Sophie's Second Birthday

On March 12th, 2013, Sophie would have been 2 years old.  It is crazy to think how much has happened since the day of her birth:  the amazing feeling that comes along with being parents for the first time -- bringing Sophie home and getting into a routine -- a few weeks later noticing that her muscles seemed weak -- a few weeks after that getting her SMA diagnosis -- making the next handful of months as happy and comfortable as possible for her (while at the same time being so scared that she would suffer) -- having to say goodbye -- traveling to Cambodia to volunteer in a clinic for orphans with disabilities, becoming pregnant with our second baby (who does not have SMA) -- the birth of our second child -- and since then taking each day one at a time.  It all seems surreal. 

We wish more than anything that we could have Sophie with us, in a healthy non-SMA body.  At the same time, it almost feels selfish to feel that way.  Our hope is that she is somewhere amazing right now, spending time with those who have gone before us, watching over her little sister.  We miss her more now than even the first day she passed.  We will continue to try living better lives because of her.  Grief is a never ending process, overwhelming at times, but somehow we push through.  We think of the mental and emotional strength that Sophie had and that drives us to keep on going.

For Sophie's second birthday, we decided to visit several of the spots that we frequented with her including:  her favorite resteruant (it was her favorite because there were ceiling fans right over the tables), the tree that was planted in honor of her, the plaque that was put up in memory of her, and the zoo.  At the end of the day, we had an Elmo cake that we let Evelyn (her little sister) enjoy.  Sophie and Evelyn definitely look like sisters!  Pictures below show our day and Sophie is the one with the 'love you' onesie in the first set of pictures and in the second set you can see us holding her the day she was born. 

 We will post again (hopefully soon) regarding some of the projects we've been working on which include an SMA study, a hospice related research study, and advocacy work for SMA carrier screening. 

Sophie is a big sister!

Our sweet little Evie

 
On September 24th, 2012, Sophie became a big sister!  Evelyn Kathleen Terhorst ('Evie') was born at 38 weeks along weighing in at 6 pounds and 7 ounces.  She is an absolute sweetheart and we are loving every single second with her.  Evie does NOT have SMA and this was confirmed at 10 weeks in-utero with a CVS test (a small piece of the placenta was taken to test her DNA). 

As you can imagine, there have been emotional times with the pregnancy and since Evie was born...it's impossible not to remember the different stages we went through with Sophie.  We miss Sophie like crazy and this will always be the case no matter how many children we have.  Sophie was an amazing little soul and the presence of Evie has not made the loss of Sophie any easier.  With that said, we are beyond happy to have the chance to be parents again!  Evie will always know she has a big sister looking out for her, even if Sophie is not here in the physical sense. 

Please do not feel bad or uncomfortable asking us questions about Sophie, Evie, CVS testing, SMA, etc.  We are more than happy to share our story and our thoughts.  We want to keep Sophie's memory alive and spread awareness about SMA.  We will continue to update this blog with pictures of Evie and SMA related information!

Almost here!  Evie gave her mama a very easy labor!

Proud Daddy!

Nonnie made it to the hospital about an hour after Evie arrived; she also helped us out the first week at home which was great!

Sleeping soundly

Already a Daddy's girl

After our first sleepless night:)

Bella posing with her new housemate

Ready for her first walk through the neighborhood and by Sophie's tree

She is currently sleeping a lot, but here is one with her eyes open

Godparents Uncle Joel and Aunt Carla

Grandpa Stan and Grandma Nancy

Grandma Mary and Grandpa Gene

Celebration of Sophie's Life and Fundraiser for SMA

We meant to write this post several weeks ago, but better late than never!

On June 16th, we held a 'Walk and Roll' event to celebrate Sophie's life and raise awareness and funding for SMA.  The event took place in Lincoln Park, were we took Sophie on daily walks.  The start and finish line were located at a tree that was planted in memory of Sophie and participants had the option of waking either a 1 or 2 mile loop.  Afterwards we had a catered bbq which allowed everyone to mingle and remember Sophie.  Since Sophie loved Elmo, participants wore Elmo t-shirts and carried a red carnation during the walk (which everyone laid by her tree at the finish line).

We had an incredible turn out and a great day for the event, and can't thank everyone enough for the great support.  Proceeds went to 'Families of SMA' (FSMA) which is a great organization which provided amazing support to us throughout Sophie's life.  We could never have expected this, but our generous family, friends and co-workers donated ~ $40,000!  This will help countless families who are given the horrible 'SMA' diagnosis, as well as provide money towards research for a cure!

Below are some pictures of our day: 

Sophie's Memorial Tree

Flowers that participants laid by Sophie's tree at the finish line

Walking along the course

Elmo dolls for the little ones

This way!

Nonnie

Grandpa Stan and Grandma Nancy

Uncle Craig, Aunt Breanne and cousin Harper

Uncle Joel and Aunt Carla

Uncle Brad, Aunt Jenny, Cousin Zoe, Cousin Tag

Grandma and Grandpa TerHorst, Aunt Katie, Cousin Emma, Great Aunt Janet and Great Uncle David

Great Aunt Cooke, Great Grandma Gerber

Aunt Katie and Aaron

The star of the show, Sophie, thanks everyone for participating and supporting SMA!

SMA Testing Options

It’s been a little over a year since we received Sophie’s diagnosis, or “d-day” as referred to in the SMA community.

As we reflect back on how we got to that dreadful day, we often come back to the same thought… one that has been described by many other families in the SMA community:  No parent should find out that they are a carrier for SMA for the first time at the moment when their child receives the diagnosis.

What do we mean by that?  Well, for those new to SMA:

·         It is recessive hereditary disease – meaning that parents who carry the ‘abnormal’ gene that causes SMA do so unknowingly unless they have been tested.

·         Sophie had SMA because both of us are ‘carriers’ for the disease – meaning we each have one normal, and one abnormal, SMA related gene (SMA only impacts a person if both of their genes are abnormal).  However, we were never offered ‘carrier screening’ before or after Sophie was conceived, and each of us unknowingly passed the abnormal gene to Sophie.

·         If both parents are carriers for SMA, there’s a 25% chance any child from them would have SMA.

As highly effective carrier screening tests have been available for over 10 years:

·         Adults should be tested to see if they are a carrier for SMA (and other recessive diseases such as Cystic Fibrosis) either pre or post conception.

o   Testing is available through a local OB-GYN or genetics group.

o   The female is typically tested first - if she has one abnormal gene, the male is then tested to see if they are both carriers.

o   Baby can also be tested early in the pregnancy.

·         Post conception testing is very important if both parents are carriers: (i) If baby has SMA and pregnancy is continued, a care plan and resources can be lined up before birth; (ii) If baby does not have SMA, parents are now aware of the risk of SMA and options for future pregnancies.

So, given that effective carrier screening is available – even if it is not well utilized by the general public due primarily to a lack of awareness of SMA amongst the general public and medical communities (a disappointing reality that we’re focused on changing) – this means:

·         A parent should find out that they are a carrier for SMA when they are tested… not when it’s too late and they have a child who has been diagnosed with it.

·         SMA is nearly 100% preventable.  That’s right, preventable.

·         ~1 in 40 people are carriers for SMA.  This means there are likely a number of carriers in your own neighborhood, workplace, grocery store, etc.  Do you know if you are a carrier?

For those who are new to SMA, here are a few links that provide more information on Sophie’s Journey and SMA:

·         Initial entry to our blog after receiving Sophie’s diagnosis that explained more about SMA and our approach for Sophie’s care:  http://sophies--journey.blogspot.com/2011/05/sophie-our-beautiful-daughter-sophia.html

·         Claire Altman Heine Foundation website, which provides not only basic information on SMA, but also terrific information on carrier screening:  http://www.clairealtmanheinefoundation.org/

How can people help raise awareness for this terrible disease and the availability of carrier screening option?

·         See link for a one page summary on Sophie’s Journey, SMA, and carrier screening:  https://docs.google.com/open?id=0ByfQMyWzNQU-aV9DU0dhYnhhd0E

·         Please pass this attachment (and/or broader message) along to your friends, family and anyone expecting or considering having children.  Increasing awareness for the disease is crucial to increasing the number of carrier screening tests that will be performed, which will directly help prevent other babies from suffering from SMA.

·         Please discuss SMA with your OB-GYN during your next routine appointment (or sooner!) and encourage them to discuss carrier screening options with the general public.

o   While the American College of Medical Genetics and Genomics recommends SMA carrier screening for everyone, others in the medical community (including some OB-GYNs) are not as aware of SMA, its devastating impact on children, and the carrier screening options that are available.  Please help us change that!

·         Please let us know if you have any questions or ideas to help increase awareness for SMA and the carrier screening options.

Thank you for all of your continued support!

- Liz & Mike TerHorst

- lizterhorst@gmail.com or michael.terhorst@gmail.com

Registering for Sophie's Memorial Walk

Please see the last post for more information, but the following is the link for Sophie's Memorial Walk/SMA Fundraiser which we be held on Saturday, June 16th! We hope to see you there. Feel free to email if you have any questions:

www.fsma.org/sophieterhorst

for questions: lizterhorst@gmail.com

Thank you!

Sophie's Walk & Roll for SMA -- Save the Date! (June 16, 2012)

Hi everyone,

First off, we’d like to say thank you for everybody’s continued support over the last few months.  We’re doing pretty well so far, and while we miss Sophie all the time and know we have a long road ahead of us… we continue to talk about her  and look at her smiley pictures and videos everyday, and appreciate when others aren’t afraid to mention her name up, ask how we’re doing, etc… she’ll always be a big part of our lives forever.

Second, we recently returned back to Chicago after taking some time away, including a stop in Cambodia where we volunteered at an orphanage for children with disabilities and/or HIV.  We highly recommend the experience of volunteering abroad for people of all ages, experiences, etc… here’s some pictures from our time there:  Cambodia pics  (best viewed via “slideshow” option in the upper left corner, pictures move pretty quickly unless you pause the automatic transfer)

Lastly, we are excited to announce the date of Sophie’s memorial celebration and our first annual Walk & Roll event to raise awareness and funding for SMA:  Saturday, June 16^th.  We look forward to celebrating Sophie’s life with everyone and helping support a great charity for this terrible disease.  See below for the official “Save The Date” for more details, official event website and registration page will be available soon.

Thanks again for all of the support,

- Liz & Mike

_______________________________________________________________________________
 

Event Description:  Celebration of Sophie’s life and our first annual walk & roll event to raise awareness and funding for SMA  

Location:  Lincoln Park – Chicago (event will be located just south of the Lincoln Park Zoo)

Date:  Saturday, June 16, 2012   (note that this is the Saturday of Father’s Day weekend)

Time:  Check-in begins at 11:00am CT

Registration:  The official website for the event (including participate registration) will be available soon

Travel Arrangements:  Note that due to the busy tourist and conference season in Chicago in the summer, we highly recommend out-of-town guests book their travel reservations soon.  We have reserved a number hotel rooms for out-of-town guests at discounted rates, let us know if you would like to reserve one of them.

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Sophie’s Story:

Our beautiful daughter Sophia Kathleen TerHorst (“Sophie”) was born on March 12, 2011. Despite being a little peanut at birth (4lbs 5oz) and a few other challenges early on, she did great when we brought her home from the hospital and we were filled with the hopes and dreams that all first time parents experience.

Our entire world flipped upside down a few weeks later.  We had noticed that Sophie had below normal movement of her arms, legs, head and neck, and took her to see a pediatric neurologist who hinted that Sophie might have Spinal Muscular Atrophy (“SMA”).  This feedback came as a huge shock to us, and we immediately “googled” the disorder (like any parent or patient would do) on our phones before we left the parking lot.  Sophie fit the devastating description almost perfectly.  Lab work was done and confirmed that she indeed had SMA.

We quickly realized the magnitude of Sophie’s diagnosis and decided that palliative care (through Children’s Memorial Hospital and Horizon Hospice) was the best treatment option for her. We strived to give Sophie the highest quality of life as possible… we lived each day to the fullest, showered Sophie with attention and as many experiences as we could, and focused on keeping her comfortable at every stop along the way with the help of the palliative care team.  She in turn filled our days with smiles and more joy than we could have ever imagined.  Sophie peacefully passed away on her 9 month birthday, and though we miss her more than words can describe, we are better people and she will never be forgotten.

What is SMA:

Spinal Muscular Atrophy is the number one genetic killer of children under the age of two.  SMA is an inherited and fatal disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing.  ~1 in 6,000 newborns have SMA, which equates to two newborn children born with it each day in the US on average.   One in every 40 people carries the gene that causes SMA, which means there are more than seven million carriers in the US alone.  Currently there is no treatment or cure, however awareness and DNA testing (which can be done with a simple blood test) are very important to preventing this terrible disease.

Sophie’s Walk & Roll Event:

The purpose of Sophie’s walk & roll event is two-fold. One, we want to honor Sophie who was the most amazing soul that we have met. We look forward to catching up with family, friends and anyone interested in participating to help celebrate Sophie’s life.  Second, we want to raise awareness and money for SMA. An organization called Families of SMA (“FSMA”) is helping to organize the walk and was a great resource for us during Sophie’s life.  We want to give back by donating proceeds from the walk to their organization to help support families impacted by the disease and to help with research in hopes that one day no other family will experience the sad reality of SMA.

Questions or Ideas:

If you have any questions on the event or SMA, just ask.  Also, if you have ideas on how to help share Sophie’s story and/or increase awareness and testing of SMA, we’d love to hear from you.

Thank you for all of your support,

- Liz & Mike TerHorst

lizterhorst@gmail.com

michael.terhorst@gmail.com

Remembering Sophie

We can hardly believe that it's been 4 weeks since Sophie passed.  She taught us more in her 9 months of life than we could have ever imagined, and touched so many lives through her courageous attitude and loving spirit every single day of her life.

We've been on a rollercoaster of emotions... we'd love to say that everything is 'fine', but that is not entirely true.  We miss Sophie more than words can express, and know that we have a long road ahead of us.  Despite this, we are past asking 'why her' and 'why us' because those questions can't be answered and do not help us more forward.  What we do know is that Sophie was an amazing soul who will continue to live on through us and all of those she touched.

Thank you to everyone for your support!  It has helped to make this extremely difficult situation a bit easier.  Thank you to those who lit a candle in memory of Sophie.  If you haven't already, please consider lighting a candle in memory of her and take a picture of the candle with you and/or a special note to her/us and send to lizterhorst@gmail.com.  We will be compiling these and assembling them into a memorial album.

In the future, one of our primary goals will be to make Sophie proud of us.  With this in mind, and to help us try to move forward, we have decided to take some time off of work and volunteer abroad.  We recently finalized plans to travel to Cambodia and volunteer in an orphanage for children with disabilities (through a great organization called Ubelong) and will arrive there next week.

Stay tuned for more details on Sophie's memorial work here in Chicago that will take place in late spring / early summer.