I think about all the unnecessary health issues I faced as well as all the unnecessary health issues that could, and most likely do, occur to babies born to nutritionally deficient moms of undiagnosed celiac (I'm assuming and would guess. Remember, I'm not a doctor, nor do I play one on TV).
WHY is testing not done routinely?! I ask this all-the-time.
Of course, I hear things like: cost, insurance, cost, insurance.
Silly me, I see the cost of being sick (for YEARS) much higher than that of the testing, but that's just me.
So now let's fast forward to 26 years after my last child was born to the birth of my most recent grandchild (in 2015). We were 'privileged' to discover the number of newborn screenings that are conducted!
*Special Note: I'm not saying----nor do I believe---that screening for celiac is appropriate for newborns (unless it's genetic testing) since they wouldn't yet be consuming gluten.
But we have kids with obvious symptoms not getting tested---its a big thorn in my side!
Since being diagnosed with celiac disease, almost fifteen years ago, and since discovering that celiac actually affects nearly 1% of us--I've been an advocate for routine testing. Of course, when I pose this question, "why aren't we testing everyone?" the answer is always "money." hmmmm Of course, if we compare the cost of a lifetime of illness to the cost of the test and then a lifetime of health, I'm thinking the cost weighs heavier on the forty years of illness, but I'm not an "expert."
But now, with eyes open more widely, I'm even more upset with the lack of routine testing than I was before. Cost? Is that really the reason? C'mon..... Here's why I ask:
My grandson was born in March. LOVE-this-boy! The love we feel for our children and our grandchildren is so much it hurts--and when there's a problem (or potential problem) we can lose focus of anything else going on in the world at the moment. During a follow up visit to the pediatrician that first week after he was born, my daughter was told my grandson's newborn screenings suggested that he could have a fatty acid oxidation disorder. She was told NOT to let him go more than four hours without a feeding--preferably no longer than three hours. And almost in the same breath as "DON'T let him go more than four hours without a feeding" she was told, "But don't worry about it, he probably doesn't have it." What? NOT worry? She was then sent to a children's hospital for genetic testing.
And then, there at the hospital, the doctor conducting the testing emphasized, "Actually, don't let him go more than two or three hours without a feeding." And again, "But don't let it stress you out as he probably doesn't have it." What?! "Oh, and by the way, the results won't be in for two to three weeks." What?! Apparently IF he had this disorder, it could cause his blood sugar to plummet (resulting in him not waking up)--and many other major health concerns. For those who DO have this, knowing it is life saving. So yes, this screening is important.
This poor new mom (my daughter) had to set her alarm every two hours. She was doing a pretty good job at not letting herself get too stressed out about it, (outwardly, anyway) as this is a rare disorder, with most positive screenings being false positive. But how does a person not think about it? It was a sliver under the nail--and she was getting even worse sleep than many new mommies. As soon as the baby was done nursing, she'd set her alarm for two hours. And when it went off, she first had to struggle to wake herself up, then him, and then encourage him to eat even if he wasn't ready, hoping he would go right back to sleep and hoping she could go right back to sleep since her alarm would be waking her in another two hours. Thankfully, the results didn't take three weeks--or even two weeks. My daughter got the call one week after the blood sample was taken for the genetic testing. Negative. "Let him sleep," she was told. Heavy sigh of relief all around.
So, through this, I discovered that newborns (in Illinois) are screened for over 58 conditions. 58!! According to the Illinois Department of Public Health: "Early detection, diagnosis and treatment of these conditions can prevent death or disability and enable children to reach their full potential."
Many of these conditions are rare, but vital for those detected:
Fatty Acid Oxidation Disorder--1:40,000
So, if we are screening to save and improve lives, how about adding the most common genetic autoimmune disorder? Look at this study released by the NIH in 2003, where we got the 1:133 stats for celiac disease. If you read this study, however, you will see that celiac affects way more than 1:133. One out of every 133 "not at risk" have celiac. The numbers go WAY up for anyone in an "at risk" category. (and there are many "at risk" factors.)
Of course, we know that we can have the gene for celiac but not develop it--or we may develop it at any age: 2, 12, 40 or 72. But wouldn't it be good to know when we have the potential in order to be able to be aware of the signs and symptoms? It could prevent those of us who suffered a lifetime, and the many who continue to suffer symptoms without answers. Over 80% with celiac remain undiagnosed! And with this lack of diagnosis comes lack of treatment (a gluten free diet) and lack of health. Here's just a sample of what families continue to endure because of lack of testing. SO avoidable!
Of course, naturally, sometimes these tests and screenings add undue stress and anxiety, as my family discovered during those first weeks after my grandson was born. It is one thing when you understand something, and something completely different when you don't. For a new mom who has never heard of celiac to be told, "Your child has the gene for celiac disease; you will need to watch for him to possibly develop: weight loss, an inability to grow or gain weight, severe stomachaches, diarrhea, constipation, tooth problems," and on and on, (with a list of hundreds of possible symptoms)--yes, this can be frightening. Add, "He might need a very strict gluten free diet for life." For anyone who has never heard of this disease and who googles it as I did with fatty acid oxidation disorder, this would be just as frightening as it was for us with my grandson.
Of course, I understand celiac, and I have seen and heard over and over and over, stories of children who have gotten so extremely ill due to lack of testing and a proper gluten free diet. I know the impact of gluten on someone with celiac. I know how relatively 'simple' it is to eat gluten free. And I know the huge increase in health and quality of life. This testing NEEDS TO BE ROUTINE!! This is a disease that affects close to 1% of the population! Not 1:40,000. Not 1:10,000. Not 1:1,000. 1:100! This is HUGE! (and even more have NCGS--NonCeliac Gluten Sensitivity)
Learn more about Newborn Screenings (from the CDC)
Blood tests vary state-to-state
Find out what your state screens for HERE.
Screening and testing for celiac disease is NOT routine--yet (at least not yet in the US). When (not if, but when) it is routine, I don't know what the appropriate age is?--genetic newborn testing? celiac testing once gluten is introduced? Age 2? Age 5? But it needs to happen (or at least recognized and tested for when symptoms begin or when a family member tests positive). And until it does, we work on education. For family members of those of us diagnosed, we encourage periodic testing. For those with symptoms, we encourage (and sometimes have to push for) testing. But------
Signs and Symptoms?--What are those? Testing won't happen unless doctors understand celiac signs and symptoms and recognize it as a possible reason for the symptoms being seen---and with the fact that symptoms can vary greatly from person to person, there isn't a basic set of symptoms to look for. Here's a great infogram I love to share. Thank you Gluten Dude. This should be hanging in every doctor's office and behind the door of every public bathroom stall.