SMA: Oliver’s diagnosis

In the evening of November 11th, at a couple days before he turned 3 weeks old, we received a phone call from the geneticist that Oliver was diagnosed by blood test with Spinal Muscular Atrophy. The test showed he was missing the SMN1 gene and had two back-up copies called SMN2. Most likely he would be a Type 1, like his big sister.

We had to make a decision very quickly.

While I was pregnant, someone from an SMA support group contacted me with information about a clinical trial called NURTURE, a phase two study sponsored by Biogen for presymptomatic newborns diagnosed by blood test. This particular study wasn’t available in Canada yet but the closest centre was in Boston, Massachusetts. (Phase three trials of the same drug on babies with symptoms have been ongoing for awhile with very good results.)


Oliver's first visit to meet family doctor

Oliver’s first visit to meet family doctor


The next day, after we had digested the news and decided that we were willing to do anything for our tiny baby who was quickly losing the use of his legs, I sent an email to the study coordinator at the Boston site. She replied fairly quickly, stating their interest in Oliver, and we FaceTimed with her and Dr Swoboda almost right away. I was surprised–and relieved–that they made contact so quickly.

After an hour long discussion with Dr Swoboda (neurologist, SMA specialist) about my pregnancies, both babies, and aspects of the trial, Jordan and I decided it was in Oliver’s best interest to get the drug ISIS-SMNrx.

The doctor told us that it was imperative for her to assess Oliver as soon as possible. We already had an appointment for him to see Dr M, neurologist, at CHEO on Friday. She said that if we could be in Boston by Sunday, she could asses him Monday, November 16th. If Oliver qualified, he would receive his first intrathecal injection by Thursday. Could we do it? With Jordan on parental leave, YES!

As of now we have already completed three trips to Massachusetts General Hospital for the NURTURE study. After two injections, Oliver started to show more strength! By the time we arrived for his third on December 17th, Dr Swoboda was impressed with the progress he had made in the last two weeks.


Baby boy

In a short period of time Oliver’s disease had progressed rapidly. He couldn’t hold his head up or move his legs very much, and only used his forearms rather than his whole arm. With two doses of SMNrx under his belt he began holding his head up again, although for 5-10 seconds at a time, began moving his legs more, and lifts his whole arm up and keeps them held to his chest when rolled side to side. It’s such a huge difference and we are so happy he’s getting this drug!

Oliver’s next injection is at the end of January. Now that we are done travelling for a little while, I will try to write some updates about our precious baby boy who is 8 weeks old now!

The birth of Oliver Kaleb Azariah

While Skyping with my mom on October 22, I felt some mild cramps. I didn’t think much of it, but I did mention to her that it felt like period cramps. Later that night I felt them again but a little stronger and they continued until 4 am. I realized they were contractions because they were regular. I tried to get some sleep.

By morning (October 23) I felt that I had had some rest. Jordan went to work but was supposed to come home at lunch time to take me to my midwife appointment at 1:30 pm.

At 11:15 am I went to the bathroom and lost my mucous plug–so gross! Fifteen minutes later, contractions started up again, but stronger than the previous nights’. They remained strong and steady at 4 – 5 minutes apart and 30 – 45 seconds long. After an hour of this, I texted my mom to let her know. I wasn’t sure if I was really in labour… October 23 marked 38+4 weeks. I called Jordan and told him he should come home.

By 1 pm mom decided she would start driving up from Kingston because she really wanted to be a part of Baby Boy’s birth. At that point I called my midwife and told her I was having regular contractions and asked if she wanted me to go to my appointment. She told me to stay put and she would come to check my progress at 2 pm.

Suki arrived around 2 pm. She checked my cervix and did a membrane sweep. Only 1-2 cm dilated! She also confirmed I really was in labour and offered me the use of a TENS machine to manage the pain. I figured I would give it a try. She decided to go home to rest and told me to head to the hospital when the pain is getting too much to handle, and to call her when we leave.

By 3:30 pm the contractions were pretty intense and I had to really focus to breathe through them. They were coming 3 – 4 minutes apart and about 1 minute long. Another hour later, I decided we needed to get going! I knew we had a 40 minute drive ahead. My mom just happened to pull in our driveway at that time too, so she hopped in our car and came with us!

We arrived at the Pembroke hospital and Jordan grabbed me a wheelchair. We had to make a stop at registration but quickly headed up to Labour & Delivery. Suki hadn’t arrived yet, but the on-call obstetrician Dr M showed me to a delivery room. A nurse came in and hooked up the belly monitors.

My midwife showed up at 5:30 pm and checked my cervix: 3 cm dilated. At this point we discussed what I wanted for pain relief; I was really struggling with the contractions and was already feeling tired. We agreed an epidural would be a good idea and she went to talk to Dr M, as an epidural means a transfer of care to an OB.

Around that time a nurse came to start an IV and take my blood. I was GBS+ which meant I needed a round of antibiotics (clindamycin). A fluid bolus was also administered for the epidural.

Two hours later, at 8 pm, feeling like I was gonna die from the pain, the anesthesiologist arrived! Suki joked to Jordan, “Here comes the man your wife is going to want to marry!” And boy was she right. 😂 He explained the risks of an epidural to me, I replied “Let’s do this!”, and he had that epidural in super fast!

My body slowly began to go numb; he said it would take about 20 minutes. Both my legs were completely frozen, but I could wiggle my toes. I couldn’t feel the contractions except in a small fist-sized area on my lower left side.

Dr M checked me at 8:30 pm and voila, 6-7 cm! Finally my body was doing its job and dilating my cervix. The catheter went in at this time, as well as a scalp monitor for the baby. Baby Boy was so active during labour that the belly monitor was having trouble picking up his heart rate so I agreed to the monitor being attached to his head.

Fully dilated by 10:10 pm! This was it! Soon we would meet our little boy. Even though I had been transferred to the OB, Suki still caught the baby. At 10:42 pm, Oliver Kaleb Azariah was born and placed on my chest. He was completely covered in vernix! We waited for the cord to stop pulsating, then Daddy cut the umbilical cord. And guess how much my little guy weighed–a whopping 8 lbs! He was 21 inches long and had a healthy cry. Head circumference was 35.5 cm.


Birth collage

I was so astonished to have birthed an eight pound baby!

After Oliver was cleaned up and weighed, I let him breastfeed. He knew just what to do, my little milk guzzler.

We were discharged the next morning and brought our sweet little boy home. 😀

Third trimester: Weeks 36 – 37

Week 36 (October 5)
Braxton Hicks contractions calmed down this week compared to last week. But heart burn kicked up a notch; I had to go buy some fruity Tums.

Amanda emailed me our maternity photos. They turned out fabulous! 😀

I had an appointment with Suki on Friday. She told me that my GBS swab came back positive. Crappy. I had hoped for one less thing to worry about. My lower belly had been feeling much heavier, and Suki confirmed that baby’s head had engaged. No wonder! Blood pressure was 110/65, fetal heart rate strong and steady, and fundal measured at 37 cm.

Also, she gave me the results from my 33 week ultrasound. Apparently the baby measured in the 86th percentile and weight was estimated at 5 lb 7 oz.

That afternoon I called our genetic counsellor and informed her that my due date was getting closer. She said to call her after the baby is born and she will rush the results of the blood test.

Total wight gain was 39 lbs. I’ve officially surpassed the weight I gained with Khloë.


Weeks 36-37

Week 37 (October 12)
Still incredibly uncomfortable and suffering from heartburn at night. Ugh. Tums were my best friend.

Jordan came with me to my midwife appointment this week. His first one all pregnancy! I wanted him to drive me because driving causes me pain in my pelvis. I hate you, SPD. Anyway, blood pressure was 112/66 and fundal at 38 cm. Head still engaged!

When I went to bed on Saturday I had one contraction. Literally just one. It started in my back and the cramp spread to my stomach for 20 seconds.