Happy Halloween

For Halloween this year, we decided to order two costumes for Sophie.   The day before Halloween, we dressed her up as a ladybug, and for Halloween night we dressed her up as a duck.  The following are some pictures:

Daddy and his ladybug

Nonnie :)

In front of the tree which was recently planted in honor of Sophie

She found a pumpkin just her size

Feeling the pumpkin she helped carve

Ready to get some candy!

Ready to go trick or treating

Never to be ignored...Bella would prefer to be the center of attention, though she knows who is in charge

7 Months Old!

On October 12th, Sophie turned 7 months old!  It's amazing how much she changes month to month...though her strength is slowly decreasing, her mind is advancing rapidly!  Sophie knows that she is 'in charge' and lets us know in her own way if she wants something.  At the same time, she does this in the sweetest way possible:)

For Sophie's 7 month birthday, we celebrated by going to a pumpkin patch.  Though it isn't Halloween yet, we decided to dress her up anyways.

She's ready to go!

Biggest pumpkin ever?

Sophie picked a good pumpkin to bring home

Checking out the animals

Sophie may have been a little scared of this guy

And she's out after a short trip to the pumpkin patch!

NG Tube

Sophie is nearing her seven month birthday, and she has begun to lose more strength over the last few weeks (which is often seen with babies with SMA in the 6-7 month timeframe).  Not only is Sophie's strength declining, but also her ability to efficiently eat (suck/swallow).

On Friday, October 7th, we decided to have a nasal gastric ("NG") tube put in for Sophie.  An NG tube is basically a small plastic tube which leads from the nose to the stomach, which allows us to give Sophie food directly into her stomach.   The few weeks prior to the NG tube placement, eating had become more and more difficult for Sophie and she was getting less and less food.  This led her to often being uncomfortable and irritable.  After the tube was placed, we were able to administer food through the tube without her using all of her energy to eat.  After the first feed with the NG tube that afternoon, she was immediately much more comfortable and back to her normal happy, smiley ways!

Sophie sporting her new NG tube

Her NG tube doesn't seem to bother her as evident by her smiles

Playing on the iPad...though Sophie has only a little movement in her arms, she is able to use it on the touchscreen of the iPad...here she is playing a piano iPad app

Kind of tough to see, but this is Sophie asleep while being fed through her NG tube...Liz is holding her food in a tube, which goes through the tube into Sophie's stomach...Sophie still gets her cuddle time while getting her feeding!

With the beautiful weather this week, we decided to take Sophie to the beach

Sophie, Bella, and Daddy

Sophie and Mommy

Once again, we'd like to thank everyone for their kind thoughts and support.  Our friends, families, employers, colleagues, and Sophie's healthcare providers have all been so supportive and understanding.  We'd also like to mention a special thank you to everyone in the SMA community... you have been an incredibly helpful and supportive group in every step in our journey (as only you would understand), and we hope we can give back to others in the future like you have all helped us so far (and we're sure that help will continue in ways we can't yet imagine in the future).

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