Nov 19, 2018
At 13 months, the participant was diagnosed with a tumor (sacrococcygeal germ cell tumor), which was managed with surgery and chemotherapy. After receiving chemotherapy, she developed bilateral hearing loss (sensorineural hearing impairment) as well as speech delay. At three years of age she began to experience vision loss and presented with many abnormalities of the eye (mild optic atrophy, macular atrophy, vitreoretinal degeneration), astigmatism and near sightedness (myopia). The participant was also diagnosed with Von Willebrand disease, a bleeding disorder, that has been treated with medication.
At age 16, the participant collapsed and was determined to have suffered an aneurysm of the right carotid artery that resulted in a brain bleed (subarachnoid hemorrhage). She was placed in an induced coma to facilitate recovery. The aneurysm was surgically corrected and a shunt was placed to help decrease the amount of fluid accumulating in the brain.
The participant also has cysts on her kidney and ovaries as well as abnormal lesions on the liver (nodular regenerative hyperplasia of liver). Other symptoms include skin differences (acanthosis nigricans, café-au-lait spot, axillary freckling, acne, hirsutism, skin tags), asthma, rapid breathing (chronic hyperventilation), anxiety, and irregular and overgrowth of a region of the body (hemihypertrophy).
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.