joint/muscle pain

Hello everyone.
I have a 4 year old daughter. She was diagnosed en utero with a heart defect called atrioventricular canal defect, which partially healed itself before her birth to be a optium primum ASD.
she also had reflux as ain infant and was dx with failure to thrive as a newborn.she also has hypothyroidism, and ezcema (eczema) and vitiligo, and chronic constipation.

I was told three years ago that she may have a connective tissue disorder.

I now suspect she may have Williams Syndrome, but we have not done any tests.


She has started to complain constantly of pain. Mostly in the back, but sometimes in the arms, legs, or even hips.

could this be from a connective tissue disorder, WS, or something else?

Thank you for reading.

[Dragon1973]

Dearest Mamij,

First off, let me say I am sorry your daughter is in pain.  This in itself must be stressful for you.  My son was prenatally Dx'ed with Down syndrome, so I understand the more unique medical challenges you face.

Interestingly enough, Williams syndrome is very much like Down syndrome, which I would guess by your research you already know.  Except for the connective tissue issues, I think they are very closely related, despite the actual chromosomal difference in that Williams is chromosome 7 that is affected and Down is 21, which is a Trisomy.  I would ask your geneticist (hoping that you have one at this point) to run a panel of the syndromes that you suspect along with common ones such as the Trisomies.  The catch 22 with Dx'ing Chromosomal abnormalities is that you almost need to know what to test for, so they can actually test for it.  Kind of hard for most people since they are looking for a diagnosis, and in most cases don't have any idea what is going on, much less know which ones to test for.  It's kind of the cart before the horse or chicken and egg syndrome.  

When I read your daughters symptoms, I know that my son has most if not all of these.  He was born with an 8mm ASD which has closed after birth spontaneously.  He will likely have hypothyroidism, (since it is one of the more common affective disorders that go with Ds, but I have suffered with it all my life also.), he has vitiligo, which I just recently in the past two months noticed.  And he definitely suffered with chronic constipation, which only recently somewhat resolved to missing only a day or two at most.  (again, I suffered with Chronic Constipation myself all my life.)  In noticing all these similarities could it be possible that she has Down syndrome?  Could she have even the milder forms of any of these because she has a Mosaicisim?  (Where not every cell is affected with the chromosomal abnormality (that you suspect) only some cells throughout the body.)  Mossaicsim can apply to any of the genetic syndromes.

You would have to share with me some other things such as facial features, percentile in hight, weight and head circumference currently.  How about her development - was it delayed?  Cognitive and physical.  I have a really concise list of markers and features if you would like to see it for your own research.  I wonder if the issue of pain might be due to hypotonia (low muscle tone), and loose joints.  This is a common problem in many genetic abnormalities such as Down syndrome, and sometimes if thought of as a connective tissue issue, can cause you to rule out other syndromes that it could potentially be if the pain is associated with hypotonia.  I am very curious to know what it is!

Have you also at this point requested a biopsy done on her tissues?  I would look there as well, if at the end you are at a loss and the genetics end up a dead end.

Do you think you could message me directly?  If not, please do post here, I just tend to get the direct messages immediately, as opposed to the posts.  I have extensive knowledge with genetics, so please do let me know if I can support you in any other way, or if I can provide you with more information.  I am a parent guide for genetics through the hospital in my city.  I am assigned to help (and offer support) to families or parents who receive diagnoses of chromosomal abnormalities.  You can reach me through MedHelp at any time.  Also, if you would like you can visit my blog:  http://welcometoourhouse-myjournal.blogspot.com  and there you can see everything about my son and also a lot about Down syndrome.

I hope that I can help you to get some ideas and ultimately so you can figure it out!

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator