Sunday, October 8, 2017

Dear Family and friends

The importance of this blog first and foremost is to share with our family members our story that we were not ready to share at the beginning. Sometimes in life we find ourselves struggling with certain news or issues. For this first blog I would like to begin sharing something that it is now true and dear to our heart about Hunter. Hunter is special, like every child is to their parents; just like our oldest 3 are to us but, Hunter is a little more special.

Our story begins as most of you know, at 37 weeks I became very ill and the labor and delivery doctor kept sending me home because baby was fine. At 38 weeks 3 days my OB said go to labor and delivery, we're getting this baby out today. Without going into too much detail of the occurrences of that day, Hunter was born via C-Section at 5:19 pm on Tuesday July 25, 2017. Because I had blood culture done and bacteria was growing on it, they decided that Hunter needed to be on a 48 hour round of antibiotics for safety; especially since my diagnosis was unknown at that time. Turns out I had listeria.

We were told that Hunter would be in the NICU for 48 hours and then he would come down to postpartum to spend the rest of our recovery together. 48 hours came and went and we were told to just hold on a little longer, little guy was having difficulty grasping the whole suck-swallow-breathe concept and his oxygen levels kept dropping; he had to stay a little longer for observation and for training on how to do this new job he had. We were then told that he was a squeaky eater and they wanted a specialist to come and check him, no big deal, a small scope to look down into his throat and see what is going on. Turns out he had this thing called Laryngomalacia, pretty common thing in babies we were told. As we await to bring Hunter home, over that weekend the NICU doctor wanted to share with us that she notices some physical differences in Hunter's appearance (not very noticeable to a regular person like us), so for the sake of it she decided to draw blood and order a DNA testing and chromosomal micro-array (it involves taking a deeper look into each chromosome). It might not be a big deal, she was just curious and thought that if there was something there we might want to know; after all these physical differences could come accompanied by learning disabilities. No big deal, right?

Weeks went by and we did not hear anything on the results. When Hunter turned 7 weeks, I took him into his pediatrician because of some intestinal issues we were having, he was on a new formula because at 2 weeks of age we learned that he had a milk protein allergy. I decided to ask his pediatrician (as I did every other week before that) if the results had come in, "let me check" he said. I watched the doctor sit in front of his laptop in deep thought as he read. He then proceeded to check Hunter and listen to his stomach, he handed him back to me and returned to his laptop and continued to read and stare at it while I was just blabbering away about things I have noticed such as his cross eyes, his lack of sleep at night, etc...

Hunter's pediatrician then proceeded to tell me in a very calm voice that the results came back and it looks like they found a small missing piece of Chromosome 17, "this is known as Smith-Magenis syndrome" he said, as I sat there clueless and in shock as I never heard of this syndrome. He went on to tell me in a calm way that there are some developmental delay such as learning and motor skills. He then said that the lab recommended to consult with a Geneticists for counseling. I look at the doctor with certainty and said "we will get the ball rolling and start early interventions, we got this" as he agreed with me. I left the office in shock, I needed to talk to my husband; I was feeling heart broken. I text Bill and asked if he had a few minutes to talk if I came over, he said "sure, come on over". When I got there I could barely breathe while I knew nothing about this Smith-Magenis Syndrome (SMS), I knew that it wasn't good because all chromosomal syndromes comes with many challenges. When I saw Bill, I could no longer hold my tears and broke down and cried and with certainty he reassured me that everything would be ok; he is our son and we love him no matter what.

I spent the next few days wondering if I would wake up and it was just a dream, I couldn't fathom that a perfect baby like Hunter had such chromosomal issue; he looked so normal. I spent the next few days doing research to the point that he became an SMS baby rather than Hunter my son, my light, my heart. Slowly, as I read other parents blogs I began to accept his diagnosis and began making arrangements for him to begin getting help with early interventions, suddenly my calendar began getting busier. Laryngomalacia surgery on October 10, 2017, ophthalmologist in November, and soon different therapies that will help him with the different obstacles he will be faced with. I suddenly woke up, Hunter was my son again, he was not SMS, he has SMS but, he is not SMS. I learned that children with this syndrome have behavioral issues, but are also very loving, kind hearted and love hugs.
Throughout my research I learned that SMS is a rare syndrome, 1 out of 25,000 births. Because it is so rare the information on the internet and studies are very repetitive information. Babies born with SMS have swallowing issues, which began to make sense why he was struggling, they also have sleep disturbances which explained why he was so restless at night, their body produces most of their melatonin during the day and that is why they sleep mostly throughout the day. Behavioral issues are a symptom of SMS, there is no other way around it. I learned that strabismus or lazy eye is yet another symptom, dystonia (low muscle tone), which accounts for their delay in sitting, crawling and walking; right now he barely holds his head up. The symptoms range from mild to severe, it is hard to know the severity of the syndrome at a young age, only time can tell. Please feel free to click on the link for more information https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome

I look forward to spending our lives with Hunter and giving him the best we can to make his life as easy and normal as possible. He is surrounded by two parents that love him unconditionally, two grandmothers that adore him and want to be every part of his life, and three older brothers who love him beyond the brotherly love I have ever seen; especially Bodhi who is obsessed with him.

I hope you all enjoyed my blog, my purpose is to share it with our family members in a more easier way. I am sorry that the news were shared this way, sometimes it is easier to write our feelings out than to talk about them. I hope you all will continue to follow my blog as I will continue to add as Hunter grows so I can share our experience and his life with our family and with those who might be going through the same experience as we are.


2 comments:

  1. He is beautiful!!! I commented in your comment on my blog. I see you have surgery today. I'll be thinking of you. I'm traveling today, but will respond as soon as I can by email. Wishing you the very best.

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    Replies
    1. Thank you Amanda! I read your reply and appreciate the support. I think it is important for me to network with parents like you, especially because you have walked in these shoes already.
      I look forward to staying in contact. I started following PRISM's Instagram when I learn about SMS, I have had a chance to read their website. We're currently in the process of waiting for his geneticist appt.
      We're located in Boise, ID. as you had asked in your reply.

      Thanks again Amanda

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