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I Want People to Know


I’ve thought so often about what I wished people knew about my daughter, and yet, I’ve struggled immensely with finding the right words for this post…

I think I’m going to just dive right in…I’m no Mama Fry, so hang tight as I try to get my point across without putting you to sleep! Ha!

As we near the end of one of the worst cold and flu seasons in decades, I think we can all agree that this season had lots of parents anxious and on edge. It was terrible! It seemed to intensify with each week, and normally healthy children were suffering from serious and sometimes catastrophic complications. For children with rare or complex medical conditions, a flu season like this one can be positively paralyzing.

My daughter has been diagnosed with Hypogammaglobinemia, a fancy word for a type of immune deficiency that causes her to be especially susceptible to viral and bacterial infections. This diagnosis, in and of itself, can present a multitude of problems, especially in school age children. However, my daughter also has a rare metabolic condition, called Carnitine deficiency, which prevents her body from converting fats into energy (the process of fatty acid oxidation-FAOD). And complicates things…a lot.

Without getting too technical let me try to explain what that means…

In our bodies, Carnitine’s job is to act as a “shuttle” to transport fatty acids into the mitochondria- the energy production center of our cells. When there is no “shuttle” available, fatty acids don’t get delivered to the energy center, and thus energy production at the cellular level slows down, or stops. This can then lead to an accumulation of fatty acids in the heart, liver and muscles- after all they have to go somewhere, right?. It can cause severe and sudden hypoglycemia and vomiting. It can cause liver and kidney damage, muscle weakness, cardiomyopathy, encephalopathy, seizures, coma and even death. Heavy stuff, I know.

The treatment for Carnitine deficiency includes taking an oral Carnitine supplement. Every day. For life. It also involves avoiding metabolic stressors such as prolonged exercise, getting overheated, and high fever, as well as avoiding periods of fasting -like overnight and when sick. Eating frequently and staying hydrated is imperative.

Unfortunately, there are times when these precautions just aren’t enough, especially during and after periods of illness. When the metabolic demand becomes too great, vomiting, lethargy, and hypoglycemia can progress rapidly. At this point the only treatment is prompt administration of special IV fluids containing 10% dextrose (sugar) and potassium chloride (known as D10 in the FAOD world), until symptoms subside and the body can stabilize.

What does this all have to do with cold and flu season? Well, for children like my daughter, viruses that cause colds and the flu can be very serious. Because of her immune deficiency she is more susceptible to those viruses, and because of her metabolic condition, those viruses can make her become very sick, very quickly. Every time she gets sick, it has the possibility of landing her in the hospital on IV fluids. I know that might not sound like a big deal but…

Imagine your child has been hospitalized so many times the doctors and nurses in the pediatric ER and on the pediatric hospital floor remember your child and her diagnosis, and how to contact her specialists.

Imagine living with a hospital bag packed and ready to go- at all times; making sure the binder of your child’s medical information (diagnosis, lab orders, protocol letter) is always in the car in case of an emergency.

Imagine your child being hospitalized 4 times, for a total of 12 days, in just one year.

Imagine watching as nurse after nurse attempt to re-start a compromised IV, because the fluids its delivering are critical for survival. And they have a “2 stick” rule…

Just try to imagine what that would be like, if that were your child…

I’ve watched a pediatric intensive care nurse leave my daughter’s hospital room on the verge of tears after her failed attempts at re-starting an IV. She was the best, they said. The 4th nurse to attempt that night.

I’ve held my daughter’s tiny little hand still, in the middle of the night, as fluids were pushed through an open needle used to take blood, because they had run out of nurses, and spots on her body to attempt IVs.

I’ve watched as she slept for 22 hours a day, and viral infections progressed to bacterial. And watched as portable x-rays were wheeled into her room because she was too sick to be moved.

I’ve held her hair back and wiped her sweet face as she continued to throw up despite the IV Zofran she’d been given.

I’ve watched as her little fingers are pricked every 15 minutes after a sugar drop, and 3 times a day during vitals.

I’ve had to plead for the delay of NG tubes and PICC lines while I begged and bargained with her to eat something, anything. I’ve purchased every fluid she might, maybe, possibly, try, in hopes of convincing her to drink. See, our daughter is also on the autism spectrum, so flexibility and trying new things doesn’t come easy on a good day, let alone a sick day!

The thing is… if you met my daughter on a good day, she looks like a healthy, spunky, 5-year-old little girl. You would probably never guess she’s had more IVs and blood draws that she (or I) can count. Or that she had her first sedated MRI at 3 months old, followed by surgery at 4 months old. You’d never know that because of this surgery, she can’t have Motrin to reduce her fever when she gets sick. And you’d probably never guess she has an immune deficiency or a metabolic condition. But she does.

We are incredibly lucky to have a wonderful support system with understanding, sympathetic employers. We are lucky that she has excellent specialists who oversee her care when she is hospitalized, and that she has been able to overcome her metabolic episodes with little to no lasting damage. We hope this trend continues and that as she gets older, her body will be able to handle bouts of illness better. But only time will tell.

So, what’s the bottom line? What do I want people to know about my daughter; about living with a child who is medically complex or fragile during cold and flu season?

I want people to know that just because my daughter doesn’t “look sick” on a good day, doesn’t mean she isn’t extra susceptible to becoming sick.

I want people to understand why we are overly cautious when other children show any signs of illness. Why we ask people not to come to our house if they, or their children are or have recently been sick. Why we’ve been told by our daughter’s immunologist to take her out of pre-K for the year while we evaluate our options. And why we’ve become masters of quarantine.

I want people to understand that something as simple as a virus that causes cold symptoms can, and has, put my child in the hospital. I can’t even begin to think about what something like this year’s flu could do to her. I want people to understand, that any viral or bacterial infection, any time of year, ultimately has the potential of becoming life-threatening for my child. And I want people to understand we live with that fear. Every. Single. Day. I can hear a child coughing from 30 yards away! It might actually be my superpower! Haha! I’m kidding…it’s probably more like 15 yards! ;-) But seriously, the anxiety can be overwhelming.

I want people to understand that I’m not overreacting, or being a germaphobe, or a helicopter parent. I’m just trying to keep my daughter healthy. Her life, quite literally, depends on it.

For more information on primary immune deficiency:

https://primaryimmune.org/about-primary-immunodeficiencies

For more information on Carnitine Deficiency:

https://www.fodsupport.org/list.htm

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