Oliver: 6 months old

Here is what’s been happening in the past few months!

2 MONTHS OLD
December 23 – January 22
– Daddy was very sick so we stayed home for Oliver’s first Christmas instead of going to family celebrations in Kingston
– We went to our church’s Candlelight Service on Christmas Eve
– On Christmas Day we Skyped with everyone at Oma’s
– On December 31st Oliver received his second RSV shot; that evening Uncle Luke & Aunt Katelyn arrived for a 4-day visit
– Oliver weighed 11 lb 14 oz on January 6th, length 23 inches, and head circumference 40 cm; this showed no weight gain since end of December
– Drove to Kingston on January 7th for the weekend; hung out with Oma, went shopping with Aunt Keesje, and Oliver met my Uncle Dale and Aunt Margaret
– Oliver weighed 12 lb 3 oz on January 13th
– January 16th marked one year that my baby girl Khloë has been in Heaven
– On January 21st Oliver received his fourth injection of Nusinersen (IONIS-SMNrx) in Boston with Dr Swoboda; he had the CHOP-INTEND physio test in the morning and injection was scheduled for late afternoon in the OR with sedation; he weighed 12 lb 5 oz, length 23.5 inches, head circumference 40 cm, chest circumference 40.5 cm
– Packed away Oliver’s 3 month onesies and pulled out size 6 month; he was still in size 2 diapers


2 months old

2 months old

3 MONTHS OLD
January 23 – February 22
– Kicking his legs, waving his arms and holding his head up are major milestones
– Oliver was becoming interested in toys dangling in front of him; he smiled and cooed a lot
– Jordan and I celebrated 10 years together on February 2nd
– Oliver weighed 12 lb 9 oz on January 28th; this showed very little weight gain in 18 days and a half inch gain in length; Dr Swoboda recommended a swallow study to rule out swallowing issues
– He started showing signs of silent reflux (twisting and arching while breastfeeding, crying, needing to be upright often); he was prescribed ranitidine
– On February 4th Mary from Infant Development met Oliver; later he received his third RSV shot
– Nanny & Papa visited from February 5 – 10th; Oliver enjoyed having “conversations” with them
– Oliver lifted his head up, for the first time, while propped on a nursing pillow
– Struggled with getting him to take a bottle; he gagged on everything I tried
– By the middle of the month I moved Oliver into size 6 month pants and size 9 month onesies; also switched to size 3 diapers
– On February 15th I woke up in extreme pain from mastitis; spent Family Day at the emergency room to get antibiotics
– On February 16th Oliver had a swallow study at CHEO; he was put in a high chair and fed liquid barium in a squeeze bottle; the x-ray showed no signs of aspirating while swallowing
– Oliver had neuromuscular clinic on February 17th; Dr M showed concern for Oliver’s lack of weight gain and suggested we have a consult with general surgery about getting a g-tube
– We met with Dr Bass (surgeon) on February 18th and talked about g-tube surgery for June


3 months

3 months

4 MONTHS OLD
February 23 – March 22
– Oliver weighed 13 lb 1.5 oz on February 23rd, length 25 inches, head circumference 41 cm
– Started feeding him Neocate Infant formula by syringe as a supplement
– On February 24th he had his fourth month vaccinations
– Tried carrying Oliver around in the Boba 4G to get him used to it
– My mom, sister, and nephew came on February 25th to spend the weekend; we did a lot of cooking and baking
– Oma discovered Oliver was teething by pointing out blisters on his gums
– On February 29th we celebrated Rare Disease Day by wearing out special shirts from Gwendolyn Strong Foundation
– On March 2nd he received another RSV shot
– Switched to CeraVe brand for Oliver’s cleanser and cream; his eczema is so severe that everything causes him to break out and the eczema oozes; after a trip to the doctor about oozing and infected-looking skin, he was prescribed 1% hydrocortisone; Dr K sent off a referral to dermatology at CHEO
– Oliver finally learned how to use a pacifier
– Ordered a seahorse pattern Lillebaby carrier and Oliver was more comfortable in it


4 months old

4 months old

5 MONTHS OLD
March 23 – April 22
– Oliver weighed 13 lb 3 oz on March 23rd; his weight has stopped increasing
– He met all four month fine/gross motor skills
– Uncle Cheepow & Aunt Serena and the girls visited for Easter weekend
– On March 30th Oliver received his last RSV shot of the season
– We bought a used Outlander because we needed a larger vehicle; Jordan plans to sell my car
– Mary worked with Oliver on April 7th; she loaned him a Tumbleform chair
– I bought a used Baby Einstein activity jumper for Oliver
– On April 9th Oliver tried brown rice cereal and pureed sweet potato for the first time
– Oliver started rolling from his right side onto his belly but can’t get his arms out from under him yet
– On April 13th we had neuromuscular clinic at CHEO; Oliver’s occupational therapist supervised him eating pureed food; we also met with his other specialists; he showed off his new skills; had a long conversation with Dawn about Oliver’s lack of weight gain and agreed we needed to move his surgery up
– Oliver weighed 13 lb 4 oz on April 13th, length 25.4 inches
– Oliver was admitted to CHEO on April 14th for failure to thrive; an NG (nasogastric) feeding tube was inserted and he was placed on the waiting list for emergency gastrostomy surgery; the tube made him sound phlegmy and put him at a higher risk for aspirating; I continued to breastfeed before every tube feed
– Oliver weighed 13 lb 6 oz on April 16th
– On April 19th we met the pediatric dietician, Julie, who understood Oliver’s needs in regard to SMA; we moved his tube feeds to every 4 hours
– On the morning of April 20th Oliver had gastrostomy surgery performed by Dr Bass; a PEG tube was inserted; PPN (peripheral parenteral nutrition) was ordered to keep him from fasting after surgery
– Oliver’s tube feeding was scheduled at 75 ml breastmilk every 4 hours at 75 ml/hr and breastfeeding on demand


5 months old

5 months old

6 MONTHS OLD
April 23 – May 22
– On April 25th Oliver was discharged from the hospital and we moved over to Rogers House for the night; CCAC ordered us some enteral feeding supplies and then we headed home the next day
– Applied for Oliver’s first passport
– Oma stayed with us April 29 to May 2nd; she helped cook while we got used to a new routine with Oliver
– Oliver weighed 13 lb 13 oz on May 4th at the doctor’s office, length 26 inches, head circumference 42 cm; refilled ranitidine prescription and he had his 6 month vaccination
– Jordan’s parents arrived May 7 and stayed til May 10th
– Approved for ACSD (Assistance for Children with Severe Disability), but for the bare minimum
– Travel itinerary for Boston was booked; our first time flying for the NURTURE trial
– Oliver enjoyed being able to sit supported on the floor with toys in front of him
– His first tooth finally came through
– We registered for SMA Family Camp Ontario (July)
– I purchased a new stroller, Bugaboo Donkey Mono, for Oliver; insurance agreed to pay for 80%
– On May 16th we flew to Boston; Oliver did great on the plane, although the whole ordeal was stressful for myself; car service delivered us to our hotel
– In the morning of May 17th Oliver had the motor function test (CHOP-INTEND) and in the afternoon the CMAP; Dr Swoboda was very pleased with his progress
– On May 18th Oliver had his fifth injection of Nusinersen with sedation; he weighed 14 lb 2 oz, length 25.9 inches; he passed the neurological exams and that evening we left the hospital to go out for dinner; the next morning we returned to the hospital for one last neuro exam
– On May 19th we flew home
– I can’t keep Oliver from constantly rolling from his back to tummy, he’s seriously working on this skill


6 months old

6 months old

6 months old

I cannot believe my little boy is 6 months old! We are so happy with the progress he has made; he truly is a miracle!

Oliver: Birth to 1 month

October 23 – November 22, 2015
The first month with my baby boy was a whirlwind, to say the least: his early birth, getting used to having a newborn at home, his diagnosis of SMA, and travelling to Boston to get him in the NURTURE clinical trial.

This post is for me to play catch-up!

Oct 24 – The day after Oliver was born, we left the hospital at 9:30 am. The L&D floor was very busy and short on rooms so they wanted us out of there as soon as possible.

Oct 25 – Home visit from Suki. Oliver was slightly jaundiced.

Oct 26 – Home visit from Suki. Oliver weighed 7 lb 8 oz. We gave him BioGaia probiotic drops, as recommended, to help with gas (he’d been struggling at night).

Oct 27 – Noticed that since starting the BioGaia, Oliver’s poops have been even more frequent and burning his bum!


October 27

November 1

Oct 28 – We went to Prenatal Nutrition and brought my mom. Decided to stop the probiotic drops and picked up Sudocrem to help heal his bum.

Oct 29 – Oliver was breastfeeding every 2 to 2.5 hours round the clock. Lots of wet diapers! Suki had the flu so home visit was rescheduled.

Oct 30 – Oliver turned 7 days old. We drove to CHEO and met with Claire (genetic counsellor) and geneticist. Oliver’s muscle tone seemed normal for a newborn. He had blood drawn for SMA testing and weighed 7 lb 12 oz.

Oct 31 – We didn’t do anything special for Halloween but did take some pictures of Oliver in a themed sleeper.


October 28

My mom stayed with us until November 2. I loved having her with us. She made delicious meals for us and changed lots of dirty diapers! She also finished crocheting a beautiful baby blanket and two hats for Oliver.

By the end of his first week, I switched to size 1 diapers rather than buying another box of NB. Some NB size onesies were starting to be too short, as well. Oliver slept the days away, only having a few alert moments. When awake, he would follow my voice with his eyes. At night, he woke every 2-3 hours to breastfeed and then he’d fall back to sleep. I was finally getting some shut-eye!


November 9

Nov 3 – Jordan from “Cole Creations” came all the way from Kingston to do two newborn photoshoots at my house–one for Oliver and one for my friend’s baby girl, Josebelle, who was born five days after my boy. Oliver was 11 days old.

Nov 4 – I had Oliver weighed at Prenatal Nutrition: 8 lb 5 oz.

Nov 10 – Oliver met his family physician, Dr K. He weighed 8 lb 14 oz and measured 21 inches long (same as at birth). Around this time I switched him into 0-3 month clothing and packed away all the NB outfits.

Nov 11 – Geneticist called in the evening to tell us that Oliver’s blood test results showed he had Spinal Muscular Atrophy (SMA).

Nov 12 – I emailed the coordinator for the NURTURE trial (in Boston, Massachusetts) and explained Oliver’s diagnosis and our interest in getting him into the presymptomatic newborn clinical trial for ISIS-SMNrx. Kellie replied right away and Jordan and I immediately FaceTimed with her and Dr Swoboda. We agreed to Dr Swoboda’s suggestion that we get Oliver to her as soon as Monday so that she could assess him and, if he’s accepted, be given his first injection by the Thursday.

Nov 13 – We met with Dr M (neurologist) at CHEO. He examined Oliver and told us that he was displaying some signs already. He was 3 weeks old. I had noticed lessened movement in his arms and legs (only because I was really looking for it) and his inability to pull his head up. Dr M wrote us a prescription for a car bed.


November 2

November 6

Nov 15 – Arrived in Boston at 7:30 pm and settled in at the hotel. It took us two days to drive there.

Nov 16 – We met Kellie and Dr Swoboda and discussed what to expect from the clinical trial. Oliver went through a full day of screening, including an ECG, blood draw, motor function test, and CMAP. We had to wait for the blood work to come back before Oliver could officially be accepted into the study. The following day they had to repeat the blood draw due to the vials clotting.

Nov 18 – Oliver was accepted into the NURTURE trial!

Nov 19 – Procedure day! Oliver was given the drug ISIS-SMNrx intrathecally (administered through lumbar puncture). His back was numbed but of course he still got very upset. No sedation was needed. Jordan stayed with him the whole time while I pumped, since he had to miss a feeding session.


Two weeks old

Three weeks old

Although procedure days will be tough on our little guy, we know it’s the right thing to do. SMA is a terminal disease that takes almost everything away from a child. But this drug can delay or stop progression. Right now we hope for the little things, like being able to hold his head up and kick his legs. We have to make two more trips to Boston in the month of December for two more injections, then we will have a month reprieve.

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!

What is Spinal Muscular Atrophy?

We knew it was coming; we knew something was wrong. But we did not think it would be quite this devastating.


SMA

On June 10th, at 6 months old, our beautiful, happy, silly baby girl was diagnosed with a genetic neuromuscular disease called Spinal Muscular Atrophy. We had never heard of this disease before. After revealing the results of the blood test, the neurologist and social worker gave us an overwhelming amount of information about SMA. Dr M also told us that based on the age of onset and milestones reached, Khloë is a Type 1.

SMA is a motor neuron disease that affects the voluntary muscles that are used for sitting, crawling, walking, neck control, breathing, and swallowing. 1 in 6000 babies are born with this disease and 1 in 40 people unknowingly are carriers of the gene. SMA does not affect intellect or sensation. There are four types of the disease, with Type 1 being the most severe. Children with SMA are more susceptible to respiratory illnesses that can cause severe breathing problems. At some point, they require special equipment for breathing and a feeding tube to eat. SMA is the #1 genetic killer of children under 2 years old.

We sat there thinking, “Our daughter is now considered severely disabled. She may not live to see her second birthday.” As a parent, how is one to deal with those thoughts?

Khloë will never sit unassisted, crawl, or even walk. But she can smile, laugh at the silly antics of her parents, and with a bit of help she can play with her toys. She gives us an unimaginable amount of joy every day and we hope that we can give her the same amount back.

For a child to have SMA, both parents need to be carriers of the gene. Each pregnancy there is a 25% chance of the baby having SMA; a 50% chance of parenting a child that is a carrier of SMA; and a 25% chance of parenting a child that is not a carrier.

Why is this disease not a part of standard prenatal testing when it destroys so many children?

The following information is paraphrased from Families of SMA Canada about Type 1:

SMA Type 1 is also known as Werdnig-Hoffman disease and is usually diagnosed when the child is between 3-6 months old. Typically the child is never able to lift her head or accomplish the normal gross and fine motor skills expected in infancy. These children generally have poor head control and may not kick their legs as vigorously as they should. The child with Type 1 generally uses the diaphragm to breath, giving them the appearance they are breathing with their stomach. Due to this type of breathing, the lungs never fully develop and the child has a weak cough. Children with SMA who have difficulty swallowing are at risk for aspirating when eating.

In Khloë’s case, she currently doesn’t have any issues with swallowing and so she is able to exclusively breastfeed. Her doctor has told us not to give her any solid food in case she aspirates. On June 23rd, under supervision at CHEO, Khloë will have the opportunity to try solid food for the first time! If all goes well, we will be able to allow her eat purees in addition to breastmilk. When the time comes that she can no longer swallow, she will be fed a special formula by G-tube. Surgery for this feeding tube will take place this summer while she is still healthy.

We are thankful for every moment we have with our sweet baby!

For more information about Spinal Muscular Atrophy, check out these websites:
Families of SMA Canada
Muscular Dystrophy Canada (search “spinal muscular atrophy”)
Fight SMA

Khloë: 6 months old (27 weeks)

This picture was taken at night so the lighting is a little weird:


27 weeks (June 10)

27 weeks (June 10)


This was a tough week. First Khloë had her six month needle. She did really well because I was able to distract her. She weighed in at 15 lb 7 oz and was 27 inches long! That evening we traveled to Ottawa and stayed over at my sister-in-law’s house.

On June 10th we met with the neurologist at CHEO and learned that our beautiful girl tested positive for Spinal Muscular Atrophy (Type 1). SMA is a very scary genetic disease that I would like to devote an entire post to at a later date, but I will describe it quickly here:

SMA is a motor neuron disease that affects the voluntary muscles that are used for sitting, crawling, walking, neck control, and swallowing. 1 in 6000 babies are born with this disease and 1 in 40 people are carriers of the gene. SMA does not affect intellect or sensation. There are four types of the disease, with Type 1 being the most severe. Children with SMA are more susceptible to respiratory illnesses that can cause severe breathing problems. At some point, they require special equipment for breathing and a feeding tube to eat.

Currently Khloë is still able to breastfeed. She doesn’t have any problems nursing, breathing, or swallowing. She looks like any other six month old, except for her low muscle tone and poor neck control. We aren’t sure when more serious problems will arise, but we will do everything we can to keep her healthy and happy. In July we will travel back to CHEO to meet her neuromuscular team.


Cherry dress

Fun at Tante Maaike's

We spent this past weekend in Kingston informing friends and family about Khloë’s diagnosis. While it was definitely an upsetting reason to visit, we still managed to enjoy ourselves. Khloë loved watching her cousin Ashe play and she was all smiles!


Ashe & Khloë

Ashe & Khloë