I mentioned that there were a lot of presentations at the NBSGTS meeting and I would be remiss to not mention at least some of them here because one of the most touching things about the entire conference was the passion of the presenters. It was evident that babies and families are at the very heart of everything that they are doing - the research, the quality indicators, the treatment trials, everything! There is an army of people out there who are working day-in and day-out to find these conditions before children become symptomatic so that they are never in harm's way. These same people are also working tirelessly to track these children to ensure that they are getting appropriate follow-up care throughout their lives so that they can stay healthy and asymptomatic and therefore, safe. It was such an incredible comfort to me to know that so many people care so deeply about this topic and about the babies and families that are affected. We, as families of those impacted by newborn screening, are certainly not alone.
Since I went to about a gazillion presentations, I won't mention all of them here (at least not right away!), but here are some of the highlights of a few presentations that made a big impact on me. I'll post more in the weeks to come and I'll hopefully also be hunting down some of the journal articles that go into greater detail than the presentations did.
Quality Indicators for Newborn Screening Programs - How do states know how well their newborn screening program is doing and how they stack up against other newborn screening programs across the country and around the world? They have quality indicators! There are 8 main indicators that describe a quality newborn screening program including things like the percentage of newborn screening cards that arrive at the lab and are deemed invalid (due to issues with collection/saturation and/or transport), the number of cards that arrive which are missing essential information, the time it takes cards to get from the hospital to the lab, the time it takes for the lab to process screening cards and the time it takes for labs to initiate follow-up with individuals who screen positive, etc.
This presentation was particularly poignant for me because it just so happens that the state where we used to live (we moved when we were pregnant) had one of the highest rates of invalid specimens. It was glaringly high (17%) compared to practically all other states (1-4%) in the study. When specimens are invalid, it means that the newborn screening cannot take place until a new card is properly collected from that infant. This can slow down the process by several days and could mean the difference between life and death for kids with metabolic disorders. I'm thankful that LB's screening was done right the first time and that we had information about how to keep him safe when he was three days old, never allowing him to be in danger from fasting.
MCADD and Newborn Screening in Japan - MCADD is the most common fatty acid oxidation disorder in Japan and is detected at a rate of 1:110,000 individuals. They did a study on infants born between 1997 and 2012 and found 18 cases of MCADD. Of those 18 cases, 8 of the children were discovered through newborn screening programs before they became symptomatic and the other 10 were discovered clinically once they became symptomatic (i.e. they were not discovered through the screening program). The age at onset for the symptomatic group was under 2 years old and hypoglycemia (low blood sugar) was observed in all 10 cases while hyperammonemia (metabolic crisis) was observed in half of those cases. For this symptomatic group, 8 out of 10 children exhibited some form of developmental delay, 1 child was deceased and 1 child displayed normal development. For the asymptomatic group discovered through newborn screening 100% of children were exhibiting normal development.
This presentation underscored the importance of finding children with metabolic disorders like MCADD early so that they can avoid episodes of metabolic crisis and live healthy, normal lives. I'm thankful again that we know about LB's condition and that we found out about it early, before he had any symptoms that could have had a detrimental affect on his development. He is perfectly healthy thanks to early intervention through newborn screening.
New Cystic Fibrosis Therapies - I know Cystic Fibrosis (CF) isn't a metabolic disorder, but it IS a disorder detected by newborn screening and this presentation made me jump for joy. CF has an incidence rate of 1:3500 births (much more prevalent than MCADD) and there are currently about 35,000 people living with CF in the United States. CF is a progressive lung disease and currently has a median predicted survival age of 37 years, while the median age at death is 26 years. These statistics may seem grim, but only a decade ago, you could probably shave a decade off each of these numbers. They are definitely going in the right direction. One of the reasons for this is all of the new therapies that are being developed. For example, there is currently a drug that is hitting a home run for CF patients with a particular gene mutation. In four years on the drug, all of the patients saw a sustained and remarkable increase in lung function. A similar drug is currently undergoing trials and is VERY exciting because this drug would target the gene mutation that causes 80-90% of CF cases. So far, it looks like this drug will also be a home run.
Wouldn't it be awesome if drug therapies like this could improve the lives of 95% of people with CF? Maybe even 100% if they can figure out how to treat the remaining genetic cause of CF that impacts that final 5% of CF cases? It is exciting to think about what those median survival ages might be only a decade from now! These kids could be living well into adulthood, maybe even into retirement! I'm amazed and grateful at what the scientific community has come up with here. What a blessing for all of the CF families out there!
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