Guest blog: Heather shares her experience with IPF for PF Awareness Month

This Pulmonary Fibrosis Awareness Month we have a guest blog from Heather, who is kindly sharing her experience with IPF to help raise awareness.

IPF diagnosis

I was diagnosed with Idiopathic Pulmonary Fibrosis (IPF) in February, 2013. I was 43 years old. My father and grandfather both passed from IPF so I knew there was a familial element to the disease but was still surprised when I received the diagnosis. Shortly afterwards, I completed some gene testing that showed I have a TERC mutation (which causes telomere biology disorders). Given that I was the third generation to have IPF, the gene mutation was less of a surprise.

Idiopathic pulmonary fibrosis is a progressive disease (with very limited treatment and no cure) that scars healthy lung tissue so that, over time, oxygen is unable to reach and support vital organs and death occurs. The progression rate is different for each patient, making it very hard to predict a path and outcome for any individual patient.

My diagnosis was made after I visited my primary care doctor for what I thought was lingering bronchitis. Thankfully she ordered a chest x-ray to rule out pneumonia and was able to tell immediately that, while not pneumonia, there was something going on in my lungs. I immediately saw a pulmonologist who sent me for a high-resolution CT scan. Shortly afterwards, I was diagnosed.

Thankfully, my IPF progressed slowly and, for the first two years, I was relatively stable. In the summer of 2015 I was prescribed supplemental oxygen. This was a really difficult time for me as it marked a real change in my disease progression. I was now ‘sick’ in a way that the world could see. No longer did I look normal and healthy, but I had an oxygen tank and a cannula in my nose.

People stared, kids whispered, and I felt embarrassed, sick, and vulnerable. I would make excuses as to why I did not ‘need’ to wear my oxygen out to the store, on a neighborhood walk, to friends’ homes. It took a long time, and several conversations with my husband and my pulmonologist, for it to sink in as to how important this supplemental oxygen was for me. I learned to accept it, to easily and comfortably answer questions about it and, ultimately, embrace it.

In February of 2016, I was diagnosed with oral squamous cell carcinoma. This is not an uncommon cancer for people with TERC mutation. Thankfully, I was able to have the cancer removed surgically through a semi-glossectomy, and did not need radiation or chemotherapy. I was told shortly thereafter, that I would not be considered for a lung transplant until I had been cancer-free for five years. This was devastating to me as I was unsure that the IPF progression would remain slow for that long.

Lung transplant

In early 2019, my lung function began to drop more quickly. I was only three years cancer-free and my pulmonologist did not believe I would live two more years without a transplant. He referred me to the transplant team, who agreed to meet with me only after a consultation with their oncologist had reviewed my case and could make a recommendation. The recommendation came back positive; but only because I had not had chemo or radiation!

I went through the evaluation in April and May and the committee deemed me too healthy to list at that point. In August my functions had fallen again and my case went back to committee. Because of the TERC mutation, the team took 4 weeks to research, consult with experts familiar with TERC and IPF, and debate accepting me as a patient. Finally, on September 16, 2019 I was listed! Less than 4 weeks later, on October 12, 2019, I received the beautiful gift of 2 new lungs!

As I’ve recovered from my transplant I find myself with strength and energy I haven’t had for so long. I’m able to take long walks (I’m building up to running again). I’ve been hiking. And I finally got permission to bike ride again and got a perfectly cute bike to celebrate!

My journey has been long and it has been challenging. I have been strengthened and supported by my husband, who has loved and nursed me through diagnosis, cancer, lung transplant, and recovery, my 2 children (one of whom also has the mutation), and my family and friends.

I have learned that we are our own best advocates. We need to ask questions and keep asking until we get answers. We need to know and trust our bodies and what feels normal and what does not. We need to find a medical team we trust, and who trusts us. We need to find, or build, a community that understands our challenges and unique needs. This is a shared journey and it is together that we work best.

To better understand risk factors and symptoms of pulmonary fibrosis, please visit aboutpf.org.

To better understand underlying telomere biology disorders (such as those caused by TERC and other genetic mutations) please visit teamtelomere.org.

RepeatDx is sharing this special guest blog as part of our involvement with Pulmonary Fibrosis Awareness Month, which takes place every September. Make sure you follow our accounts on Twitter, Facebook and LinkedIn and show your support! You can find other guest blogs relating to PF Awareness Month here. 

This blog was developed in partnership with Team Telomere. Team Telomere is a global community focused on supporting families in their battles with Telomere Biology Disorders.