Welcome To Holland

Found this today and wanted to share. For everyone who wonders what it's like to be a parent to a special needs kiddo...

I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this…

When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome To Holland”.

“Holland?!?” you say, “What do you mean “Holland”??? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy”

But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.

The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.

So you must go and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…and you begin to notice that Holland has windmills…Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy…and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes that’s where I was supposed to go. That’s what I had planned”.

And the pain of that will never, ever, ever, ever go away…because the loss of that dream is a very significant loss.

But…if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things…about Holland.
by Emily Perl Kingsley

"Embrace The Suck"

Phllip SMA type 3

During the year of 2008, we didn't know Phillip was affected by SMA III. Throughout the whole year, my mom notices Phillip having difficulty going up the stairs; we also noticed that he was getting tired easily and he was falling a lot...So, after various doctors appointments and a biopsy...I received the worse news a parent can have and that is when the doctor say, "Your son has a muscle condition called Spinal Muscular Atrophy; he will lose his muscle strength." When I heard the news, I felt like my whole world was collapsing...I needed not to cry because Phillip was sitting next to me...I needed to be strong for him and I did it. On the day that we were told he had SMA, I decided that I will fight and continue to fight for him...I decided that I will do anything in my power to keep his faith strong...I decided that we were not going to give up and I was going to make sure of that. My family and I have been struggling with his condition but the beautiful thing is that WE ARE NOT GIVING UP.

This past year, Phillip's condition has been progressing and he has been having good and bad days...On his good days, he is a happy boy who doesn't have SMA and his bad days, he is a boy that is unable to move and therefore he has to be on his wheelchair...Phillip still learning to deal with his SMA; he is starting to talk more about SMA ...

We have created a page on Facebook so people can get to know about Phillip...He writes posts about his day and about how SMA is affecting him....We want to do our part to raise SMA Awareness...We need to let people know that SMA exists and there is no cure...but soon...God will bless us with a cure...

"Embrace The Suck"

To make a donation to help Phillip, and others like him please visit www.sophiascure.org/donate today! 

Deirdre Valeria Medina-Rivera, our Diva! There are no expiration dates!

Deirdre was born in San German, Puerto Rico, in August 17, 2007. Our diva was a beautiful, healthy baby that was all grown, with a beautiful mane of hair! She proved to be a very serious baby that only showed a hint of a smile when food was in the horizon... or her Godfather. Everyone was surprised by her big blue-green eyes, and her very serene demeanor. She made a raspy noise that called Mommy's attention, but the pediatrician said that it was something normal... The concern grew along with her lack of strength when holding toys and still we were assured that she was fine, just a “ late bloomer”. Deirdre's name means " Lady of sorrows" , and it is from a Celtic legend. Her second name is Valeria, meaning " with valor and courage". Her name describes exactly who she is... She faces the sorrow of having SMA, but she is quite a warrioress who holds valor and courage in everything she do and accomplishes.

She was baptized, and enjoyed her first Halloween and first Thanksgiving. But when December 17, 2007 arrived, just when she turned 4 months old, Deirdre had a respiratory arrest that landed her in the hospital with a collapsed lung and both lungs filled with fluids. That day I had run errands with her, and she was alone with me in our house in the countryside of Hormigueros, PR... I had placed her in bed, and something told me to check on her. As I held her up her eyes rolled up and she became completely limp. I brought her back with four big breathes, placed her in the car-seat and drove to the nearest clinic... It was a 30 minute drive that seemed eternal to me... Upon arrival the ER crew thought the baby had choked on milk and that I was overreacting. When they saw she was blue, then they moved... And transferred us to the pediatric hospital in our hometown, Mayaguez...

Doctors said she would not live, and they did not know what else to do with her... She had draining tubes on her chest, and oxygen... but she showed little improvement. Our whole world stopped... and hope was very thin... Christmas Day arrived, and all we asked for was simply for our baby to live. We were very grateful to God for granting such a wish... Miracles happen everyday, at every moment... People should become more aware of that simple fact.

In January 2008 results came back from the lab and confirmed that Deirdre has Spinal Muscular Atrophy Type 1, Werdning-Hoffman... We were devastated... That night we sat down to internalize everything, what the diagnosis meant, how helpless we felt... I wrote everything that had transpired in Deirdre's blog, a journal that I keep for her since before she was born. For the next days we battled doctors and were asked for decisions we could not make... And then we realized that there were messages in the blog from families from all over the globe... families dealing with SMA. These people gave us answers. We realized it was time to stop the distress and start the action... Crying for our baby would not help her. We understood whatever we were to do had to be done fast.

Deirdre was transferred to the pediatric hospital in San Juan, PR... There, the quest for ctor's help began. In the end we had to go to a place where they understood what to do with SMA patients... We were granted a Catastrophic Funds flight, an air ambulance that would take our baby to Newark, NJ to the University Hospital were Dr.Bach and a specific PICU staff that face SMA everyday would try helping Deirdre... We had been denied 4 times that flight, but we didn't give up... We left our normal life back in the island... friends, work, family, house, car... everything... But leaving everything was the trade-off for giving Deirdre a chance at life. Deirdre was 8 months old when she finally reached New Jersey. And turns out that on the third day of her arrival she was successfully extubated to bipap. She stayed a week in the hospital as they made sure she was fine, and that we were well trained to keep up with her care at home... And our new home became Newark, as we could not go back to Puerto Rico. The island has the technology and the medical prowess to support SMA patients, but the system makes everything hard especially for blue collar workers... Maintaining a PICU environment or equipment at home is very difficult over there, government help is almost absent. And then the doctors egos come into play... Only one pulmonologist in the whole island actually see ventilator patients... a big shame!

The first two years were really difficult. We had no transportation, and Deirdre was in the hospital often. But after she turned 3 years old she started to be more stable. We also cut the parade of nurses that was going on, and kept only two nurses (thus controlling the exposure to outside germs and people who did not know how to handle her). Deirdre started Pre-K at home. Her teacher is amazing and has stayed giving her home instruction for two years now. Deedee just finished her second Pre-K year, and will start Kindergarten next month. During Summer, she gets home instruction in the mornings and she has attended for two years in a row to the Camp Jr at the Newark Museum where she has made many friends and has learned much about different cultures and arts and crafts.

Deedee gets different therapies through the day: physical therapy, occupational therapy, speech therapy... and assistive technology assessments. She uses eye-gaze technology to speak with her communication computer, and uses various switches to activate favorite toys and games. She is currently under evaluation for hippotherapy and aquatic therapy. She loves traveling and has demonstrated interest in animation art... especially the art depicted in Wonder Pets. Apparently she has the artsy streak that her mom has. She is also very fond of nature documentaries, and Disney movies (especially those with strong willed girls like Mulan and Pocahontas). Deirdre is very bright and has quite a strong personality herself!

Deirdre will turn 5 years old next week. Her journey has been amazing, and it gives proof that there are no expiration dates and that where there is a will there is a way. SMA kids can do anything, they just need the tools to do so. We are here to provide those tools, and enjoy the ride. Deedee has made our lives better in so many levels! She touches many lives, and she inspires many to live live to the fullest... and just do things. Dream big, and make dreams happen! SMA cannot stop that.

Deirdre's website is www.DeirdreMedina.com. It is in English and in Spanish, we wanted to share all the information with other families that did not speak English as well as we wanted to raise awareness and share Deirdre's journey. The site is all about Deirdre: Equipment, doctors, pictures, videos... and information about SMA. It links to Deirde's blog, the little journal that saved her life and which we had named "A little mage in the family: Chronicles of a Spellbound Baby" . Wow, our little Deirdre turned out to be quite the sorceress after all! Her magic spreads to everyone who dares to get to know her. Give us a visit, it's just around the riverbend!

"Embrace The Suck"

To donate and help find a cure for Deirdre and all of her friends please go to www.sophiascure.org/donate. Help us end SMA today. 

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