mixed connective tissue disorder

Please Help
i have just returned from the Royal North Shore hospital Sydney where my 9 year old daughter has been diagnoised with mixed connective tissue disorder, she was addmitted on sunday with very high fevor butterfly rash on her face and body, swolen joints, eratic blood pressure numbness and pin and needles all over her body they have administered cortosoid and antibiotics, she is a very sick little girl, they said today ther is evidence of muscle fibre damage, I have never heard of this desease before, what do I do ? where in the world is the best specialist i can see, please help I am desperate...

[Debbie22]

I am so sorry to hear about your daughter. I was diagnosed with MCTD overlaped SLE about 1 year ago. . Make sure that you have COPY OF ALL BLOOD WORK AND TESTS THAT WERE DONE AND TAKE THE BLOOD WORK TO A RHEUMATOLOGIST!  Make sure that you follow up with a rheumatologist... make a list of questions and ask for especific tests to CONFIRM the hospital diagnosis. Be your daughter advocate and be on the top of her health...

Please keep us posted about her recovery.

Below is some info about it. I hope it helps. My best wishes to you!

Mixed connective tissue disease (MCTD) is a systemic, autoimmune connective tissue disease. Clinically, patients exhibit varied combinations of features common to other autoimmune diseases such as systemic lupus erythematosus (SLE), polymyositis, rheumatoid arthritis or systemic sclerosis (scleroderma). MCTD is often referred to as an overlap syndrome.
Your doctor may suspect mixed connective tissue disease based on your signs and symptoms. A physical exam may be conducted to look for signs such as swollen hands and painful, swollen joints.

A blood test can determine whether you have a certain antibody in your blood that indicates mixed connective tissue disease. The presence of this specific antibody — called U1-RNP — can confirm your doctor's suspicions.

Mixed connective tissue disease usually develops slowly, making it difficult to diagnose. As your signs and symptoms evolve — sometimes over many years — your diagnosis may change. Many people are first diagnosed with lupus and later re-diagnosed with mixed connective tissue disease. Others begin with a diagnosis of mixed connective tissue disease only to later find they have lupus or another connective tissue disorder.

Diagnosis
•Indications for testing – rheumatologic disease presentation with overlap features
•Laboratory testing
◦Alarcon-Segovia criteria (easiest to use)
•Serological – antiribonucleoprotein (anti-RNP) ≥1:1,600 plus 3 or more of the following 5 criteria
◦Edema of hands
◦Synovitis
◦Myositis
◦Raynaud syndrome
◦Acrosclerosis
◦Initial testing
•CBC – test for presence of mild anemia, leucopenia, thrombocytopenia
•ESR – determine if extremely elevated in order to suggest possible underlying disease
◦Connective tissue antibody testing
•Initial screen – antinuclear antibodies (ANA)
◦Centromere pattern is diagnostic and usually >1:1,000
◦Speckled pattern, order extractable nuclear antigen (ENA)
•Multiple autoantibodies may indicate MCTD or other autoimmune diseases
◦RNP antibodies found in 95-100% MCTD patients
◦RNP antibodies considered specific for syndrome if other antibodies negative
◦Other positive antibodies include double-stranded DNA (dsDNA) (20-25%), Smith and ribosomal-P
•Other tests
◦Immunoglobulins – hypergammaglobulinemia
◦Rheumatoid factor – often positive