**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.
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.
“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.
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)
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)
“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.
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.
Thank you for this informative post. My friend has a baby with this, and your research is very helpful.
ReplyDeleteHi i had a baby girl with this condition she died at the age of two months. Now im expecting my next child and it is also to have the same disorder :-(
Deletehi i am a health professional and am currently working with a family who have had their 4th child with ARC this information was brilliant thank you
ReplyDeleteHi, I just wanted to ask about the family with four children with the same illness. Have any of them survived? what sex where the children? and is there any treatment now available?
DeleteMy son is 6 years old and has this syndrome and i will love to get intouch with families that have kids with this syndrome. Thank you for information.
ReplyDeleteHi, my son also has ARC. He is 6 months old, I would love to know more about your son who is 6!! Please email me, emilyjelliffe@gmail.com and check out my blog: http://jelliffemurphy.wordpress.com/
DeleteI would love to connect with other parents who've experienced this!
Thank you Andrea for being a guide and a bridge!
My daughter is 8 months old and has just recently been diagnosed with ARC syndrome. I would love to get in touch with the both of you! My email address is cbelis31@gmail.com!
ReplyDeleteHi everyone my daughter is going to be five years old and she had had ARC Syndrome since she was born. Every case is very different. It is a very stressful thing to see your child go through the things that they do. My best advice is for everyone to get together and try and create a fundraiser for the research of this rare Syndrome. Medicine like actigal,phenobarbital,raphamtin help with some of the itching but does not stop it. My best advise is to bring attention to this syndrome because the hard part is not knowing how to deal with a child like this. Kids are very resilient but they do suffer.
ReplyDelete