Day 2 update

Yesterday Noah was able to be moved from ICU to a regular room. They also started feeding him through his g-tube (very small amounts) and stopped the IV nutrition. He is such a trooper. He is back to his usual funny, talkative self. He hasn't needed much medication for the pain except when respiratory therapy comes by, he gets upset and cries pretty hard with the cough assist. Other than that he is doing well. Will update more when we have more information!

Quick Surgery Update

Noah's surgery today went really well. He is currently in ICU but doing great. We are hoping tomorrow he will be moved to a regular room and also hoping he will get to eat. Right now he is only getting IV nutrition. So far all of the medical staff have been wonderful. We will be setting him up for a sleep study in a couple weeks for him to be evaluated for a Bi-Pap. We were going to try to get that done while he was already in the hospital but they said with him being on pain meds it will not give accurate results. Tomorrow, Lane and I have to go to a G-tube class to learn how to handle everything. Everything else is going well so far. Lane and I came home for tonight so we can get some rest and I will be going back early in the morning.

We want to thank everyone for their continued support and prayers!!! We will update again soon!

Moving Forward

Lane and I were able to go together today to take Noah for his DEXA scan. When we arrived we were greeted by Donota (PT) and Abby. Donota took Noah for a minute to check on his head control which she said was great. We then took Noah and laid him on a small table where the DEXA scan awaited us. He immediately began to cry. He sure does have a way of knowing when some sort of medical procedure is going on.

After about 30 minutes of holding him in place while they did the scan we were able to see the results. Of course, as expected it was not good. His bone density is very low. This is a result of his poor nutrition and not bearing any weight. Abby said that his nutrition is even more critical than we originally thought.

Abby did tell us that Noah's pediatrician called today and got all of their records and Dr. Swoboda's preliminary report of recommendations. This is great news....this means we will finally be getting the ball rolling as far as getting the equipment Noah needs. While Noah is in the hospital they will be trying to do a sleep study so we can get him evaluated to get a bi-pap. Before he is discharged we will also have his cough assist.

We did find out that Noah's feeding tube will mainly be used for continuous overnight feedings. So if he eats good during the day great....if not then its not a big deal because he will get his calories at night. This was some good news.....less stress.

Within the next few weeks we will be getting Noah evaluated for a stander and his manual wheelchair. We are anxious because it will finally give him a form of mobility....

So after all was said and done, we got some good news and some not so good. We are trying to stay positive cause we have a tough little guy on our hands. Go Noah!!!

Acceptance

I don't know how I will ever be able to come to terms with this new "normal". I keep thinking it will get easier as the days pass, but I feel as though we are sinking farther and farther into this black hole. It's easy for people to say we will make it, if only they felt our hearts being ripped apart. Some days, everything makes me cry......other days are emotionless. On the emotionless days, I couldn't cry if I wanted to. The emotion weighs heavy on my heart but the emotional exhaustion overpowers it. The depression that wraps itself around us is dark and cold.....miserable.

This beautiful smile is what makes it all ok.....he is the sunshine in our darkness....

New normal...

As I sit here, I wonder how long it will take for my mind to wrap around the idea that this is our new "normal".

I think of the struggles that Noah will face in his lifetime and the fact that he will have to literally fight for his life.

I thought that I would breeze through the day yesterday but reality really slapped me in the face. All the equipment and different things that he will need is overwhelming.

My heart breaks for him.....and aches for him.

I pray they find a cure. I pray that he stays strong. I pray that he starts eating better so we can avoid another surgery.

What a day

Wow would be an understatement. Today set our new reality in gear.......

I dropped Noah and Lane off at Primary Children's at 6:30 and then went to work. Thankfully I only had to work for an hour. Noah's surgery was scheduled for 8:00. I figured by the time that I got there they would have already taken him back, but thankfully they were just coming to take him as I got off the elevators. Lane and I got to carry him until we "parted" ways. I of course fell apart.

We went to the waiting room and as we were getting settled in Abby (Dr. Swoboda's nurse) came in. I was so glad to see her face and finally meet her in person. She explained to us that they were going to get started with his EMG and then Dr. Smith would take over and do his tubes. After she left Lane and I moved to a more secluded area in the waiting room. As we sat waiting, there were so many other parents anxiously waiting. There was a mother across from us crying and I couldn't help but wonder what devastating news she had.

Dr. Swoboda and Abby met us in the waiting room when they were finished with the EMG. They explained to us that Noah has a limited amount of active motor neurons and that they are actively degenerating. I thought that I would be able to handle this day but I was wrong......very wrong. So as we kept talking we went over some basic information such as Noah's growth chart. He has fallen way off the chart from where he should be and is malnourished. This decreases his energy, creating more problems for his already fragile little body. It also causes the progression to speed up. So, unfortunately he will have to have another surgery to place a feeding tube in a few weeks.

At this point I was completely overwhelmed. As Abby finished talking to us, Dr. Smith came to tell us he was done and Noah did great. He told us that both of Noah's ears were full of infection again, so now that he has the tubes he should be feeling a lot better. Shortly after they left, a man said that they could take one parent back, so I went. As the gentleman was taking me and two other moms back I saw Abby coming back down the hall. She put her arm around me and told the man "I'll take this mom." When we walked through the doors to the PACU I could hear our sweet little boy wailing. He was so angry! I got to his bed and they told me to go ahead and pick him up. Dr. Swoboda was at his bedside trying to get another EMG reading from his wrist. I held him until she finished, then they moved us to the regular recovery area and Lane was finally able to come back. He fell asleep for about an hour and then woke up starving. After he ate, they checked him over again and we were discharged.

Immediately after we left recovery we headed down stairs to meet Dr. Swoboda and Abby in the SMA clinic. We first met with the nutritionist who went over a lot of different things with us and different things to try. After we finished with her then we went to the cafeteria to get lunch. As we were eating Dr. Swoboda stopped by with a fellow SMA dad. It was great to meet someone that has personal experience as a parent. I am hoping to stay in touch with him and his wife as I think we could both benefit.

After eating we went back to the SMA clinic and met with a genetic counselor who went over the genetics of SMA. It truly was some great information.

They will be setting us up for Noah to get a cough assist machine and some other necessary things such as a referral to a PT so that we can get Noah set up for a wheelchair and therapy.

After 11 hours at the hospital I don't think I feel any better about any of this. I still have this what do we do next feeling....

I guess we can only take it one day at a time. I am numb and completely overwhelmed.

Good day today....

Lane was able to be off work yesterday and hang out with our Noah. I was thankful for that because Lane needed the break....

Today I had been coordinating with Abby, Dr. Swoboda's nurse trying to make things work out so that it would be less hectic and more beneficial to Noah. She was able to coordinate his EMG to be done while he is sedated in the OR Friday, this way he won't have to be sedated a second time. Then we will meet with them after his surgery. I am anxious, scared, excited and nervous.

Today, Lane took him to have his swallow study. He said they gave Noah chocolate pudding which he thoroughly enjoyed. I was shocked when Lane told me he passed. We originally were thinking he may be silently aspirating but thankfully this is not the case. After the swallow study was done they went to meet Donata, the PT.

Lane thinks the world of her already, he said she was excellent with Noah. After evaluating Noah she said that she was very impressed. She said that he has a lot more strength than she expected. He did show some weakness in his hips but his range of motion, leg strength, and arm strength was really good. Thankfully he is still able to roll over, go from crawling to sitting position, and has decent balance.

I thank God for some good news.....I have had so many emotions run through me all at the same time. All I want is for Noah to have a fulfilling life. I am excited....but at the exact same time I am heartbroken.

We received an information packet from Families of SMA yesterday. I spent an hour or so looking at all of the information. It was a ton of stuff that was very helpful, but while reading everything and looking at all the pictures of these amazing kids it shredded my heart a little more. It hurts me to think of all the precious, beautiful children and their families that are dealing with this.

I never thought anything like this would happen, but who ever expects something devastating to happen to them? It is so overwhelming. Sometimes I feel like I can't breathe......

Noah is the one keeping us strong. He is a go getter and not willing to give up. I pray for his strength, I pray that he will continue to get good reports, I pray that God will lay his hand upon him and touch him, and most of all I pray for his future.

Can't Sleep....

Noah woke up wanting his nightly bottle and now I am unable to go back to sleep...and so is he..... My mind filled with so many things.....if only I could put them all to the side so I could get some rest...

Sitting here watching him play is hard....How hard it is for him to do such little things. As he sits up and plays he falls over so easily. It is heartbreaking to watch him pull his little body across the floor. He gets so frustrated because his mind knows what his body is "supposed" to be able to do, but he is just physically not able. He is so intelligent and his determination helps keep me going....

Next week is going to be hectic..Monday the daycare is closed so Lane will get to stay home and hang out with Noah. I am somewhat glad because he needs a break from work. Tuesday Noah goes to Primary Children's for a swallow study. Wednesday we all go to meet with Dr. Swoboda and he will be having an EMG, and Friday Noah has his tube surgery that was originally scheduled for Monday. They decided they didn't want to do it at their outpatient clinic when they found out he was just diagnosed with SMA...Then the week after we will be meeting a physical therapist and he will be getting a DEXA scan done.

I believe from here on out life is going to be pretty hectic for us and our little "bean." I remember looking at the ultrasound when I was first pregnant and he looked like a tiny little bean. Those days seem like the easy ones now. It's crazy how you always think life is rough at a certain point...and then something unexpected happens that absolutely blows your mind....

October 5th, 2011

I dropped Noah off at daycare and went to work as usual. Once I got clocked in and settled I went to sit with a co-worker to train some more. As I sat trying to pay attention to what was at hand my phone rang......8:23......not a familiar number...I answered........

"Hello.... Lauren???"

 "Yes", I answered.....

"This is Dr. Benedict...."

The first thought that ran through my head was Oh No.....if this is the Doctor calling instead of the nurse this can't be good....

She then said that the nurse had forwarded my message on to her and she was returning my call since I had some questions. I told her my concern was Noah having surgery and not knowing a definite diagnosis. I was nervous about the anesthesia and asked her if I just needed to make the ENT and Anesthesiologist aware of the suspected diagnosis...

Well, she said...instead of keeping you wondering I am going to go ahead and talk to you before you guys go see Dr. Swoboda......... The results of the test are back and it is positive for SMA...

My heart dropped.....

This can't be happening....Is this a dream???

I sat in silence and she asked if I was okay. I began to cry and told her that I was definitely NOT ok.

 My mind raced......Are you kidding me? Of course I'm not ok. You just told me my son has this terrible degenerative disease that will greatly affect his life and you ask if I am ok....

She went on to tell me how great Dr. Swoboda is and that they definitely wanted Noah to go ahead and get tubes. She said she was sorry about the results, told me what a beautiful little guy he is, and that she would have a social worker get in touch with me.

Next thing I knew I was surrounded by my coworkers. They told me how sorry they were and hugged me. It was nice to have their support, especially being at a new job.

I waited until lunch to call Lane. He took it unexpectedly well....I know he was just trying to be strong for me.

The day went on for what felt like an eternity as my mind raced. So many thoughts, feelings, and emotions.

Why our Noah?

I felt anger, resentment, sadness, confusion, numbness.......

What do we do now??

I look back at Noah when he was seven months old. We joked that he was going to walk before he crawled. He would stand and take steps as though he was going to take off running. Now we know he will never walk. The thought of all the things he will not be able to do and all the things he will have to endure medically is gutwrenching. There are no words to describe the pain we feel..

October 4, 2011.........Noah's Birthday!!!

This was a great day simply because our Noah had been with us for 1 year. We have enjoyed him so much. Other than being his birthday it was quite uneventful, which was ok with us being stressed beyond belief. I was able to get home from work early and spend some time with him which was very nice.

Still no word from the message I had left the day before......

Monday October 3, 2011

I had taken Noah to the ENT before I had started my new job, the outcome of that visit was for him to get tubes in his ears. This was welcoming news because he had so many ear infections throughout the summer. They scheduled it for Monday October 14th. After getting the suspected diagnosis I began to get concerned about him having surgery. So late that afternoon I called Dr. Swoboda's nurse and left a message......then we waited some more....

What is SMA???

Spinal muscular atrophy is a degenerative problem that affects the motor nerves, resulting in muscle wasting and weakness. Spinal muscular atrophy occurs in approximately one in 6,000 -10,000 live births. 1 in 40 people are carriers.....

SMA is an autosomal recessive disease. This means that two abnormal copies of the gene, one inherited from each parent, are necessary to have the condition.  Boys and girls are affected with equal frequency.  A child who inherits only one abnormal gene copy is a carrier, and is not a risk to develop symptoms.

A gene called survival motor neuron (or SMN) is found to have an abnormal area (called a deletion) in over 95 percent of cases of SMA. Symptomatic individuals of all ages can be tested through DNA studies typically done from a blood sample.

When both parents are carriers, there is a one in four, or 25 percent, chance, with each pregnancy, to have a child with SMA. Carrier testing of parents can help determine the recurrence risk in a specific family....

The day that changed our lives FOREVER........

September 29, 2011

What started out as just another day...turned into a nightmare, our new reality.

Lane went to work for a few hours and then went to pick Noah up and take him to see the neurologist. I had asked him to call me when they got done to let me know what the doctor said. Around 11:30 he called and left me a voicemail. I knew from the tone in his voice that the news was not good. I had done some research prior to the appointment so I had a few ideas......So, after what felt like a lifetime I took my lunch break and called him.

When I got him on the phone I fell apart before he even said anything....

The neurologist told him that it had to be one of two things....Spinal Muscular Atrophy or Muscular Dystrophy. Neither diagnosis was good. She checked Noah's reflexes and saw that they were extremely weak. She said he also had weak/poor posture and low muscle tone. They took a blood sample and told Lane it would be 2-3 weeks for the results to come back. She then referred us to an SMA specialist here at the University of Utah, Dr. Kathryn Swoboda. She said that Dr. Swoboda was out of town so it would probably be next week before we heard anything from them. As she was telling him the suspected diagnosis she showed no emotion....Heartless and cold......

Now what...?? We wait? Yes....we wait...

So that's what we did.....waited...

And researched and waited and researched some more.....

Moving to Utah

Shortly after getting out to Utah I made Noah an appointment with a pediatrician so we could get established. While on the phone making the appointment the woman asked the reason for the visit. I simply said that we just moved and were trying to get him established with a doctor here and we are also having a few problems. She then asked what the other problems were....I briefly told her that Noah will not bear weight on his legs and also we have been having issues getting him to eat enough. She immediately put me on hold to talk to a nurse. She got back on the phone and said that we needed to bring Noah in right away and to come the next morning.

So on Friday, September 23, I took Noah to see a nurse practitioner at Wasatch Pediatrics. While observing Noah she was very concerned and referred us to a pediatric neurologist. The appointment was set for September 29th. She also referred us to an ENT because of Noah's recurrent ear infections. I was very upset because I was unable to go with Lane to take him since it was my 2nd day of work. But you do what you have to right??

Something seemed wrong....

Noah hit his milestones on time and everything was going right......he held his head up on his own, he rolled over, he smiled the most precious smile, he sat independently, he stood with help......then slowly around 7 months, bearing weight on his legs became non-existent. We jokingly called him noodle legs...thinking he was just being lazy......which looking at it now is not so funny.

Being a mother you just know when something seems wrong with your child......

For some reason I just wanted to believe he was lazy.....and that is what I continued to tell myself.

Noah.....

We were blessed with an amazing, beautiful, perfect little boy on October 4th, 2010. After months of fertility treatments and surgery we finally got our little miracle. He was the most beautiful little boy we had ever seen. We thank God everyday for allowing us to be his parents. Being a mother is the single most amazing experience I have ever had. Our life seemed to be going in the right direction.....Normal.....Complete.