Yesterday, the governor of Illinois signed the groundbreaking bill that requires newborn screening for MPS II (Hunter Syndrome) and MPS I (Hurler, Hurler-Scheie or Scheie Syndrome) within an infant’s first 24 hours of life.
Veronica Jones, a mother of two boys with Hunter Syndrome whom we we recently spent time with at the MPS Family Conference, was one of the advocates who championed the bill. Read more about her story and watch a video of the Jones family – New Illinois Law Raises Awareness About Rare Disease. For more information on newborn screening for MPS, see the articles listed at the end of this post.
We are incredibly excited about the potential to diagnose children early so that families can avoid the search for answers, get treatments earlier, and hopefully (and most assuredly) allow children to live longer and healthier lives. The law contemplates that screening should begin within 3 years of the law’s passage, but supporters are hoping that the screening tests needed can complete development and hospitals can begin screening sometime next year.
Especially given the intrathecal clinical trial and the potential to prevent or halt brain decline, early diagnosis is especially important. Our hope is also that through the blood and cerebrospinal fluid testing in connection with the trial, markers can be determined for the brain affect of the disease so that children and families can be spared the loss of skills and cognitive effects of the disease, thereby hopefully giving children much longer and healthier lives.
But here I pause … hearing word of the new law does cause some reflection. On the one hand, had Case been diagnosed at birth, we could have begun treatment earlier and probably prevented many of the physical effects he’s suffered. However, in our case, we would have missed a miracle and two years of blissful ignorance, without the watchful eye searching for every loss of skill. Case was diagnosed just after the age of 2 by my mother happening to see an episode of Mystery Diagnosis about Hunter Syndrome. While I am incredibly excited and hopeful for families who can be helped by this new law, in our case, I wouldn’t have our story any other way.
Hopefully this new law will give answers to families and arm them to fight, but in some cases, it will also blindside those who think they’ve given birth to a baby as healthy as can be. Don’t get me wrong, I wholeheartedly support newborn screening for MPS. What I hope for, however, is that in connection with the screening, the news of a diagnosis can be offered in the most compassionate and supportive way, helping to direct families with diagnosed newborns to support such as the National MPS Society and nearby families.
For more information on newborn screening for MPS: