Monday, May 16, 2011

Sophie's Journey

Sophie

Our beautiful daughter Sophia Kathleen TerHorst (“Sophie”) was born on March 12, 2011.  We love and adore her so much… beyond our wildest imagination… and cherish all of the incredible experiences we’ve shared with her so far.  In almost every way, she is a normal 9 week old … eating, pooping, and occasionally sleeping.  She’s very curious and aware of her surroundings.

The first few weeks:
Sophie’s rollercoaster journey started before birth… ultrasounds showed she was measuring on the small size during the second half of the pregnancy, which is referred to as “IUGR” (interuterine growth restricted).   Liz was put on modified bed rest at week 36, and was induced at week 38.  The thought by Liz’s doctors was that it would be better to induce and get Sophie growing outside the womb.   The birth went really well and our amazing little peanut arrived at a whopping 4lbs 5oz (~3rd percentile) and 18.5 inches long at Northwestern Memorial Hospital here in Chicago.  Sophie spent the first 5 days in the NICU due to low blood sugar levels and jaundice, but did really well through all of that and grew quickly.

During her first 5 weeks after the NICU, it was discovered that Sophie had a number of health issues (including a tethered cord, brachial plexus injury, and hemangiomas) that required a multitude of visits with doctors and specialists across multiple disciplines.  Each issue was unrelated to the other.  During these multiple doctor’s visits and through our own observations, it became apparent that Sophie had less than normal  movement of her arms, legs, head and neck… or in other words, she had very low muscle tone.  As the days went by, this became our main concern, as it can be the symptom of many different disorders.  We proactively started physical therapy to work on this, as well as occupational therapy for her arm injury.  We thought we were starting to get her health issues under control, but still wanted to figure out the cause of her low muscle tone.

The primary diagnosis – Spinal Muscular Atrophy:
During a regular checkup in week 6, we met with pediatrician Dr. Emily Cetner for the first time.  Dr. Cetner shared our concern for Sophie’s low tone and immediately set us up with a pediatric neurologist.  At the time we were very overwhelmed with Sophie’s other issues, and Dr. Cetner was the first person to really take charge and get Sophie the next level of care she needed.

We met with the neurologist the following Tuesday morning, and after her evaluation of Sophie, she explained that Sophie likely had a motor neuron disorder… and hinted that it might be Spinal Muscular Atrophy (“SMA”).  This feedback came as a huge shock to us, and as we immediately did more research as soon as we stepped out of the doctor’s office, we quickly began to realize the potential magnitude of the situation.  The more we read, the more we discovered that Sophie presented many of the preliminary signs of SMA… and the more devastated we became.

A series of blood and urine tests were completed right away, and the genetic test for SMA was taken a week later… however before we got any of the results, we were nearly certain within days that she indeed had SMA…  and began to emotionally prepare for the dramatic impact it was going to have on all of our lives, most importantly Sophie’s.  As we feared and expected, the SMA test came back positive a week later.

What is SMA?
In summary, SMA is a genetic, motor neuron disease.  It is a relatively common "rare disorder": approximately 1 in 6,000 babies born are affected, and about 1 in 40 people are genetic carriers (unknowingly usually).

The muscles of patients with SMA weaken and waste away (atrophy) due to degeneration of motor neurons which are nerve cells in the spinal cord. Normally, these motor neurons relay signals, which they receive from the brain, to the muscle cells. When these neurons fail to function, the muscles deteriorate. 
SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body) are often most severely affected.  Feeding, swallowing, and respiratory actions (breathing and coughing) can be affected, leading to an increased tendency for pneumonia and other lung problems.  Note that brain activity, sensation and the ability to feel are not affected, and it is often observed that patients with SMA are unusually bright and sociable.

There is no cure for SMA, and as a result of the muscle degeneration and subsequent issues, life expectancy for infants diagnosed with SMA (type 1, which as what Sophie has) can be as short as days/weeks... and without aggressive intervention, is typically less then 2 years.

More information on SMA can be found on many websites… however we want to warn everyone that this is a really awful disorder… one of the worst things a parent could have to deal with… and there are many sad, depressing and scary stories on the web.  We found the following site to contain a lot of helpful info to learn more about the disorder:  http://www.fsma.org/FSMACommunity/UnderstandingSMA/

How are we dealing with this?
This has obviously been the hardest thing we’ve ever had to deal with in our lives… and honestly, some days and hours are better than others.  We certainly went through the initial range of emotions (disbelief, fear, anger, jealousy, etc.) the first week before we even got the official diagnoses… but when it comes down to it, the only thing that matters is Sophie and what we can do to maximize the quality of her time with us.

The important thing to focus on right now is that Sophie isn’t experiencing any of the major effects of the disorder yet (and might not for a few months), and we are going to do everything in our power to make sure she is as happy and comfortable every single day.  It’s easy to be jealous when we see families with healthy kids walking down the street, or mad when we see bad parents on the street or in the news… but none of that impacts Sophie.  We strive to stay positive when we are with her (it’s amazing how she can sense our stress), and focus on all the things she enjoys such as:

- Walks in the neighborhood and park in the stroller
- Naps on the couch w/mom or dad’s chest
- Getting diaper changed
- Listening to mom and dad sing the MSU fight song
- Baths
- Getting licked by Bella, that big curly goldendoodle who still hasn’t quite figured her out

Treatment / Care:
As noted above, there is no treatment or cure for SMA, and the disease is degenerative (meaning it will continue to get worse over time).  Care options vary, and parents must make difficult decisions regarding the path of care for their children.  Parents have different views on quality of life, and different views on the likelihood and future time for a treatment or cure for the disease.

As such, parents make a range of different care choices for their children... some parents choose to go to any measure to keep their child alive for as long as possible... while some parents focus less on maximizing the length of life and more so on maximizing the child's comfort every single day (aka a ‘palliative’ care approach).

Every parent does what they think is best for their child... and there is no one right decision to this awful situation.  With that said, we ask that everyone respect our decisions regarding Sophie’s care.  While we will continue to learn more and make many difficult decisions along the way, our focus is going to be on maximizing Sophie’s comfort level and quality of life.

Sophie’s positive impact on others:
Sophie has already enriched our lives so much and will be a part of our family forever.  Beyond her direct impact on us, we’re going to look into the ability to donate her organs to other young children… we see so many needy kids when we are at Children’s Memorial Hospital every week, and hope that her organs can save/improve the lives of a number of other kids.

In addition, given that SMA is a genetic disorder, we are not sure if we will have any other biological children in the future (more to be learned on this topic)… however even before we had Sophie, we strongly considered adopting one day after seeing so many amazing children during some of our international travels.  After Sophie, we’ll likely adopt and give a child/children a chance for a better life that they might not have ever had.

How can people help?
So many people have already asked how they can help, and we greatly appreciate everyone’s kind thoughts and offers.  We’re sure our needs will change over time, but overall here are the primary things that come to mind:

1. Please don't feel like the need to "say the right thing"... this is a really difficult situation for everyone, and simple statements/messages letting us know that Sophie is in your thoughts are much appreciated.

2. Please continue to update us with all of the good things going on in everyone’s lives… we will always think about Sophie every single day, and hearing stories about other people’s lives, families, trips, etc. won't make it any more difficult… if anything, it will be helpful to share in the stories and joys of everyone around us.

3. When spending time with us and Sophie, please share our focus on providing a positive environment around her… we certainly understand that emotions take over at times with this situation, but it is important to keep the focus on maximizing the happiness and comfort around her.

4. Please respect our treatment and care decisions in the future.  As noted above, there is no one right solution for all families in this situation, and while we appreciate everyone’s concern and support for Sophie, we are going to do what we feel is best for her at every point along the way.

5. Please consider getting involved in SMA awareness activities… we’ll continue to learn more about these and share information about opportunities in the future.

Thank You’s:
Sophie has met so many incredible people in her life already, and we’d like to acknowledge the many people that have helped and supported her along the way so far. 

First, we’d like thank our family and friends… you’ve been such a great support system for Sophie and us!  We are blessed to have you in our lives. 

Second, thank you to our co-workers and managers who have been so flexible and supportive with our work/life balance through all of this. 

Third, thank you to the many healthcare providers that have helped Sophie so far, including the various teams at Children’s Memorial Hospital (Colleen Glomgren, Physical Therapy; Leslie Rodman, Occupational Therapy; Dr. Anthony Mancini, Dermatology; Susan, Speech / Swallow Therapy; Tord Alden, Neurosurgery; and Dr. Shubhra Mukherjee, Physiatry), Advocate Medical Group (Dr. Farha Kahn, Neurology), the NICU staff at Northwestern Memorial, and last but not least, Dr. Emily Cetner from Town & Country Pediatrics (thanks for everything Dr. Cetner).

Love,
Liz, Mike, & Sophie



28 comments:

  1. Beautifully writtten!

    Julie VanSickle

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  2. The ConstantinesMay 17, 2011 at 9:38 AM

    Sophie is so lucky to have you both as parents! Although the SMA has brought a lot of pain and sadness, Sophie has brought and will continue to bring so much love to all who are fortunate enough to know her. Please do keep us all updated on how we can help you and the SMA cause, and thank you for sharing your journey so candidly! We love you guys!

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  3. Love you guys and continued thoughts with you.

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  4. Liz and Mike,
    Our thoughts, prayers and love are always with you guys. Give adorable little Sophie a hug and kiss from the Moose family!
    Love you guys,
    Kerri, Nick and Junior

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  5. Lis, Mike and Beautiful Sophie~
    Hello, I am Heather, Jim & Katie's sister. I have spoken with them and learned of your challenging journey. You are inspiring with your strength, commitment and dedication to give Sophie such love and happiness everyday. I am a mother of two toddlers and my heart goes out to all of you. Please know that you and your family will be in our prayers daily. If there is anything we can do in the future, just contact Jim or Katie and we would be happy to help. May God bless you all each and every day.
    ~The Bierlein's

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  6. There are no words, no words at all. There is love and memory and your decision to make all of Sophie’s days as joyful as can be— to give when you are so devastated— is not only courageous, it is an absolute expression of selfless love, the highest kind of all. I know from my own experience that the great enduring love you have for each other will be a powerful force to help you through this incomprehensible journey—and beyond. We will hold all three of you close to our hearts and in our thoughts and prayers. Nancy and Elliot

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  7. We are all lucky for the time we've been able to spend getting to know beautiful Sophia! I love you all and continue to think about you every day!

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  9. Dear Liz & Mike,

    Thank you so much for creating this beautiful blog and for allowing us to be part of Sophie's journey. You are both such amazing parents to sweet Sophie. Lot's of love and prayers to you all.

    Jen, Brad, Zoe & Tag

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  10. Steve, Amy, and Jackson OttoMay 18, 2011 at 3:03 PM

    This was so well written. You guys are amazing parents Sophie is lucky to have you! She really is a gift. She has changed the way Steve and I think about so many things. It really is incredible the impact she and you two have already had on so many lives. You should be very proud of your family....I know we are proud to know you. You are in out thoughts constantly. We love you.

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  11. Sophie's journey will obviously be filled with incredible love and grace, thanks to her amazing parents and family. Your strength and dedication to making her life beautiful and meaningful are an inspiration to everyone who will follow her journey. You are constantly in my thoughts and prayers.
    Love,
    Cindy VanSprange

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  12. Mike and Liz,
    Thanks for sharing this with us. We wish we could be there to give our hugs in person. We'll be thinking of you guys and will be praying for you each step of the way. Give your precious daughter a hug for us too.

    Rod, Laura, Chad, Scott, and Spencer

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  13. Dear Mike, Liz and Sophie - I am moved to tears this morning, learning of Sophie's health concerns. We had no idea - thanks for sharing as you will all (including grandparents!) be in our thoughts and prayers. I know that God gave you Sophie to love and care for temporarily on this earth, and that you will do the very best possible job. We love you, Lowell and Sharon

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  14. Such a beautiful post and beautiful family. Thank you so much for sharing. You two are such strong inspirational parents. We support you both all the way. fsma.org is a great site and we will help in any way we can. We hope to see you guys in June. Thoughts and prayers always. Love Bre, Brian, and Magnum Mast

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  15. Liz, Mike, and Sophie-
    I was unaware of little Sophie's health concerns, and will keep you all in my thoughts and prayers for enjoying the happy times and creating memories that you will remember forever. From the pictures and what I am reading, it looks like sweet Sophie has already shared so much joy and love with everyone, and I know that she will continue to do so. Sending hugs and happy thoughts from NC, and thank you for sharing this blog with us to keep us all informed.

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  16. Mike, Liz, & Sophie, First of all - lean hard on God. With Him you will make it through this intact. REalize that the two of you will likely not be at the same emotion @ th e same time. This requires lots of communication and lots of grace. Second, your emotions are very real and valid. Walking with God and allowing others to walk with you does make it possible to come through it with an intact, even stronger marriage and faith. We really are here for you, no matter what. We've lived this journey and are here. Love you all, Uncle Evan & Aunt Ann

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  17. Dear Liz, Mike & Sophie:
    Sophie is an adorable little angel, and she is so blessed to have you as her parents. I am so grateful that you are both mature enough to realize that making her every minute count is what is important right now. You both have incredible wisdom beyond your ages and experience!! I and my family will keep all of you in our thoughts and prayers, and I'll continue to check up on how you are all doing. Thank you so much for making this blog, because I can only imagine how difficult it was. Love and hugs, Judy France

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  18. Dear Mike, Liz, & Sophie..Our thoughts and prayers are with your family..your love,courage,& strength is an inspiration to all..Debbie, & Jerry (janet's brother)

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  19. Mike, your mom and grandma shared this blog with me a week ago and I have not stopped thinking about the journey that you and your new family are going through. I was concerned about posting "the right words" then I realized that no words I type can change your situation, but I have to tell you, your situation has forever changed me. Your courage and compassion leave me humbled and have made me a better parent and human being. Thank you. Thank Sophia! Love, your cousin, AL

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  20. Last night when Bob shared the blog with me - I said a prayer for you, and I am praying for you now again as I write this. Thank you so much for sharing this extremely personal journey. My heart just aches for you. You two are wonderful parents and I love looking at all the beautiful pictures of little Sophia. If there is ANYTHING we can do to help you, please let me know. I go to babies r us on a regular basis so if you want me to pick up diapers, bring dinner, or get groceries for you it would make my day if I could help. If there is anything you have to do that gets away from time spent hugging and kissing that little baby, just let us know.
    Love, Amy and Bob Wagner

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  21. Dear Ones,

    Mr. Barney and I are heart broken that you are on this journey. After having read your post, it is odvious to us that you are living and loving one day at a time. You have a beautiful little daughter and she looks to us like her daddy.
    There is no asking why, we wouldn't be satisified with the answer anyway. We have walked this same journey as a family, and know it is too deep for words. We are on our knees for you everyday, you and your whole family. You hold a very special place in our hearts, and you always will. May you feel God's presence everyday, as you make enough memories to fill your heart for a lifetime.

    We love you,

    Mr. Barney and Diane

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  22. Liz & Mike,
    Thank you for sharing this incredible blog of Sophie's Journey with us. You are amazing parents as you accept this challenge with strength and courage for your precious daughter. Sophie is so blessed to have you and her grandparents as well as the extended family that give her so much love and support. Continue to cherish her, love her and to build on those memories as family. Remember, you are all a blessing to each other.

    Our love and prayers are with all of you.

    Carol & Denny Johnson

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  23. Liz, Mike and Sophie, God bless you all. I learned of this blog from your cousin Jess in Iowa. I am in her bible study and she knows the significance of this situation to me because I lost my 11 month old son in January this year. As one heart broken mother to another, God will pick you up and carry you each day. I pray that God gives you and your husband the comfort and peace as you walk through this trial and know that your love and prayers for your daughter will carry her to heaven. And also know that your daugther will bring more Glory to God during her short lives than most people's entire lives. I have seen in it my son's life and it makes me so proud of him. Your blog is beautifully written and I will pray for your family. "You can do all things in Christ who gives you strength!"

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  24. Dear Mike, Liz and Sophie. I just happened across your post. I haven't talked to your parent's since Sophie was born. We want you to know you all are in our prayers and may God grant you strength to face each challenge. You have been blessed that He has sent you Sophie to love for a short while and in His infinite wisdom and mercy will help you through this. God is the closest to you when you are experiencing a trial, as we found when we lost my brother Steve at such a young age. Seek God's comfort as man is a poor comforter and He will help you make decisions and uphold you. We don't understand God's ways sometimes but know that he never makes a mistake. Love and prayers for you all. Bruce and June Smith

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  25. thinking of you... checking in on sophie
    shaina rappoport

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  26. Thanks for the update Mike. My prayers are with you and the family. May God show up in your lives and give you strength and peace...In Jesus Name...Amen

    Lawrence Wilson

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  27. Mike and Liz, wow, having just seen you today and the work you've done for SMA is indeed powerful. Sophie was and her spirit is so strong. Little Evelyn seems to me as if she has some "Sophie wisdom" about her. Your story is so compelling. I would have gone to the walk and roll in Lincoln Park, but did not hear/know about it. So very glad to went to the Walk and Roll today in Libertyville. So very glad I got to talk with each of you. Two amazing people. A little sweet angel who I had to pleasure of cooing at and she cooed back at me one early day in her life. Today, little Evelyn smiled so much I just could not get enough of her. God blesses us and gives us things we NEVER thought we could bear. Look at both of you. So awesome. So giving. My blessing was today. Thanks.
    Joan

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  28. It is hard not to think about Sophie. I have this bookmarked, and will have it bookmarked a long long time. Love, Dad-Stan-Papa

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