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Cockayne Syndrome awareness

Jax Joseph Steinberg came into our lives during the early hours of September 8th, 2013. After almost ten months of a very long, tiresome and complicated pregnancy; we were overjoyed to finally meet our new little baby boy. And little he is- weighing in at 4lbs 9.7oz and only 16in long at birth, Jax’s presence in our life has proven to be nothing short of a miracle.

After three short days of life, Jax was admitted to the NICU, where he spent a week receiving IV fluids and oxygen. A team of specialists watched over him while they ran blood tests and scans. After a failed vision test, four failed hearing tests, cataracts found in both eyes, low blood sugar and platelets, high red blood cell count, an enlarged malfunctioning liver, contracted muscles and tight joints, the doctors continued ruling out causes for all of Jax’s medical anomalies, making him more and more of a mystery.  Eventually, the only thing left to do was to seek the consult of a genetics specialist. A panel of tests, a dozen appointments and four weeks later, we received a diagnosis- Cockayne Syndrome.

Cockayne Syndrome (CS) is an extremely rare genetic disorder that occurs in only two per million children born in the world. It can cause a number of symptoms that include vision and hearing loss, small size, growth and development delays, and sensitivity to sunlight. The genetic mutation affects the cell’s repair process and leads to this incurable, fatal condition. In other words, Jax’s cells will not repair themselves properly, if at all, which leads to growth failure and premature aging.

CS is a spectrum disorder and can present itself at a few different stages of life. The congenital type is known as CS Type II and is considered more serious. The form of Type II that Jax has is called cerebro-oculo-facio-skeletal syndrome, or COFS syndrome, which is even more rare, presenting with prenatal symptoms. Yes, our little bambino has a rare form of an extremely rare syndrome- we always knew he would be one of a kind! His symptoms will become more severe and he will need constant, extensive care.

Unfortunately, the prognosis is devastatingly short for our Jax, the average for a child with COFS just two years old. Because there are so few people with COFS, it is hard to narrow down exactly what kind of life Jax will have. We know that it will involve surgery to fix his cataracts, dozens of doctor’s appointments, unconditional love and a strong, supportive circle of family and friends.

Jax is our son, grandson, nephew, brother. We have come a long way down this bumpy, untraveled road. At 5 weeks old, he no longer needs an oxygen tank and has hit 5lbs 4.8 oz! We are so proud of Jax and will continue to give updates about his condition. Our hope is you will all join the fight to bring awareness to Cockayne Syndrome and COFS syndrome. We can all help give Jax the best life that every child deserves and make sure his short stay with us leaves a lasting impression in medicine and in our hearts. 

- See more at: http://www.youcaring.com/medical-fundraiser/jax-s-journey/98451#sthash.YcsW12PE.dpuf

 

Keith Brunner – FNFT working out of the Causeway yard in Tampa