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Living with the Shadow of Arc Syndrome

Ten years ago we buried our first child. A son, he was three and half months old when he died, yet he weighed less than when he was first born. He suffered from Arc Syndrome, a rare genetic disorder. In the following 10 years we have cheated the odds and won, but now we again face the agony of the disease.

Arc Syndrome (arthrogryposis, renal tubular acidosis, and cholestasis) is so rare there are only a handful of cases each year in the UK. It is a metabolic disorder: affecting the kidneys, the liver and central nervous system. The arthrogryposis is the only really visible part of the disorder- resulting in contractors on some or all the limbs, basically the baby cannot straighten their legs or arms, in some cases. The renal tubular part results in “leaky” kidneys- the baby will lose much needed nutrients out their kidneys and will be prone to dehydration. The cholestasis causes poor liver function, this makes it hard to the body to absorb fats, and causes jaundice. Other affects can be deafness; abnormal platelets, resulting in a tendency to bleed; poor immunity; and dry itchy skin.

For parents facing the condition information is painfully limited, due to the rarity of the disease. Doctors face treating an illness about which little is known. In writing this I hope to share some of the things which have helped us:

  1. Milk- I believe in the benefit of breast milk to babies. I express milk and use it in nasal gastric feeding. It is easier for a delicate gut to digest, and provides help with immunity. But have also used caprilon and infatrini peptisorb. Both of these formulas contain high proportions of medium chain fatty acids, which do not depend on liver function for absorption. The infatrini peptisorb is also higher in calories, and contains a higher amount of proteins.
  2. Vitamins and Supplements- additional vitamin supplements can help with liver function, and other supplements can help replace what the kidneys lose.
  3. For anyone reading this, facing Arc as a diagnosis, our love and prayers go out to you.

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