By Today is rare disease day. ATTR (Amyloidosis) right now is still considered rare although more and more are being discovered and it may not stay that way. What a relief that would be, that would mean more treatment and research being done, and maybe a cure to be had.
I inherited Amyloidosis from my dad, who inherited from his mom, and we can trace the pathway back through his family. What members of his family were diagnosed with lou gehrig’s disease we are now certain it was Amyloidosis just not recognized back then. It is a debilitating disease. My dad went from a active man, to using a cane, to a wheelchair and eventually bedbound. My current cardio dr describes the gene mutation that I have as the least favorable.
There are over 150 gene mutations with hereditary Amyloidosis and the gene I have is ALA60, which goes after the heart. Unfortunately my dad passed away from Amyloidosis back in 2010 at that time there was no treatment options available. The medicine Tafamidis I am currently on to try an slow down the progression was just starting in clinical trials when my dad was alive but his symptoms were too far advanced to have him be able to qualify.
Most doctors have no idea what Amyloidosis is, and my goal is to change that, to educate people. It gives me a sense of focus and control if I am being honest on a disease that just takes.
Currently I have Amyloidosis is my heart, nerves, and Gi tract. There is no cure, although they are working on it. There is treatment to try and slow down the progression, but what is lost is lost.
This past week my body has been revolting non stop, and it is draining. With God I have made it through each day. My legs are becoming weaker and that is something I am having a hard tome dealing with. At 44 I am considered young to have this disease become active. However it is believed that all the medicine I took to battle cancer is what “activated” the gene. Go figure!
While all this sounds bleak and depressing, I have grown leaps in my faith and still doing so as Jesus and I navigate together. More like I keep pulling and He is like I will wait till you are ready to walk with me. I have learned a lot about myself on this walk so far, and feel like I have so much more to learn. Life what I took for granted before has become so precious to me. Memories I try to make, and journals I leave for my husband and boys. Friends are worth more to me, experiences are to be had. Through this horrible disease my husband and I have become closer, and my boys can see what living out wedding vows really means. When Brad and I were dating we always held hands and then the “newness” wore off and we didn’t always do it. He now holds my hands all the time, it started again so he can help me so I don’t fall but even on a good day we still do it. He has given more of himself to help me and I am so thankful that God placed us together years ago.
There are many accommodations that have had to be done, and still more that have to happen. Handicap parking is one, I have a cane, but I just can’t bring myself to use it yet. I am praying that God continues to work on me in that area. Walking alone I need to concentrate and really watch my feet. We had to get new dishes because my hands can’t hold heavy things. I used to love to write, and not I have to type (thankful for technology). I love to soak in a tub, but lately that is becoming harder and harder to get out, and our shower is too small for a chair so at some point there will need to be a change.
It can be frustrating that all these changes have to happen, and things that maybe Brad wants to do to the house/garage have to get pushed back. God is working on me with that too. He really is refining me…….
Next month is Amyloidosis awareness month, and I will be posting facts about the disease throughout the month. The goal that Amyloidosis foundation likes to achieve is to have people lite up burgundy. Buildings, porches etc in support of Amyloidosis. Would love to see it happen in my small town.
Keeping pushing forward, keeping working for Amyloidosis and making it known, putting a face to the disease, and keeping walking for Him. Making a legacy, and making my life mean something……
