Where to go for Rare

If you are lucky enough to not be part of this rare community you may not realize that there is not a clear path to follow for many of those in looking for a diagnosis for themselves or their loved one. I will mostly use the example here of a parent because that is the role that introduced me to this world and the one that I most often help people navigate through. An adult trying to find answers for their own medical situation would also have similar struggles, sometimes different, because for them often options I may speak of like complex care are not as readily available. But again, I share from the angle I am most familiar with - if you are an adult looking for direction, please reach out and I can always try to find resources and direction for you too!

Newborn screenings have made a huge difference in how quite a few rare diseases are found. When a baby is born they have a heel prick blood test done to detect a number of diseases (the number varies by state). For an illness to be part of the new born screening panel it needs to be a serious illness with a reliable test and an acceptable treatment protocol that changes the outcome for those diagnosed early. RUSP (Recommended Uniform Screening Panel) is the list created by Health and Human Services. Once a baby is diagnosed with something through the newborn screening the protocol for that illness is set (though I am not saying it is necessarily easy), but often there is more on the horizon. For other families, the newborn screening is clear and symptoms are seen later.

Starting from the point where there are symptoms not on the newborn screening and someone is looking for answers for their child, the first step is often their pediatrician. I can tell you from experience our pediatrician was wonderful and took a lot of time investigating a lot of what we saw in our son from a young age. Never though did this brilliant doctor consider looking at Addison's Disease. You see we looked at all the typical reasons our son was suffering - he had a lot of typical childhood illnesses, but was a lot worse off than most kids with them - the ear infections, throat infections, his asthma was terrible, anxiety, ADHD.... For everything we saw the doctor could find a typical reason for, but none of the typical treatments helped him. That probably should have been a red flag to seek other opinions, but we all just looked for different answers to typical problems...

It was not until our crisis that we were connected with endocrinologists. And that is when we got the diagnosis. From there he has had other health issues sending us not only to mental health professionals, but neurologists and gastrointestinal doctors. While I would never wish that day of the crisis when our son could have died on us again, I do not know how much longer we would have been searching for answers had he not gone into crisis.

Many families spend years bouncing from doctor to doctor desperately seeking answers for their child's health. Some are lucky and have a hospital with a complex care department that can help, some pediatricians look for the zebras and not just the horses (the rare and not just typical illnesses), some may live near a NORD recognized Rare Disease Center of Excellence https://rarediseases.org/rare-disease-centers-of-excellence/. Most of these options are near bigger cities and hospitals. Those in more rural areas or just further from these resources may have a harder time. I suggest looking through your insurance for options for second opinions, looking at what can be done via telehealth as all of those options have increased greatly over the last three years.

Whatever the case, whatever your situation is if your child is sick (or if you are sick) and you are looking for answers do not give up. There are answers for most - for others there is a whole other community of undiagonsed people supporting each other and looking for answers still https://rareundiagnosed.org/.

What I want to stress most is to not let anyone tell you that any symptoms are not real. I want you to know that there are resources regardless of the situation you find yourself in. Not only are there resources, there are others who are going through similar things who can be there for you to empathize, sympathize and to give you ideas. You are never alone, no matter what it feels like in the moment.