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Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses the XLH impact survey and mental health in rare diseases.

My name is Dr. Al Freedman. I'm a practicing clinical psychologist and I specialize in supporting the psychological and emotional needs of patients and families affected by rare disease. I'm also a dad. The reason that I'm focused on rare disease is because of my son, Jack, who was born in 1995 and diagnosed with SMA or Spinal Muscular Atrophy. Jack was given one year to live when he was a baby and thankfully, he didn't fully cooperate with his prognosis. He lived to the age of 26. I learned a lot from my son and I learned a lot every day from other patients and families affected by rare diseases all around the world.

I provide one-on-one counseling services to patients and families. I provide group facilitation service for rare disease advocacy organizations. I provide facilitation for many rare disease support groups around the world. I consult with rare disease advocacy leaders on how to build support programs for their communities and I consult with industry partners on how to support the communities they serve with treatments and treatments that are in development. I'm very busy because there are very few of us at the intersection of mental health and rare disease. I'm happy to share what I know about my work and also specifically about the XLH community.

XLH Impact Survey

Not surprisingly to me, as someone familiar with many rare disease communities. The XLH
community has a significant mental health challenges and the survey the community conducted revealed 83% of adults and 90% of children reported at least one mental health issue. But not surprisingly, a small minority of these patients are seeing a mental health professional. Not surprisingly, anxiety is at the core of many of the concerns.

Those of us in the rare disease community deal with a lot of uncertainty and living with
uncertainty is anxiety-provoking. It came as no surprise to me to see that the most common mental health issue reported was anxiety. Depression was also reported. High rate of depression and also social isolation. Many rare disease patients in this community and others experience social isolation, which is a great challenge and was a challenge during the pandemic and continues to be a challenge for rare disease patients.

Addressing Mental Health in Rare Diseases

It comes as no surprise that attention to mental health would lag behind attention to physical health and medical issues when it comes to rare disease. I'd like to say as a dad that for 26 years, I didn't have time to talk about how I felt about my son's situation. I was busy literally keeping him alive. We have to attend to rare disease. If our physical condition and our medical status to keep stable is a primary need that takes up a lot of time. It takes up a lot of bandwidth. The attention to mental health lags behind.

Secondly, as importantly, access to mental health services is very difficult in the United States. Our mental health system doesn't work very well. It's pretty broken. Access to mental health services for people without rare disease is a challenge. With rare disease, to find person who can help us who has expertise in the unusual situation we're in, is very hard to find. Having insurance cover the cost is hard to find and there are very few mental health practitioners available. Part of this is practical challenge related to time and priorities. Part of this is our health care system just doesn't work very well when it comes to mental health.