WWYD...my baby...

[Pamela H in Texas]

So yesterday, I took the baby to the doctor. I wanted a physical therapy referral for her. She had been eval'd by ECI but due to new rules, they couldn't treat her unless she had been another 5% delayed. THey suggested private therapy. Our speech therapist (also seeing her) has a physical therapist friend who she thought would take her on for me.

 

So I made my case to the doctor, including showing her how the baby can push her foot back WAY too far to her shin. The doctor gave the same look everyone else has when I've shown them. She checked her wrists (yep, there too) and hips (yep) and such. She decided to send us to Scottish Rite.

 

Well, so I couldn't remember what that issue was called and I was a bit freaked that something might really be wrong with the baby. So I called my mom (an occupational therapist). We chatted about that and a number of other things. Somewhere in the discussion, I mentioned that a friend of mine had asked, upon seeing her the first time, if she had Down Syndrome. I said no, she's fine and didn't think anything else about it. Well, my mom started asking me about a number of signs of Downs and she has them!

 

So question of the day became:Can a child have a case of Downs so mild no one catches it til she's 10months old? Well, I googled it after all the kids were in bed last night. There is Mosaic Down Syndrome and the kids on google look JUST LIKE HER (those that show anything at all and yet don't totally look downs). There are even pages set up just for parents with kids with Mosaic Downs. Age of dx is 1-4 years old!

 

Okay, so as you can imagine, I've been reading and reading. I found a number of signs and my little monkey has several.

 

Now, I am *not* saying Monkey has this! I am just saying that she definitely has SOMETHING which I guess the doctor said yesterday; but now I want to know NOW and I want whatever help we need NOW. And I am scared of hurting her though in a way that seems silly cuz she really is the same kid today as she was Sunday before I knew something was up. I didn't hurt her the first month she was here, I'm probably not gonna hurt her now. And I can see online what changes to make (and the doctor told me to let her do what she can do but stop trying to teach her to do certain things like standing).

 

So....I want to tell doc what other signs I've found. And I want to know we're getting the right referral (is Scottish Rite the right one?).

 

Please tell me what to do... I just want the best for my little monkey!

 

ETA: for those who remember our original troubles....Monkey has been doing MUCH better! She is rolling and crawling now. She babbles. She has dumped all the stuffed animals out in the last few minutes. She is still LOUD; but she isn't crying and screaming all the time. And she is doing well at night (wakes up but self-soothes). ANd she is the most beautiful little thing!

Edited April 17, 2012 by 2J5M9K

[Impish]

I don't know about DS, but have you heard of Ehlers-Danlos Syndrome?

 

http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome

[besroma]

My MIL had a neighbor with a little girl very similar to yours.

 

It turns out she did have downs and the mom wished she had asked more questions about it to get her diagnosed sooner.

 

I hope she is ok and hope you get an answer very soon!

[fhjmom]

I don't have any advice about symptoms or such, but I would highly recommend Scottish Rite. They are consider one of the top pediatric facilities anywhere for the conditions they treat. I hope you get some answers soon!!:grouphug:

[Jean in Newcastle]

What are you hoping for from a doctor? Confirmation of mosaic down's? Referral to different kinds of therapy? Checking for health problems that can go along with the diagnosis? I'm typing those out because I think being clear in your own goals can help with getting the right person to meet those goals. From what I understand, mosaic down's is fairly similar to "regular" down's syndrome except that it is often "milder". So there wouldn't be treatment as such but help in allowing her to reach all the milestones that she can in her own timing. From a more medical standpoint, there are certain health problems that are more common in people with Down's syndrome so I'm sure that they would check for those too and monitor them if needed.

[Pamela H in Texas]

Yeah, at this time, I just want to know exactly what is going on with her and exactly what the doctors are going to do and what we need to do and and and and and....I just want answers NOW. I don't even know the questions yet, but....

 

I'm afraid to say "Mosaic's Down Syndrome" because I don't want to mislead them. Some of you may remember that I made a suggestion to a doctor once and my daughter's life was at stake. Now, I know that the doctor's head should be spinning to consider X and Y as well as Z; so it wasn't my fault the doctor messed up. I just am a little worried about that. I want to present facts and let them figure out what it means, ya know? So I may mention the palmar line (singular), the eyes, the joints, etc...ya know?

[sbgrace]

:grouphug:

 

I'd call or go in and mention you're seeing x and y and z that might indicate a chromosome issue especially if that Scottish Rite appointment isn't very soon.

 

Chromosome tests are going to take a while. Maybe the pediatrician can go ahead and order some. I'm not sure if peds do that. I know they hesitate with metabolics but I'd think this type of testing might be a little more straight forward. If they test you'll have the results (maybe) when you go to Scottish Rite depending on how far out that appt. is I guess. Even if they can't start that ball rolling they could assure you that you're seeing the right specialist.

 

That said, if it's not something like Mosiac Downs it would be a connective tissue disorder like EDS. Whatever the doctor was suspecting I'm guessing you're seeing genetics anyway.

 

You're doing a great job and you'll keep doing great for her while you wait for firm answers. Maybe a forum for Downs could suggest some things you could do for her "as if" while you wait. You're being such a wonderful advocate and help and if you don't do anything different than you have and are you'll still be doing great. :grouphug:

 

One more thing about your last post. In chromosome stuff I really don't think there is any danger of misleading. And I think Mosiac Downs or similar is going to be a lot easier to test for (rule out or in) compared to at least one form of EDS if I recall. Of course things may have changed on the EDS testing since I was in that world. But I think you'll find you'll get a yes/no and they know something is up so if it's no they won't stop looking...and even if they try you won't let them!

Edited April 17, 2012 by sbgrace

[Momof3littles]

It is possible although not common. It may partly depend on what the situation was at birth and how alert the docs were at that time, what kind of care biomom had prenatally, etc. Depending on how that went, it might have been more easily missed.

 

I worked in EI and once had a child who was over a year old before getting a DS diagnosis. His family had moved to the US from Vietnam. His diagnosis was missed in Vietnam, and for a few reasons, it wasn't detected in the US until we took note of several markers he had.

 

If she has low muscle tone, Patrician Winders has some great books that may be helpful to you. I have used exercises and activities from her books for children with low tone even without a DS diagnosis because they are still relevant.

http://www.amazon.com/Gross-Motors-Skills-Children-Syndrome/dp/0933149816 I would run it by your doc just in case there are any concerns about her doing exercises for children with low muscle tone...I'm not sure what else they are looking to rule in/out at this point.

The Patricia Winders book also has interesting info on when children with DS typically achieve various milestones and so forth, which is nice to know.

 

I have worked with a few children with the Mosaic form of DS as well.

 

I would show the physicians you deal with your concerns over various potential markers, etc. If they are alert, they will likely want to pursue further testing.

 

In your state or region, if she has a DS diagnosis will that automatically qualify her for therapy even without any additional delay? Sometimes a diagnosis is enough to qualify for services even if they don't hit the % of delay typically needed in order to qualify.

 

Do you have any developmental peds in the area? They (fairly) routinely do genetic testing and the ones I've worked with are very good at looking at facial features and other physical markers etc. and coming up with potential diagnoses, even for fairly rare genetic disorders.

[mumto2]

No advice to give. I hope you get your questions answered soon! :grouphug::grouphug::grouphug:

[SKL]

I'm glad she's doing better and that you have a referral. If I remember correctly, you got custody of this baby very recently, correct? I would be wary of jumping to any conclusions just yet. It may be a while before you really get to know her well enough to determine whether her issues are long-term or short-term. (Though, since mosaic DS is a chromosome disorder, that should be easy to confirm.)

 

I recall when my dd had been home a little while and was not doing things like other babies. My friend asked, "are you sure she's not a Mongoloid?" Now she's accelerated in school. Her issues were complex and I may never know exactly what they were/are, but mostly she just needed time to get past her disruption and catch up. Oh, and her vision was terrible, so that didn't help matters.

[Unicorn.]

I don't have any advice about symptoms or such, but I would highly recommend Scottish Rite. They are consider one of the top pediatric facilities anywhere for the conditions they treat. I hope you get some answers soon!!:grouphug:

 

Agree! Scottish Rite is where you want to be. :grouphug: Monkey is blessed to have you in her corner, fighting for her!