About

We’ll use this blog to keep you up-to-date on Emma’s progress as she grows, thrives and beats this challenge.

A bit of background…

On Monday, October 23, 2017 we received some bad news.

Our 8-month old beautiful granddaughter, Emma Grace, Mark and Erin’s first little girl, has had some developmental challenges in her short life. She’s suffered slow development in muscle tone making it hard for her to keep her head up and she’s still unable to roll over or sit on her own. She’s been slow to reach and grasp and is still unable to put weight on her little legs.

Monday we received the results of her genetic testing and she’s been diagnosed with Spinal Muscular Atrophy – Type 1, or SMA-1. It’s a very rare, very serious disease that affects her muscles.  This is a great whiteboard presentation on SMA.

So SMA is caused when a specific gene is missing in a person’s DNA. The gene (SMN1) is what produces the protein that our muscle neurons need to stimulate our muscles to work.  Emma has none of that gene. One in 40 people in the general population has the genetic defect, but because of the way genetics works, only about 1 out of 100,000 babies are born with SMA.

SMA-1 babies are not able to sit, stand or walk on their own. Because their muscles aren’t being worked, they tend to wither and die (atrophy). In the past, due to their weakened respiratory and digestive muscles, many died within their first two years due to complications in their breathing. Most passed away before their 4th birthday. Today, with improved supportive care and better medical device technologies, many survive well beyond that range.

We did get some good news…

As the video mentions, there’s a backup version of the SMN1 gene in our DNA (SMN2) that is almost identical to SMN1 except it’s very inefficient and doesn’t produce much of the protein.  Most people have 2 of the SMN2 genes… Emma has THREE so that’s good news.

We’ve spent time almost every this week at the Seattle Children’s Hospital and they’re all over this. Emma had her first physical therapy session on Tuesday and was assessed by the pediatric pulmonologist (is that a word) to check her lung capacity. This is important because Emma’s being prepped to begin treatment with a newly approved drug called Spinraza (nusinersen). The team at Seattle’s Children Hospital have worked with Mark and Erin to submit all the paperwork and documentation to get Emma approved by Biogen (the company that developed and sells Spinraza) and Mark’s health insurance provider. You heard about the new drug in the video above. It was just approved by the FDA on December 23, 2016. They fast-tracked the approval because of the very significant results they observed in the initial testing. The clinical trials resulted in major musculature improvements in about 40% of the SMA patients.

Emma is scheduled to have her first lumbar injection on Tuesday, next week.

Here’s a good, more technical, video on Spinraza (nusinersen) and how it works.

Let me net it out for your… Spinraza works by smackin’ the SMN2 genes up side the head to smarten up and start producing more of the protein the muscle neurons need.

And remember… Emma has not one, not the usual two, but THREE of the SMN2 genes.

Also, Emma successfully fought off a cold and congestion which the doctors at SCH were VERY excited about. Apparently most SMA kids that get colds end up the hospital which where they’re diagnosed with SMA.

Finally, the doctors were very impressed with how well she’s able to hold her head up, moving it side to side to smile and sing to everyone. They’re also happy with how much food she’s ingesting each day which can be a challenge for SMA kids due to their degraded chewing and swallowing muscles.

SMA kids have full brain and sensory functions. Emma will be able to talk and sing as long as her vocal muscles hold up. These kids tend to be overly intelligent, sensitive and social… all traits we’ve all seen in Emma already.

Erin will stay at home to care for Emma, the whole family is getting flu shots this weekend and we’ll restrict Emma’s exposure to the outside world to protect her from any respiratory or other illnesses.

That’s it for now.

Oh, I almost forgot… Mark and Erin’s neighbors, Shannon and Michelle have setup a GoFundMe campaign to help with all of Emma’s upcoming expenses.

Check it out at:  http://www.gofundme.com/EmmaStrong2017.