Benson's Story

Benson was born at 38 ½ weeks gestation.  It was a completely unmedicated, natural birth.  He was healthy and beautiful.  We requested to go home early and were released from the hospital just 24 hours later.  Benson was 6lbs. 15oz. at birth.

Birth day

After just seven weeks, he had gained four pounds!  He was growing like a little weed.  The nurses at the pediatrician’s office joked that he was soon going to be bigger than his older sister, who is just 16 months older and on the small side.   

Benson, 2 months

Looking back, there were a few indicators of problems long before we realized it.  They were subtle, like a small decline in his seventy-fifth percentile growth.  Then there was that time I held a friend’s baby, who was the same age as Benson; and thought, this baby is really rigid, I like how cuddly Benson is. He hit all his milestones within the range of average.  At eight months old he started commando crawling.  We called it his wounded soldier scoot because he didn’t use his legs, at all.

Benson, 9 months

 I started passively looking for answers at around nine months.  We talked with the pediatrician, asked friends, google.  He wasn’t pulling up to stand and was still scooting without using legs.  At 12 months, with no progression in his gross motor skills, we took him to a different pediatrician for a second opinion.  This pediatrician estimated his gross motor skills to be at about a 6-9 month developmental age.  At the time, this was shocking.  We were still in denial about how much strength he was lacking and absolutely nothing else seemed wrong.  The doctor recommended we either 1)see the neurologist 2)start physical therapy, or 3) wait and see if he catches up.

Benson, 12 months

In October of 2011, my husband and I were talking about possible diagnoses and I had the profound impression that something WAS wrong and I needed to do something now.  The next day I scheduled an appointment with the neurologist and contacted Early Interventionto get physical therapy started.  I called the neurologist in October and the soonest I could get an appointment was January.

November was a rough month for me.  I spent countless hours researching, googling, and reading the same things over and over.  Praying for an explanation other than a neuromuscular disease.
In January, we went to our inital consult with the neurologist.  My parents came with me since my husband was unable to get work off.  The doctor mentioned SMA but recommended NOT googling it.  I actually listened for once.  We were scheduled for an EMG three weeks later.

At the EMG, it showed that Benson was a classic case of SMA.  The nerves responsible for sensation were responding appropriately but the nerves for motor skills were not.  The doctor still would not say it was SMA for sure.  She wanted to do genetic testing to confirmthe diagnosis.  The results came back about three weeks later, positive for SMN1 deletion.

The peak of Benson's strength was at around 12 months.  Since that time, he has been gradually losing more and more.  We are doing our best to keep his losses to a minimum.  It feels like it is a constant battle against time and a nasty invisible disease.

There is a light inside Benson that draws people to him.  He is a handsome little guy and a charmer.  I have no doubt that, despite the physical limitations he may have, he WILL do great things in life.

"Embrace The Suck"

To follow Benson's blog click the following link http://lynetteandjon.blogspot.com/2012/08/bensons-storya-post-for-friend.html

To make a donation to help save Benson and his friends go to www.sophiascure.org/donate

Hope for Jenna

I married the man of my dreams in 2004! We found out we were pregnant soon after our honeymoon and we were so happy! We have a wonderful son and he just turned 7! We hoped to have three children and were relieved when I finally got pregnant again. However, our dreams were destroyed in 2008, when at five months pregnant our son was born. He lived for one hour. He died from a birth defect incompatible with life ( not from SMA). I didn't think I would survive the loss! After two years and infertility drugs, I finally was pregnant again. We felt lightning had already struck us, so we were so hopeful that this baby would be healthy. She was watched very closely and we were told everything was going to be ok this time. I didn't believe them until I had her safely in my arms! Our girl, Jenna Hope Eichenlaub, was born perfect August 2010! We were elated! We had to make her middle name "Hope" because she restored our hope that our life was on the mend! She seemed so strong! She would hold her head up, sit up, and roll. She got up on her hands and knees and would rock back and forth. We just knew any day, she would be crawling! We waited and waited but that day never came! The doctors said it was just hypotonia and could be fixed with physical therapy! After 6 weeks and no improvement, we saw a neurologist. He said she just needs physical therapy! We went home happy that our fears were unconfirmed! Our girl was just content to sit and play, we said. She'll crawl when she is ready. Then, she could no longer raise herself up, she would fall over when sitting, and couldn't get up on her hands and knees! I was really scared! The neurologist said, "I think she has SMA. "It will take a week to find out and go home and look it up on the Internet." I thought he was crazy! How could she have a genetic inherited disease?! No one in our family has SMA! Plus, he had already told me he thought she had a metabolic disease and he was wrong about that. So, we went home and researched SMA! The more I read, the more I knew the test was going to be positive! It was a terrible week! I couldn't eat or sleep. I just cried! I waited 6 days and then finally called the neurologist. (the test was supposed to take 7 days). He told me the results. At 18 months old, our beautiful baby girl was diagnosed with SMA type 2. He told me as I was crying and grieving for my girl, " it could be worse." I realize now he was right but at that moment I didn't want to hear that. I was just thinking of all the things my girl wouldn't be able to do and how hard her life was going to be. A few minutes after that terrible call, I received a call from Children's Hospital. They said they wanted to see us the next day. They gave us our hope back. They told us that Jenna could still have a productive life and be happy. They introduced us to a family whose son was 7 and he was zipping around in his Standing Dani! We knew right then, our girl's life wouldn't be what we expected but that we were going to do everything possible to keep her as healthy and strong as she could be. We are so blessed to live in a community where people care about each other! My coworkers have had fundraisers for Jenna! Strangers have donated money! And because of those generous, caring people we were able to buy Jenna a Standing Dani! She can't walk but she can sure go fast and likes to feel the wind in her face! She is a very happy little girl and such a blessing to us! I love her so much! I hope every day a cure is found!!

"Embrace The Suck" 

To donate and help fund a cure for Jenna and her friends. Please visit www.sophiascure.org/donate  What are you waiting for/ 

Noah :)

The next story is written by, what I would consider a dear friend, Lauren. While I've never met this family in person, I feel like I've known them forever.. I'm honored to introduce to you Audry's boyfrannnn [long distance of course ;) ] Noah Hytch.


Noah was born October 4, 2010 after 2 years of infertility treatment. What a blessing he was to Lane and I, beautiful and perfect in every way. At 7 months old I had to return to work, so Noah was put in daycare. He ended up a few weeks later very sick. Within 2 weeks of that illness he was no longer able to stand or bear ANY weight on his legs. He also stopped eating well. Our pediatrician was more concerned with the diagnosis of failure to thrive then lack of weight bearing...she said he was just being lazy....So for the next month we concentrated on that diagnosis. We saw a gastroenterologist who thought he had cystic fibrosis. I knew that wasn't possible because I had the carrier screening while I was pregnant, so at that point they set us up to see a nutritionist. One week from seeing the nutritionist and Lane lost his job. We had wanted to move to Utah, to me it is home....So Lane applied to some jobs in Utah. A week later he was on a plane headed for an interview. He got the job and we moved cross country just 2 weeks later. Once we got out here I set Noah up an appointment with a pediatrician to continue on our failure to thrive journey. We were blessed to have been led to such a great doctor. She was extremely thorough and I watched carefully as she checked him out inch by inch. You could tell she was very concerned. She checked his reflexes and they were absent. At that point I knew something was very wrong with our little miracle. She didn't say specifically her thoughts but referred us to an ENT (chronic ear infections) and a neurologist.

The following week I took Noah to the ENT and the decision was made to have ear tubes put in. I started my new job 2 days later so Lane had to take him to the neurology appointment. It was September 29, 2011.... I was very anxious the day of that appointment....around 11:00 I got a phone call from Lane. I was unable to answer because I was in training so he left a message for me to call him back. I could hear in his voice that the news was bad. I cried before I even talked to him on the phone. Once I collected myself I made the call. Lane briefly explained what the doctor had said which was she was sure Noah had what is called Spinal Muscular Atrophy. I lost it...I couldn't breathe, I couldn't speak...I sat in silence.

I only knew what SMA was because after seeing the pediatrician I got on the internet and was searching for every possibility. I had it narrowed down to 2 diagnoses. Cerebral Palsy and SMA. Never before had I even heard of SMA.....Now my worst fear was confirmed. We were told that we would be called with the results of his blood test in two weeks. Only 6 days later I got the call from the neurologist, the day after Noah's 1st birthday, the blood test was indeed positive for SMA.

It has been a hard road, he uses a feeding tube to eat and relies on many other machines to keep him healthy. These machines that I hated in the beginning I am thankful for. They keep my baby strong and healthy.

I never imagined that this is the path in which we would travel, but I will say I wouldn't have it any other way. God has blessed us with an angel that is full of life and enjoys every minute that he is awake. It's hard but we continue to fight the fight...

FIGHT....CURE SMA!!!

"Embrace The Suck"

To follow Noah's story you can visit their blog at www.OurSMAjourney.blogspot.com

Allegra, Age 20, SMA type 2

Hello, my name is Allegra Keys and I have Spinal Muscular Atrophy type II. For those of you reading this blog I’m sure you know what that is by now. I’m a really weak type II so over the years I’ve lost everything from my smile, the ability to swallow (been g-tube dependent since I was 2), and the use of my arms. I have nurses on the on weekdays 7am-6PM, I sleep hooked up to my bipap and food at night, I’m orally suctioned several times throughout the day, and I have the limited use of my right hand to drive my chair, operate my iPhone, and use my computer. It may not be much but considering I’m 20 and the prognosis was 2 I’d say I’m doing pretty good.

I was born in 1992 and at first everyone thought I was a normal baby. But I never rolled, crawled, walked, or tried to bare any weight on my legs. The doctors kept telling my mother that I was just lazy. Finally on my first birthday I was diagnosed with SMA. Not much was known about the disease then and my mom didn’t have the internet to do research. They tried to convince her to trach me but she wanted me to make that decision and to this day I’m still trach free. She started up the families of sma support group for Washington and ran it completely by herself for 7 years. During that time she got all her information from the quarterly fsma magazines and conferences. She forced the doctors to put in a feeding tube because I was malnourished (when I was eating it took so much energy that I was burning off all calories). After I had come off life-support successfully several times when the doctors said I wouldn’t she looked up non-invasive venting as was recommended by Dr. Bach back east. She had to fight with doctors over here to put me on a bipap because at the time they weren’t using them on kids my age and as far as we know I was the youngest person in the state of Washington to be sent home on a bipap.

To say that I absolutely love everything about my life would be lying, like most people I have my ups and downs. When I’m feeling down though I remind myself of all the people I have know who have lost their battle with this disease and I am blessed to be here. I remind myself that here, in Seattle, I have my mom and my younger sister plus my few great friends to support me. It may not be everything I wanted but it’s enough.
I made it through K-12 with about 4 major hospitalizations. And with my IEP I didn’t have to be in special ed. Luckily I was able to always keep my grades up. All throughout high school I was in the drama club, I was a journalist for the high school newspaper, and I was a part of the Black Student Union. I went to a few of my dances including senior prom even though I went alone. I graduated high school in 2010 with honors and was accepted to every college I applied to. I decided to go to UW Seattle. We couldn’t figure out how to arrange 24 hour caregivers so I stayed living at home. I soon discovered that UW was not the school for me. I just never felt welcomed because not one person ever looked at me or tried to talk to me. Long story short I was stressed out and making myself sick trying to do something I was not enjoying. I did that for a year and ever since then I’ve been doing online school for freelance writing. My goal is to become an international bestselling author one day. I know that’s ambitious but Stephen Hawkings isn’t the only person with a disability that can be someone big. The world needs to know that despite common misconceptions not everyone with a disability is is sitting in their homes waiting to die.

I try to just do things that I enjoy now. Life is too short (for anyone) to be stuck doing things you hate. I read, write, go to movies, hang out with friends and travel. Traveling is my main passion. It’s a little more difficult when you’re in a wheelchair but it’s worth it. It is something I plan on doing as long as I’m healthy enough to do it. My sister and I are actually going to Miami and Puerto Rico by ourselves at the beginning of September.

"Embrace The Suck"

Well that’s my story. Feel free to add me on facebook https://www.facebook.com/allegrakeys
To donate to help end Spinal Muscular Atrophy, please go to www.sophiascure.org/donate

A Real Treat, Brandon Clearly Embodies the "Embrace The Suck" Tude.

My name is Brandon, I have Spinal Muscular Atrophy, which is a form of Muscular Dystrophy. 

I was diagnosed around the age of one. I had my first wheelchair around the age of two and got my first powered wheelchair at the age of three! My mom didn’t let the power chair in the house till I was a lil older cause she didn’t want holes in the walls, haha. So right there at a young age I always wanted to go outside because I knew I could drive my wheelchair and feel independent. There were a lot of kids around my age in the neighborhood so there was usually always somebody wanting to hang out or we’d be going up and down the streets just being kids. I was never really sheltered from anything which to this day I am so thankful for because I know so many people in my situation that could have had so much going for them if they just would’ve been given the chance. If there was something I wanted to do between my parents and my friends we would find a way to include me so there was never any feelings of being an outcast. I had to go get a spinal fusion around the age of 8 because the curvature in my spine was so bad that it was crushing my lung. I was out of commission for a few weeks while I recovered but never looked back from there. I went to the same elementary and middle school as all my friends I grew up with, but when it came time to go to high school, there was a slight problem… The school I was supposed to go to and that all my friends went to was not wheelchair accessible. That was the first time I ever worried about if I was going to fit in because I had been around most the same kids all my life. Freshman year was kind of a weird year for me, I got into some things that most teenagers get into and was being a typical teen. After almost failing 2 classes freshmen year I came into Sophomore year a new person and went back to my roots of being Mr. Social, I met a few of my best friends to this day that would do anything to help me out. Then about half way through the year I came across a girl I couldn’t resist talking to!

We clicked instantly and the rest is history… We have been together for 10 years now and have a beautiful daughter who is almost 2! We always wanted a kid but never pursued because I didn’t want to pass the MD down, but after some genetic counseling we realized our child would only be a carrier and not have the disease. So we tried and tried for almost 2 years and next thing we knew she was pregnant. I now have a beautiful daughter, who is definitely the fuel to my body & heart! I think of her every day and that keeps me motivated to stay strong and continue to fight the fight that I’ve been challenged with. Yes I’m getting weaker, and yes I need more help as time goes by, but nothing has stopped me from being happy and living my life to the fullest I can. When the time comes to worry about a feeding tube or a trek I will think about it then but for now I just live the only way I’ve ever known.. Until the day my heart stops I will push hard and be there to support my family any way I can.

***

As an SMA parent, friend or family member, we always question the future. Brandon opened himself up to one of our support groups. A little something I like to call 20 questions. He said ask anything. Here are few exerpts from the conversation. While it confirmed alot of what we know to be true it also gave us hope. Hope that our kids will grown up. 

When asked about progression of the disease he responded with 

Oh ya I've gotten a lot weaker... I use to be able to climb down from my wheelchair when I was in 1st grade, and things just slowly have gone away... I've learned to manage around my disability to help me keep my independence... I actually moved out the day I turned 18.. My mom hated me for it for a while but once she got past the part of her baby moving away and realized that I was living my life to it's fullest she is happy & proud. I am slowing getting to the point where I could use a feeding tube or a Trech is also a very possibly thing I'll have to get if I get severely sick again. I am a don't fix whats not broken type of guy so I am going to wait till its a necessity. I can move my arms fairly well but I cannot actually lift them up off my arm rests. Childhood was honestly no different for me than it was for anyone else, besides the fact I relied on my parents getting me in and out of bed.. I was always rolling around the neighborhood with my friends or having sleepovers etc. I was very accepted in school, it's all about how you present yourself... There were still a handful of bully's but my friends made sure that didn't last long lol. 

When asked abouts his wife-- met my wife in high school, she was a gymnast and took 8th place in the region of like 7 states. So it worked really well to have someone that was built strong so she pack me around... Her family was all so accepting of me, it was awesome. High school was fun, I didn't do any college but I still might go in the future. Best thing is to let Autumn be as free as possible because happiness leads to healthiness in my eyes.... If she is happy and has something to fight for it changes everything. Ever since I had my daughter I don't even feel like it's a possibility for me to leave this world, although I know that's not how it works... 

When asked about siblings, as his feelings toward not being able to walk, as well as getting around. Also touched on his daughter. Nope Never angry or animosity towards anybody... I really feel that there's a huge difference between being born into something rather than having an accident or something... When you're born into it, that's all you know. I do have a half sister that's 15 and she is not a carrier or anything, she has a different mom. Yea the bus system here is pretty good, and I always have my chair that can get me the rest of the way after I get off the bus. We also have a van that we use, I usually only take the bus when I'm doing things by myself. I wouldn't rush on doing everything for because I feel it's important to treat her as a normal child, because you don't want it to get into her head that she can get anything she wants.. That's just my personal opinion though. As far as my daughter goes, we only had her because we knew she wouldn't have the disease. We did genetic counselling beforehand. She is a carrier and we are going to have to be open with her so she knows the risks before getting sexually active. I like to think of it as a free but great form of birth control. lol. If my wife would have been a carrier than we decided we would adopt. 

Favorite therapy: Ya water was pretty much the only thing I enjoyed that helped. 

When asked about..err um.. Potty use ;)  usually for the restroom I can help myself with my urinal, I just make sure it's in reach. And if I need to do other business lol I can call my dad who can usually be there quick or my wife has a hour lunch break she can come home and help. Sometimes. I just have to hold it but that's the price of independence I guess. 

"Embrace The Suck"

To donate and help find a cure for Brandon, Audry, and the rest of the SMA kids. Please visit www.sophiascure.org/donate

Owen's Story

After having two completely normal pregnancies and two very healthy active babies I was not worried about my third one. This pregnancy was normal up until about week 32,where I caught brochitis and a sinus infection, this lasted until about week 36, when I ended up with obstetric cholestasis (your liver produces to much bile, causing extreme itching)they induced me at 38 weeks, and I had a very long  40 minute labour. Owen was born on June 24, 2011 at 7 lbs 15 ounces, he was a very healthy boy with no problems, we were very happy. What more could you ask for than 3 beautiful healthy kids? A day after this I ended up in extreme pain and I figured it was because I had lost a lot of blood during the delivery, but I ended up with a uterine infection, then a couple weeks later postpartum hyperthyroidism. I remember thinking I am so happy all this has happed to me and Owen is healthy.

When I was finally over my illnesses, Owen was about 6 weeks old. We started noticeing he never would bear weight on his legs like Katie and Liam used to. We waited thinking he was just lazy, then Katie started school in September, and te colds started every 3 weeks he had a cold and they would last forever. We just thought it was all the germs Katie was taking home from school. By 4 months Owen still wasnt bearing weight, and his grip wasnt very strong either. He was able to roll from front to back, but that was it. He could hold up his head a little, but not as good as the other two kids could. We took him to the pediatrician who immediately ordered blood work, and xrays. Those were pretty good, his creatine was a little high but they said that was normal. Meanwhile at around he turned six months, I started taking him to physio for his hypotonia. At seven months we took him to another doctor who could not find any reflexes. This whole time we had a feeling it wasnt just hypotonia, when you look up hypotnia it comes up with a lot of different diseases: Muscular dystrophy, SMA(it can't be this we had thought he eats fine, and his breathing is good), central core disease.... When they couldn't find the reflexes we started to know its SMA. WHen we met with the neurologist in March he did the nerve and muscle tests, and then the blood test and sure enough SMA was diagnosed on March 11, 2011 (Dday)

That was the worst day of our life, all the doctors said was there is nothing we can do, he will get worse very quickly and will not live past two. They diagnosed him as a type one, but he is now learning to sit and his breathing and eating are still fine so they are changing him to a two. Owen continues to amaze us each day, he is always smiling, laughing, and playing. He loves everyone he sees, and just babbles constantly. He is my little hero, and every night I pray for him to be healthy, and a cure to be discovered soon so he can be healthy and, run and jump and play.

"Embrace The Suck"

To make a donation to help Owen and his friends, please visit, www.sophiascure.org/donate

Blakey Blue

 While it sounds like your reading Audry's bio, it's actually another little girl from Ohio. Today I introduce Blake Leigh Farrell.

Blake was born December 1, 2010 in Cincinnati, Ohio. Her first smile was during those first days in the hospital, and she has not stopped smiling since. She loves people, animals and especially her big sister, Finley.
Blake began to show signs of mild hypotonia (low muscle tone) around her first birthday. We began a series of evaluations and tests in December, and in January it appeared her gross motor skills were regressing. Much to our dismay, Blake received a diagnosis of SMA type II on Febuary 6, 2012 at 14 months old.

For those of you that do not know our sweet "Blakey Blue" or "Bumble B", she has the most amazing spirit. If I could describe her in one word it woud be HAPPY! She is the most loving, funny, easy-going baby I have ever seen. People flock to her wherever we go, and the light inside her is contagious. Although this diagnosis has been heartbreaking, we are hopeful, determined, and know that God blessed her with her spirit so that she could conquer this disease.

"Embrace The Suck"

To follow little Blake you can go to her website http://www.caringbridge.org/visit/bumbleb
As always if you want to donate us and help Blake and her friends please go to www.sophiascure.org/donate