A&A #3: NOT ENOUGH - PARENTING AND SPINAL MUSCULAR ATROPHY
SEPTEMBER 06, 2016 AT 14:02PM EST BY EFREM ROBERSON
Our grand prize winner, Kimberly Sullivan, has a grown son with Spinal Muscular Atrophy (SMA). Of course, life is difficult with a disease as severe as SMA, but what about the caretakers, the brothers or sisters, the moms and dads? Life can be very difficult for them, too, especially when people in their lives don't appreciate the extent of care required for whoever it is in their life that's suffering.
The passage below is Kimberly's reflection on being told through her life that no matter how much she does -- even given the colossal amount of effort she puts into caring for her son, Adam -- it's not enough. We hope you'll enjoy it, and if you want to read more, you can read further at
her personal blog.
My whole life, I have struggled with being enough. This weekend, I spent the whole weekend being not enough. I am not gardening enough, cooking enough, cleaning enough, doing enough. I am just not enough. This is the message that I have been hearing my whole life.
This constant state of not being enough is exhausting to my already exhausted, over-worked body.
I am the mother of a 22-year-old son in a wheelchair on a ventilator. He has a condition called Spinal Muscular Atrophy. In order for him to participate fully in life, I have to be fully involved and tuned into his every need 24 hours a day, 7 days a week. I don't ever get to rest. I never get to shut off. I never get to not be in charge.
Never the less, people in my life still feel the need to point out where I need to do more. It makes me angry. It makes me feel undervalued. It makes me feel like I am not enough.
The people who seem to be saying I am not enough are the same people who couldn't maintain the level of activity that I have no choice to keep up with for 24 hours, let alone 365 days a year. My husband doesn't usually make me feel this way. In fact, I am sure that he feels the same way. There is always too much to do and not enough time. My son does not make me feel this way. He asks a ton of me, more than I can do much of the time. He realizes he requires a ton of care, and tries to stay distracted so that I don't have to be getting up every two minutes to take care of this or that need. He frequently thanks me for taking care of him.
The reality of the situation is there is a lot of "not enough" in my life. Not enough rest, not enough time to relax, not enough help, not enough time in the sun, not enough alone time, not enough time to shower, not enough time to do the things that recharge me, not enough time with my husband, not enough escape from stress, not enough time to eat chocolate cake, not enough time to color, not enough time to paint, not enough time to devote to my chocolate business, not enough time to read the Bible (this is one of my favorite things to do), not enough time to...
The list just goes on and on.
Here is what there is enough of: Love for my son. Time for late night conversations and video games together. Time to work on his homework together (not enough energy on my part). Time to discover how amazingly smart my son is. Time to spend days together exploring Chicago in his speech class. Time to walk to 7-Eleven to have impromptu picnics of Slurpees, taco rollers for him and tacos for me. Time to go to movies, or Denny's, or wherever else he wants to go for Mom and Adam Sunday date nights.
These are the things that are important to me. These are my priorities. Taking care of my son and his needs is the only thing on my to do list. Anything else that gets done is bonus. When someone tries to guilt me into doing things they feel are important, they are robbing my son of my time. When they try to get me to do things beside rest, they are robbing me of energy that I need to listen for Adam overnight when we don't have night nursing (I usually have 1-2 nights of night nursing, and hubby takes two nights. That leaves me with 3-4 nights a week with constantly interrupted dozing).
If I share some of my precious energy with you, you better appreciate it, because that means you are important to me. Because there is just not enough of me to go around.
Congratulations from the DNAsimple team, Kimberly!
A&A #2: CHARCOT-MARIE-TOOTH DISEASE
SEPTEMBER 06, 2016 AT 13:46PM EST BY EFREM ROBERSON
This submission comes to us from Leona Pence, a donor to one of our studies who also just happens to be an author! The piece below describes her history and experiences with CMT and her impressive accomplishments through significant hardship. We hope you'll enjoy learning more about her, her condition, and her life through the passage below.
For readers who are interested in learning more about Leona or in reading her novel,
Hemphill Heights, we encourage you to visit her
Amazon Authors page.
How many of you have heard of Charcot-Marie-Tooth disease (CMT)? Named for three physicians (Jean –Martin Charcot, Pierre Marie from Paris, Howard Henry Tooth from Cambridge England) who identified it in 1886, CMT is one of the most common inherited neurological disorders, affecting 1 in 2,500 people in the United States. There are many forms of CMT, but the type I inherited is CMT1a.
You can read more about CMT by clicking this link.
There are many people in my large extended family with CMT. To pass the gene, one parent must have the disease. There is a 50-50 chance of passing it on to their children. I am one of eight children, three of whom inherited the genetic flaw from our mother.
CMT affects peripheral nerves and muscles. As a result, my lower legs and feet, lower arms and hands are affected. By the time I was eleven, I’d had several surgeries on my feet to correct deformities. I walked with a limp and unsteady gait, but I had a fairly normal childhood. The worst part for me growing up was not having a diagnosis. My mom just said we had bad blood. School children could be cruel. They would ask why I walked funny and I couldn’t give them an answer. My brother and I were mocked often; I was embarrassed to walk across a room.
Hearing loss is rare with CMT. However, my family, being rare, inherited that flaw, too. My mom was deaf by the time I was born, and my brother was severely hard of hearing at an early age. My sister and I didn’t have hearing problems until our later twenties. I am thankful I was able to complete my schooling before my hearing was affected. CMT is slowly progressive. By the time I was forty-five, I was both deaf and using a wheelchair. My hands/fingers are too weak for sign language, but I’m an excellent lip reader.
I got married to a wonderful, supportive man on my 19th birthday and raised four children with him. Our oldest son inherited CMT. We were given a diagnosis by the Muscular Dystrophy Association when he was in the third grade. At age fifty-two, he works as a microbiologist in Rochester, NY. He is deaf and uses a cane for balance.
My motto is: When life hands you lemons, make the best lemonade possible. I’ve tried to keep a positive outlook. CMT does not usually affect one's lifespan and can range from mild to severe. Since my hands are too weak to type, I wrote a novel called Hemphill Towers using the eraser end of a pencil. I now use an iPad stylus to type with to keep eraser goop out of my keyboard.
CMT is a complex topic. I hope you’ll click the above link to read more about it and bear in mind that all people who walk with a staggering gait and hold onto walls are not drunk. They just might have CMT.
I don’t know if I’ve overcome obstacles or just worked the best I could with what life offered me. Losing my husband to lung cancer in 2006 was the hardest of all. But it forced me to turn to my computer to save my sanity. A big door to the world opened for me. I made more friends than I ever thought possible. Writing a novel and being a classroom mentor at F2K (Fiction For 2000) still boggles my mind at times.
Congratulations from the DNAsimple team, Leona!
A&A #1: LIVING WITH SPINAL MUSCULAR ATROPHY
SEPTEMBER 06, 2016 AT 13:27PM EST BY EFREM ROBERSON
These photos were submitted by Sierra Kulas in her submission to DNAsimple's First Rare Disease Art and Awareness Contest. Thank you, Sierra, and congratulations!
For those who are unfamiliar, Spinal Muscular Atrophy (see
Wikipedia's page) is a debilitating neurological genetic disease which affects a protein (called SMN) which is necessary for the survival of motor neurons. This leads to the progressive failure of muscle tissue over time and manifests in numerous painful and severe ways. While there are treatments for symptoms of SMA, there is no cure, and drugs which target SMA specifically have still not been approved by the US FDA.
We hope the photos below will give you a tiny insight into the still-colorful life of one child with this disease.
Congratulations from the DNAsimple team, Sierra!
THE TWO-HIT HYPOTHESIS: WHY DO I GET CANCER BUT NOT YOU?
MARCH 05, 2016 AT 05:28AM EST BY OLIVIER NOEL
Ever wondered why two smokers who smoke the same amount end up with one having cancer and the other does not? What does it actually mean when doctors say that you are “predisposed” to a certain form of cancer?
A famous researcher named Alfred Knudson came up with an answer for that question in the 1970s called the two-hit hypothesis. But before we can understand his theory, it’s important to understand some basic genetic concepts. First, what exactly is cancer? We know it’s a terrible disease, but what's going on inside of your body when you have cancer?
Our body has a whole is made up of tiny units called cells that work together to form our different organs (heart, lungs, kidneys, etc.) which, in turn, work together as one big unit. That’s what keeps us alive. And during our lifetime, most of our cells will multiply so we can have bigger organs or simply replace the older cells. You can imagine how complex of a process the whole thing is and that it requires very tight regulation to make sure that everything goes off without a hitch. It's pretty amazing that we get it right most of the time in the first place!
As it turns out, we have genes that are there specifically to prevent cells from multiplying when they are not supposed to, and we have yet others that tell cells to multiply only at specific times. These genes that regulate cell division fall into multiple categories, but for simplicity's sake, we'll put them in two categories and call them tumor suppressors and oncogenes. The core of the matter is this: when these genes are damaged in any way, there is nothing to tell the cells to stop multiplying. It’s a perpetual green light from there. Cells growing in an uncontrollable manner lead to chaos, and this is precisely what we call cancer!
---
When we are born, we roughly get half of our DNA (genes) from our mom and the other half from our dad. We generally have two copies of each gene (one from mom and one from dad). It works in the same way for oncogenes and tumor suppressor genes (meaning we get a copy from each parent).
But unfortunately, sometimes you can get a defective or mutated copy from mom or from dad. When that happens, it doesn’t automatically mean that you’ll get cancer. It just means that now the single gene is going to have to do the job of two. In most cases, this is fairly doable. It might not be as efficient, but it can happen. But what happens when, let’s say, you are born with one functioning gene (oncogene, tumor suppressor or another critical gene) and some external or environmental factor (smoking, chemical exposure, etc.) causes the remaining functional gene to be mutated and stop working? The answer is that you will be left with no functioning genes at all, and that will ultimately lead to cancer.
But what if you were born with two normally functioning genes (again, those same critical genes) and then get exposed to an external/environmental factor? Well, depending on the severity of the external/environmental factor, you can be left with either one functioning gene (in which case you might not develop cancer) or two damaged genes (leading to cancer). This is the underlying principle behind the two-hit hypothesis: you need a double assault affecting both genes to lead to cancer. However, if you’re already born with a non-functioning gene, you become much more susceptible to a particular cancer because you are only one "hit" away from having no functioning protective genes. This is in essence what it means to be more prone to a cancer than other people and can explain why people with similar lifestyles have different cancer outcomes.
Are you a cancer survivor? Do you want to share your story on our blog? We’d love to hear from you. Please contact us at
hello@dnasimple.org if so! You can also contribute to scientific research and finding a cure by signing up
here if you haven't already, and you can see how it works
here. We'll do everything we can to make sure your contributions go a long way!
WHY DO DNA SAMPLES MATTER?
MARCH 05, 2016 AT 05:27AM EST BY OLIVIER NOEL
Every so often, I get asked by people in the community about the importance of DNA and DNA samples:
"Why do researchers always want samples? What can they do with my DNA? Better yet, with my spit? Isn't that just dirty stuff that the body cleared out that's in there? "
As a biochemist and geneticist, my first inclination is to start describing the structure of DNA and how it is the building block of life, but then I realize that -- depending on my audience -- this might not be the most effective way to explain what DNA is.
The point I would hope my audience takes home, though, is that DNA is an infinitely small thing that we cannot see with the naked eye that makes us who we are. It's like a code inside the cells in our body that programs us to look the way we look and behave the way we behave.
Sure, the environment we live in plays a significant role in molding us into the person we are, but that's the part that we can see and are conscious of. The DNA part is the part that we cannot see, and it is just as important -- and even more important than we can even realize in some cases in determining the way we are and the way we behave.
But what else can our DNA tell us?
Well, just like in any other codes, it can carry mistakes. So our DNA sometimes has a mistake in its code which cause us to have diseases. This is what researchers and doctors mean when they say that someone has a genetic disease.
Researchers are able to use technological and scientific techniques to look at our DNA and see where mistakes have occurred. They can do so by comparing the DNA of someone who doesn't have a disease to that of someone who has a disease, and the difference in their DNA can explain why the disease occurs. Research that scientists perform is often to look for ways to "correct" the mistake in the DNA with various methods and -- if and when they can do that -- that'll be the day that a cure is found for that particular disease.
We can have so many diseases, so one can imagine how difficult that work can be and how many scientists and research teams it'll take to study all of the diseases and come up with a cure for each. As I mentioned earlier, before you can find a cure to a genetic disease, you first need to understand what causes the disease in the first place.
Simply put, scientists first try to figure out where in the DNA the mistake happened. This is why DNA samples are so important to researchers: they need as many DNA samples as possible from different groups who have a particular disease to compare their DNA and see where there are differences among them and whether or not all the differences (or a specific difference alone) can account for why the disease occurred.
The more samples they have, the easier it is to figure out. And when you can understand why a disease occurs, you can then start developing a cure for it.
That's why we exist. We want to expedite these cures. We'll need your help to do that.
So really, it is in our very best interest to help researchers by providing our samples to them. Researchers do not need our names and personal information -- they just need the samples and to know what kind of disease or conditions you have now or have had in the past. In fact, they also need a lot of DNA samples from healthy people, too. Otherwise, what are they going to compare the DNA with different diseases to?
One easy way scientists can get our DNA is through our saliva. We have our DNA everywhere in our body -- including our spit! So providing saliva samples to researchers is just about equal to providing them with your DNA sample. And at DNAsimple, we'll do everything in our power to make sure that your contributions go as far as they possible can.
Want to help us make that happen?
Sign up here if you haven't already!