House overwhelmingly passes bill to speed FDA drug approvals

A bipartisan bill that would make significant changes to the process for developing new drugs and medical devices overwhelmingly passed the House in a 344-77 vote Friday morning.

The bill, called 21st Century Cures, was cheered by rare across-the-aisle support from politicians, with 230 co-sponsors nearly evenly split between Democrats and Republicans. The pharmaceutical industry, patient advocacy groups, and medical organizations also support the bill, which calls for an additional $8.75 billion for the National Institutes of Health.

21st Century Cures Roundtable at Western Michigan University

Eric and I were honored to be able to attend the 21st Century Cures roundtable October 7th 2014 at the Western Michigan University Homer Stryker M.D. School of Medicine.

We were excited to meet Dr. Francis Collins, the Director at the National Institutes of Health (NIH). We were surprised when he already knew about our family and our "Princesses." He was very understanding about the disease (SMA) and compassionate about our daughters.

As National Institutes of Health (NIH) Director Dr. Francis Collins says, "We've never been in more exciting times scientifically than we are right now - But there is no time to waste… Medical illness should not be a political issue. It is an issue for ALL of us." Dr. Collins recently took part in the 21st Century Cures Roundtable Western Michigan University Homer Stryker M.D. School of Medicine. The ‪#‎Path2Cures‬ bipartisan initiative, lead by Chairman Fred Upton, increases national focus on the steps that can be taken to accelerate the cycle of cures. View the entire roundtable video here.

House Energy and Commerce Committee Press Release can be viewed here: http://www.mlive.com/news/kalamazoo/index.ssf/2014/10/post_404.html#incart_river

MLive Article can be viewed here: 

http://www.mlive.com/news/kalamazoo/index.ssf/2014/10/post_404.html#incart_river

Eric and Sarah with Dr. Francis Collins, Director of the National Institutes of Health.

Spine X-Rays - Improvement!!

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Next up on the docket for the new year and new evaluations was an appointment with our pediatric orthopedic specialist. He took X-rays of the spine to look for curvature. I have been told that when a child has SMA, it’s not a matter of IF the child will get scoliosis, it’s a matter of WHEN. So we want to keep a close eye on the spine.

SMA is a progressive disease so we don’t expect to hear good news at doctor appointments. BUT, the doctor told us that Brielle has actually IMPROVED since her X-ray taken in 2011!! What a blessing!! Brooke has stayed the same (no curvature) so far. She was a little wiggle worm on the X-ray chair so I’m not sure they got the best picture. :)

The new year means new sleep study

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We started out the new year with a sleep study. The girls had to sleep in different rooms but after they got all hooked up with wires, Brooke’s nurse let her go into Brielle’s room to so they could see what the other one looked like.

They both looked at eachother and said, “you look funny!”

They both slept pretty good and the nurses both said they got all the info they needed to give to the doctor for his review! Whew!! We should get the results back in about 2 weeks.

“A sleep study may help to determine whether or not there is an obstructive component (due to low muscle tone or enlarged tonsils or adenoids), or whether nocturnal hypoventilation (shallow-breathing resulting in low oxygen levels or increased carbon dioxide levels) is present. BiPAP is often recommended for use only at night, but can be invaluable to use for longer periods of time when an upper respiratory infection or other illness results in increased work of breathing and fatigue.

Children with SMA Type I, and some children with Type II, have very weak breathing during sleep, with short and shallow breaths, and poor oxygen and carbon dioxide exchange (hypoventilation). When this happens, the child has too little oxygen and too much carbon dioxide in the body.

When oxygen levels are too low and carbon dioxide levels are too high, the body cannot function normally. To prevent hypoventilation, some children need mechanical breathing support while they are sleeping to help them rest their breathing muscles. If they become sick with a cold or flu, they may need this support even while awake.

With improvements in oxygen exchange and better sleeping, children with hypoventilation may have less nighttime sweating, fewer headaches, better appetites and weight gain, and better concentration.

There are 3 ways to help children with SMA breathe while sleeping. These include

use of BiPAP, mechanical ventilation, and negative pressure ventilation (NPV).” -FSMA.org

Sleep Study - Check Respiratory Function At Rest.

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Dec 30, 2011 Brooke and Brielle had their first sleep study done to check their respiratory function during sleep to get a baseline assment.  It will take 10 days get get results.  Please pray for good results!

“A sleep study may help to determine whether or not there is an obstructive component (due to low muscle tone or enlarged tonsils or adenoids), or whether nocturnal hypoventilation (shallow-breathing resulting in low oxygen levels or increased carbon dioxide levels) is present. BiPAP is often recommended for use only at night, but can be invaluable to use for longer periods of time when an upper respiratory infection or other illness results in increased work of breathing and fatigue.

Children with SMA Type I, and some children with Type II, have very weak breathing during sleep, with short and shallow breaths, and poor oxygen and carbon dioxide exchange (hypoventilation). When this happens, the child has too little oxygen and too much carbon dioxide in the body.

When oxygen levels are too low and carbon dioxide levels are too high, the body cannot function normally. To prevent hypoventilation, some children need mechanical breathing support while they are sleeping to help them rest their breathing muscles. If they become sick with a cold or flu, they may need this support even while awake.

With improvements in oxygen exchange and better sleeping, children with hypoventilation may have less nighttime sweating, fewer headaches, better appetites and weight gain, and better concentration.

There are 3 ways to help children with SMA breathe while sleeping. These include

use of BiPAP, mechanical ventilation, and negative pressure ventilation (NPV).”  -FSMA.org

Brooke and Brielle were able to have the sleep study done on the same night and they slept in different rooms.  They were both very brave while the nurses put all the electrodes on their legs, neck, faces, and all over their heads.  It took quite a while to fall asleep and they both woke up a few times during the night and got scared because they didn’t know where they were.  Luckily mommy and daddy were able to be right there to calm them down.  The nurses said they had enough data for the doctors to analyze, now we just sit back and wait for the results…

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Update

on 2012-02-14 20:19 by Sarah

The sleep study results are in… Brielle has “normal” function and we are so relieved because she was the one that we were the most worried about.  We figured that Brooke’s results would come back normal as well because we didn’t think she had any problems worse than Brielle.  Well, we were wrong.  Brooke’s sleep study results came back with “minimal sleep apnea.”  Our local neurologist noted that we shouldn’t do anything for now and just re-test in one year.  In talking with other SMA families and our specialist out in Utah, they all recommended that we get a bedside pulse oximeter machine to monitor Brooke’s heart rate and oxygen saturation levels during the night and also make sure to get a bi-pap machine to use during the night, especially when she is sick.  From what we have been told and what we have read, someone with SMA can go from bad to REALLY bad in a very short time.  So now we need make more doctor appointments to try to get these new machines for Brooke.  :(  Thank you again for all of your thoughts and prayers, it means so much to us and helps us get through the tough days of living with SMA.