Mercaptamine is a medicine that stops build up of an amino acid called cystine in the body. Large amounts of cystine can build up in the body causing damage to tissues and organs when a child has a condition called cystinosis. Mercaptamine eye drops are prescribed to reduce build up of cystine crystals in the eyes.
The first children to receive a genetic diagnosis through the 100,000 Genomes Project have been given their results at Great Ormond Street Hospital (GOSH), part of the North Thames Genomic Medical Centre (NTGMC.)
Rituximab (brand name MabThera®) is a relatively new medicine which works on the immune system. It removes some of the white blood cells in the body which are called B cells. Removing these stops the production of antibodies that may play a role in your child’s illness.
Pharmacy is defined as the study of medicines. It involves studying how medicines are discovered, developed and made. It also covers how medicines work in the body to prevent or treat disease, and how active ingredients can be made in to medicines.
A gastrostomy is a surgical opening through the abdomen into the stomach. A feeding device is inserted through this opening. This allows your child to be fed directly into their stomach, bypassing the mouth and throat.
A gastrostomy is a feeding tube that is inserted directly into the stomach either surgically under direct vision (open or laproscopic), endoscopically (with a camera), or radiologically (x-ray guidance). A gastrostomy tube allows the delivery of supplemental nutrition and medications directly into the stomach. It also provides a mechanism to drain gastric contents if required. In order for gastrostomy feeding to be successful the child or young person must have a functioning gastrointestinal tract.
The anaesthetic team consists of a consultant (or specialist) anaesthetist, sometimes assisted by a junior anaesthetist, and an anaesthetic assistant, usually a nurse. An anaesthetist is a doctor who makes your child go to sleep and stay pain-free during an operation. They will stay with your child for the whole operation.
This information sheet from Great Ormond Street Hospital (GOSH) explains about generalised severe junctional epidermolysis bullosa (previously called Herlitz junctional EB) and how it can be managed. It also contains suggestions for making everyday life more comfortable and contact details for further information and support. This information sheet explains about the generalised severe junctional form of EB.
A syndrome is a collection of signs that are often seen together. Sturge-Weber syndrome (SWS) is a condition affecting the skin, brain and eyes. It is named after the doctors who described it in the late 19th century and early 20th century.