2 Ways ER Staff Can Help Rare Disease Patients and Their Parents

Our rare disease warrior has been to his fair share of hospital and emergency room visits. It was our new normal when he was a baby. It was such a frequent occurrence that whenever we would pass by the children’s hospital our oldest son would suggest we stay the night in our pajamas and watch movies.

My heart hurt to hear that.

Many years ago, I had to take my older son to an urgent care one night when he fell down the stairs. It was traumatic, however, I only had to tell them he fell down chasing after his cousins and that he had no extensive medical history.

Pretty cut and dry.

My little rare disease warrior’s recent visit to the trauma center has truly taught me something — an emergency visit is much more different for him.

To help you understand I’ll take you back to the scariest day of my life. When I was busy doing the dishes, Jaxson fell back and hit his head — while sitting in a three-foot-high bar chair. I can remember the screams like it was yesterday; the fear and pain he felt will forever be embedded into my mind.

I was worried about a concussion because of how high he fell back and what his head hit — a corner of a barn-style gate. I quickly called 911 and after what seemed like eternity, the EMS arrived.

As we were sitting in the EMS truck I had to go over his medical history, you know like everyone else. However, once I got to his genetic condition and how susceptible he was to seizures, things started to change. Like an expert in the field, I began to recite every single feature of my son’s rare disease diagnosis – Dyrk1a syndrome.

• Seizures/epilepsy
• Developmental delays
• Intellectual delays
• Eye abnormalities
• Non-verbal

Whatever I could remember amongst the tears. The last thing a scared mother wants to do is explain every feature of a rare disease. Our minds are elsewhere, but that is the life of us parents who care for a child with a rare disease. We have to let the EMS know what condition they have, whether they’re on specific medication for this condition, etc.

Once we reached the trauma center, I had to go over his medical history again with the on-call doctor. You know, because that’s the one thing you want to do when your child is screaming for you. I understand that you can’t blame them; our child’s diagnosis is so rare! But it is still very frustrating.

The nurses would trickle in and ask what the rare disease is, and I’m usually all about educating people about our child’s syndrome. But it’s different when you find yourself in that situation.

The one thing I wish for the emergency team to do differently is to have some sort of way to gather what we tell the EMS staff on the way to the trauma center or emergency room — automatically upload onto a server. That way when the parent comes in with a child with a rare diagnosis, they won’t have to repeat themselves.

My last wish would be for a way for the emergency staff to keep track of what we tell them from prior visits, especially when the child has a rare disease. I can’t remember a time I didn’t have to go over my child’s medical diagnosis!

We sound like broken records when we see the same emergency room 48 hours later and have to repeat everything.

My one recommendation for you to help prevent a headache like this in the future: have an action plan.

I have an accordion folder full with every single lab test, diagnosis result, referrals, IFSPs and a copy of his rare disease condition printed off from Google. I understand how unrealistic it is to carry around a heavy folder like this, especially during a scary moment like handling your child’s first seizure. Look at my situation, I was in hysterics… and I forgot the huge accordion folder.

To make sure you have their information easily accessible, I recommend sending yourself an email with their information, copy their information onto your notes app on your phone, have a medical ID bracelet or keep key information on a medical card that can easily fit into your wallet.

One last option would be to have a few print copies of their condition easily accessible in your child’s diaper bag or your purse.

This will ensure that you will have everything you need for future hospitalizations and emergency room visits.

You’ve got this mama!

What is one thing you wish your emergency room knew about your child’s rare disease?