The day you hear that your child has a rare disease your life changes. And the changes just keep coming. From dietary changes, to feeding tubes, to school, and even additional diagnoses. These lead to even bigger changes like moving from one state to another to find the right specialists, coverage, and services.

Brittany and Sanath have been through many of these transitions. They know each other “gets it” and that allows them to talk about the practicalities and the deep emotions of making transitions as smoothly as possible.

The impact of having a rare child can be overwhelming. Parents can find themselves in a dark place and defeated. We welcome back Brittany Ratke who found herself in that place and was struggling. Fortunately, she learned about a fantastic program known as Angel Aid that provides support and self-care skills for rare moms.

Brittany decided to apply to the M.O.R.E. program and raise the funds to attend. M.O.R.E. stands for Mothers Of Rare Experience. This virtual program brings moms together to build relationships, learn how to take care of themselves, and experience different types of therapy.

Just imagine a world where every single newborn is screened for all known genetic diseases.

In part 2 of our discussion with genomic scientist and rare dad Mike Hu, we discuss Project GUARDIAN, his effort to provide Genomic Uniform Assessment of Rare Disease In All Newborns. This visionary project could help reduce the emotional, physical, and developmental pain for millions of people.

mike@project-guardian.org

In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2.

Their responses to therapy and the typical delay in diagnosis they experienced for the older boy has led Mike to turn his professional skills to transforming newborn screening – but we will hear more about that next time.

Everleigh was the answer to Brittany and Chris’s dreams, their sunshine and rainbow baby after years of trying to become parents. Clouds started forming before Everleigh was even born.

Recently, Sanath put out a request to ask him anything with the promise we would answer as many as we could on our show. It was a bit scary, not knowing what we might have signed up for. But a commitment is a commitment.

If you like the “Ask Me Anything” format, watch for future requests for questions.

All rare disease parents want to see progress in the search for a treatment for their child. Sanath is has found a possibility through a high throughput screen.

As we launch Season 3, we learn about some exciting new developments for Raghav over the past few months. Some huge milestones were met while we were on our hiatus. You will need to listen – no spoilers here. We also looked back at Raising Rare in 2021.

Everything changed in August. It was a normal day, maybe even a better morning than most. Raghav was taking a nap when they noticed something was wrong. Something was very wrong.