7 Things I Wish I Knew About My Son's Rare Disease Before His Diagnosis

Having a primary immunodeficiency isn’t the only diagnosis my son may ever have, but it can be the root of all of the other diagnoses: adrenal insufficiency, Crohn’s disease or inflammatory bowel disease (IBD), psoriasis, rheumatoid arthritis, brittle bones, chronic dental issues, hearing loss, high cholesterol, liver issues and heart issues. There are many additional illnesses that go hand in hand with having a primary immunodeficiency.

Some are due to the illness itself, while others are residual effects to extreme treatments endured when hospitalized. Some are autoimmune related, and others can be due to allergic reactions or side effects to medications.

Just hold on to your seat because receiving a diagnosis of a primary immune deficiency is only the beginning to many ups and downs on this journey.

 1. Although it’s commonly referred to as “bubble boy disease,” they don’t have portable bubbles to keep your child safe from germs.  

Trust me, I have asked! Although I sometimes secretly wish I can put my son in a bubble, the best I was able to do was put a rain cover over his stroller after he had a bone marrow transplant. Believe it or not, I was still worried a draft would come up under that rain cover when anyone around us coughed or sneezed — even if it was due to seasonal allergies. As a parent, you wish you can protect your child, but the reality is you can only do your best.

2. You will become a “frequent flyer.” 

But not in airplanes. We’re talking doctor’s offices and hospitals. We’re commonly referred to as frequent flyers, and the nurses and doctors who know my son best have a protocol for his needs and commonly consult the same specialists on each admission.  

The nurses, nursing assistants, attending doctors and even the janitorial service workers on the floor know my son well. Although he’s unwell, they enjoy seeing him and helping to him recover.

It’s never fun to be admitted to the hospital, but it’s more comforting knowing the people involved in your care have seen you through this before. For a child who gets admitted frequently, a hospital can be a home away from home. And, likewise, visits to a doctor’s office can be very much the same. Knowing your care team and having them see your child when they are both well and unwell helps in many ways.

3. You will need your specialists to work together.

Your primary physician will also need to be good at project management. Since many bodily systems are involved in this illness, my son requires a team of specialists who work well together to treat the symptoms and manage his illness as a whole. Each system affects the others, so having a team that works well together is worth its weight in gold.

4. You are the expert in your child’s health, wellness and ongoing care.  

When my son was hospitalized his first entire year of life, I was initially at the mercy of his healthcare team because I was entirely clueless as to how anything worked in the hospital and had basically no medical knowledge whatsoever.  

I learned as much as I could by being involved in the rounds my son’s doctors held every day discussing his care. Soon, I was able to hold intelligent conversations with his medical professionals specific to my son’s care and weigh in on the treatments. I always empowered myself to be involved in the decision making and expressed my concerns about the doctor’s treatments and medications. An informed patient and caregiver helps the doctors to treat the patient.

5. Learn how to use the internet correctly.

I learned how Google could be my enemy or my best friend, depending on which websites I chose to obtain my information from. My search for knowledge is never-ending, but I’ve learned to rely on medical journals and medical research publications and stay away from websites run by the general public.  

When dealing with specialists, you want to be well-informed about your child’s illness, treatments and any medical advancements in the field. It can take months to get an appointment with some of these doctors, so don’t hesitate to make lists and have your questions ready in advance.

Be prepared to ask the right questions and be educated enough to understand the answers you will receive. Medical terminology can render a person highly confused, especially in the world of rare disease.

6. Get involved with organizations that will help you to deal with the ramifications of this illness.  

Finding guidance through resources available to educate yourself or simply finding peers who are on a similar journey of illness can lift the burden when you share your experiences and knowledge.  Sometimes you just need someone who “gets it” to lend a shoulder to lean on.  Who knows, you may be the shoulder they need as well.

7. Most importantly, don’t let this illness overwhelm you.

Life goes on and you can make the best of every day and enjoy life despite the challenges.

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