Batten disease is a nervous system disorder that is extremely rare and can be fatal. If your 5-10 years old healthy child starts exhibiting vision problems or seizures, they may be suffering from

Pediatric Bruton Agammaglobulinemia or X-linked Agammaglobulinemia is a relatively rare immunodeficiency disease that mostly affects boys. The rare inherited disease makes them prone to infections in the sinuses, middle ear, and lungs. Sometimes,

PKU is a rare genetic disorder in which Phenylalanine Hydroxylase enzyme is absent in your child which is involved in the metabolism of Phenylalanine amino acid converting into Tyrosine. If your child has

Candle Syndrome stands for Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature. This is a rare auto-inflammatory condition and usually develops in your child during the first years of life. It arises

Pompe disease is a rare inherited disorder with the absence or deficiency of an enzyme known as acid alpha-glucosidase (GAA) in children caused by mutation in the GAA gene. As a result, the

Medical Information about Krabbe Disease: With so many confusing things out on the internet, we also want you to also remember that Take Part supports children like yours on a day to day basis!

Gaucher Disease If this is our first blog you are reading, we like to get some medical professionals to do some research so we can understand and help you (as a parent or

Adrenoleukodystrophy Wow - as we send out our medical professionals to find out about rare diseases, understanding them is difficult, but pronouncing this is a whole new beast! Fortunately it is more commonly

Hunter's Syndrome If this is our first blog you are reading, we like to get some medical professionals to do some research, so we can understand and help you (as a parent or

PFIC refers to the disorder which disrupts bile production in your child and leads to advanced liver disease, which usually causes liver failure. In PFIC children, their liver cells cannot secrete enough bile