you are my sunshine

Wednesday, September 17

Today I am posting a very overdue update. It's about our precious Auni girl. It will be difficult to find the words to accurately express all of the emotions and worries that have been racing through my body the last couple of months. We had no idea such a life altering trial was heading our way, but I know that Heavenly Father has a plan and I trust him. There are going to be some very dark, hard moments ahead, but I know without a shadow of a doubt that the great moments will far outweigh those. We feel SO blessed to have Auni in our lives. I honestly do not have a clue what we did without her. She brings so much purpose to our lives and I now, more than ever, understand why families are the central part of God's plan. I take great comfort in knowing that families are forever. Auni has an indescribable little spirit and that's probably why Heavenly Father needs her back sooner than we expected. She is the happiest little girl on the planet! The strength she has shown in these first nine months of life has been so inspiring. I know because of her strength, our family will be able to get through this.


Auni's Story

At Auni’s 4 month well visit with her pediatrician, we asked him about her head shape because it looked a little flat in the back (She’s always been an amazing sleeper. You go Auni Ray!).  He then referred us to a physical therapist in Orem.  During the first visit with the physical therapist, I pointed out to him that Auni could not bear any weight on her legs and that her relaxed muscle tone was very low.  After seeing this, he gave me some extra exercises to do with her to work on her strength.  We did these for the following two months but did not see much improvement.  It was uncommon for him to have a six-month-old that could not bear any weight on her legs, so he then referred us to a neurologist (Also, at this point, Auni could not sit up or lift her legs at all while lying on her back. Her muscles were very relaxed and she did not have much strength at all).  

We made an appointment at Utah Neuro Rehab in Murray to move forward with the process.  They were a great starting point, and if they are unable to treat the patient fully, they get you where you need to be.  This is exactly what they did for us.  At the first appointment with them, they asked us many questions concerning Auni’s history and performed a physical evaluation.  From this information, they decided to conduct an EMG (Elecromyography), check her Creatine Kinase level, and get a hip x-ray.  After performing the EMG, they pulled us aside to let us know what they had found.  The EMG showed that something was wrong with her nerves and muscles but they still did not have an exact diagnosis.  They told us that they were going to send the results from the tests to a pediatric neurologist which we were scheduled to see just three days later.  

We went to see Dr. Morita and she was absolutely amazing!  She also asked about Auni’s history and then performed a physical evaluation.  These findings along with the test results, led her to a diagnosis.  Spinal Muscular Atrophy (SMA) Type 1.  Dallin and I had come across this when Auni was about 4 months old when googling Auni’s symptoms.  Considering the grim outcome of the disease, we decided that we were not going to get ahead of ourselves and decided to stop researching things and stressing about a possible diagnosis.  From that point on however, SMA became our worst case scenario in a sense.  It was always lingering in the back of our minds. I can still remember so clearly the moment when she said those words.  “I am almost 90% sure she has something called Spinal Muscular Atrophy.”  My heart froze and everything seemed to move in slow motion.  There were so many emotions running through my body that I did not know how to handle it.  Our worst case scenario had just become reality.  This is the point where Dall and I started crying and it looked like it took everything Dr. Morita had to keep it together.  We told her that we had came across it online but didn’t read too much about it after seeing the grim outcome.  Dr. Morita then went over the short and long-term future with the disease.  The first thing she wanted us to do was go see a Pulmonologist (lung doctor), to make sure Auni was still doing okay with her breathing. She then explained that down the line, she would start choking more and having a hard time swallowing liquids. At this point, she would need a swallow study done to check her swallowing ability. When necessary, Auni will need to have a feeding tube put in to make sure she is getting proper nutrition. When breathing starts becoming a problem, she will most likely use a BiPAP machine to help her breathe at night, then a little farther down the line, it will be needed to be used constantly. Then a time will come where she will need to have a Tracheostomy (a tube inserted into a hole in the front of her neck) and will be put on a ventilator that will breath for her.  

As for the big picture, in the past, children with SMA Type 1 usually didn’t live past 2 years of age.  With today’s medical technology and preventative care, these children are now expected to live until 4 or 5 years of age (and in some cases, even longer).  Although this was still a very devastating prognosis, we are very grateful not only for the extra years given to these children, but also the increased quality of life these children get to enjoy.  Auni is the happiest baby, she always has been.  Ever since she was a newborn, she has always been very happy and content.  She has brought a light into our life that is indescribable.  She brings us so much joy that I have no idea what we did without her.  I never knew this kind of love existed.  There is nothing comparable to the amount of love you have for your child.  Auni Ray is a fighter and I have no doubt in my mind that she can get through this!  She is one tough little girl!  It’s because of her strength and example, that Dallin and I know that we can get through this.  There are many hard and dark times ahead, but we know the irreplaceable, happy memories ahead will far outweigh the hardships.  We are the luckiest parents on the planet to get such an amazing, beautiful daughter.  We want to do everything in our power to give her the best life possible.  



What is SMA?
  • SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to sit, crawl, walk, eat, or breathe. It is the number one genetic cause of death for infants.
  • SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.
  • SMA affects approximately 1 in 10,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.
  • There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.
  • Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.
  • Though there is currently no approved treatment for SMA, there’s great reason for hope. The causes of SMA are known along with what needs to be done to develop effective therapies, and we’re on the verge of major breakthroughs that will strengthen our children’s bodies, extend life, and eventually lead to a cure.


To learn more about SMA, visit http://www.curesma.org
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6 comments :

  1. These pictures are perfect! Thank you for posting, I'm always thinking about you 3. XO

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  2. You don't know me. You recently added me on IG and I came across your blog. We to are having this life-changing experience. We're also LDS. We have a 3 year old that is SMA-free, but our second baby girl has SMA1. It was a horrifying shock and just like you described when the doctor mentioned with us she was very certain it was SMA, my world crashed. I had also read about it and pushed it away thinking it was the worst case scenario and didn't want to think about it unless I had to Your daughter looks strong! Finley too took longer to diagnose because of her strength.
    I'm sorry you're on this journey, but know you've now entered a very strong and courageous group of SMA families that help to support one another all over the world. If you ever need to vent or chat please email me. I have some Moms I often do this with that are a little further ahead of me on this journey. Their insight is so comforting as I know they truly understand what I am going through. Much love and prayers for you guys. This isn't easy, but it truly changes your perspective on life for the better. nicole.malmberg@gmail.com

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  3. Wow. This is heartbreaking. You're so strong, thanks for sharing your story! You guys are in my prayers.

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  4. Your daughter is beautiful! She is so strong! I have a daughter too with SMA type 1. She is 17 years old. There is hope! With the proper care and treatment your daughter can live a very happy life. Sure it's not what you dreamed of for her but it's all she knows. My prayers are with you! Believe in miracles!

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  5. I am so, so sorry.. My heart hurts for both of you, and admire your strength. You don't know me but you and your sweet family are in my prayers.

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