My avid followers may remember a blog post made in October introducing Porter Ross Heatherly to the blog world. His mother, Sara, has been one of my best friends since I started working for her two summers ago and as the newest member of my family, I have been quite smitten with my second nephew.
Incase you forgot how beautiful he is:
I can remember sitting at the dinner table with Sara and Michael begging them to have a child and 6 months later at that same dinner table when they told me I would be an aunt. To this day Sara and Michael say it was the best reaction they had when telling someone they were pregnant. When Alana was pregnant, it was very hard for me to be at doctor's appointments, sonograms, etc. since I lived in another town. But, with Sara, I was there every step of the way. In the first 3D ultrasound I got to see Porter was trying to find his thumb. It was hilarious. I was there when we found out Sara was having blood pressure issues, when she went to the hospital, when she had Porter, and every moment after. My niece and nephews are truly the best parts of my life.
The beginning of February marked a huge turning point in our little family's lives. Sara and Michael had noticed a small twitching in Porter's eyes and, as any parent would, worried he was having trouble with his vision. A simple trip to a pediatric optometrist turned in to a long day spent at UAB's Genetics Center. The conditions of Porter's eyes led the doctors to believe he may have a rare genetic disorder and they immediately began testing.
Two weeks later, sitting in an awful hotel room in Reno, NV, my life came to a screeching halt. Most people have never had one of these moments. I literally felt like everything around me had froze. I was sitting on a maroon crushed velvet bed spread that smelled like 20 year old cigarettes when Sara told me Porter had a genetic disease called gangliosidosis. In that moment, I knew my life was going to be very different. My nephew, my little nugget, is literally that one in a million child in more ways than I originally thought.
Gangliosidosis is a rare genetic disease that is a result from both parents having the recessive gene. This disease prevents Porter from producing a certain enzyme that regulates the amount of lipids that build in his organs. The United States has literally seen less than a handful of these cases each year and most of them are seen in adults. Ultimately, in the next couple of years, these lipids will progressively destroy Porter's brain and nervous system. This disease will allow Porter to develop until a certain point and then begin to revert to infancy ending in death. "Death" is not a word I ever wanted to associate with any of my nieces or nephews.
This disease is so rare that there are no known treatments, cures or clinical trials. There is no prescriptive path of moving forward. Their doctor's exact words for treatment was "support and comfort". After a lot of thought and prayer, Sara and Michael have put together a plan that is best for them, their family, and for Porter. There are no second opinions, flying to some remote country to find a cure, or magic pill. There is just simply cherishing the time we have and figuring out how to emotionally deal with this change in paths.
So, to say the least, my life has dramatically taken a different turn. The meaning of my life and how I move forward in it has drastically changed. These next few months, while I still live in Auburn, will be spent with my beautiful nephew. I have always loved the proverb "this too shall pass" but now, it has such a more powerful meaning. Turning points in your life show you what should be important; allows you to step back and see beyond selfishness, pettiness, and pride like you never have before.
I wanted to share this not only in hoping you all will keep Porter and our family in your thoughts and prayers but also to explain why me as a person is different. I made a dramatic change in my schedule and thankfully, Sara and Michael have allowed me to spend most of my days with Porter. He is a happy boy and I may be biased but.... he LOVES Aunt KK. He is perfect.
A huge thank you to my family and friends who have walked on this path with me thus far. You all have truly been an amazing support system.
Please keep Porter in your prayers.
This too shall pass.
Incase you forgot how beautiful he is:
I can remember sitting at the dinner table with Sara and Michael begging them to have a child and 6 months later at that same dinner table when they told me I would be an aunt. To this day Sara and Michael say it was the best reaction they had when telling someone they were pregnant. When Alana was pregnant, it was very hard for me to be at doctor's appointments, sonograms, etc. since I lived in another town. But, with Sara, I was there every step of the way. In the first 3D ultrasound I got to see Porter was trying to find his thumb. It was hilarious. I was there when we found out Sara was having blood pressure issues, when she went to the hospital, when she had Porter, and every moment after. My niece and nephews are truly the best parts of my life.
The beginning of February marked a huge turning point in our little family's lives. Sara and Michael had noticed a small twitching in Porter's eyes and, as any parent would, worried he was having trouble with his vision. A simple trip to a pediatric optometrist turned in to a long day spent at UAB's Genetics Center. The conditions of Porter's eyes led the doctors to believe he may have a rare genetic disorder and they immediately began testing.
Two weeks later, sitting in an awful hotel room in Reno, NV, my life came to a screeching halt. Most people have never had one of these moments. I literally felt like everything around me had froze. I was sitting on a maroon crushed velvet bed spread that smelled like 20 year old cigarettes when Sara told me Porter had a genetic disease called gangliosidosis. In that moment, I knew my life was going to be very different. My nephew, my little nugget, is literally that one in a million child in more ways than I originally thought.
Gangliosidosis is a rare genetic disease that is a result from both parents having the recessive gene. This disease prevents Porter from producing a certain enzyme that regulates the amount of lipids that build in his organs. The United States has literally seen less than a handful of these cases each year and most of them are seen in adults. Ultimately, in the next couple of years, these lipids will progressively destroy Porter's brain and nervous system. This disease will allow Porter to develop until a certain point and then begin to revert to infancy ending in death. "Death" is not a word I ever wanted to associate with any of my nieces or nephews.
This disease is so rare that there are no known treatments, cures or clinical trials. There is no prescriptive path of moving forward. Their doctor's exact words for treatment was "support and comfort". After a lot of thought and prayer, Sara and Michael have put together a plan that is best for them, their family, and for Porter. There are no second opinions, flying to some remote country to find a cure, or magic pill. There is just simply cherishing the time we have and figuring out how to emotionally deal with this change in paths.
So, to say the least, my life has dramatically taken a different turn. The meaning of my life and how I move forward in it has drastically changed. These next few months, while I still live in Auburn, will be spent with my beautiful nephew. I have always loved the proverb "this too shall pass" but now, it has such a more powerful meaning. Turning points in your life show you what should be important; allows you to step back and see beyond selfishness, pettiness, and pride like you never have before.
I wanted to share this not only in hoping you all will keep Porter and our family in your thoughts and prayers but also to explain why me as a person is different. I made a dramatic change in my schedule and thankfully, Sara and Michael have allowed me to spend most of my days with Porter. He is a happy boy and I may be biased but.... he LOVES Aunt KK. He is perfect.
A huge thank you to my family and friends who have walked on this path with me thus far. You all have truly been an amazing support system.
Please keep Porter in your prayers.
This too shall pass.
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