She did it!

Tuesday Emma celebrated her first birthday. One whole year… 365 days. Lots of shots, lumbar punctures, doctors that make you cry… but also tons of smiles, giggles and “Hey!”s.

The family held a birthday party in the driveway to celebrate on Sunday, Feb 18. Snow was in the forecast and we could almost see the snow line descending from the surrounding foothills.

All the preparations were ready, the snow let up, the sun came out and the cupcakes made it intact…

Emma had on her party tutu, all the neighborhood kids showed up and Emma made a grand entrance…

The crowd was a bit larger than Miss Emma was used to and she was a little overwhelmed by it all; especially with her birthday candle blowing out and everybody singing that loud “Happy Birthday” song.

But after retiring with Dad she watched the crowd from her bedroom window and issued an occasional “princess wave” to her admirers.

 

Afterwards she relaxed with Grandma on the couch…

… but really didn’t enjoy wearing that birthday hat.

But as her mother pointed out on FB… “It’s my party and I’ll cry if I want to!”

Onward and upward!

It’s been a while since we’ve updated the blog so we thought it might be a good time to pass on some updates on Emma’s progress. We’re still awaiting the data gathered at the SMA Clinic at Seattle Children’s Hospital in mid-January… we’ll pass it along when it arrives.

You may remember that she completed her Spinraza loading doses on December 28 and is scheduled to have her first maintenance dose in mid-April. That first maintenance dose is rumored to result in even more significant improvement.

But in the meantime… something’s going on with Miss Emma.

It may be Great-grandma Tess or Grandpa Doug watching over her from above. Or it may be all the prayers, good wishes, thoughtful acts and incredible love and support Emma and her family have received from everyone…

But whatever it is, something incredible is happening here.

Watch and enjoy this day in the life of Emma!

Hey!  I’m awake!

Good morning everyone!

Off to the pool.

At aqua therapy, getting ready to ROLL!
The pacifier is necessary to prevent SOMEONE from licking up all the water in the pool.

And away she goes… Watch this video and see what happens with the instructor says, “Are you ready?”.

Ready, set, GO!
Emma is putting more and more weight on her legs in the pool!

Well THAT was fun!

Time for a walk

It’s really cold!  It must be below 50 degrees!

Lunch at Grandma Kathy’s

Feeding system hanging on Grandpa’s reading lamp!

Hanging with Robyn’s cat, Milo

Both watching Harry the Bunny on Baby’s First Friends TV.

Reading time.

Would you like me to read to you?

Time to go to work

Emma grabs her toys, bounces a bit and bangs things around. She can keep it up for 15 minutes or so.

Relaxin’

Sitting on Mom & Dad’s bed. Emma can sit on her own now for longer and longer times.

Notice Joy the Killer Cat watching over Emma?

Sitting in her chair, waiting for dinner

Getting ready for bedtime…

Reading to Dad after the bath.

Drifting off the best way… on Mom with her giraffe BI-PAP. Binky’s popped out!

As you can see, Emma’s a busy little girl. Her first birthday is coming up this month and we’re all looking forward to even more smiles, giggles and the odd “HEY!” yelled from her crib.

Thanks again for all the love!

Every 6 months or so Seattle Children’s Hospital has what they call “SMA Clinic”. That day all the families with SMA kids come in for an afternoon of clinic appointments. Yesterday, January 10, 2018 was Emma’s first one. She was accompanied by her parents, Mark and Erin and her local grandparents, Jerry and Kathy.

The day started off with an informal luncheon “meet & greet” where the families get to spend time with each other and get caught up on each family’s triumphs, setbacks, accomplishments and news. It’s really neat to meet face-to-face with families that we’ve been corresponding with on social media.

We caught up with Audrey and her Mom, Stephanie. Audrey was sporting an incredible tutu for the day.

Isaiah brought his Mom, Anastassia who helped Isiah show off some of his upside-down gymnastics.

Emma wasn’t sure she wanted to participate in that!

Ummm…. Dad, DO NOT do that to me!

After lunch, each of the family teams checked into their own examination room for the afternoon.  Over the next 4.5 hours ten or so specialist teams came in to meet with Team Emma. They spanned the areas of  Physical Therapy, Occupational Therapy, Nutrition, Rehab, Pulmonary, Social Work, Genetics Counseling, and an MDA rep.

First Emma had all her vitals checked. She’s put on almost a pound since she started on tube feeding and has moved up to 55th percentile on the weight charts.

The PT folks ran her through the Children’s Hospital of Philadelphia’s Infant Test of Neuromuscular Disorders (CHOP INTEND Whew!) This was the same test that Emma took before her Spinraza treatments began so the results will be a great measure of her progress. We’ll get the results in a couple of weeks and will let you know. There was lots of very positive feedback on how far Emma’s progressed. She did great, although she did need a some encouragement from Dad and Grandma to “strut her stuff” for Dr. Sarah.

Oh… OK… You want me to reach for Kitty!

The OT specialist talked with us about the various devices and technology available through the hospital and donating organizations that will help Emma as she grows and deals with real life. It’s a pretty incredible list: everything from neck braces for Emma to support her head while Mom’s driving around town; to play trays and “tomato” chairs; to support vests to help Emma maintain her posture.

Then Dr. Alexis from the Rehab team spent some time reviewing Emma’s Spinraza treatments history, discussing next steps and, of course, playing with Emma a bit to see for herself how far Emma’s come along.

It had been a long afternoon already and Grandma Kathy had to make a run to the hospital cafeteria to buy more food pouches for Emma and snacks for the rest of us.

Hmmm…   Good!

Next was Dr. Cam who reviewed Emma’s nutrition specs, answered a bunch of questions about Emma’s tube feeding process and schedule. She made a number of suggestions as to how Mark and Erin can move Emma up to the next feeding plateau.

Then it was a visit from the SCH Social Work team. They offered all kinds of help and support for various logistical and social challenges… everything from getting Erin a Handicapped hanger for her car to making arrangements for a service dog for Emma when she grows up a bit. There are almost too many options and the choices are sometimes overwhelming.

A quick visit and update from Kiko, the scheduling nurse and then we saw the local hospital rep from the Muscular Dystrophy Association. We talked about all the different volunteer opportunities we’ll have once we get some spare time back.

Next up was the Hospital Genetic Councillor, Dr. Katie. She reviewed the genetic process leading to SMA and explained how genetic engineering is making huge strides in gene manipulation to cure diseases like SMA. She also answered many questions about how genetics might work for future offspring and then captured all of Mark and Erin’s sibling  data and hereditary information for future reference.

The last team was Dr Chen and the Pulmonary team. Emma had been having some issues dealing with her BI-PAP and Dr Chen was able to answer all their questions and had a bunch of great suggestions. She was very complimentary of how well Mark and Erin have been adapting to Emma’s nighttime challenges. We thought we were home free but Dr Chen wanted to show us how Emma’s Cough Assist machine would work. It’s essentially a stronger BI-PAP machine that will PUSH air into Emma’s lungs, then strongly PULL air along with phlegm, mucus and other nasties OUT! They set the inhale/exhale pressures, then pressed the mask to Emma’s nose to see if she could activate it. Boy, did she ever! What we didn’t realize is that if there is no phlegm, mucus and other nasties present, then the sucking out part… really sucks!  Emma let us all know how well her lungs worked right after that test.

Then it was time to pack everything up and fight the traffic home.

Emma was up till about nine o’clock playing with Dad, then slept all night.

The whole day was like drinking from a fire hydrant,
but it was a great experience.

 

In the United Kingdom (and former English colonies) the day after Christmas is known as Boxing Day. There are lots of different stories about how December 26th became Boxing Day. The one we like best is that in Merry Ol’ England all the rich families would attend Christmas services on the 25th. The next day the churches would open all the alms boxes and distribute the money to the poor… Boxing Day!

Since our family has a strong Canadian heritage, Boxing Day has always been a special day for us.

This year Christmas Eve, Christmas Day and Boxing Day were especially special. Not only because it was the first one we got to enjoy with Emma but also because it was an incredibly beautiful Christmas here in western Washington.

The snow began on Christmas Eve afternoon and continued all the way to Christmas Day at around noon. All together we got about 4 to 6 inches of the white stuff. The last time it snowed here on both Christmas Eve and Christmas Day was in 1909! Way ta go, Emma!

After having an fantastic Christmas Eve dinner at Mark and Erin’s (beef bourguignon with Yorkshire puddings). We opened our Christmas Eve gifts. We were allowed only a single gift and, in the most bizarre coincidence, EVERYONE GOT NEW PAJAMAS!

On Christmas morning we all awoke to the most beautiful wintery scene.

Christmas morning Emma enjoyed her Christmas debut.

After all the excitement she relaxed beside her haul and the Christmas tree and aired her little piggies.

The next day, Boxing Day, it was off to Seattle Children’s Hospital for Emma to receive her final loading dose of Spinraza.

After her blood draw, Emma and Mark waited patiently under the watchful eye of  an Ocean Pavilion character.

It’s only a picture, guys!

The usual hospital staff was off on vacation and so the treatment team was an entirely different crew. Things turned out OK, but Mark and Erin had to exercise their advocacy rights to correct a couple of misconceptions by the hospital staff. That’s what parents are for, right?

Anyway, Emma got her fourth dose. She’ll now begin her Spinraza maintenance schedule with her first treatment sometime around the end of March.

Oh… and to round out the Boxing Day festivities, Mark got his fourth Spinraza box.

Here’s hoping you and your families had a great Christmas and enjoy a Happy New Year!

The night after Emma’s sleep lab test the medical team wanted to conduct a swallow test first thing in the morning. You may recall that Emma hadn’t eaten anything during the night and they wanted her “hungry” for the test Thursday morning so Erin didn’t feed her all morning.

Well, when Erin was finally able to offer our girl some food she PLOUGHED into it. I suspect all of the medical staff in the room likely took one big step backwards watching Emma go. They were all very impressed….

But, they also wanted to do a radioactive Barium swallow test to make sure that all that food was going down the right way. It didn’t taste too good in her formula and Emma tried everything she could think of to get it out. But Grandma Kathy persisted and down it went.

Emma getting ready for her Barium “treat”.

The x-rays showed that Emma was silently aspirating about half of all the liquids she was consuming. Half of what she was drinking was going into her lungs and not her tummy! That was extremely dangerous as it posed choking, aspiration and infection risks. It also explained why Emma hadn’t been able to put on any weight over the last few weeks.

The medical team explained the risks and the next step.

Emma would get a nasogastric tube. It’s basically a thin tube that goes up Emma’s nose, through her nasal cavity, down her throat, through her esophageal sphincter and into her stomach. So much for old “over the lips and through the gums….”.

They admitted Emma and Mark left work to join Emma, Erin and Grandma Kathy in the beautiful new Forest complex at Seattle Children’s Hospital. It would be Emma’s home for the next few nights. The team ran a few tests and then placed the NG-tube without too much trouble.

Since Emma was there for the weekend so they could monitor her NG-tube, they thought it would be a good idea to also fit her for her new bi-pap headgear so she could get used to it at the same time. Sounded like a good idea… at the time.

Emma wasn’t very impressed with the headgear, to say nothing of trying to sleep with the G-tube in place.

Emma after her first night wearing her bi-pap headgear and her new NG-tube.

Mark and Erin learned out to use the feeding pump and put in Emma’s NG-tube. It only has be changed every 30 days or so, but it’s not uncommon for a baby to yank it out.

Later on Saturday, Emma demonstrated how she can eat solid food while still sporting her NG-tube.

Grandma helping Emma eat.

And it tasted GREAT!

Later Emma hung out for a while in bed

Almost sitting up, with a bit of help from Dad.

Then relaxed in the cool hospital bathtub before getting ready for bed.

Emma with her cow, G-tube and strategically-place wash cloth.

The family was discharged on Sunday. They hauled all their new stuff home and all enjoyed a big sleep.

Emma is on a 12 hour drip at night and during the day has 3 bolus (meal-time) feedings that take about 30 minutes each. Emma has now had two nights on her new overnight feeding schedule and is already sleeping a lot better.

There’s a lot paraphernalia that goes with the NG-tube (bottom-left). 

Seattle Children’s Home Care will be visiting Emma sometime this week to bring her bi-pap machine and to get it all setup and calibrated for Emma’s use at night and for naps.

As all know, Emma is resilient and adaptive – she will do great with these new changes. We are grateful that for the most part the feeding tube and bi-pap are proactive preventive measures and that we aren’t in the position of having to add them to her care while she’s sick with a respiratory infection and reliant on them.

Wouldn’t ya know it… Yesterday Emma pulled out her feeding tube right in front of both of Mark and Erin. Erin successfully got it back in on the first attempt.

Erin’s learned a great trick. If she needs to leave Emma for a moment she puts a sock on Emma’s hand. It keeps her occupied for a few minutes wondering where her hand went and keeps her from yanking out her NG-tube.

The things you learn…. and the way we all adapt!

 

 

Tuesday night (Dec 12-13) Emma had a long, restless night. She hardly slept and showed signs of difficulty breathing… really shallow inhales and rapid exhales. Mark, Erin and Emma were up all night.

SMA affects the muscles for breathing as well as the muscles for moving the arms and legs.

From a paper, Respiratory Care of SMA and Choices provided by Cure SMA and written by Mary Schroth, MD – University of Wisconsin Children’s Hospital…

“The muscles important for breathing include the intercostal muscles and the diaphragm. The intercostal muscles are the muscles between the ribs. These muscles help to lift up and expand the shape of the rib cage thereby helping the lungs to inflate. The diaphragm is the large muscle at the bottom of the rib cage. The diaphragm works by pulling the rib cage down in an almost opposite direction of the intercostal muscles, and also helps the chest wall and lungs to expand causing air to fill the lungs. What you see in someone without SMA is that the ribcage inflates with air at the top of the ribcage as well as at the bottom of the ribcage during inhalation.

“SMA causes very weak intercostals muscles, the muscles between the ribs. The strongest breathing muscle in SMA is the diaphragm. As a result, children with SMA type I and type II appear to breath with their stomach muscles. The belly or abdomen pooches out while they take a breath in. The top of the rib cage does not appear to move. In infants less than a year of age, the rib cage is very soft even though it consists of the ribs, which are bones and cartilage. Over time the rib cage may appear as though the bottom of the ribcage is pulled down. This gives the appearance of a bell shaped chest meaning that the top of the chest is narrow and the bottom of the chest is much wider. Sometimes the area of the sternum or the bone in the front that the ribs attach to becomes sunken. This is called pectus excavatum and happens because the intercostals muscles are not strong enough to help pull the top of the rib cage out against the diaphragm that is pulling down.

“During sleep, the muscles relax including the muscles for breathing. During normal breathing, we breathe in oxygen and exhale carbon dioxide. When someone who has muscle weakness falls asleep, their muscles for breathing also relax and their breaths become more shallow. Sometimes those breaths become so shallow that they do not inhale adequate oxygen and they also do not exhale enough carbon dioxide. This is called hypoventilation. As a result, their oxygen saturations during sleep may drop to less than 94% and their carbon dioxide level may increase.”

So Wednesday morning Erin checked with Dr. Alexis who referred Emma for sleep study at Seattle Children’s Hospital. The sleep clinic had a late cancellation that very day and so Emma was off with her overnight bag to her night in the sleep study lab. There was room for only a single parent so Erin took Emma (with help from her support team – Grandma Kathy).

After checking in at 6:30 pm, the lab techs put about 20 different monitoring leads on Emma’s face, head, hands, chest and feet .

Wow!

The techs were very quick and were extremely impressed with Emma’s smiley reactions.

For some strange reason, she seemed to actually enjoy the experience.

Unfortunately, the leads on her chin were JUST out of reach of Emma’s best efforts at licking them off.

Darn it! Missed again!

Finally all the leads were connected and she was ready to go!

Can you believe all this attention I’m getting?

Then it was lights out and time for all good little Emmas to go to sleep….
Right away…
… hmm, OK… maybe after a bit.

Finally, at around 10:30 pm, she drifted off.
She woke up every 45 minutes or so over the next few hours, then finally slept until about 6:00 am.

Then Grandma showed up again to fix Emma’s hairdo.

YAY!  It’s Grandma Kathy! Look what they did to my hair!

We were told she was the best “behaved” baby there that night and cried the least. No trophies or prize money, but we’ll take it!

The Results

Emma demonstrated disrupted oxygen an average of 8.8 times per hour. At times her O2 level dropped as low as 72%. Typical babies experience 1 or less disruptions per hour – but some SMA Type 1 babies are up to 40 times an hour. So we aren’t at a critically urgent point yet.  However, Emma is considered moderate and so we are moving quickly.

Emma will be fitted for her own BiPAP Friday morning and we should receive it within a day or so.

From the same source as cited above…

“BiPAP refers to bilevel or two level positive airway pressure. This is usually delivered through a mask over the nose. BiPAP provides a higher pressure and volume of air into the lungs during inhalation and inflates the lung greater than what the person can do without the BiPAP machine. During exhalation, the BiPAP pressure drops so that air can passively leave the lungs. The BiPAP machine can sense when the person is taking a breath and gives the breath in synchrony with the individual. A respiratory rate is also set so that the BiPAP gives a minimum number of breaths per minute. The person can breath above that rate and the BiPAP will deliver more breaths.”

Emma is in the 98% percentile for head size so we shouldn’t experience a common problem for babies of the mask being too big. It will take a few weeks for Emma to get used to it (probably longer for Mom and Dad) but then she should sleep at night for nice long stretches….
Mark and Erin have heard rumors of 9-11 hours of uninterrupted sleep!

That may be wishful thinking… but stay tuned.

Just a quick update on how the battle goes.

Emma’s last pediatric checkup had some good news and some so-so news: The good news is that she’s growing like a weed. Apparently she’s stretched out 4 more inches since her last checkup. We suspect that it may have been a measurement error from the last checkup… but we’ll take it.

The so-so news is that she hasn’t put on any weight at all since the last checkup. She’s now 50th percentile for her age so there’s no cause for alarm, but Team Emma has gone to work and come up with some suggested solutions.

We saw in a couple of SMA news articles that avocados are particularly good to help stimulate muscle tone, are chock-full of healthy fats and have lots of calories. So Erin thought it would be a good idea to mash one up and feed it to Emma.

Not such a great idea! Maybe it was the texture.

Anyway, we’ve been experimenting with a higher percentage of formula powder in her bottles, adding yogurt (which she loves), both by spoon and to her bottles as well as moving her up to more fibrous food.

Let us know in the comments if you have any suggestions.

Meanwhile, Emma continues to expand her vocabulary, moving beyond the initial “Cow” and “Turtle” to something more meaningful… and useful.

Emma and Erin continue their aqua therapy sessions. They both have new swim outfits. Here’s Emma showing hers off.

That’s right! More pink flamingos

Emma’s next (and final) Spinraza loading dose is scheduled for December 28.

In the meantime, we’re keeping our spirits up, hoping for the best and enjoying all the beautiful smiles.

Emma received her third loading dose today.  She has one more loading dose that she’ll get on Thursday, December 28. After that it’s only Spinraza “topping off” every three months.

Mark’s keeping track to make sure we get our money’s worth!

The loading doses are designed to get a specific level of nusinersen into her blood stream. She needs to receive the dosages intrathecally (directly into her cerebrospinal fluid (CSF)) since the genetic material used to carry the nusinersen is unable to cross the blood/brain barrier. Otherwise Emma could receive the dose via a regular needle injection. As if there was any such thing as a “regular” injection!

Emma, all ready to go.  BRING IT ON!

The puncture went well with Dr Russell hitting the target on the first try again. This time there was a bit of bleeding so Emma got a little bandage badge.  After that it was just business as usual for Team Emma… a little alone time with Mom in post-op recovery, then a bottle with Dad and getting dressed to head home.

Emma had a little surprise for everyone today after Dad finished dressing her. He set her down in the recovery chair and Emma just SAT THERE! For about a minute!

That brought the crowd to its feet!

 

We have so much to be thankful for:

• Emma
• Spinraza
• Three SMN2 genes
• Emma
• Biogen
• Tylenol
• Seattle Children’s Hospital
• Emma
• Our loving friends and family
• Our hope and faith…
• Aetna insurance
• Pink flamingos

The other day we read a recent blog post by Brianna Albers. Brianna is a graduate student, an accomplished author, a blogger, a traveler… and has SMA. Her blog is called The Wolf Finally Frees Itself and is published weekly in SMA News Today.

This recent post puts an interesting spin on simply needing glasses.

Happy Thanksgiving everyone. What are you grateful for?

Yesterday was just a typical day at the office for Emma…

… answering the phone, meetings with her zoo animal toys, syncing calendars with Mom and bouncing in her palm tree jungle bouncer.

Emma working at her “stand-up” desk.

But after the day is done and all the work’s completed, there’s nothing better than relaxing with Dad at Happy Hour.

Notice that Emma’s holding her own bottle of beer… er, formula!

And tomorrow’s a holiday!

Thanksgiving dinner at Grandma’s!