Gaucher’s disease is a rare lysosomal storage disorder that affects approximately 10,000 people worldwide. This disorder comes about when there aren’t enough glucocerebrosidase enzymes present to properly breakdown fat molecules and they begin to accumulate. This accumulation occurs within cell walls, and when it becomes too much, the cell swells to much larger than its […]
Tag Archives | resources
Hurler Syndrome: an Overview
KIDS & PARENTS, MEDICAL NEWS April 8, 2011
Most metabolic storage disorders stem from a key digestive enzyme missing from a patient’s immune system. Hurler syndrome, medically known as mucopolysaccharidosis I (MPS I)p, is caused by just that. Patients with Hurler’s syndrome, an inherited metabolic storage disorder, lack an enzyme that is responsible for the breakdown of complex sugars in the body. While […]
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
MEDICAL NEWS March 21, 2011
Inflammatory disease comes in a wide range of varieties, from arthritis to pulmonary conditions. While all are relatively serious and require some form of medical attention, chronic inflammatory demyelinating polyneuropathy (CIDP) should be taken very seriously. What is CIDP? Chronic inflammatory demyelinating polyneuropathy (CIDP) is a progressive neurological condition that causes weakness and impaired function […]
Neutropenia – An Overview
WELLNESS & FOOD March 11, 2011
The human body has a number of mechanisms used to combat disease. One in particular is the manufacturing of neutrophils. These white blood cells are produced and mature in the bone marrow over the course of about two weeks. Once released, these cells circulate throughout the body for six hours in search of foreign substances […]
Fabry Disease
MEDICAL NEWS March 8, 2011
Our bodies contain a number of enzymes which break down compounds and make it easier to digest and remove certain particles from our systems. Some of these enzymes help us break down food, while others go after compounds our bodies deem foreign and remove them to prevent us from getting sick. One enzyme in particular, […]
Myasthenia Gravis: An Overview of the Disorder
WELLNESS & FOOD December 16, 2010
Myasthenia Gravis (MG) – try saying that one ten times fast. This chronic autoimmune disorder is mainly characterized by variable weakness of voluntary muscles, which often improves with rest and worsens with activity. However, with the proper care and treatment, those affected can still lead an active life. Let’s go over the basics, shall we? […]
What You Need Know About MS
MEDICAL NEWS December 4, 2010
Multiple sclerosis (MS) is a disease that affects the body’s central nervous system, which is made up of the brain and spinal cord. Just as MS can vary in its degrees of severity, so do its causes. While research continues on the disease, here are a few factors that are believed to contribute to MS: […]
Choosing Hemophilia – and Other – Medical Professionals
MEDICAL NEWS November 29, 2010
There are many things to consider when choosing the right professionals to guide you and your family in the management and treatment of a bleeding disorder. You obsess over every bump, tumble and scrape, and expect the doctors and nurses taking care of you or your child to do the same. Here are some important […]
The Decision to Self-Infuse: A Critical Aspect of Hemophilia
WELLNESS & FOOD November 4, 2010
One of the most important aspects of hemophilia is, as with any ongoing medical condition, knowing your options when it comes to management and treatment. In past posts we have covered this topic in great depth. Here are a few more inspiring stories of how individuals with hemophilia have made the decision to self-infuse: Taking […]
Fabry Disease Children’s Books
KIDS & PARENTS September 13, 2010
‘Joe Learns about Fabry Disease‘ is a great children’s book that is a tool for teaching kids about Fabry Disease. The book not only explains the condition but it also teaches readers about how it is treated.