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question about possible CTD in 6 year old
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question about possible CTD in 6 year old

My 6 year old was born with a heart defect and had respiratory and digestive issues.  She was dx'd with hypothyroid at 1 year old and was put on synthroid.

Her pulmonary dr was very concerned about all of her "random" health issues and suspected an underlying issue and sent us to a geneticist.  The geneticist spent 5 minutes with her and said "I think she has a connective tissue disorder....that could have caused her heart defect; follow up with your cardiologist"   and blew us off.

My daugther has been healthy and active.  For the past six months or so, she has pain in her joints (especially her elbows, knees and fingers) the pain is greatest when she first wakes up.

Last night, she had baseball practice and spent about 10 minutes running bases and she had bad pain in her calf muscles that kept waking her up from her sleep all night.

could this be a connective tissue disorder and if so, what kind of dr does she need to see?

thank you!
3 Comments Post a Comment
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1530171_tn?1362547225
Hi mamij.

Did your daughter have a mitral valve prolapse diagnosis?
Were her Hyaluronidase levels and her Hyaluronan viscosity checked?

This is challenging. It likely takes 3 specialities to piece this together.
Cardiologist, Rheumatologist and Genetisist.

Osteogenisis Imperfecta, Ehlers–Danlos syndrome, Marfan syndrome and their variants (genetic disorders ALL linked to cardiac defects and connective tissue disorder) have to be ruled out.
Also need to rule out Magnesium deficiency -tissue, not serum Mg.
Were any of these checked? Any other tests?

Let me know your thoughts on this and I'll wait for your answers, and any details you may want to add.
Take care.
Niko
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Avatar_f_tn
Thanks for your response, Niko.

My daughter had av canal malformation, which was found before she was born. She grew tissue over her VSD, which closed the bottom half of her heart, which changed her defect to partial av canal or atrioventricular septal defect. She still has only one atrioventricular valve.

I dont think they actually tested her for any syndromes, they just said that she had none.

I forgot to mention that she has mild  obstructive sleep apnea.

They did say when was pregnant that 80% of babies that have Av canal defect have downs , but she doesn't.

I don't know abou the other tests you mentioned; I would  have to check with her dr.
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Avatar_f_tn
have you heard of vcfs..or 22q11.2? have your doctors mentioned this to you? it is so much more common than you think...ask your doctors for advice on this...there is so much help and support regarding this also..
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