Sophie's 6 Months Old!

On September 12th, Sophie turned 6 months old!  Since the lives of SMA babies are typically measured in months and not years, we are going to do something special on the 12th of each month going forward.  More on her 6 month party is below, however first is an updated on how she's doing:

As past posts have mentioned, Sophie will continue to get weaker as time goes on.  This includes the muscles that control swallowing and breathing.  Due to this, we have started to notice Sophie having more trouble in prolonged upright positions (she is unable to swallow saliva as well as she used to, and being upright makes it more difficult to breathe at times).  We have switched to a carseat that allows her to lay down flat and purchased a new stroller which reclines all the way down.  This allows us to continue getting out and about as much as before.  With all of this said, we are still able to hold Sophie upright, but if we notice that she is sounding 'congested' we simply switch her position.  If Sophie does becomes too congested, we have to remove the saliva at the back of her throat with a bulb syringe...as her condition worsens, we have a suction machine which will help make this process more efficient.  Sophie is such a sport and tolerates this really well.

Though Sophie is slowly becoming weaker, her mind is advancing just as a typical baby's does.  We have been keeping busy -- keeping her busy!  She often gets bored with toys after a few minutes, so it feels like we are constantly switching activities to keep her stimulated (she isn't able to entertain herself as easily as a typical baby due to her weakness).  Some of her favorite things to do are:  reading books, playing with the iPad (there are kids games where we can help her touch the screen and allow her to 'play'), playing with toys that light up/sing, playing with balloons, watching the trees outside our window, staring at the ceiling fan, etc.  She likes movement, so we do a lot of walking around with her, swinging, dancing, etc.  Sophie also still loves bath time, which provides an environment where she can more easily move her arms/legs because of the buoyancy of the water.

Sophie has the sweetest little personality we've ever seen.  Though she likes keeping busy, she rarely complains or cries.  She is easy to put to sleep (most nights) and is smiling more and more.

Now to the fun stuff!  For Sophie's 6 month birthday, we took her to the Brookfield Zoo (which is bigger than the Lincoln Park Zoo near our place).  After the zoo, we had a small birthday party with an Elmo cake, balloons, and some of her favorite people.

The following are some pictures of our day:

Loading up...She's excited!

Here we go

Sophie's first carousel ride

Very interested in the sea lions

And...she's out

We continued on even though the star of the show fell asleep

This picture was taken for Aunt Kim and Aunt Juli

One last stop with Daddy

As you can see, Sophie fell asleep half way through the zoo trip...but at least she got a good nap!  She usually stays up all day because she doesn't want to miss anything.

And now for the party:

Sophie's Birthday Spread

Playtime before cake time

Cake Time

Sophie eating some frosting which she loved!

Sophie hanging with the ladies

Lastly, we'd like to pass along a big thank you for everyone's continued thoughts and support... we really appreciate it!

Love,
- Liz, Mike & Sophie

Entourage Part 3

An update on Sophie will be posted very soon...in the meantime, here are some more of Sophie's favorite people:

Are you ready for some football?  Go Green!

Craig and Cara

Amy, Jack, Steve Otto

Grandma Nancy

Mike and Jaime

Cousin Cathy, Alex, Evan, Katie

Kyle and Karen

Aunt Catie and Cousin Locy

Great Uncle John

Diane Johnson

Craig and Dawn

Great Grandma and Grandpa Roeder

Mark and Heathor

Nonnie, Cheryl, Sharon, Kathy

Uncle Craig and Aunt Breanne

The Smiths

August is SMA Awareness Month

August is SMA awareness month.  Given how relatively common SMA is compared to other genetic diseases, such as Cystic Fibrosis, there is not nearly enough awareness among both healthcare providers and the general public.  We had never heard of SMA until Sophie was diagnosed, yet since then, we’ve seen just how widespread this disease is.   In honor of SMA awareness month, we want to briefly explain the genetics behind SMA.   Sophie has been diagnosed with SMA Type 1 (the most severe form), but keep in mind that there are 4 types of SMA (1-4).

- Roughly 1 out of every 40 people are unknowingly carriers of this genetic disease.  

- SMA is an autosomal recessive genetic disease which is caused by a deletion or mutation in the Survival Motor Neuron 1 (SMN1) gene. 

- Most people have two copies of the SMN1 gene, one inherited from their mother and the other from their father. However, carriers of SMA have one normal copy of SMN1 and one mutated, or defective, copy. Having at least one normal SMN1 copy will allow a person to produce more than enough SMN protein to prevent any symptoms of SMA, so carriers do not show any symptoms of the disease, and generally are unaware that they are carriers.  Both of us (Liz and Mike) were tested and confirmed to be carriers of SMA. 

  

- SMA usually occurs in children of couples who are both carriers of SMA (95% of the time), each parent having one normal and one defective SMN1 copy as described above. Because carriers of SMA have an equal chance of passing on a normal or defective copy of SMN1 as parents, there are three possible combinations of parental SMN1 copies that determine if the offspring will be affected by SMA. Children of two SMA carriers have a:

• 25% chance of inheriting two normal copies of SMN1. These children will not have SMA and will not be carriers of SMA.
• 50% chance of inheriting one normal and one defective copy of SMN1. These children will not have SMA but will be carriers of SMA (like their parents).
• 25% chance of inheriting 2 defective copies of SMN1. These children will have SMA.  

- Sophie obviously fell into the 25% chance of inheriting 2 defective copies of SMN1, (and was therefore affected with SMA), and any future children we might have will also have a 25% change of being affected (%’s are the same for all children).  

- We recently met with a genetics counselor to go over our options for future children.  The genetics counselor said something interesting: most people are unknowingly carriers of ~6-7 genetic defects (such as SMA)...it just so happens that both of us have the same genetic defect, which is why Sophie is affected. Other autosomal recessive conditions that you may have heard of include Cystic Fibrosis and Tay Sachs.  

- Given that ~1 in 40 people are carriers, ~1/6000 babies is affected with SMA

- Anyone can be tested (via a simple blood test) to see if they are a carrier for SMA.  This is something we will be big advocates for as we did not know that we are carriers.  If people have the knowledge of their ‘carrier status‘ prior to having children, it gives them the opportunity to talk about family planning with their partner.  Cystic Fibrosis carrier status is routinely checked with expecting mothers, but SMA is not (at least not in many OB offices yet).  Our hope is that one day, SMA carrier status will fall under the routine category.   

SMA research is largely underfunded.  The medical community anticipates that a cure/treatment is very conceivable in the short-medium term future.  We plan to get involved with both awareness and fundraising efforts in the future, however our first step is to spread the word about just how common and devastating this disease is.  

If you are interested in getting tested to see if you are a carrier for SMA, please speak with your doctor and/or a genetic counselor to see where you can get tested in your area!  

For more information on the gentetics of SMA, the following link is available:  http://www.fsma.org/UploadedFiles/ForMedia/Materials/fsmageneticsbrochure111909.pdf

Sophie's Entourage - Part 2

 Our Little Angel is growing!

 One of Sophie's many smiles

 Story time

 Sophie's first boat ride

Sophie loves balloons and playing with Daddy

Sophie continues to do relatively well.  She is smiling more and more, but it has been difficult to capture them in photos (she gets very focused on the camera).  We continue to take Sophie for lots of walks in the neighborhood, and have found that her favorite place to go is Walgreens, probably due to all of the colors.   Sophie has also been enjoying Elmo and Baby Einstein TV, reading colorful books, playing with her new toys, and watching the family dog Bella.  Sophie becomes most vocal when watching the coverage on the debt ceiling and yells at the TV because she is sick of hearing about it (she really does babble loudly during the coverage).

Sophie had her 4 month check-up a few weeks ago and is tipping the scales at almost 11 pounds (5th percentile...what a fatty).  The hospice nurse continues to make weekly visits to check Sophie's health and answer our questions.  So far, her health has been great and she has not caught a cold.  In the future, we expect to see her muscles weaken even more, and she will be more prone to pneumonia, which is generally what takes the lives of SMA babies.  When that time comes, there are medications that can help keep her comfortable.  In the meantime, we are doing everything we can to spoil our Sophie!!!

We have had lots of visitors to meet our little sweetie...she is so loved!  The following are additional pictures of Sophie's entourage:

Tricia and Greyson

Lauren

Jill

Great Grandma TerHorst

Great Uncle Dave and Aunt Barb (above), The Potgetters (below)

Odey

Great Aunt Sharon

Great Aunt Laura

Tricia and Caden

The Petrosky's

Andrew and Shana

The LeTarte's

The Belaire Cousins

Great Aunt Deb (Uncle Greg too)

Cousin Sharon and Glenn

Adam and Natalie