Stop SMA Clinical Trial - Univ of Utah. Visit #8

Aug 18, 2011

This was our last trip to Utah and it couldn’t have come at a better time.  Brielle and Brooke had some blood work drawn last week and Brooke had some concerning results.  The ones most concerning were her low white blood cells, high thyroid and very low platelets.  This can occur as a result of a separate disorder, such as leukemia, bone marrow failure, an immune system problem or as a medication side effect.  Dr. Swoboda took Brooke’s lab work very seriously and placed her under a “fall risk” right away.  If Brooke accidentally fell it could be life threatening because her blood will not clot. 

Brooke started the day with EMG testing.  She’s done this so many times that she knows how to do it herself!  :)  This records the electrical activity from the brain and/or spinal cord to a peripheral nerve root (found in the arms and legs) that controls muscles during contraction and at rest.  Dr. Swoboda specifically looks at compound motor action potential (CMAP) and Motor Unit Number Estimation (MUNE) scores. It it known to be a painful test but with sedation Brooke handles it very well. Then after this is finished, she gets some blood drawn to monitor medication levels and see if anything has changed since her last blood draw a week ago.

At this visit, her CMAP and MUNE scores have tripled since November 2010! Yay!!  The bad news is that her medications levels could be too high and causing this and unsafe to continue at these levels.  Brooke will have more blood work taken early next week to see if the medication is responsible for the abnormal bloodwork or if there is something more serious happening called chronic “idiopathic thrombocytopenic purpura (ITP).” Idiopathic means unknown cause. ITP occurs when the immune system mistakenly attacks and destroys platelets.  They would then have to check her bone marrow to see what is going on. 

Right now, we will just take one day at a time and see how her blood work comes out next week.  We are praying so hard that it is just the medication causing the abnormal labs.

On a good note, Brooke’s DEXA bone scan revealed steady incease of bone growth and is very close to “normal” for her age!!

 

More pictures from our visit:  

BruisingPlaying in the cribMessing with the blood pressure machine. :)Me and Brookie in the Children’s play area. Couture to Cure SMA Clippie (Etsy) 

Stop SMA Clinical Trial - Univ of Utah

Nov 10-12, 2010

This week, Brooke and I made our 7th trip out to Utah for her clinic visit! This marks the end of her clinical trial and they tell us that this is her last visit (please read the bottom of this post). This makes me feel sad because I feel like we have gotten to know the staff and nurses at the CCTS very well. It was just 8 months ago that we were here for routine clinic visit and we ended up staying for 10 days due to emergency G-tube surgery. It was a surgery that was very much needed and we don’t regret it one bit. It has made Brooke’s quality of life so much better and improved her overall strength and wellness. Before she had surgery she just hit the 15 pound mark at 15 months old. Today she weighed in at 20 pounds 3 ounces and we are all very happy with her progress!! She is improving in every test that she did here at the clinic. I’d like to walk you through what we do during our visits… some of the fun stuff and some of the not so fun stuff.

This time we had three flights to get here with two very short layovers. Brooke is a seasoned flyer and is very content to fly, most of the time she sleeps. She got some junior wings from the Delta flight crew and loves sporting them on her jacket. 

When we land, we have a taxi service take us up to the University of Utah Hospital and we stay in a unit called the CCTS and it’s like a hospital room and Brooke gets to sleep in a metal crib. I always worry about her hitting her head on the metal bars but I think she likes to think of it as a jungle gym.

During our stay the nurses continually take Brooke’s blood pressure, monitor her blood-oxygen levels, temperature and heart rate. 

The next morning Brooke starts her day with Physical Therapy, then after that is her clinic visit with Dr. Swoboda and last she has a DEXA bone scan.

So we find our way in this giant hospital with great views of the mountains (covered in snow already!)

Physical Therapy with Janine starts and Brooke tries to do all the things on the Hammersmith Functional Motor Scale. Her score increased 3 points from her last visit in July! Yay, Brooke!!

Physical Therapy Evaluation

IMG_7436.JPG

Next comes the really hard part… for the patient and for the mommy. Brooke gets sedated for EMG testing, this records the electrical activity from the brain and/or spinal cord to a peripheral nerve root (found in the arms and legs) that controls muscles during contraction and at rest.

Dr. Swoboda specifically looks at compound motor action potential (CMAP) and Motor Unit Number Estimation (MUNE) scores. It it known to be a painful test but with sedation Brooke handles it very well. Then after this is finished, she gets some blood drawn to monitor medication levels. At this visit, her CMAP and MUNE scores have improved since July! We’ve noticed an increase in hand tremors with Brooke lately and Dr. Swoboda said that can be a good thing! They have noticed this happening when the motor neurons reinnervate!

EMG Testing

With Sedation  :(

With Sedation  :(

Not a happy camper.  :(

Not a happy camper.  :(

Now that she is completely exhausted (and six hours later) it’s time for a bone scan. She is mad at the world and wants everyone to leave her alone and will not lay still so the bone scan is a bust and we have to come back and try again when she naps. If you have a little one you know what I mean when I say that I’m thinking, “yeah right” because at this point I would like her to take a peaceful, quiet nap in her crib for hours. She ended up falling asleep on our stroll back to our room so I just turned around and went back and she slept right through the the whole scan! You can see the picture of her scan on the computer screen in the picture. Pretty neat stuff. Brooke’s bone density has also increased since our last visit in July Dr. Swoboda is very pleased with all of her results from this clinic visit!! Hooray!!

DEXA Bone Density Scan

DEXA Bone Density Scan

DEXA Bone Density Scan

Brooke's DEXA scan in progress...

Brooke's DEXA scan in progress...

Dr. Swoboda said that the best results from the medicine that Brooke is currently taking (VPA) show 1 year after initial dosing. That would be around March 2011 for Brooke (we switched from PBA to VPA) and she would really like to see Brooke in the clinic next year around April 2011 to see her numbers and will be making this possible with funding from the foundation STOP SMA that generously donated money to this specific clinical trial called Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy (STOPSMA).

So our family would like to say a special thanks to all of you that voted in the Pepsi Refresh contest for STOP SMA to win funding for research directly impacting us!! Our family feels that Brooke has benefited from this clinical trial and has made her stronger and helps researchers prove that early intervention with medication helps to improve overall motor function. We hope that researchers can build on this information and help all children born with SMA in the future!

Update on Brielle and Brooke - Clinical Trial Visit

Brooke

is in a clinical trial at the University of Utah called STOP SMA under the direction of Dr. Swoboda. For this trial we visit every 3 months.

There are three specific things she has to undergo each visit:

Electromyography Test (EMG) testing: It records the electrical activity from the brain and/or spinal cord to a peripheral nerve root (found in the arms and legs) that controls muscles during contraction and at rest.

a. Specifically compound motor action potential (CMAP) and Motor Unit Number Estimation (MUNE) scores.

DEXA Bone Density Scan

Physical Therapy Test: Using the Hammersmith Functional Motor Scale For Children With Spinal Muscular Atrophy

Since our last visit in March 2010 Brooke has increased her CMAP and doubled her MUNE scores! This is really exciting because she had a BIG drop in March so Dr. Swoboda has been able to recover some of that motor neuron loss. Brooke’s nutrition has been a major factor in this. The feeding tube has really helped her gain weight and strength the past 3 months. She scored very high on the physical therapy test.

Brielle

is part of the sibling/compassionate study with Dr. Swoboda and is seen once a year so this was her second visit to the clinic. She goes through all the same testing that Brooke does and also did very well on the physical therapy test. Her bone density has increased 22% which is exceptional and we attribute that to all the standing she does and walking in her gait trainer and her Standing Dani. The Standing Dani is an excellent piece of equipment that really helps Brielle get standing time in and be able to “run” and keep up with her friends outside. Her EMG showed that her CMAP and MUNE scores have dropped quite a bit but we are hoping to recover some of the loss through an increase in medications. Dr. Swoboda reminded us that her rapid growth can cause the loss in motor neurons like what happened this time and she has grown quite a bit in the past year! We have to look at the overall picture of how well she is doing and keep trying our best to keep up with all the physical therapy/nutrition and medications so she can be in the best shape she can possibly be in.

More info about testing can be found here: http://smaoutcomes.org/hammersmith_manual/manual_1.html