I could. Yes, I've been enriched and blessed by the experience, but for RICKI'S SAKE I would boot the DS out if I could. And she'd be different? So what? My teens are also different from what they were a few years back, and I still love THEM (most of the time that is, LOL....)

jmor25 said...

The comments by Kristy, Rickismom and terry who seem to be in the know based on their own experiences seem to awaken hope again Lis. And knowing your household and the ILT all my grandkids get because your home is a learning lab, and every inhabitiant a teacher, might give nurture a big edge over nature.

Cindy said...

I wish I could just be there and give you a big hug.

Nikki~Down syndrome Storyteller said...

This "controversy" among parents who say they wouldn't change their child, even if there was a cure for DS, puzzles me a little. Some mothers i've spoken with are so adamant about not changing their child they actually get angry over the medicines being studied to improve cognitive function! Believe me, I'm the first to love and champion my daughter all the way, give her the best opportunities I can, provide her with therapies, etc etc etc...but if I could get rid of the DS FOR HER SAKE, I would. Not for my sake. I would still be proud of her for what she has accomplished, for her example in the community, and for her positive impact on others. But the public in general is stupid and discriminatory and unaccepting. Why would I wish that kind of pain on my daughter? http://www.down-syndrome-fscts-and-fiction.com

Chrystal said...

I, too, checked the karyotype results to be sure that my daughter didn't have mDs.

And I also remember posting a thread on BC.com, asking how in the world these folks could honestly say that they wouldn't take the Ds away if given the choice. I wanted to know how long it would be until I felt like that.

My guess is that it's alway's going to be "tomorrow" for me.