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.........

No end in sight....but good news on the horizon.

Where to start???  So much has happened and it seems like we aren't even scratching the surface.  What's next?? What new piece of equipment will we have to subject him to next?  Are the close to finding a cure?  WILL THEY EVER FIND A CURE? (This last question haunts me the most, if you can't tell)

Sorry...just a few questions that came running through my already cluttered mind.  Now, on to the most important question...what has our little Noah been up to lately?  It seems as though there is no end to the torture devices that enter our house.  Some are better than others, but they all still point to one evil.....SMA.  I have watched as my precious son continues to struggle more and more.  All I can do is to sit back and watch as this disease continues to take more and more of a toll on his already fragile little body everyday.  As I watch thoughts creep in.  God what did he do to deserve this?  Why is he having to go through this?  Will SMA take the one gift we prayed so hard to You for, away from us?  What will happen next?

Within the last two weeks, it feels like we have been from one end of the spectrum to the other.  Noah's new stander was delivered.  The pulmonologist prescribed Noah a bi-pap machine that we picked up today, after a two hour wait.  Wednesday he goes to get casted for his RGO brace.  A new, additional PT and OT alternate every Monday to come and help strengthen his muscles.  The previous question comes into play now "What's next?"  It seems like more and more is put on Noah's shoulders everyday.  How much can this child take?  Apparently more than his parents.  I know for us, it's not just that he has SMA; it's the fact that we feel like he is being robbed.  Just watching him, you can see he is happy.  It just breaks your heart to watch him struggle day in and day out.  Anyone who has every been in the military or heard people talk about "boot camp", knows that new recruits are forced to crawl through tight spots and muddy trenches, all while being timed.  I would give anything on this planet, even my own ability to walk, just to give my son the opportunities that (right now) he will never be able to experience.  Snow boarding, hiking, rock climbing, football or just about anything outdoors.  It was one of the reasons we wanted to move to Utah.  We did it to give him a better outdoor experience and opportunities.

When Lauren found out she was pregnant, we were both terrified.  Even more questions flooded our already overwhelmed minds.  Will baby Eli have SMA?  If so, what type?  If Eli doesn't have it, will Noah resent him/us?  What, when, where, who, why?  So many questions and it seems like very few answers.  That was until February 21, 2012.  We finally received the news that we had been waiting for weeks to hear.  Baby Eli does NOT have SMA.  Now we just have to sit back for a few years and see how things go with Noah.  Hopefully, one day soon, we will be able to put a post on here that says Noah has been cured of SMA.  Until then...all we can do is hope, pray and educate.






                                          New Stander

                                       First time in Bi-pap mask

Not in the mood....

I have been terrible with updates lately....and quite frankly I just haven't been in the mood to do it. The exhaustion and emotional wear and tear is getting the best of me...

So I have a lot to fill in.....

Noah was evaluated for his own stander on January 17th and it will be 90 days before we get it but thankfully we have the loaner to use....The weekend of the 21st he came down with Croup, which was very hard on him and his little body. We took him to the pediatrician Monday the 23rd and they gave him some steroids and he kicked it in a few days...it was horrible watching him struggle to breathe though.

I have been working on adding some additional PT to the EI that Noah gets 2 times a month because he is not getting the therapy he needs. We are doing his stretches but he is starting to get tight in some areas and needs extra work.

Monday the 30th we had the amnio...it was definitely not what I expected and much more painful. We first met with a genetic counselor and signed consent forms and she explained the procedure and how long everything would take. After they take the amniotic fluid they send it to the lab and separate the fetal cells and grow them in order to get enough to test. The chromosome analysis results will be back in about a week and the SMA portion will be sent to Seattle Children's Hospital and we should have the results in about 3 weeks. After talking with the genetic counselor we were taken to a room and I had a detailed ultrasound. We found out that Noah will be having a little brother. His name will be Russell Eli Hyche (we will call him Eli though). Noah was very protective and Daddy had to get him close enough that he could hold on to my arm. As long as he was touching me, he was fine. Silly boy...he knows about all the poking and prodding from experience...After they looked at baby Eli's anatomy, the ultrasound tech took the images for the doctor to look at. We waited for about 15 minutes and then the doctor came in to do the procedure. They scrubbed my belly with iodine and then with ultrasound guidance inserted a long needle just below my belly button. The initial poke wasn't too bad but the needle going through the uterus was painful. The fluid was retrieved, needle removed, and then they checked Eli's heartbeat which was fine and then sent us to the lab for me to get blood drawn to send with the sample. We went home afterwards and took a nap with Noah. Exhausting day to say the least....

The following day January 31st, was Noah's appointment with Dr. Swoboda/Sakonju. When we got there they weighed and measured Noah (19 pounds woo hoo). We then met Abby and she began to take us to a room, but we had to make a pit stop per Abby so Dr. Swoboda could watch how awesome Noah is doing in his wheelchair. We went to the room we are usually in and were met by Dr. Sakonju. Since Noah had just gotten over a respiratory illness they recommended not sedating him for the EMG since it slows respiration. They did it on us both first so we could see what it felt like. It wasn't painful just uncomfortable but we decided to not sedate him with Versed this time. They placed two small electrodes on his right hand and then shocked his wrist to check his motor neuron levels. This time he was actually a little stronger then he was back in October. Not much but we will take it. He didn't like the procedure but daddy turned some music on and he "danced" and got through it like a champ. We were proud of him. After they finished we discussed some different medications to possibly try. We will be talking about this more later and will make a decision. By the time we got home Noah was exhausted and so we put him in bed and both of us went to work.

Yesterday February 1st was Noah's PT evaluation with Donata. I was looking forward to this to see what other therapies etc we need to look into. Donata did her regular routine of checking his range of motion, looking for contractures and looking at his overall strength. She was impressed but he does have a lot of weakness in his hips, back and legs...which we already knew. She got an idea to try something...she put together a make shift leg immobolizer and put on both of Noah's legs and got a pediatric walker to see if he would hold himself up. He wasn't able to...but we moved him over to a table and let him use it as a support and we saw our baby boy stand on his own for the first time in 9 months. Amazing. Donata is very positive and thinks that possibly with the right braces we could get him to stand/walk. Not so sure about that but I know we could at least get him to stand because we saw him do it yesterday. He was very excited and laughing too! He actually tried to pivot and take steps....She will be getting Noah a HKAFO (Hip Knee Ankle Foot Orthotic). This will give him support in the hip area, hold his knees in place and allow him to stand. She is also going to meet us at a pool one weekend and teach us how to do pool therapy. (There is no place out here that does pool therapy on children) We are excited though because this will allow us to be involved in his therapy a little bit more and save some money as well. Plus Noah loves being in the water.....She is also setting up an OT and PT that are experienced with SMA for us to get private therapy. What a productive day!

That is it for updates for now as we continue on this journey...Thanks for all the prayers and support...We will update when we have more news...

Wanting to feel that joy....

This pregnancy is so very different than with Noah.......I long for that joy and happiness I felt while I was pregnant with him. That joy and happiness I feel has been sucked out of my soul......

With Noah I did everything so different and looked at things from a completely different perspective. This time the thoughts and feelings about the upcoming weeks, the amnio, the results are so etched in my mind that I am unable to separate them from everything else and enjoy the gift, beauty and joy of pregnancy.

I long for the day that I will find peace and comfort. I so badly want to believe that this baby will be okay. I feel like I did everything perfect with Noah and it failed. Even though I know the ins and outs of SMA and there is nothing I could have done while pregnant to help, I still feel that I could have done something different. This time I know the risk and possibility that this baby may have SMA. It kills me and the anxiety of the wait is wearing on me.

I just hope for the next few weeks to pass by quickly so I can know what to expect and move on....

Yet again....we wait.....

New year...new fears

Over the past few weeks we have had a huge problem getting Noah to handle his nightly feeding at his normal rate. We have had to significantly reduce the rate on his feeding pump to the point that he was not finishing all of it at night. We were also noticing at night while he was in a deep sleep that the alarm on his pulse ox machine would go off. His heart rate was jumping to 195.....then it would drop as low as 85. I called Abby, Dr. Swoboda's nurse on Monday and she gave me some possible explanations and solutions. He could be fighting a bug, his stomach may not be emptying as quickly all of the sudden and the list of possibilities goes on. So we dropped the rate down even lower. Tuesday night I quickly discovered the problem. After Lane gave him his bath, I had him on the changing table dressing him and I noticed he kept digging in his ear with his finger. Sure enough when I looked, I saw a very small amount of drainage. So a double ear infection plus four new teeth have been the culprit to our problem. I am thankful we got it figured out and now he is back up to his normal rate at night.

Yesterday, we finally got Noah's wheelchair and AFO's. We were unable to meet with the vendor for the stander again. We are scheduled for that on January 17th.


We took him out and about in his wheelchair for the very first time. As we sat in the waiting room, we watched Noah as he wheeled himself about. I was so excited to see him explore and at the same time it broke my heart a little more. These mixed emotions are so draining..... Will it ever be ok?? Probably not.....After we finished we went to a few stores, it was somewhat hard having strangers stare and ask so many questions...

While I was on the phone with Abby I also asked her about Noah's regression...I asked if maybe it was the added weight that was making it harder for him or if he is just getting worse. Lane and I have noticed he tips over more often while sitting and he has a much harder time pulling himself around. She said that they would like to see him at their next available appointment. So, we will see Dr. Swoboda on January 31st instead of the original scheduled appointment in March. Oh goody....There are a few drugs that have worked in SMA kids that have increased their strength. The risk may be worse than the benefit (everyone reacts a bit differently) but this is something we will discuss and decide at that visit. We will continue our fight......