To Parents Who Feel Overwhelmed by the Care for Their Newly Diagnosed Child

After the shock doesn’t wear off but lowers to a duller throb. After the tears slow a bit. After a nurse tries to educate you on medical techniques you feel in no way qualified to perform. After you’re alone with your child again. Around that time, you’ll begin to think there’s no way you can handle all this. You probably won’t even have a clear idea what “this” amounts to.

Daniel DeFabio.1-001

At least that’s how it felt for my wife and me. In the hospital with our son, Lucas, who has Menkes disease, a nurse spent three or four minutes showing me how to operate a food pump and was ready to leave. “It’s really simple,” she said. Not to me. I’d like to think I’m smarter than the average bear, but this was alien terrain — some beeping medical device for our home. Plus, my head was still panicked and reeling with grief, fear and guilt. This mini-machine is now our only way to feed our child. If I get this wrong, do we rush to a hospital?

With the hindsight of having used his food pump three times a day every day for five years, it no longer feels intimidating or even out of the ordinary. Neither do the shots or the catheters. In fact, if I were to show you how to use them, I might even be guilty of telling you, “It’s really simple.”

The food pump is just one example. Each child is different with different complications. You may find your schedule more or less crowded with care needs. It may become routine, but it will rarely be easy. For your child’s care, it might mean learning how to give IV shots, use suction machines, respond to  seizures — the care you now think of as LPN- or RN-level care. You’re going to master these skills. It seems scary now. But you’ll do it. You’ll do it because someone has to. And you’ll get very good at it.

To give you an idea of the kind of care you might experience, I’ll share my son’s daily routine. This is a typical day. I’m not listing everything to complain. I know there are many out there who have more challenging routines. Some with medically fragile kids will look at our schedule and say, “What about at night? The overnight? You don’t need to do any care overnight?” We don’t. Not since he was 9 months old. One of our blessings is Lucas sleeps a 12-hour night. We’ve learned it’s pointless to compare our son either with neurotypical kids or even with others with his same genetic disorder. 

7 a.m.

• Wake Lucas.

• Remove overnight Foley catheter. Empty 800-1000 ml of urine from bag. Rinse bag.

• Disconnect overnight feeding tube. Rinse out bag.

• Change diaper.

• Dress Lucas and apply deodorant.

• Transfer Lucas to wheelchair.

• Three morning meds (one must be mixed from powder) through tube followed by water flush.

10 a.m.

• Use straight catheter to empty likely 100-200 ml of urine. Clean equipment.

11 a.m.

• Flush of water (about 150 ml). Load food bag to 150 ml of formula. Start feed at 120 ml/hr.

12:30 p.m.

• Turn off food pump, disconnect feeding bag, clean attachment and discard bag. Flush of water.

1 p.m.

• Use straight catheter to empty likely 100-200 ml of urine. Clean equipment.

3 p.m.

• Mix anti-reflux meds from tablet, followed by a flush of water (about 150 ml).

• Load new food bag to 150 ml of formula. Start feed at 120 ml/hr.

4 p.m.

• Use straight catheter to empty likely 100-200 ml of urine. Clean equipment.

4:30 p.m.

• Turn off food pump, disconnect feeding bag, clean attachment and rinse bag. Flush of water.

• Three evening meds (one must be mixed from powder) through tube followed by water flush.

5 p.m.

• Diaper, bathe Lucas and load overnight food bag with 800 ml of formula.

6:30 p.m.

• Prepare for bed. 

• Dress in PJs, carry to bed, attach catheter to bag and attach overnight feed.

7 a.m.

• Repeat.

Note: Each time my son gets meds, water or food, he needs to be in his wheelchair.

He’s at school from 8:30 a.m. to 3:15 p.m., so the school nurse handles the 10 a.m.-1 p.m. items. We also have a home nurse on school days, so she handles the 3 p.m.-5 p.m. routine.

If we want to add physical therapy, communications skills, swim therapy or just some playtime with Lucas, you can imagine how challenging it can be to squeeze it into the schedule above. A few things can be done simultaneously while he eats so that helps.

Not scheduled but needed throughout the day:

• Vent the air from his port (his version of burping).

• Wipe the drool from his chin (frequently).

• Diapers as needed.

We’ve come to regard a typical day as a good day. You’ll get used to them. It’s the days with a glitch that throw us off. He gets sent home from school due to a fever, the unanticipated rush to see a specialist or even a truly mundane glitch like a light bulb burning out and there’s no replacement handy. It can be the straw that breaks the camel’s back. Don’t I have enough to deal with? Now I have to run to the store?!

Because as much as I might think I’ve got the routine down and can handle it, it does mean I’m running at nearly full-load capacity. All. The. Time. Add one tiny thing to the load, and all of a sudden, I’ll feel the full weight again.

You’re probably wondering how you can do it all and how you will manage. You can do it — but probably not without help. Find out who can help you: a family member, a neighbor or home nursing. Because even when you’ve mastered the routine, the “unroutine” can throw a wrench in things that are one step beyond what you can do alone.   

Learn more about a day in our life in the video below:

The Mighty is asking the following: What’s one thing people might not know about your experience with disability and/or disease, and what would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Share Your Story page for more about our submission guidelines.

Find this story helpful? Share it with someone you care about.

Related to Menkes Disease

young boy smiling

When the Last Best Hope in Your Rare Disease Journey Lets You Down

Last week I was at the Global Genes conference for advocates of rare diseases. Hope was not only a theme or a tagline there, it percolated through even the most dire discussions of the roads ahead. For many facing a rare diagnosis, the road to hope (of treatment or a cure) goes a bit like [...]

The Film I Almost Couldn’t Make About My Son’s Disease

My son, Lucas, has Menkes disease. Never heard of it? Not many have. We didn’t until his diagnosis came. Lucas’ diagnosis came too late. If Menkes is detected in the first 10 days of life and treated, you can live a pretty normal, long life. If not, you get a much shorter life that’s far from [...]

A Panera Bread Employee's Simple Remark Turned Our Dark Day Around

This is the story of how someone we didn’t know turned one of our toughest times into one of our best days. When you have a child with Menkes disease, you spend more time than you’d like in the hospital. At its best it’s stressful; at its worst, I’m ready to bark at people for [...]
Daniel's son smiling

How Parenting a Dying Child Changed All My Expectations

When we had a child on the way, we said we were expecting. What we expected was a healthy, happy, “normal” baby. When our child was born, we never really stopped expecting. We expected him to crawl, walk, talk, do well in school, get a good job, find a nice spouse, bring us grandchildren, perhaps care [...]