Orchid offers advanced genetic testing for couples who want their child to have the best shot of a healthy life. “Patient and Family Stories” is where we highlight families who have been impacted by chronic conditions Orchid screens for and their perspectives on genetic screening.
A lingering hunch
While a Type 1 Diabetes (T1D) diagnosis comes out of the blue for many families, Chelsea’s husband, Lincoln, has firsthand experience. He was diagnosed when he was two and has managed T1D over the past 28 years.
In the early 90s, Lincoln’s pediatrician told Lincoln’s parents that “T1D had no real genetic component and that it was just random.” However, his brother also ended up having a T1D diagnosis, the second out of eight siblings.
Before having her two sons, Chelsea remembers having a conversation with her husband, wondering, “what are the odds that any of our children get T1D?” With no ability to quantify their potential genetic risks, they acknowledged that the risk was likely higher than the general population but still “pretty low.”
“Fast forward a few years after our marriage, we had our first child, and symptoms started showing up in our son,” Chelsea said.
Seeing the first signs
When Henry was 20 months old, he started peeing through his diapers, waking himself up in the middle of the night. Chelsea would find his pajamas and sheets soaked through. She tried changing diaper brands to no avail. They knew excessive urination also happens to babies without diabetes. Given he had no other symptoms, they decided to hold off testing his glucose levels.
Two weeks later, Henry started drinking a lot of water. One time while they were at a restaurant, Henry drank an entire CamelBak water bottle during the time it took Chelsea to finish ordering. The following day, Lincoln decided to use his glucose finger prick test on their son Henry. Chelsea was at a baby shower when she received a call from her husband. Henry’s glucose levels were “too high to even register a number.”
“I went out to my car and called my mom. I lost it… A tiny part of me hoped it was something else, but deep down, I knew it was ‘for real,’” said Chelsea.
The first couple of days were the hardest for Chelsea to process the diagnosis. She recalled during this time thinking thoughts such as, “‘Oh my baby is broken, he’s got this thing that’s wrong with him.”
It was conflicting for her as a mom — she wanted to be strong and positive for her son to make him feel less afraid but had difficulty processing the sadness of giving him insulin shots for the rest of his life. “The first time I gave him a shot, I cried. But I didn’t want to cry while I was doing it because I didn’t want him to feel more scared or think that I was terrified,” recalled Chelsea.
Reframing and learning to thrive
The silver lining for Chelsea’s family was that they were equipped with the financial and medical resources to support Henry’s T1D diagnosis from the start. During the first weekend, Henry was able to stay home instead of being rushed to the hospital — with over the phone support from healthcare providers, Chelsea and Lincoln administered doses of Lincoln’s supply of long-acting insulin to Henry, while testing and monitoring his glucose levels every two hours or so. They were able to bring his blood sugars to a safe range over the weekend, and on Monday proceeded to meet with an endocrinologist and team of healthcare providers to make a treatment plan for Henry. The family’s prior experience with T1D and the required care made this transition easier than it would have been otherwise.
Seeing her husband over the years proactively managing his T1D diagnosis also assured Chelsea that her son could also live a fulfilling and active life. Lincoln leads by example, normalizing his experiences that having T1D does not need to define or limit one’s abilities. “We explain to Henry very matter-of-factly about his condition. Just as I wear contacts because my eyes don’t work as well, the shots we give him help his body process sugar which acts in place of his pancreas. But that doesn’t make him any less able than his peers,” said Chelsea.
Chelsea acknowledges that their diagnosis experience was “definitely on the easier end of the spectrum” and that other families impacted by T1D may not be so lucky. Since the early symptoms of T1D are so vague, many parents mistake it for being a flu or stomach bug. Left undiagnosed and untreated, individuals can develop serious life-threatening conditions such as diabetic ketoacidosis and require several days of hospitalization.
About their ability to catch it early for their son, Chelsea said: “lots of parents think it’s nothing, but their child is fighting to live, and their body is shutting down. I was really grateful we didn’t end up getting anywhere close to that point with Henry.”
A lifelong reality
Even as Chelsea has adjusted to their new normal of having two type 1 diabetics in the house, it still requires constant vigilance. “As a parent you never stop thinking about it and you don’t just get to check out… Henry does have extra needs because he has diabetes. We’re up with him in the night still sometimes. It’s like having a baby, forever, and I don’t know if I’ll ever get consistent and regular full nights of sleep.”
Henry is now five years old, coming close to his three-year “diaversary” (diabetes diagnosis anniversary day). Today, Chelsea gives Henry between 7 to 10 insulin shots a day. They recently got him a continuous glucose monitor (CGM), which helps her get real-time updates instead of guessing and checking. They’re planning on transitioning to an insulin pump as Henry enters kindergarten to make it easier to administer insulin while he’s at school. She still worries about Henry not being accepted by his peers or having an extreme low when she’s not around, but having a good level of control helps abate those fears.
Chelsea’s younger son, Myer, is two years old — around the age Henry was when he was diagnosed. They’re keeping a close eye on him for any early signs. “There’s a part of me that’s like, ‘Myer’s just a ticking time bomb.’ There’s a chance he won’t get [T1D], but I’m not counting on it. If he were diagnosed, we’d for sure be done [with having more kids] because that’s two for two,” said Chelsea.
Genetic screening for future families
Chelsea is using her social media platform to help educate parents about the early signs and symptoms of diabetes: “the more people know, the more people can be aware of and know what could be happening.”
When talking about the future opportunity for prospective parents to see how their genetics can impact their future child’s health, Chelsea believes that it could be beneficial: “if you want to go in more prepared, more information can be a really good thing.”
Similar to how there is now a screening blood test to detect T1D autoantibodies before symptoms occur, measuring genetic predispositions to conditions like Type 1 Diabetes can help families better plan and prepare. “If parents know their kids can be at higher risk, they can research deeper, prevent hospitalizations by knowing the signs and symptoms, and make lifestyle changes. That can be a valuable resource for lots of parents,” said Chelsea.