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.

We have heard the exciting news that the assay found 116 hits, 43 of which are already approved for other conditions. Sanath has pulled together a team of experts to help him sift through this list of compounds and develop a plan for systematically assessing the various properties of these compounds. This is where the hard work begins.

The whole theory behind HTS is 'shots on goal'. The more shots you take, the more likely one of them will score. In the biopharma industry, HTS is done at an industrial scale with literally millions of shots on goal. Because SSMD is so rare, they have no idea what to expect from this relatively small sample. This is groundbreaking work.

Two years ago, Sanath had no exposure to the research process and even had to look up the definition of a gene. In this episode, he sounds like a seasoned researcher. He takes us from where they started, hoping to repurpose an existing drug, through the first few treatments they tried, and finally to the program they have established to look at the potential of thousands of medicines.

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

We are starting a unique 3-part series about a couple of rare disease Dads finding themselves doing things they never expected. We are talking to Bo Bigelow whose daughter Tess has Hao-Fountain Syndrome (USP7).

It was a chance of a lifetime, but it was scary for 10-year-old. Billy tells us about his memories and perspective being in a clinical trial for Duchenne Muscular Dystrophy. 

It was a chance of a lifetime, but it was scary for 10-year-old. Billy tells us about his memories and perspective being in a clinical trial for Duchenne Muscular Dystrophy. 

They were on the front lines of research that has now brought hope to some boys with Duchenne Muscular Dystrophy. Exon skipping clinical trial.

The costs of raising a rare child are daunting. Last time, we talked about the medical costs. In part 2 of the conversation, we are going to go a little bit deeper. We are going to discuss the impact on Sanath and Ramya’s lives, their mental health, and their relationships.

The Everylife Foundation released a report in February 2021 that showed the overall economic burden of rare disease in the US is approaching ONE TRILLION DOLLARS every year. That is an attention-grabbing number. But what does it really mean? We explore this question through Raghav’s story.