More often than not, when we hear the diagnoses of our Chive Charities rare medical recipients, we’re completely stunned. Oftentimes, we’re introduced to families with a child or parent who is 1-of-100 with their known condition in the world. Sometimes, they’re 1-of-4. And sometimes, their disease is so rare, it hasn’t even been discovered or named, yet.
When that happens, the family’s challenges are especially unique. Think of it this way: If you’re the parent of a child with a rare disease, the first thing you do is look for resources or materials to learn more about the condition and how you can help treat it. So, for instance, if your child is diagnosed with Spinal Muscular Atrophy (SMA), you would likely speak to a doctor familiar with the disease and then get connected to a regional or national group that could provide additional information or support.
But what happens if you don’t have a confirmed diagnosis? What if all you have are a list of symptoms with no name attached, no organization to contact for help?
That’s what it’s been like for Annabella and her family.