May 31, 2019 Latest post:
Jan 26, 2022
Thank you for following my journey. My recent life’s path has taken a drastic change of direction. I'd like to relay what’s occurred and what may lie ahead. Forgive me, this post is quite long.(If you’d rather just know the highlights look for the ⚠️.)
⚠️. Some of you may or may not know, but several of my immediate and extended family have a condition called Dyskeratosis Congenita (aka DC). I have DC too. Officially, this was diagnosed for me in my mid-late 20’s. My youngest brother, Joe, was found to have it in his teens. My first cousin as well. Other close family have DC as well.
DC is a telomere biology disorder, whereby the end caps of your chromosomes (the telomeres) cannot maintain a “buffer zone” to protect the chromosomes when they make copies of themselves. An analogy is like aglets at the ends of shoelaces. The aglets protect the shoelace strings from unraveling. As a result of DC, those affected most often develop bone marrow failure or pulmonary or liver fibrosis, and have a many-fold increased risk of certain cancers of the blood, bone marrow, and GI or genitourinary systems. Other less severe, inconveniences, include tear duct blockages and early greying of hair. However, not every person with DC develops each of these problems.
⚠️. For me personally, up until now, I have been minimally affected by this disease.
Except, that’s not entirely accurate. In a different way, in that I have been affected in having had my brother Joe battle bone marrow failure, post-transplant viruses and other complications, and then metastatic cancer which ended his life in December 2017.
⚠️. Now, time has caught up with me. In late Fall 2018, I started noticing shortness of breath with exertion. I’ve been a lifelong exerciser, so breathing heavy at the gym is not unknown to me, but feeling like you can’t catch your breath is. I was due and in January of this year decided to follow up with my Hematologist for routine screening (which I’ve been doing for years). Part of the multi-organ monitoring included pulmonary tests, including a CT scan of the chest.
⚠️The diagnosis: Pulmonary Fibrosis (PF).
Of course if you google search PF, you soon realize (and are mortified like I was to hear that) the disease is progressive, with no cure. Progressive meaning it will only worsen over time. For some, that may be slow or could be quick. There is possibility for some people to receive lung transplant, which is or can be a trade off for more time. Without transplant, the average timeline for survival with PF sits at 2-5 years from time of diagnosis (depending on which website you read). However, those are averages. Some live 10 or 20 years or longer with this disease, others for less than 2 years.
I most recently had a repeat CT chest done at the end of April. Unfortunately, it showed progression of the fibrosis - progression even since January’s CT scan. I had further lung testing. My shortness of breath with exertion also worsened. ⚠️ I now require oxygen with activity. Currently, at rest, I don’t need oxygen, but if I’m walking or moving much I need 4 liters of continuous O2. And to think that a year ago I was running a couple miles twice a week... I am stunned at the drastic change in my physical functionality over such a short time. Emotionally stunned. Mentally stunned. It has been very difficult to wrap my head around what is happening. Seeing your own mortality in the not so distant future is a frightening thing to confront.
Fortunately, my family had been super supportive ever since I received my diagnosis. Their prayers and help is a blessing I am so grateful for.
⚠️ I also believe that God has a plan for this. I, you, or anyone may not understand it, or foresee the ultimate outcome. But I am a believer that chains of events, whether perceived good or bad by us as mortals, affect all of us in one way or another. Maybe someone’s trials or suffering is meant to trigger or lead to or influence a greater good or bestow graces on to another at the time and place they need it most. God has the grand plan. What can I do but pray to realize this daily and ask for graces to finish the race, however long the race may or may not be. That may seem like a good place to end this post, however I realize many may be wondering what in the physical world is being done to help me.
⚠️ Current treatment plan:- - I’m on a medication called Danazol to try to slow the progression of the lung fibrosis and keep my blood/bone marrow from fulminant failure. So far my blood counts are good on this medication and my liver is tolerating the medication well too.- - Oxygen therapy like I mentioned above. I’m also taking nebulizers to help clear lungs of secretions. - Proceeding for evaluation for possible combined Lung and bone marrow transplant. Unfortunately Mayo Clinic will not do this type of transplant for me. I have a referral in to the University if Pittsburgh. They have experience with transplanting patients with DC (lungs and marrow). They have designed a protocol that involves getting both lungs and bone marrow from a (deceased) donor. Lungs would be transplanted first, followed by bone marrow. The theory/rationalization is getting both “organs” from the same donor would negate (or at least reduce) the need for immunosuppressant drugs, since the transplanted bone marrow wouldn’t reject its own lungs since they came from the same person.
As of now, we sent initial paperwork and I’ve talked to one of the transplant coordinators by phone. I’m awaiting word. If they think I’m eligible then I would fly there and undergo their formal evaluation (1-2 weeks of appointments and tests). It would not be a guarantee of transplant. And even then, if I am eligible and put on the list, there is the reality that transplants are not without risks or complications.
⚠️ I was hospitalized yesterday (5/29) here in Rochester for severe left rib pain, and worsening pain when trying to breath or take deeper breaths. All tests ruled out anything sinister (for which I’m grateful), and point to the theory that I tore or severely strained muscles near the diaphragm from the violent coughing spells I get from PF. Plan is for non-narcotic pain management (non-narcotic to avoid suppressing my respiratory drive) and anti-inflammatory medications and rest.
One last thing to add (thanks for your stamina in reading through this novel I’ve created!).
⚠️ I want to give some clarity to my current situation. - My disease is progressing, no doubt. However, as of now I'm able to telecommute for work, still do daily activities, enjoy movies, watch my daughter Isabel play soccer, and chill with my son Ben and Jen Saete (Huiras). - And , I’ve got some of the race yet to run.
God bless you for being in the crowd along the path I'm running, and supporting and cheering me during this race.