November 25, 2016
I don’t really know what to say right now. With Thanksgiving upon us and family coming into town Jodi and I were given the news we really didn’t want, without the time to process it, and only the option to sit silently in shock. We are trying to wrap our brains around this.
On Monday 11/21 I called the geneticist to find out if any results were in yet. It was like making a phone call I didn’t want to make but at the same time I needed them to tell me something. I was actually feeling light headed and sick while it rang. I kind of hoped she wouldn’t pick up so that maybe I could go one more day in the bliss of ignorance.
So here is the deal…Tegan has Type 1 Hermansky-Pudlak. This is one of the most severe type of HPS. What does this mean? His life expectancy is 30 to 50 years old depending on when he develops pulmonary fibrosis. Once onset of fibrosis begins he has about 10 years. This also means he is at high risk of developing granulomatous colitis (something similar to Crohn’s disease). The statistics are 70% of people with HPS die of causes directly related to HPS with 50% of these individuals dying from pulmonary fibrosis, 15% from a hemorrhagic episode, and 15% from colitis. Sorry for not sugar coating it. I am angry. I am so overwhelmed with sadness, and I am feeling no rainbows after the rain right now. I know that will come, but right now I am so mad.
As the genetic counselor and I spoke she wanted to know if Jodi and I would like to come in and talk more about what this means. I sat there for a moment and then asked, “What else would we have to say at this point?” She said, “Nothing.” I sat there crying after I hung up. I asked her millions of questions but she just didn’t know the answers. I don’t blame her, how could she, she has never seen this before and is trying to learn herself. The problem is that we cannot find anyone around us who has seen this before.
So I decided to call the Hermansky-Pudlak Network. A women answered the phone but I could barely get out the words, “Hi, am Kristen, and my son, my son… sorry… my son was just diagnosed, sorry… diagnosed…” At this point she stopped me and transferred me to Donna. Donna sat with me on the phone as I cried. I was able to get out that he has Type 1 and Donna says, “Well…crap.”
Donna: “How long I have known he has HPS?”
Me: “Since September”
Donna: “You were waiting for that genetics test to tell you something different weren’t you?”
Me: “Yes… to tell me it wasn’t the worse case.”
Donna: “I know that feeling.”
Donna’s daughter was 2 years old when she was diagnosed with Type 1 and Donna started the Hermansky-Pudlak Network because she too lived in an information desert and was determined to find a cure. Let me tell you, I felt such a weight lifted from me. We weren’t alone in this. We talked for about 45 minutes about how to be proactive vs. reactive. We talked about the annual network conference in March, about how to advocate for Tegan, about current research, about how we could get involved, and everything that popped into my head. Her daughter is 29. She told me, “Kristen, Tegan is 3 years old so we have 3 decades to find a cure and already we have trials with new pulmonary fibrosis drugs happening right now.” Talk about an inspiring mother who has dedicated her life to a cure and her hope was infectious.
I got off the phone feeling a little more in control, a little less hopeless, and a lot more supported. The next day genetics called back and put in referrals for Tegan with the Pulmonary Clinic and the Gastrointestinal Clinic.
Next steps: Monday 11/28th we meet with a pulmonologist to see how we can monitor and come up with a plan. Ultimately we want to keep Tegan’s lungs as healthy and pristine as we can. In January we meet with GI clinic to discuss how we monitor for colitis and what symptoms to look for. If you think about this syndrome in sequence of complications it kind of comes in steps. We are already managing the vision and bleeding issues, but the next to potentially come is the colitis. The onset can be from 10 to 18 years old. Next could be pulmonary fibrosis. Being proactive is the most we can do and will do at this point.
I am ok, Jodi is ok, and we are really in shock right now. We have moments of grief and sadness and many more moments of laughing and enjoying our kids. Thank you all for your love.
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