Triumphing over adversity: How I battle my daughter’s rare genetic disease

0

I was in a sleep-deprived haze, similar to all first-time mothers who bring their newborns home, when I received the call from my daughter’s pediatrician stating, “something popped up on her newborn screening test and a genetic counselor would be following up with me within the next few days.”

I hung up the phone puzzled as to what could possibly be wrong with my little bundle of pink perfection. Fifteen minutes later my phone rang, and it was explained to me that one of my daughter’s newborn-screening markers, specifically her long chain fats, was slightly off. I was assured that it was probably a false positive — the stated cutoff was .09 units of measure and hers was .0913.

After a blood draw and expedited testing, we found out we had won the rare genetic disease lottery— our daughter had CPT2, a long chain fatty acid deficiency that didn’t allow her body to convert fat into energy properly and solely relied on glucose to function properly.

Yeah, I didn’t know what that meant either. Especially while still in my sleep-deprived haze.

We were one of the lucky ones, our daughter inherited the S113L, the “mild” version of the disease — the other two phenotypes of CPT2 were almost always fatal. This “mild” version, we were told, could be easily controlled by diet and avoiding fasting. How hard could that be, right?!

Until my brain quickly jumped to questions like “how is she supposed to sleep through the night? What if she gets a stomach bug and keeps throwing up? What if she’s a picky eater and refuses to eat just so she can assert herself like a normal a 3-year-old?”

Eight years later, I’m still learning “hard” was an understatement.

The easy part was limiting her diet to 15 grams of fat/1000 calories/day; the easy part was at 13 months mixing raw cornstarch into her applesauce to help maintain her glucose up to 12 hours allowing her to get a full night’s sleep; the easy part was substituting medium chain fats via a special oil into her food vs. the long chain fats her body couldn’t metabolize (such as canola oil, vegetable oil, olive oil).

The hard part was keeping her healthy; I was fortunate as she did not get her first cold until 10 months because of my continued nursing efforts and being with my mother during the day.

At 18 months, however, she wasn’t gaining the weight the doctors wanted her to, as she just wasn’t that “into” food; she always preferred breast milk. I was told it was fairly common and some kids were just not “eaters”; however while normal children could be left to continue their “rabbit grazings” as her doctors called it, my daughter couldn’t. It could be catastrophic for her and their recommendation was to put a feeding tube into her stomach to feed her continuously through that.

My reaction was a quick and swift “over my dead body; I’ll chase her with a banana if I have to.’  And that’s what I did; I quit a lucrative career in finance and literally chased my daughter around every playground in town with food. I got her into the 50th percentile of weight after a few years and I was a proud mama; I did my job and I did it well!

Then preschool started; or in other words, the illnesses started.

So what, you’re thinking, right? Kids always get sick, it’s normal. But remember the fasting thing from before? How many of us want to eat when we have a 102 fever? All we want to do is sleep and rest. Except, children like my daughter can’t do that; if they fast for extended periods of time, they are in danger of slipping into a hypoglycemic coma and going into organ failure. Either you get them to drink a certain set amount of sugary drinks or bring them to a hospital for an IV of dextrose until their biochemical levels stabilize.

So every time she gets sick, her sugar and calorie consumption has to be maintained. At times of severe illness, such as fever viruses, I pipet ginger ale into her cheek every few hours while she sleeps with a syringe to avoid waking her, yet giving her the necessary sugars to maintain her glucose through the night to avoid a metabolic crisis and hence, a hospital stay.

The acts themselves are exhausting. The anxiety and fear that accompanies them are indescribable. As she has gotten older, it has become quite easier. Or maybe we just have become used to it.

My life is filled with a constant “what if’s?”

What if we take that Disney Cruise and a GI virus breaks out? What if her classmate is infected with the hand-foot-mouth virus his little sister just had and isn’t exhibiting symptoms yet and sits next to my daughter at lunchtime? What if the table we were just seated for dinner it wasn’t properly cleaned and the live flu is still lingering around right where my daughter is to be seated?

We wouldn’t have to be always asking those what if’s if magically, her “S” and “L” amino acids were switched as they should be on marker 113 on chromosome 1.

The answer is SO easy; how to get there is extremely convoluted. It is estimated that between 300-800 people in the world have CPT2.

CPT2 has now been added to the long list of Jewish Genetic Diseases that parents can be screened for. I would have given anything to have had this available to me back when I was pregnant so I would have at least been emotionally prepared for what was ahead of me.

The good news is, CPT2 doesn’t keep us from celebrating life, it just challenges us to be vigilant while we do. L’chaim.

The Jewish Chick
What started as a fun distraction grew to be a passion project for Liora Rez; but her career did not start in the social media industry. After a decade of working in structured finance, her life changed as she became a stay at home mom; Liora was unable to just sit still and needed a connection to the outside world. Her hobby has grown today to one of the largest Jewish social media accounts and features her passions of fashion, her unapologetic support of Israel, her relationship with Judaism, and her amazing family. Liora uses her continuously growing platform to collaborate with brands and organizations from both the Jewish and Fashion worlds. Her social media pages leads by example that you never have to be just one type of person, and showcasing all of your passions together can create a unique story.