Here are the symptoms can you help?
Victoria experiences Hoarseness and loss of voice very often.
Hair Loss (drastic) Sed rate was 37 at ER during hair loss
Jaundice when born / 5 lbs 6 oz 16 inches long.
Returning Papular Rashes every few months / skin then drys and peels away. rash on face,ears and chest mostly. non itching.
Consistent high platelet count since birth / High Alkaline Phosphate counts on blood tests
Burning leg and feet pain several times per week since birth / waking from sound sleep in screaming pain holding her feet then legs
Shaking all over when waking from naps when she was an infant (nervous system?)
Mini virus of measles when given MMR Vaccine/ 104 Fever
Poor appetite even while on prednisone
Very bright Green Bowel movements
Constant dry and chapped lips
When she was 2 yrs old she started screaming and holding her eyes
telling me they were burning / no inflammation when seen by Ophthalmologist over long term.
Gets puffy often when in remission with Nephrotic Syndrome
Chest xray when 3yrs was abnormal and she saw Cardiologist/ diagnosed as enlarged thymus
At one yr old Victoria was diagnosed with Pityriasis Rosea
Moderate Staph infection found in stool when in Hospital 12/2008
Her teeth are chipping very easily/ Despite large amount of milk in her daily diet her teeth are noticeably
shrinking in size and volume
All of these symptoms continue and have not gone away permanently.
Tested negative for JRA with Rheumatoid Factor test
Tested negative for Lupus ANA/ ANCA performed
Tested negative for Fabre Disease/ Blood sent to Mt. Sanai
Negative for Thyroid problems
Seen by Immunology Dr.Sher with no answers.
1. Uncle (Moms Brother) has Multiple Myloma
2. Grandmother's Gasto suspects she has Primary Biliary Cirrhosis / Liver problems
3. Her bother wakes up holding is feet crying at night too but not as often and presents no
4. Aunt has recently presented protein in urine with uncontrollable leg and arm movements/
twitches. Also she had seizures from 1 yr to 5 yrs with no diagnosis.
5. Victoria's cousin (moms brothers daughter) could not walk until she was
almost 4 yrs old with problems in her muscles. I am getting with my brother to get a diagnosis.
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