Spinraza update

Callie has had three of her four loading doses of Spinraza. The second and third doses went well, although Callie had to stay overnight the third time around because her vital signs weren’t stable enough to go home.

We thought she would panic when she heard she’d be staying overnight, and her panic would have made her respiratory status even worse. But she actually said she needed to stay. For us, that’s evidence that God provides peace in all our hearts when it’s needed most. She steadily got better during the night and we went home the next day.

She’ll receive her next dose at the end of this month. But before then, she and I are taking a girls’ trip to the mountains (with Nathan coming along as well). Callie and I have a couple books to read together, and we plan to do what we always try to do — enjoy whatever each day brings.

Spinraza dose #1

Callie received her first dose of Spinraza this past Wednesday. Although there were no complications from the procedure, things didn’t go as planned and it was a traumatic experience.

After Spinraza was approved by the FDA a year ago, Nathan and I didn’t immediately pursue the treatment. We thought a lumbar puncture (the required route for the administration of the medicine) would be too stressful for Callie. Her body was so damaged by SMA already, there was not much reason to believe the benefits would outweigh the risks.

Eventually, we decided we should involve Callie in the decision. Yes, she’s only 8 years old, but it’s her body and her life. Anyone who knows Callie, or has kept up with our family, knows she’s terrified of all medical things. But she still wanted to try this procedure, knowing it would be uncomfortable and that there was a chance it might not even work. We were sure to point out that even if it did work for her, she still wouldn’t be able to stand or walk. We explained it might help her swallow better, hold her head up better and maybe breathe more easily.

We knew she would be anxious and upset — that’s simply how it is with most medically fragile children. But after hearing her cry for hours leading up to the procedure, then listening to her scream, “Why am I doing this? I just want to go home!” when the radiologist punctured her back, it was a crushing reminder of why we’ve chosen minimal medical interventions.

Callie will need 3 more doses of the Spinraza before we’ll know for sure whether it will help her. Despite her protests, we plan to have her complete this first cycle, with a sedation plan firmly in place before her next dose to minimize her discomfort.

We’re grateful for everyone’s support and will post more updates during this treatment cycle.

Moving forward

Callie is now a third grader.

Callie with her tea set at the beach

Callie with her tea set at the beach.

Over the summer, she spent her mornings eating waffles with syrup and toast drizzled with honey. She played Minecraft on the PlayStation with her brothers, went to Vacation Bible School, and played on the beach. I’ve also been reading aloud the Harry Potter series to Callie and her brother Peter. With a homemade wand in her hand, she goes back and forth pretending to be Hermione one minute, then Harry the next.

Over the summer we also learned that Callie has received approval for Spinraza, the new and only treatment available for SMA. The drug is administered as an injection into the spine and Callie would receive the injection several times a year for the rest of her life. We’re hoping to start her injections within the next couple of months. There’s no guarantee the medicine will help, so it’s been a difficult decision to make.

Nathan and I are always weighing the pros (potentially seeing a mild increase in Callie’s arm strength) against the cons (an invasive procedure that will require sedation) when we make medical decisions for Callie. We plan to move forward with the treatment because we think there’s a chance it can improve Callie’s comfort and quality of life.

Snack time at Vacation Bible School

Snack time at Vacation Bible School.

One thing that has had a significant impact on Callie’s level of comfort is the rapid progression of her spinal curvature, known as scoliosis. Although we know Spinraza cannot reverse the damage SMA has already done to her body, we recently got X-rays of Callie’s spine in order to examine the extent of the damage, as well as determine if there’s any kind of intervention that might allow Callie to benefit more from her Spinraza treatment.

We learned that a spinal curvature of greater than 40 degrees is considered severe. Callie’s curvature is 120 degrees. After discussing a number of scenarios with a pediatric orthopedist, who regularly cares for SMA patients, we had basically one course of action: Admit Callie to the hospital and infuse nutrition straight into her veins to try to improve her nutritional status. We’d then have to use halo traction, a procedure that would involve putting 12-15 screws into her skull, attaching them to a circular metal device above her head — the “halo” —with weights behind it to slowly stretch her muscles and spine in preparation for surgery.

Then, if she tolerated the halo traction and managed to gain weight, she could have back surgery with a tracheostomy placed. When we told the orthopedic surgeon we’d already decided against Callie having a tracheostomy, he said if we didn’t consent to a tracheostomy, he wouldn’t do the surgery. Based on his experience and research, she wouldn’t be able to come off the ventilator after surgery, so without a tracheostomy for breathing, he would be performing a surgery he knew would be fatal.

Nathan and I have done plenty of research on this topic, so none of this surprised us. But it was still very hard for me to hear. In the few months leading up to this orthopedic appointment, I had allowed my mind to drift towards things that might magically come true, thanks to Spinraza. I’d allowed myself to hope that Callie might even walk one day. Sitting there in the doctor’s office sealed what I already knew to be true — this dream of Callie’s, of our entire family, was impossible.

I’ve had to do my best to let go of that and move forward. After all, as Albus Dumbledore told Harry Potter, “It does not do to dwell on dreams and forget to live.”

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Happy 8th birthday Callie!

Callie enjoying our big snowstorm last month.

Callie enjoying our big snowstorm last month.

Callie is 8 today! She’s very excited about the big day, just like any 8-year-old would be.

Days like this remind us how normal our lives are, despite the time and effort Callie’s care requires. We have support from so many people — nurses, people who have given money, Hospice of the Piedmont, co-workers who generously prepare a meal for us every week.

We are grateful for this help because it helps Callie live a life that is not defined by her diagnosis. Life seems so normal that, sometimes, when someone asks how Callie is doing, it takes us a second to recall the details of her daily challenges.

This sense of normalcy has been disrupted over the past six weeks, ironically, by a piece of very good news. The FDA on Dec. 23 approved a treatment for spinal muscular atrophy. The drug, Spinraza, could be available for Callie this spring or early summer. Had this drug been available when Callie was younger, it might have rescued her from the devastating effects of SMA.

Now, though, SMA has twisted her spine. She has contractures, subluxations, almost no muscle mass. She is weaker and more vulnerable than ever. She can sit up for shorter time periods. She depends on her bi-pap machine for breathing support every day. This medicine has arrived too late to prevent these effects for Callie.

But her spirit is so strong, and we’ve learned not to underestimate Callie’s determination. So over the past few weeks, we have been considering whether this new treatment could help Callie even in small ways. We know it won’t reverse the damage SMA has done to her body. But could it help her stay in her power wheelchair longer, giving her more independence? Could it give her enough strength to sit up longer, which could enhance her quality of life by allowing her to interact more with friends and family?

callies-cakeOr would the treatment only slow the progression of her condition, requiring her to endure more pain with little or no benefit to her quality of life? There are no simple answers.

Next month we have an appointment with a neurologist, and we’re hoping he will provide some more information to help us determine whether this new treatment would be good for Callie.

Until then, she’ll celebrate her birthday with food from Barberito’s, one of her favorite restaurants, and a cake with a snowman family on it that Callie helped design. This coming week she’ll go to school hoping the cafeteria will serve her favorite lunch, beefy nachos. She’ll watch her favorite shows, Sofia the First and Phineas and Ferb. She’ll draw pictures, tell jokes, and live her life.

Second grade and summer recap

Callie at school

Callie on the first day of second grade

Callie is in second grade this year. Her nurse during the school day knows her well, and Callie has the same teacher her 8-year-old brother Peter had last year, so the transition has been smooth.

Callie’s spring and summer were filled with activities. The highlights for her were a trip to Carolina Beach in May and Vacation Bible School at our church in July. Callie loves to sing, even though it can make her really short of breath. We love to listen to her sing because she has such a classic, out-of-tune, child’s voice (video below).

This fall, just like last fall, Callie is a cheerleader. At first, we weren’t sure if it was worth the risk because she’s weaker and has more difficulty maintaining a comfortable position than she did last year. But not long before the season began, Callie said, “Why haven’t you signed me up for cheerleading yet?”

There’s always an undertone of anxiety that feels as if it’s settled in our hearts permanently. It doesn’t take much – Callie needing oxygen at night; seeing a tired look in her eyes – for it to rise to the surface. We constantly remind ourselves that this is her life, and no matter how tired she is, she insists on living it to the fullest.

We’re going back to Carolina Beach again soon. Callie and Peter made a list of things to do while there. Some of the highlights include eating dinner on the balcony, watching the sun set, sleeping in the bunk beds, getting up at dawn, eating bacon and eggs, and drawing in the sand. With the exception of getting up at dawn, we’re looking forward to it.

Our 7-year-old


Callie turned 7 years old today. Zaxby’s was her choice for dinner, followed by a strawberry cake with a snowman on top.

We’re glad to have reached this milestone. With each birthday comes an awareness that it could be her last. We feel that very acutely this year. We’ve seen some recent changes in Callie’s overall strength and fatigue levels, and her last illness was the most severe we’ve seen in years.

We’re so grateful for the time we’ve been given, and we’re proud of her determination, spunk and kindness.

Happy Birthday to our one and only girl-baby.

A progress report

Callie is thrilled to be home, and although she still has a long way to go, we began to feel optimistic today that she would be able to recover from this bout with pneumonia.

She is still too weak to breathe on her own for very long. She depends on her Bipap machine for breathing support. She also could not survive without the machine that helps her cough.

callie-gracieToday while resting in bed her cat, Gracie, jumped into her bed to curl up beside her. Callie was glad to have the company.

We expect it will take a few weeks for Callie to return to her full strength, but things seem to be going in the right direction.

Once again, we are grateful for the love, support and prayers that have been shared with Callie and our family during this illness.

Getting back home

As Callie’s overall health has improved over the past couple days, her anxiety has grown worse. Ever since we arrived at the hospital on Friday, she has asked constantly when she would be able to go back home. This morning she started begging for us to take her home. We explained to her that she’s at the hospital so she can get better, and she answered, “But I have to go home. It’s the only way I’ll get better.”

We realize that 6-year-old children can be impatient and demanding, especially when they’re in uncomfortable situations. But over the years we’ve also learned to listen to what Callie’s actions, as well as her words, are saying. It became clear that her anxiety over this hospitalization had gotten to the point that it was affecting her ability to recover.

So today, we brought Callie home. She’s certainly not well yet, but she’s in high spirits and is being her usual little self. We’ll still be dealing with challenges in getting her fully well, but we’re very hopeful.

We are very grateful for the care she received at the hospital but home is simply where she belongs.

Another night in PICU

Callie is still in the Pediatric Intensive Care Unit at Brenner Children’s Hospital. The IV antibiotics seem to be helping, although her anxiety has been making it difficult for her to rest. The good news is that she seems to be overall better today than she was yesterday.

Breathing is still difficult. Throughout the day she has needed her Bipap machine, along with supplemental oxygen. Her temperature climbed to around 103 degrees F during the night but has not been higher than 101 today.

She’ll be in intensive care for at least one more night. We will post again tomorrow to let everybody know how she’s doing. We appreciate the prayers and well wishes for Callie and our family.

In the hospital

Callie started feeling bad Tuesday and has continued to get worse each day despite antibiotics, extra therapy and rest.

We’d done everything we could to help her recover at home and she still was getting worse. So today we brought her to Brenner Children’s Hospital in Winston-Salem where a chest X-ray confirmed that she has pneumonia.

She will be staying in the hospital tonight and has been getting IV antibiotics. We expect to see some improvement within 24 hours. We also hope that she is able to rest, which, along with medicine, is essential to her recovery.

We’ll post another update by tomorrow night.