Issues with a rare diagnosis happen. Only those affected by a rare condition would identify.
Today, I seek to expose some big issues that exist where a rare diagnosis lies. For anyone who has a child or loved one or happens to have a rare diagnosis, this is for YOU!
You would think you could just call up the local hospital or doctor’s office to follow up with a condition. However, when it is extremely rare, even knowing what doctor or area we need to be seen in is a challenge.
The issues lie in the scheduling staff not knowing or understanding the rare breed of conditions. For us, it has meant traveling to appointments finding we were wrongly scheduled. This is a big hurdle to pass.
Once you get a concrete diagnosis, even if it is rare, you’d think there would be knowledge surrounding treatment. For us there is knowledge, but much of it is for the other side of our rare genetic mutation.
Tests have been ordered, that we had no business enduring. I have been urged to join foundations, groups, and such that did not fit my child’s rarity.
The issue in this lies: wasted time, energy, and finances. They all are terrible things to waste. Simply, at this time, there isn’t enough accurate information about my son’s genetic mutation.
Every time we have seen someone in our Rare Clinic, they are doing new research projects. Why? There is very limited information about my son’s condition. It is like they are writing documents as these children are aging. It feels very dark, lonely, isolated.
My hope is that as data is collected, the next generation will not be in such an information deficit. Hopefully, new information is coming to the surface daily.
Because the diagnosis is relatively new, and very rare, there is a non existant community for support. None exists yet.
For us there is some on the other side of the mutation, which is more common. But my son has the rarest one. It is very difficult to find others in our shoes.
Thankfully, with social media, we have found a few. For more information on this topic, see our post: Rare Diagnosis.
There are issues with having a Rare Diagnosis, but the good news is there is someone out there that understands. Locating specialists, even data that sheds light can be tedious.
Thankfully, we are living in the information age, where information is right at our finger tips.
If you are comfortable, share what Rare Conditions you are facing in the comments below, adding what issues you have encountered with your Rare Condition.
Thank you for stopping by today. Please come again soon. Blessings to you and yours today and always,