What Do You Do When your Child is Suffering from a Rare Disease?

One shoe does not fit all: listen to patients and family because the sound of hoof beats may be those of zebras, the rare diseases.

Have you ever heard “But they look good,” “Nothing he/she has seems to fit,” “Let’s give it time and let the disease show itself?” Yes, doctors are human too, and statements such as these prove that patients and caregivers need to take responsibility and push, especially when a doctor drops the ball.

What is a rare disease? According to the Global Genes Project, rare and genetic diseases affect 1 in 10 Americans, 30 million people in the United States and 350 million people globally. The NIH estimates that 50% of people affected by rare disease are children, making rare diseases one of the most deadly and debilitating for children worldwide.

What do you do when you are turned away over and over again by doctors, when you know that your child is suffering? You take matters into your own hands: study, educate yourself, communicate, use your VOICE and push the limits.

I will list a few things I always did during the challenges brought upon me when finding the diagnosis for Brody and what I recommend for you:

• Symptoms should be recorded daily.
• Pictures/videos should be taken to show the doctors in case his symptoms aren’t flaring during a visit.
• Get blood work done, and all labs/tests should be done that look at more than just the basics, such as complete blood work (CBC).
• If anything is flagged three times or more, it should be noted and put in a different “folder” to look into.
• Call doctors all around the world, asking if they are familiar with any of the flagged blood work or his symptoms.
• Listen to your child. If he has no VOICE, be his VOICE.
• Get doctors who will communicate together. When dealing with rare diseases, it is not an easy diagnosis to make. You must pull doctors together.
• Do not be afraid to ask the hard questions.
• Ask doctors, “What is the plan of action?” and “What are the next steps?”
• Get your records. You are allowed all records (this includes scans now that can be put on disks), and you should get them before you leave the hospital or doctor’s office.
• Hospitals have online accounts to look at future appointments, medical records and enough information for you to take control over your loved one or yourself.
• When a doctor says, “you don’t look sick,” ask him/her to explain this theory. Most illnesses stem from within.
• Doctors, good doctors, will know when to get help and respect you for helping them. It’s not about being right or wrong, it’s about coming together to help the children.

I never once stopped being a mommy, but when you hear your baby screaming and you can not help him and you are not getting answers except for very rare findings that show signs of disease but nothing “seen or known,” YOU HAVE NO OPTION BUT TO BECOME THE ADVOCATE.

I respect doctors’ hard work and devotion. I understand the hardship with diagnosing a rare disease and the struggles of both the patients and doctors. This is why I vowed to be the VOICE for all involved.

When the medical world says, “I know they have a disease, but I can not do anything to them,” it is like a fireman who comes to their home and says I see your home is on fire, yet he/she gets back in the truck and leaves. I will fight for the doctors to help them. We all have a responsibility to be a part of our HEALTH CARE!

I recall after my visit to the NIH for my son’s gene testing, a doctor later called me and said, “I don’t think I have to tell you this, but as a mom, I’m telling you he is very sick, so keep pushing.” I cried in the car, knowing I could not give up, but I felt so alone.

Now, almost two years later, I have a 501c3 Foundation, Stop Childhood Autoinflammatory Diseases,  for all children who suffer from an autoinflammatory disease. I coined CAID, knowing the struggles Brody had to get a diagnosis. We are able to help others, while we help him! My fight is ongoing and with a purpose.