I was diagnosed with Type 1 diabetes when I was 10 years old. No one in my family had ever been diagnosed with an autoimmune disease, and my parents could not have foreseen that their little girl would end up comatose in an emergency room with blood glucose levels 10 times the normal level. But what if there had been a way for my parents to know I was at risk for Type 1 diabetes? Would they have been overcome with worry? Would they have parented differently?
Twenty years after my diabetes diagnosis I gave birth to the first of my two children. Curiosity about my kids’ futures with potential autoimmune diseases came along with the packages of diapers, but we agreed early on that we were not going to succumb to fear or worry. My husband and I have always felt that we’d be well-equipped to face diabetes if it came our way. Many parents I know with diabetes themselves, or who have one child with diabetes, occasionally check the blood sugar level of a particularly thirsty non-diabetic toddler or a seems-sleepier-than-usual non-diabetic sibling. But there is no palm reading for as-of-yet unpricked fingers. I can’t sit around worrying for what may or may not happen. I am sure I will see the symptoms if they appear. I’m sure I’m equipped to handle a diagnosis. Why put myself or my kid through unnecessary worry, stress, or pain?
Unless something might be done to catch it earlier. That’s where TrialNet, an international network of researchers who are exploring ways to prevent, delay and reverse the progression of Type 1 diabetes, comes in. I remember over 20 years ago when a researcher came into my hospital room and offered to screen my older brother for Type 1 diabetes. He was 16 and decided that he didn’t want to be screened and didn’t want to know. I respected his decision. For my own children, however, I wanted to at least look into what tests TrialNet offers. At a diabetes health fair event I attended in 2011, the woman working at a TrialNet table told me that, while I could screen any child over age 1, it didn’t necessarily make sense to screen my then 20 month old until she was old enough to cooperate with the second phase of the trial if she were found to have antibodies, the markers for Type 1 diabetes. Okay, then. I left it there.
I expressed this sentiment of “not worth it to screen right now” to Lorraine Stiehl, my colleague on the board of Diabetes Hands Foundation, who has worked in recruitment for clinical trials and has done a great deal of advocacy with JDRF, and to Adam Kaufman, a diabetes advocate whose mother, Francine Kaufman, is renowned for her work in pediatric endocrinology and as Chief Medical Officer of Medtronic. They both nearly fell out of their chairs. Adam contacted Dr. Kaufman right there in my presence to ask her opinion of screening my then toddler and infant. They spoke of the potential drug trials my family would be eligible to enroll in, and of the hope that Type 1 markers identified early enough could slow its aggressive progression.
In short, they convinced me that I was failing to see the potential for what TrialNet could do for people identified as having autoantibodies for Type 1. By the time most patients are diagnosed, they have lost up to 80% of their beta cell function. TrialNet can identify those at-risk before diabetes symptoms ever appear, document the progression of the disease for research, and, most impressively, enroll people in as many as three trials for which they might be eligible.
In 2013, knowing we would be attending the Children with Diabetes Friends for Life Annual Conference where TrialNet screening would be available I signed the kids up. They were ages 17 months and 3.5 years at the time of screening.
Additionally, Dr. Alessio Fasano’s team from the Center for Celiac Research at Massachusetts General Hospital would be on site offering the opportunity to screen for celiac antibodies and celiac genetic markers. All with one blood draw. One poke per kid? Let’s do this!
I think back to that decision nearly everyday.
It turns out that my children are currently in the clear for all five of the Type 1 antibodies for which TrialNet screens. Neither of them showed evidence of the early markers for Type 1 and I can have them retested annually until they are 18. This does not guarantee that they will not develop Type 1 diabetes, but it means their risk is currently quite low.
But for celiac, that was not the case. Although my daughter had no significant symptoms of celiac – she was growing strong, 91st percentile for weight and height, no failure to thrive, occasional constipation, but no diarrhea – she tested positive for celiac tTG IgA antibodies. The Center for Celiac Research directed us to seek out a pediatric gastroenterologist to confirm her diagnosis. My daughter’s tTG IgA antibodies were 12 times the normal range. An upper endoscopy with biopsy performed two months after screening showed moderate damage to four of the five sampled areas in her esophagus, stomach, and small intestines. In my precious 3 year old, an autoimmune disease was already ravaging her intestines and stomach.
I had no idea.
We are now seven months since my daughter’s diagnosis and seven months into a gluten free diet. I now understand that her constipation issues were not from a toddler who got too much milk and not enough fiber, but from a child whose small intestine was constantly fighting off an immune system as confused and aggressive as my own.
My endocrinologist and I discussed how, by catching it early… maybe, just maybe… we might have halted an aggressive autoimmune response that could have brought on Type 1. I imagine, based on research I’m reading about celiac and Type 1 diabetes onset, that I will know in the next 8-10 years. And that’s where TrialNet will play their annual role for me.
Diabetes was on my radar. Celiac wasn’t. My husband credits my decision to screen with a very early diagnosis. The nurses at my daughter’s endoscopy told us that most kids they see suffering the effects of celiac are middle-school aged before their complaints lead to a diagnosis. 6-10 years is the average length of time a patient suffers with celiac before it is diagnosed in the USA and it is a notoriously underdiagnosed condition. As May is Celiac Awareness Month I encourage you to find out if you may be at risk.
Through a winding road of screening opportunities, we’ve also discovered that my baby boy – now 26 months old – is IgA deficient. Selective IgA deficiency is a condition wherein a person does not produce a detectable amount of Immunoglobulin A (IgA) antibodies. In my son’s case, this means that a simple celiac tTG IgA screening would actually prove inconclusive due to the fact that he doesn’t produce a normal amount of this autoantibody in the first place. His future with autoimmune disease is uncertain, too, in that regard, with an increased risk of autoimmune disease occurring in people who are naturally IgA deficient.
With that being said, I understand all too well the concern that screening could mean that you would find out information you could not act on. If you were to discover your child produces one or more of the five antibodies associated with Type 1, and therefore had an increased risk of developing Type 1 over an unnamed number of years, you might decide that you don’t want to nervously wait for the other shoe to drop.
But for me? I type this in tears. I caught one shoe. It’s preschool-sized and I might have missed the soft thud as it was falling. It’s our good fortune that we tried to divine the future after all.
If you have a relative with Type 1 Diabetes, you are 15 times more likely to develop it. Visit http://www.pathway2prevention.org/ to find out how you and your family can be screened. Your relatives may be eligible to join one of three prevention trials.
To learn more about Celiac Disease and find out what screening tests you can ask your physician for, visit http://www.celiaccentral.org/celiac-disease/facts-and-figures/ or http://www.celiac.org.
Melissa Lee writes the blog Sweetly Voiced.