Long overdue

     Since Eli was born it has been a little...okay, A LOT busy for us. I have been terrible at updating because frankly I just don't have the time.  Work full-time + two kids, 1 with special needs + college + Lane and I having opposite work schedules = NO time   :-)

     Anyway, over the last few months Lane and I have been working on getting everything together pre-approval etc to build a house on a piece of property that we bought back in March. This 'said' house was going to be a 3300 square foot rambler, accessible for Noah. After going through months of paperwork, finalizing the plans and getting bank pre-approval we were ready to move forward.......until right before we go to finalize our construction loan the bank realizes they messed up. Long story short we need some documents that we can only get once our tax return is back for the 2013 tax year. So now....'said' house is no longer an option. Since talking with Lane and the fight that we have had trying to get this done, neither one of us feel that God wanted us to build this house anyway. It just so happened that I was looking at bigger houses to rent because currently we have no room and Eli needs his own bedroom as he is sleeping in his crib in our room, which isn't cutting it any more. As I was looking at listings I found a lease option house that I really liked....which sparked a new idea....lease option. We could get in a house and then get financed when we have our needed documents! We went and looked at the house and we fell in love. We put in an offer which the seller accepted and now the house is ours!! All our bedrooms are on the main floor with more rooms in the basement....It will be perfect for Noah, the kids will have a playroom and no more up and down stairs!!!!!!! We are ecstatic! Merry Christmas to us...we are so BLESSED!

New House  : )

    Yesterday we had Noah's routine SMA clinic appointment. He had a PT evaluation, Saw Dr. Swoboda and had an EMG and then DEXA scan.Needless to say it was a very long, rough day for him. He was sedated for the EMG and when the drug was wearing off he cried for about two hours straight....not a fun experience. The EMG showed that the disease is still progressing but not rapidly, so hopefully slowing down. In the next few months we are hoping he will plateau and stop losing function. His bone density of course is worse....but all in all it was a good appointment and it was all an expected outcome of SMA. He is doing well considering. Over the past few months since his birthday his cognitive development has flourished. He is talking like crazy and his personality is really shining through. He is so intelligent and so loving. He really does brighten the day.

Update on Eli.....at his 4 month appointment our pediatrician referred us to a plastic surgeon because the poor little guy has a very flat spot on the back of his head from the way he was positioned in utero. The plastic surgeon said on a scale of 1-4 with 4 being the most severe....Eli is a 4. So, a few days later I took him and we had his head measured for a helmet. The helmet will allow his head to grow in areas that it needs to, it's really actually cool how it works. Anyway we should be getting that next week. We will have to build him up to wearing it for 23 hours a day for an estimated 12 weeks. Hoping it goes by quickly...we got it in blue camouflage so I'm sure it will be adorable on him : )

That's all for now, we hope everyone has a very MERRY CHRISTMAS! God Bless!!!!




   

D-day Anniversary #1 9-29-2011 Our Story and Thoughts (By Lauren)

Noah was born October 4, 2010 after 2 years of infertility treatment. What a blessing he was and still is 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/several ear drum ruptures) 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 amazing little boy, that is full of life and enjoys every minute that he is awake. It's hard but we continue to fight the fight...


I wrote that several months ago for another SMA mom to share on her blog....The feelings are still as fresh as the day that he was diagnosed...So much has happened and while I shouldn't focus on the losses it is impossible not to...You have hopes and dreams for your children and in an instant they can all be shattered and lost forever. I am so very grateful that our baby is still here because so many others have lost the battle and become angels. I fear the day that Noah comes down with a serious illness...It's fall and already so many SMA kids are in the hospital with respiratory illnesses.


When I sit back and think about it, it's not even the physical disability....if it was only that Noah was going to be wheelchair bound, I would honestly be okay with that. SMA is so much more than being in a wheelchair....It is losing the ability to swallow and the respiratory weakness that is so terrifying. To think that "just a cold" can take these precious little ones from this world, makes my stomach turn. Giving Noah sips of water and seeing him choke on it is truly heartbreaking. The fighting trying to get him to wear his BiPAP all night, trying different masks and all these things that come with the territory. It's really AWFUL.

I remember how lonely and terrifying it was sitting in the PICU after Noah had surgery last year. We were all alone, no one to visit and comfort us and give us the normalcy we desperately needed. The guilt I feel about having to leave Noah for hours on end alone because I had to work so that I had insurance to pay for this cruel diagnosis. I remember one night in particular leaving the hospital at 11PM and showing back up at 1:45 AM so that I could hold him for a while before I had to go to work. Wow how much we have aged in a year...The stress has been hard on my body.

My mom recently brought up an important observation. We were sitting talking one day....one of my bad days. I told her I didn't understand why people don't get it. Certain people have said why don't you just take a day and go do whatever...I said I don't have time. Our conversation continued on and she brought to my attention that prior to living with us she had no idea what the day to day was like and what Noah's daily care entailed. That was really an eye opener. She is totally right...no one sees what happens in our house everyday and so it's hard to comprehend.

On a positive note, several months after Noah was diagnosed I was added to a group by another SMA mom on Facebook. The SMA community is amazing and extremely supportive. You don't have to explain to them how you are feeling because they already know. Without other parents that have been through the hard stuff from diet to respiratory I wouldn't be the way I am today. Proactive is our way of life...and with SMA it's the only way you can be. The SMA community experiences shared with me have proven to be invaluable and I thank all of them for helping us along the way.

SMA is hard, the emotions run so deep and  this has definitely been the hardest year of my life. In so many ways I have grown and had experiences I never dreamed of. I have an amazing little boy and he is a fighter. SMA will not stop us...we will NEVER give up.
 

The Birth of Eli

Lane and I had wanted to do a natural birth with Noah, but laws in Alabama made it impossible to have an out of hospital natural birth with a midwife. This time around we got what we wanted.

Tuesday, July 3rd started out like any other day. I got up and ready for work. Wednesday's were my weekly midwife appointment days, but since Wednesday was the 4th my appointment was Tuesday instead. So I went to work and then left at 12:30 to pick up Lane and Noah to go to my appointment. When we got there it was the usual routine of weight, blood pressure, measure my belly etc. Becky asked if I wanted her to check me, to which Lane quickly responded with a yes.  :) She said I was 4 cm dilated and 90% effaced. She said that Eli was ready and that it was just a matter of when. She said we may be able to get things rolling if she did a membrane sweep, and so we did. I immediately began to have contractions.

We stopped and grabbed some lunch and then I dropped Lane and Noah off and headed back to work. I got back to work at 2:30 and started timing contractions. I was afraid to get my hopes up thinking this was really it, so I tried to keep the thought of really being in labor to myself. At that point my contractions were not entirely regular. They were between 7-10 minutes apart, still varying in intensity. I kept working although I was a little distracted. I text Lane and told him I was pretty sure that I was really in labor and that I would leave work around 5:30. By the time I left work contractions were 6-7 minutes apart and I was having to stop and concentrate through them. I made it home by 6 and then we went to Red Lobster....Yes Red Lobster while in full blown labor..

We sat down and the contractions continued to get more intense. The whole time I was facebook messaging my dear friend Wendy, who had done 2 natural water births and also has a little girl with SMA like Noah. We had been talking about it for weeks and she was a huge help in preparing me in what to expect. ( Thanks girl, you are amazing!!) As we were waiting for food to come out my contractions were becoming even harder to deal with especially while sitting in a restaurant. Lane asked if he should have them fix it to go and I told him no, I'd be fine. The waitress began to look at me very strangely as I sat at the table with my eyes closed for long periods of time. Looking at me puzzled I told her I was in labor. her mouth dropped open as she stared at me and then asked if I needed an epidural. It was quite funny. Lane and I both laughed and all I could think was where are you going to get an epidural...waitress turned anesthesiologist??? Lane had her bring the check and he paid and then boxed up our food. Then we headed home. On the way I text Alicia (sweet friend and coworker) and told her I needed her to come cause this was the real deal. I asked her to be to the house in about 45 minutes. We got home at 7:30. I made Noah's food for the night and then headed upstairs to cope with the contractions and get his things ready for the night in between them. After I finished I sat on the birthing ball to try to see if it would help. At this point I was fine as long as I wasn't in the middle of a contraction. They grew closer and by 8:00 they were 4-5 minutes apart and painful. I continued messaging Wendy telling her what was going on. I remember telling her I wasn't sure at what point I needed to leave. She told me that they left when she was uncomfortable in between contractions. A few minutes later I was barely able to talk between them. I told Lane to call Becky and tell her what was going on. He did and then got a quick shower. A few minutes later Alicia arrived to take care of Noah.

I then began to cry during contractions, they were increasing in length and intensity. I told Lane to call Becky back and tell her we were on our way. It took me several stops to make it to the car and I don't remember even opening my eyes while in the car. The drive to the birthing center is only about 5 minutes. It was the longest and most uncomfortable car ride ever. When we arrived we pulled up to the back door of the birthing center and Becky met me at the car and helped me inside...very slowly. It was 8:40. Becky started to get things ready and Lane stood with me as I leaned against the counter. I was no longer getting breaks in between contractions. I remember the pain being non stop. All that I could think was that I wanted it to be over. I told Lane that I needed to use the bathroom. Becky told me the minute that I emptied my bladder that the pressure would become even more intense. That was the understatement of the year. After I finished she asked if she could could check my progress. It took me about 5 minutes just to make it to the bed. I got on the bed and it was the most unbearable position to be in. She told me she would check in between contractions and to tell her when I got a break...After a few minutes of no break, I told her to check anyway so I could change positions. I was 8 centimeters. All the things I had read about labor and transition, I knew I was close to the end. Lane helped me up and I got on all fours on the bed and hugged a giant bean bag. Lane put his elbows on my hips for counter pressure which helped tremendously. Meanwhile Becky was getting the birthing tub ready. Once the tub was ready Lane helped me in. The feeling of the warm water on my belly was extremely soothing. I remember with every contraction all I could say was it hurts, it hurts, it hurts. Lane climbed in the tub behind me...

I remember him repeating you can do this, and telling me how great I was doing.

He was an amazing supporter.

After about 40 minutes in the tub I finally started getting relief and was able to talk again between contractions. It was short breaks, but they were very much needed. I remember looking at the clock, it was 9:50. Becky said I could try to push and see how it felt, she said if my body wasn't ready I would be able to tell. I gave one small push....my body was definitely ready. I pushed again and my water broke. I took a short break and began pushing again. It was incredible to feel once I initiated the push my body took complete control and did all the work. It was uncontrollable and I couldn't stop it. Becky told me that if the burning was too intense that I needed to slow down. I told her I couldn't stop. I continued to push as she kept the doppler on my belly listening to Eli's heart rate. He began to get distressed so they put oxygen on me. A few more pushes Becky checked my progress and said she could feel his head. She told me to reach down and feel, sure enough I could feel the top of his head and head full of hair. Another contraction came and I pushed hard, I could feel the burning as he was crowning. Another push and his head was completely out. She told me to reach down and grab him with the next contraction. One more good push and his shoulders slid out as I grabbed him and brought him to my chest. I remember staring at him as I told Lane "WE did it!" Eli was born at 10:06 P.M. 1 hour and 26 minutes after we got to the birthing center.

Lane and I sat in the tub for about 20 minutes before the cord was clamped and Lane cut it. They were going to warm the water for us but in the midst of it all the hot water heater had broke. Thank God I was able to have hot water so I could use the tub. Lane got out of the tub and I stayed in to deliver the placenta. When I was done the birth assistant helped rinse me off and helped me out of the tub. They wrapped me in warm towels and I got in the bed next to Lane and Eli. Lane handed him to me and he immediately wanted to nurse. We got to sit and enjoy him for 2 hours before anyone else touched him.

 They fed us and then did his newborn exam. 6 pounds 9.5 ounces and 19 inches long. Around 2 am we were able to leave and go home to sleep in our own comfortable bed.

This by far is the most incredible, empowering and amazing experience I have ever had. We are so blessed to have been able to do this. We now have two beautiful, awesome little boys.

Been a while...

Wow, it's been an entire month since I posted. Things have been a little hectic but Noah is doing really good. He continues to impress us everyday. This disease is not easy to deal with, but we continue our fight. Not much has changed over the last month except that we have changed Noah's diet. He is now on an amino acid based diet and has had tremendously impressive results. He has had more movement in his legs the last three weeks than Lane and I have seen in almost a year. He is also starting to gain weight better. We couldn't be happier with the results.

 As alot of you have probably seen there is a beautiful baby girl by the name of Avery that lost her battle with SMA on Monday at only 5 months old. She has done an amazing thing for us and all SMA kids. Her dad started a blog for family and friends to keep up with Avery. Little did he know the blog would go viral and little Avery would touch the world and bring awareness to SMA. There is hope and we are hopeful for a cure in Noah's lifetime. Avery's dad created a bucket list, and Avery's last wish was to raise money for gene therapy. As stated on her blog "One of Avery's newest Bucket List goals was to help raise the remaining $365,000 (out of $1mil) needed to bring Dr. Kaspar's SMA Gene Therapy program out of the lab and into her SMA friends.  Dr. Kaspar's SMA Gene Therapy could cure Avery's friends or at the very least offer advancements towards a cure for them." As of this morning $136,000 was already donated. Thank you so much little Avery, and to your amazing parents Mike and Laura Canahuati, who will not give up on spreading awareness!

Please at the very least tell everyone you know about SMA. Awareness is the key. It could happen to you! Please spread the word......

·         SMA is the #1 genetic killer of children under 2. 

·         SMA is estimated to occur in nearly 1 out of every 6,000 births.

·         1 in every 40 people, or nearly 10 million Americans, UNKNOWINGLY carry the gene responsible for SMA. Few have any known family history.

·         SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender.

·         There is currently no treatment and no cure, but the National Institutes of Health (NIH) selected SMA as the disease closest to treatment of more than 600 neurological disorders.

·         Researchers estimate that a viable treatment and/or cure is attainable in as little as 5 years – IF provided adequate resources.

·         The American College of Medical Genetics recommends that SMA carrier testing be made available to ALL couples planning a family, regardless of ethnicity or family history.

Most babies with SMA are born after a normal pregnancy, are seemingly healthy, and pass all current newborn screenings. SMA is a terminal and degenerative disease that causes weakness and wasting of the voluntary muscles in infants and children. Specifically, the disease is caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. As the motor neuron network breaks down, the ability of the brain to control muscles diminishes and with less control and use, muscles weaken and waste away. Simply, SMA eventually impacts every muscle in the body hindering the ability to walk, sit, stand, eat, breathe, and swallow. The mind always remains unaffected and children with SMA are bright, sensitive, and playful in spite of their failing bodies.

Does it ever get better...

I laugh at the title of this entry because if I don't laugh,  I'll cry......

The last three weeks have been nothing but pure hell......for reasons I am not going to discuss on here other than life.....life is brutal....and then here comes SMA to top it off..... Add cruel and brutal and that equals my life. I have always had these thoughts that life can only get better because I have had so much bad and so much hurt (Although I know it could still be so much worse). But instead I get more trials and hurt. Sometimes I feel like God is playing a mean joke....Although I know there is a reason, I just don't understand it. I am past my breaking point....and I keep spiraling faster than ever into the darkness. Alone, helpless, and feeling hopeless.

So back to the real reason for this blog...Noah.

March has been sort of a rough month. Thankfully we are blessed and have not had any sickness, but he has definitely been fighting something off. We have had more than a handful of nights within the last two weeks of him throwing up, needing his g-tube vented, or several hours of constant desats while he is sleeping. It has been one month since we got his bi-pap and we are still fighting to get him to sleep with it on. He seems to really enjoy it until we make him lay in his bed alone. Last night I sat on his bedroom floor and cried as he cried with it on for about 5 minutes. All to take it off of him.....I am at a loss....but we will keep on trying because that's all we can do. The desats have been my biggest concern because he is dropping to the low 80's. Which all points to him needing to be on bi-pap.

Thursday, he had an appointment at Shriner's with an orthopedic. Just a baseline evaluation because we know at some point he will develop scoliosis. But like everything with SMA it's just a matter of when. Inevitable and all we can do is watch and wait. It's quite cruel when you really think about it. Seeing your child's body basically deteriorate right before your eyes. Nothing you can do but continue treatments, go to doctors appointments, wonder how much time you will get with them and watch them get weaker. A lot of  times when we are out and he is in his wheelchair people comment on what strong arms he will will have. What breaks me every time is know he will get weaker and will lose the ability to use a manual wheelchair. What's even worse is when those around you don't take it seriously. So, back to the appointment they looked at his entire body and also did baseline hip/spine xrays, altogether it was a two hour visit. 

Friday, Lane took him and had new AFO's made. We have noticed that the are starting to get tight around his calves and leaving impressions. Since we are in our 90 days period of getting his first set, then he gets a new set at no charge. Woohoo.....

Thursday we are taking him to get his RGO....they will do a test fit and hopefully it will fit well and we will get to bring it home for him.....

That's all the updates for now. Will update when we have more news.........