Attitude of Gratitude - The Cure

Written as a Facebook status on May 25, 2019.

There has been some incredible news in the SMA Community that came out this week. I think, my Aunt Maureen has said it best, "Science rocks!!"
Yesterday, after hearing about the "cure" for 31 years, it is finally coming true.  Of course, it is 30 years too late for Emma and for me too. I have been blessed to be able to witness the effects of gene therapy first hand and I must say that it is like seeing a miracle every single time, Unfortunately, the old adage, miracles happen every day, came true too late for so many families. In most situations, I aim to be the optimist and for the most part, that is the case with gene therapy and its approval. However, my heart hurts, aches, for so many families, the parents, and siblings who never got to witness their children grow up. My Emma, my sister, passed away 27 years ago this year, for others, it has been even longer, and for still others, it has (only) been a week. In this case, despite what I grew up knowing, life is not fair (sorry to my grandpas). I don't say that lightly as fairness is not something I have ever chosen to focus upon, but in this case, I will make an exception. It is not fair, that Logan will  never dance at his wedding; it is not fair that Andy will never protect his little sister from a heavy down thunderstorm; it is not fair that Jerika will never get to hold her firstborn child; and it is not fair that Emily will never have a ballet recital. there are so many that I could go on for pages, but please know that I think of them always. I don't want to be the downer on this incredible news but I promised, long ago, to never forget, that I don't break my promises. I guess my message is;  be grateful for what you have, to those who came before you and to those who didn't make it. We are the survivors, we are the lucky ones. We have battled every day to survive and we made it. We aren't sure how much it will help us, yet, but we are here, we made it without a magic "pill". Don't tell us that we don't understand, we have seen everything and have witnessed everything. Just be grateful and have an attitude of gratitude! 

Offering Advice

[An excerpt from a conversation on a Facebook SMA support group. For privacy purposes names have been altered.]

I hate conversations like this. I hate that someone even needs to ask questions like this. The side effects of a diagnosis of type 1 SMA are potentially devastating no matter how you approach the use of equipment and g-tubes; there are no guarantees and that, truthfully, sucks. That being said, equipment and g-tubes are a valid option and one that should be examined on an individual family basis. I would never suggest that the equipment is right for everyone but I believe it is extremely dangerous to suggest that a family continue orally feeding if the child is obviously aspirating. Whether or not it is what you would choose for yourself matters very little when a life is at risk.

In case you're wondering what makes me qualified to be discussing this, I will give a brief history on my life experience because I do have some. I am 26 years old and have SMA. What type? Probably debatable on a number of levels but my neurologist at OSU says that I am a super strong type 1. Maybe he is right and  maybe not but I am one thing for sure; me. I, some how, (I choose to say by the grace of God) survived to the age of 8 without breathing support and until 16 years old without a g-tube. I am living proof that you don't have to have those things to survive but I am also proof of how horribly things can go if you don't use them. I don't suggest that anyone, no matter the type, follow my path because it is a miracle that remains unexplained that I survived. It was difficult and I would not want anyone else to have to go through everything that I did to get to this point. I now have a g-tube, j-tube, and a trach. No one told me to make these decisions and the doctors even tried to  talk me out of them. My options at the time of trach placement were 1) live in the hospital 2) get a trach or 3) die. Perhaps my life experience should have told me to give up and die since no one agreed with my decision. But I am stubborn and refused to live a life isolated in the hospital or die.

"Carl", it is admirable that you have been able to survive without any support, it really is. However, I think that you need to be careful when doling out advice to families with small children. My old physician regularly told other families not to worry about equipment because their child was similar in strength to me so they would not require assistance for many years either. More than 5 of these children ultimately passed away because they didn't have what they needed because they were predicted to be like me. That is a lot of guilt to live with day to day even though I was not directly involved. The likelihood that there is another person in the world who is exactly like you or I is very unlikely. This is why I am always happy to share my story with anyone but I am not going to say that they will have a much better chance at life if they follow me. My journey is not typical for a type one and I am well aware of how blessed this makes me. It is reckless and dangerous for individuals who are not typical of the disease process to run around selling snake oil to people who are sincerely desperate for any kind of hope. I am so honored to be able to share my story but I have a responsibility, as do you, if you remain a part of the community, to point newly diagnosed families to people who have experience with the average path of a type 1. We can be a source of hope to families only if we are realistic and the reality is we are not the norm. I don't believe in false hope but I do believe that people can easily be misled into believing that if they ignore their child's weaknesses they will improve and be like you. The reality is that everyday children are dying in spite of their parents doing everything they can to keep them alive.  Life is tenuous for everyone but even more so for individuals with SMA. Share your story of hope but do it with respect for people who have lived differently. They have valid and important information to share as do you but no one is going to respect your opinions and experience if you blatantly disregard and disrespect everything that others do because it isn't your experience. You can be an example but not if you don't show a bit of compassion towards others. Respect in this community is earned not freely given away just because you're an adult with SMA. You need to show respect for parents by answering questions when they are posed. You can't be an example if you get offended by people asking for clarification. You may have a wealth of knowledge but it's of no use to anyone if you keep it for people you deem worthy. You're not a true type 1 and I am not either but I accept that I don't know everything. I don't claim to know what to do for the weak type 1s. I know my journey and that is all.

Its Not in My Chart or my Declaration of Independence

The following document is something that I got from a great friend. He gave the bare bones and I filled it in with information that I think is important. The information below is intensely personal and real. It was written over the course of 2.5 years and contains a lot of information that is not public knowledge; until now. Comments are always appreciated but please be gentle with my life. Please feel free to take components of this and make it your own. Parents reading this, consider creating something smaller and similar for your child. It can be as simple as your child's likes and dislikes. Whatever you think physicians, nurses, respiratory therapists, other therapists, etc need to know that isn't in a medical chart.
 

Ignorance is Bliss

Not much gets me as fired up and passionate as someone questioning my quality of life. Lately, in the communities I’m a part of, the topic of quality of life for someone with a severe physical disability has come up. Although the issues are separate topics (one blogged about by a family, the other two by nationally televised programs) I found myself feeling frustrated by the beliefs expressed in all three forums.

There is an old saying that goes “ignorance is bliss” but, in my opinion, that couldn’t be further from the truth. Lack of understanding, in my experience, leads to a great deal of misunderstanding. Looking at the child version of myself, you would not have thought anything was wrong with me…you would have thought that I was an average baby girl. My parents learned that I had a potentially fatal disease called Spinal Muscular Atrophy or SMA. In 1988, they weren’t offered much, other than “take her home and love her”. To this day my father says “as if we would have done anything else”. The truth is, my parents did exactly what they were told but also took the diagnosis and its accompanying timeline of a maximum of 2 years and lived. As a child, my parents insured that my life, and that of my younger sister’s who also had SMA, was full of ordinary things. We attended school, went to the beach, family vacations, spent time with friends, had tea parties, and so much more. There were medical things that had to be addressed too. We had daily breathing treatments, physical therapy, speech therapy, doctor appointments, shots and hospital stays. It wasn’t the life that my parents imagined when they found out they were having a baby but it was an awesome childhood. In 1991, my father became an unwitting single parent after my mother was killed in a car accident. He was forced to take on the role of mother, father, doctor, nurse, chauffeur, chef, and so much more. In the next year, we also lost my sister to SMA and we became a family of two. Life changed drastically as we moved and attempted to start over. Despite the hardships, my dedicated caregiver, Brenda, ensured that my childhood was nothing less than extraordinary. SMA limits my ability to do almost everything independently. I have never had the ability to sit, crawl, stand, or walk but that didn’t keep us from doing anything I could think of, from horseback riding to canoeing to flying in an airplane. My world was only limited to my imagination. Despite what passersby’s may have thought when they looked at me, I have lived an extraordinarily happy life and I’m not done yet.

Quality is defined as “The standard of something as measured against other things of a similar kind; the degree of excellence of something”. So I guess that one could say that you don’t know quality until you have something to compare it against. In this instance, no one can judge what quality is to another person. Like it or not, I feel that my life is a quality one worth living. Despite needing to rely on life giving equipment, I enjoy myself and feel that today, at the very least, is worth it. I can’t judge another person’s quality of life because I don’t live it but my inability to accurately predict that there will be quality moments in every day should not allow me to quantify their days. We’re not born with an expiration date that is visible to the world and as such no one knows how long they have. I agree with most people that however many days you have; they should be made the most of. But, that being said, into every life there must fall some unpleasantness. Not many children enjoy car seats, yet any responsible parent makes their children use them because they are to protect them. Similarly, my father chose to protect my life by providing certain equipment that may not have been my favorite. Everyone has the right to decide what is best for their family and child. I don’t have to agree with anyone else’s choices but please don’t force your choices onto me. My life, my choice. I know that life is a terminal experience and that my days are fewer than they were last week but I am determined to enjoy this “terminal illness” because that is the hand God chose to deal me. It can be hard but life would not be worth fighting for if it was easy.

From the outside looking in, you might assume that I have nothing to live for but you would be wrong, dead wrong. Yes, I require a trach and ventilator to breathe. Yes, I have a feeding tube because I can’t eat enough by mouth. Yes, I use a power wheelchair because I can’t walk. Yes, I have been in the hospital longer than I can count. But when I wake up in the morning and look out the window, I’m thrilled that I have the opportunity to live another day to its fullest. I have bad days, like everyone else, but despite what you might think, I also have some amazing days. My quality of life is probably better than some able bodied individuals. I know, at 24 years old, I’ve outlived the doom and gloom prognosis given to my parents by more than ten times. I know that tomorrow is not promised to anyone so, despite what you might see as limitations too large to overcome, I will live this day, and every one after it, to the fullest. My disabilities are made disabling by others ignorance. “Ignorance is bliss”…or is it?