February 2024 – beatingcowdens

… said almost no one except us. Ever.

That’s why it was intriguing and exciting when Kristin Anothony from the PTEN Foundation contacted me last spring and asked me to share my story on a podcast. Kristin and I have been in touch since before she started the foundation that now represents all of us.

We met Kristin in person in 2018 when she flew to New York for a dinner where Meghan was being honored

We were interviewed for episode 2 of a 5 part podcast. The link is here…

I am constantly humbled by the number of people who interface with this blog. It is mind-blowing to me that people either stumble across this or come here on purpose to learn what our PTEN journey has been.

Back when we were diagnosed in 2011 the internet had sparse mentions of PTEN mutations or anything related to it. But, since I was a mom on a mission my first goal was to create a survival network of others who knew this journey. I connected with Australia, Virginia, California, Colorado, and Alabama. I later found others in places across the globe. And, even though we were all too far for gatherings, in many ways they became my closest confidants.

People dismiss social media, and as a teacher and a mom, I have seen the damage it can do. However, as a rare disease patient, I literally cannot imagine my life without it.

When a diagnosis that is new, scary, and uncertain comes your way, you need hope. You need success stories. You need to know that although it is hard, so hard that sometimes it seems impossible, you are not alone. Like so many other things in life, when used properly, it is good for us. When used in the spirit it was intended social media can be our lifeline, giving us the connections that we so desperately need.

And sometimes if you are lucky, one of your internet lifelines travels to New York from Virginia and you get to hug her in person…

And if you are not that lucky, well, you still are. Because we have an entire team right now, climbing Mt. Kilimanjaro in Africa to raise awareness for us, and to raise awareness of PTEN mutations across the globe.

The rest of the podcasts are linked here. The content is amazing, from Kristin, the founder, and president of the PTEN Foundation, to Ashley and Keegan, a PTEN mom and son who amaze us every day, to Dr. MacFarland and Dr. Frazier, much-needed and appreciated medical professionals helping us navigate this wild ride.

As we head into World Rare Disease Day this week, I encourage you to share your story. Share it here in the comments, or share it wherever you feel heard. It matters. You matter.

#beatingcowdens

The primary care, a title he earned through the path of least resistance, abruptly left the practice in December. There was no notice, and I found out quite by accident. But, none of that surprised me. Very little surprises me anymore.

After 12 years of a formal diagnosis, and a whole lot more than that at too many doctors all the time I just shake my head.

Don’t let it define you they say. Except it takes so much time. All the time.

We need someone to check the boxes. In theory anyway. We need someone with a license to order the diagnostics so we can avoid a few specialists. This PTEN team is often left without a captain. I sometimes feel like I am playing all nine positions at once, and the irony that I cannot throw or catch is not lost on me.

I’ve been on the phone for 2.5 hours trying to get a refill on a medication that my college-age, currently out-of-state girl has been taking for years.

The pharmacy can’t fill it without a doctor. I get it. I called the office (HIPAA on file is my lead in… all the time) and they can’t fill it until she sees someone. The last refill was in November. She’s not due home until the 7th of March. I offered to make the appointment and asked them to review her chart and authorize it in good faith.

No. And that was a hard no. A conversation ending block from a medical assistant who undoubtedly is following rules. But the rules are made for situations that fit in boxes. We pretty much live in the basket of the shredder. There are no definable boxes anywhere in our lives.

So, I made the appointment for March 7th for the two of us. Her medication will have lapsed by then. And when it is called in I will end up paying an extra $30 to expedite it. It’s not about the money really. It is that that fee is for people who wait until the last minute. I don’t.

We will go on March 7th together. I already met this doctor at my husband’s appointment to transfer primary care. I asked her if she was willing to take on two patients with PTEN. She looked a bit like a deer in headlights but reluctantly agreed.

I was online this morning trying to print out a guide for physicians who have no idea what our disorder is while trying not to be frustrated that we are once again caught up in the red tape of a system that requires the two of us to see ANOTHER MD who has NO IDEA what we need, so we can tell them what we need, so they can make us jump through more hoops to get it.

I’m grumpy.

I get that the rules have to exist, for the 90 percent of us without rare diseases. And, somewhere I understand why the other 10 percent of us have to suffer.

But, just because I understand it doesn’t mean I like it.

There has to be a better way.

And when I searched I found this site… https://www.ptenresearch.org/for-families-living-with-phts/additional-resources-and-information/useful-links/ Which ironically includes a link back to this blog. Which is both flattering and mind-blowing to me. I can’t do anything besides commiserate!

Fortunately, the PTEN Foundation came through again and I found this on their website.

pten-brochure-2023.pdf-2 Download