Monday, February 23, 2009

Testing and Other Opportunities

John at times goes to meetings at the hospital with my wife since she sits on a Women's and Children's committee at our local hospital. Other Pediatricians as well as OB/GYNs also attend. When we had John, a lot of the Drs at the hospital knew of our newest addition as well as the fact that he was born with Ds. It is interesting to see their reaction

So when my wife takes him to these meetings with her, there is the opportunity for his delivering Dr. to see him. I get real excited about this because it gives us a chance to show him John's progress without us saying a word. Well, at one of the recent meetings, his delivering OB asked to hold him which he did and played with him for a little bit.

We have never talked with him about John's progress but we hope that his interaction with John will lead to more positive outlook from OBs toward children with this syndrome. We know that the wheels of change turn slowly but this may be the start of turning that wheel.


Also, it has been suggested to us that we might consider taking a sample of John's cells and getting a biopsy done. This would tell us whether or not all of John's cells have the 3rd chromosome at 21. This has come up more than once with us and other Dr friends because of the fact that John is so alert, moves so well and that he didn't have any internal issues at birth.

While we are thankful for John's progress and do feel that the Lord has blessed him with good health and it is very exciting for us to think that our son may not be affected in 100% of his cells, reality tells us that having him tested would not change a thing. John is who is and he will become the person he is to become.

Sure, we have many questions as to who John will become and what he will be able to do. But I don't think any test can give you that information. For us, we have found that the nearest answer to that question is to provide him with opportunities to learn and grow.

As his parents, we had always thought that John was progressing well and was born with abnormally good health for a child with Ds, for which we give God the credit and glory, but then again we are biased. So it was good to hear another Dr make such a remark about him.

So for now, we are content with not knowing the outcome of testing. I would like to hear from those of you that have experienced testing. Have any of you encountered this? If so, did you test and did it change anything for you?


Ruby's Mom said...

I have thought many times about taking Ruby in to see my OB so he can see how well she is doing.

The neonatologist at the hospital where Ruby was born was surprised when her chromosome test came back and she had Down syndrome and not Mosaic Down syndrome because Ruby has good muscle tone and no internal problems.What test are you talking about?I know we had a FISH test done that comes back very quickly and then the test that took a week to be ready.I don't think it would have mattered to me if Ruby had Mosaic Down syndrome,I think I would feel the same about her as I do now.
What does that mean if it isn't in all of John's cells ?That he might be higher functioning?

Megan said...

It's a misconception that people with MDs are higher functioning. There's been nothing to prove that as true. Stella is very alert, has good tone, no internal issues and has T21. However, if you didn't do the full chromo work up, I'd do it just for your peace of mind.

Cathy said...

What a wonderful opportunity for John to get to advocate for himself. We were blessed to have a very devout Christian OB (that's why I picked him!). He already saw the value in every life. I know God is almighty, so I pray BIG. I pray that every doctor would see the value in ALL life.

Lily is very healthy. She did have an AV canal defect that has been repaired. She eats well. Her PT says she has great muscle tone. Although I dislike the term, many say she seems "high functioning". Sometimes I wonder about having the extra testing. Then I think...who am I doing this for??? It won't change who Lily is. Do I just want to be able to say "Well, she doesn't have the typical Ds"? Again, that's for me, Lily doesn't care.

I guess if her pediatrician ever recommended it, we probably would go ahead. But since I doubt that he will, I don't think we will be doing it. My heart is already bursting with love for her...nothing will or can change that!

Angela said...

Yes, we had the chromosomal testing done shortly after B's birth. I thought it was standard procedure. It turns out that B has regular old T21. But he has surprised and impressed us with his determination and progress.
I would do it just so you could know. There is another kind of DS called translocation. I wrote about the three kinds of DS in a post in my blog way back in October.

Syncopa said...

We were encouraged to do further testing, as well, for the same reasons; good tone, very alert, no congenital problems.
Bene's pediatrician was convinced she has MD.
It is actually possible to have a regular T21 and still be in good health, be alert and develop just fine :-)
My advice to you is listen to what your hearts are telling you. If it feels right, then do it. If it doesn't, then just leave it be.

Lovin Mama said...

I see Goldie's delivering OB at a nearby church once in a while. Sadly, she seems just as uncomfortable as she did when Goldie was born.

We declined further genetic testing for the same reasons you mentioned. My neighbor's son has translocation DS, so the parents were tested to see if they were carriers. (they aren't) I agree with Cathy's comment, I don't like the term "high functioning" either.

JaybirdNWA said...

Ruby's Mom, I guess to some people it would mean that although I'm really not sure that you can say that and it be accurate.

NayNay said...

Jay, I continue to feel so blessed to watch you and Joy interact and care for our precious little John Austin. Your love for him - no matter what his "genetics" show, is such a blessing to me. I am so thankful for your testimony. You are such awesome parents! I love you so much, and I love that precious little boy. I pray God will daily give you guys wisdom to know what is best for all your children - you are continually in my prayers. I love you so much!!!!!

Laurie said...

Hi there! Just wanted to thank you for your comment on my blog.

We have never been given any reason to think that Dylan has anything other than T21, but if we were, for my peace of mind, I would probably want to know. No, it may not necessarily change anything, but it may be nice to know.

Monica said...

I am so glad that your wife can bring him to these meetings, without any words what a powerful teaching to these Drs this is. It actually makes me very sad that still in this day there are Drs who do not think a baby with T21 can be alert and bright.

John is a doll!!!

Andy and Ellen Stumbo said...

Dear Jay,

I am catching up on blog reading and found this post.
There are a few things I would like to share with you.

1)Mosaic Ds is still Down syndrome. There are still delays in all areas of development. Usually there is no difference between individuals with T21 and MDS. Even health issues are the same. Like someone said, a person with regular T21 can be very alert and develop at a more typical phase.
Individuals with MDS also have a higher incidence of Apraxia, so in the speech department, they need more work.
My firnd Kristy is the president of MDS association. Her blog is and she has a ton of information. She can answer many of you questions. She wrote a post for me last October and I believe it is titles "On Mosaic Down syndrome" All her info is there as well. She is wonderful! She knows a ton about all this stuff.

2) Be very aware that once a child is diagnosed with MDS they will loose all their services! It is ridiculous and stupid, but this is our system, and as a parent, you just have to work the system sometimes (as you know we have had to in order to get the waiver for Nichole)

Talking to Kristy and going back through the results we got when Nichole was born, I have very strong suspicions that Nichole in fact has MDS. As a matter of fact, I am almost certain that she does (and not because she is doing better than her peers with T21, by no means, she is very average for a child with Ds)

I can ask for the testing, and Kristy has offered bringing Nichole so she can be part of their research. But I am faced with the fact that if MDS is confirmed, we really are on our own. No medicaid, no waivers, no free therapies, and no extra help for her as an adult. at least, we would have to fight the system very hard and for a long time in order to get Nichole to qualify for those services. Services that most people with T21 automatically qualify for.

This is just FYI.

Kristy's site does have some specific things to look for that are possible signs of MDS. Nichole has those.

Kristy helped me translate" the genetic lingo we got with her blood work. It actually suggests that they found typical cells (not that simple english mind you, you have to know what the lingo means). Because they were looking for an extra chromosome, they found it, she got the diagnosis, but they did not look further.

Like I said, Nichole looks and develops not any different than her peers with Ds. As a matter of fact, she might be in the slower end of things, at least when it comes to gross motor skills.

Remember, it is not about the number of typical cells, but where those are. I know there are very invasive tests done through biopsy in order to rule out (or find) MDS when it is suspected. I am not willing to put my daughter through that.

Okay, I am rambling here.
I just know that when I was talking to Kristy I started to hope for MDS, maybe thinking that it was "better" than typical Ds. I realized then how much I was starting to grasp for something that seemed "better" in my eyes. Thinking, "she is not affected all the way." And I felt very convicted about that, and I did not like where my heart was going. Does that make sense to you? Like MDS was better than T21. It is not! It only makes a difference when "most" cells are typical IMO (from what I have seen).

So as much as I pressured doctors, and we were about to do blood work again, I changed my mind. I know for me it would not be healthy, I would unfortunately, but honestly, feel like I was lucky, and my daughter was better of. I NEVER want to be that person.

I am aware some parents do need to know, simply for a peace of mind. To me it does not matter. But I would really encourage you to talk to Kristy.

Sorry about the LOOONG story :)

Andy and Ellen Stumbo said...

One more thing, just for the record...

Nichole has been diagnosed with T21, therefore she has plain ol' T21 and always will.
I love it that way! :)

The big picture is, it really does not matter.

Hector and Jennifer Varanini Sanchez said...

We too have been asked to do further testing....a 100 cell workup and if that still showed T21 then a skin biopsy. We did the 100 cell count but they were only able to identify 32 cells and all of those showed T21. The geneticist then recommended the skin biopsy but I said no thank you. Again, it won't change anything for us. It is interesting stuff but really not crucial at this point. Joaquin is healthy and thriving and we are at peace whether or not every cell in his body has T21 or not. Again, there is no way to test every cell. One of our DS specialist doctors said that in time, we will probably see that every child has some form of mosaicism and that is why we see such a wide variance of health and developmental abilities. Why some have heart issues and some don't, some have duodenal atresion and some don't, some have hearing issues and some don't, etc etc.