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.

21 comments:

  1. Thank you for this informative post. My friend has a baby with this, and your research is very helpful.

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    1. Hi 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 :-(

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  2. hi 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

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    1. Hi, 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?

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    2. I am so sorry, I have not heard about the family with 4 children. I wish I could help you with your questions. It is hard for me to make contact when comments are made anonymously.

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  3. My 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.

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    1. Hi, 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/

      I would love to connect with other parents who've experienced this!

      Thank you Andrea for being a guide and a bridge!

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    2. I am amazed and excited to see that your child has been successful with ARC syndrome for 6 years. It is hard to make connections through anonymity, please email me with your information. I would love to hear of your experience as you are an important resource to those whose children have ARC.

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    3. My daughter is 6months old and also has ARC. Would you please tell me what treatments your son take? I have been told from the doctor she cannot live longer with this disease...:(

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    4. My cousin is of 18 years and she was diagnosed recently with ARC. She had severe jaundice, urinary bleeding, haemoglobin 5, and joint stiffness. It appears that all are talking about small children. Does anybody have older kid having so?

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    5. This comment has been removed by the author.

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    6. It's great to hear about a 18 years old ARC girl. Could you please advise the hospital, doctor, treatment... and any relevant info?
      My name: Hoan V.V.
      Email: hoan.vu.ose@gmail.com
      Thanks a lot!

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  4. 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!

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  5. Hi 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.

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    1. Hi, I would really like to get in touch with you to learn more about your child living with ARC. In fact, any parent who has a child with ARC that would be interested in connecting, please do. It is my goal to support, sustain and expand the quality of my son's life. I believe that learning more from other parents who have walked this road is paramount. Please email me at emilyjelliffe@gmail.com or comment on my blog http://jelliffemurphy.wordpress.com/

      Thank You, Emily

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    2. Hi, my son have 9 months and he has the ARC syndrome. When he was 45 days of age he was operate of AVB(obstruction bile) with Kasai technique. His kidneys aren't work good and he needs substances for regulating the base levels. He has infections and bleeding. At the moment he is fine but he doesn't get to grow up. I look for a food in order to my child gains weight. Someone can help me? I think that is very important create a fundraiser for the research of ARC Syndrome. I would contact with you and others parents with the same situation. Please email me crcabrero@gmail.com.
      Thank you Andrea for being a guide.

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    3. I agree that we need funds to figure out a treatment procedure for ARC children. Have we got any till now? I wish to give a hand to make that happen.
      Thanks.

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  6. hi ! andrea how are u, I am a pedritician working in sultanate of oman , my stuff nurse son suffered from same ARC syndrome,she wants to know any latest treatment in world. please inform me,

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  7. Hi!!
    My best friend just got her first child 3 month ago. She was very difficult to get a baby during her 10 years marriage. Finally god gave her one but her daughter has ARC syndrome. Since she is 42 years old, this one can be the first and last one.
    is there any latest treament in the world?




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  8. Hi dear parents.i had also a son with ARC.he died when he was 2months old.we tried every things for him but he died.the lose of my sunshine is very hard for me.i miss him so much.he was an angel and angels have to be
    in heaven.
    Mina
    my second baby had also ARC.
    i hope i can get one day a Baby who is health.
    I wish u all mumys the best .

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  9. I feel for all of you. God blessed me with two beautiful healthy children who are 19 and 21. Believe in our Savior and He will help you through the good times and the bad times. I was diagnosed with leukemia AML for the second time and went through a bone marrow transplant. I am doing well now and believe God does miracles. Keep your Faith.

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