Expert guidance and resources for a family dealing with a rare disease

September 17, 2019 in Family Caregiving

When you or a loved one is diagnosed with a rare or complex health problem, having quick access to physicians who have expertise in treating the disease makes all the difference. That’s the situation that Kathy, one of our members, faced and she shared how PinnacleCare helped her entire family understand the condition and connect with the resources they needed when faced with such a serious diagnosis.

I have access to PinnacleCare through my employer. I was one of those people who thought I didn’t need help dealing with things, but PinnacleCare changed that perspective when I learned I had a rare disease, adrenomyeloneuropathy (AMN). It’s a genetic neuro-degenerative disease that primarily affects men and boys. There is currently no cure, although there are treatments that can help alleviate some of its symptoms and may slow the progression of the disease. Women are the ones who carry the gene mutation and some of them also develop neurological symptoms, though the symptoms are not as severe as they are in men and boys.

Not only did PinnacleCare connect me with a doctor who was able to diagnose this rare condition, they also helped me get a second opinion, which was comforting because I could now be sure I knew what I was dealing with. It was just good to have someone to talk to who could provide support.

One of my grandsons was diagnosed with the more severe form of the disease, adrenoleukodystrophy (ALD) and is terminally ill. Two of my other grandsons also have the mutated chromosome, which means they have a 35% risk of developing the severe form of the disease. Even though my daughter isn’t the PinnacleCare member, my advisor told me she could help my daughter. The advisor talked to her and connected her with an expert in the treatment of ALD in Pittsburgh. If either of her sons develop the more severe form of the disease, she can quickly get them to this specialist. With this disease, time is of the essence.

PinnacleCare not only connected her with the doctor, they also helped her with all the paperwork and gathering both her sons’ medical records, which was a big help to her because she’s dealing with two sons with this disease. They really went above and beyond helping my daughter.