ARC syndrome

I hope to add much more to this page about our sons disease, ARC syndrome. For now, here is a general FAQ about ARC.
**If you or your family have/had a child with ARC, or if you have any additional information, please contact me!

What does ARC stand for?:
A (arthrogryposis), R(renal dysfunction), C(cholestasis)
            Arthrogryposis is stiffening/contractures in the joints. Our son’s main joint contractures were in his knees. He kept them drawn up, and even with force, they did not straighten all the way. He worked with physical therapists that helped increase his range of motion, and strengthen his muscles.
            Renal dysfunction- ARC babies tend to keep in what the body normally tries to get rid of through urine, and also gets rid of valuable substances that the body needs. Our son had trouble regulating the acid and base levels if his urine. Medicine was used to help regulate these levels as well as possible.  Care under a nephrologist is helpful with this.
            Cholestasis- Bile, which is normally made in the liver, is not made in babies with ARC. Prior to diagnosis, our son was jaundice (didn’t show up until 3 weeks), and was said to be in liver failure. It appeared that his bile ducts were not working. Care under a gastroenterologist or herpetologist is helpful with this.

What is ARC syndrome (ARC)?:
Here is one of the simplest explanations I’ve heard, “ARC syndrome means babies are born with impairment to kidney and liver function, bleeding problems and weak muscles. This usually leads to early death. “  (source. 2004)
ARC is a rare, severe genetic disease, this means that it is passed down from parents to child. Both parents must have the gene mutation for ARC syndrome for it to be passed to a baby. There is a 25% chance with every pregnancy that their child can have ARC syndrome. This probability is extremely rare however, which explains its rarity, and also why people are not randomly tested.  There are approximately 100 known cases of ARC in the world.

What happens in babies with ARC?:
“Babies with ARC do not produce bile in the liver (cholestasis), their kidneys waste important substances in the urine (renal dysfunction) and they are born with joint contractures[stiffness](arthrogryposis). Children with ARC grow very poorly. The additional problems in the babies with ARC are the frequent infections and easy bleeding due to poorly working platelets. Babies with ARC very rarely live more than 1 year and may die because of severe infection or bleeding.” (Source. 2009)
Due to the liver and kidney problems, our son also had very dry, itchy skin. He scratched a lot, but we would occasionally put infant hand covers on to keep him from hurting himself. We were advised by his pediatrician to use lotions for sensitive skin. We tried Eucerin, Lubriderm, and Aveeno. Please share any other treatments for the skin. 

Who is researching ARC syndrome?:
As far as I’m aware, the only people doing any research on ARC in the world is Dr. Paul Gissen and a team of scientists at The University of  Birmingham, England. This is where our sons DNA was sent for testing to confirm his diagnosis. If there is anyone else who tests for, or researches ARC, please contact me with this information, as I am unaware. 

Why test for gene mutations?:
The discovery of the mutated genes which are the cause of ARC  helps doctors to give a 100% accurate diagnosis. Also, knowing about the mutated genes, “will not only increase understanding of how the disease develops, but will, eventually, provide hope of a treatment for affected infants." (Source. 2004)

What is the treatment for ARC?:
“At the moment there is no specific treatment for ARC. The doctors try to help with the growth by giving special extra nutrients, vitamins and fluid. Any infection is dangerous and needs treatment. However, it is difficult to say at the moment why some children are very severely affected and die very quickly (first few weeks) and other may survive beyond 2 years. These longer survivors probably have milder mutations (gene faults).” (Source. 2009)

What types of medical care providers can help?:
Our son saw a number of different specialists. We saw his pediatrician often for lab results so medicines could be adjusted accordingly. He also saw a pediatric gastroenterologist (his physician was an expert on liver disease and cholestasis); a nephrologist (kidneys); geneticist, who helped us with questions, and DNA testing; an occupational therapist and physical therapist (helped him with his muscle strength, range of motion, eating, etc…).  Isaac also saw, on occasion, a pediatric ENT (ears, nose & throat) specialist when he began having extensive nose bleeds.