Global Genes: World Rare Disease Day 2016

On February 29th, we celebrated World Rare Disease Day by wearing our #ilovesomeonerareandbeautiful shirts from the Gwendolyn Strong Foundation.


#ilovesomeonerareandbeautiful #rarediseaseday #cureSMA
#ilovesomeonerareandbeautiful #rarediseaseday #cureSMA

On the rarest day of the year we showed our love and support for those living with rare diseases, especially Spinal Muscular Atrophy.


Rare Disease family

Our Rare Family

For my babies, Khloë & Oliver.

Oliver: 1 month old

November 23 – December 22
My baby boy turned one month old on November 23rd. It really is incredible how fast he’s growing! Oliver’s first neuromuscular clinic visit was scheduled for December 9th. He also had IONIS-SMNrx (previously labelled ISIS-SMNrx) injections scheduled for December 3rd and December 17th. What a busy month for my baby!


1 month old

Nov 23 – We received the Hope car bed and a box full of goodies from CureSMA! Oliver’s grandparent arrived from New Brunswick and Charlene and I set up the Christmas tree.

Nov 25 – Oliver had a hearing test done. He passed with flying colours.

Nov 26 – Home visit from Suki. Oliver weighed 10 lb 4 oz.

Nov 27 – Oliver had a hard time napping during the day. He was so over-tired that he fussed til 2:15 am. I think it was from all the noise in the house with his grandparents visiting. They stayed with us from November 23 – 30th and loved interacting with their grandbaby.

Nov 28 – We went to the Christkindlmarkt at the “Germania Club” in Pembroke. I bought various kinds of cookies and a bottle of dark maple syrup. Afterward, Jordan’s parents treated us to Thai food for lunch!


Snuggles

Dec 2 – We arrived in Boston, Massachusetts after a twelve hour day of driving and frequent stops. The day before we had driven to Kingston and stayed overnight at my mom’s to save us some driving time. There was a mix-up with our room at the hotel; it was 10 pm by the time we got a room. Poor Oliver was miserable and just wanted to be asleep in his bed.

Dec 3 – A double whammy of a day: Khloë’s second birthday and Oliver’s injection #2 day! His big sister was watching over him that day. At the hospital, Oliver was weighed at 10 lb 9 oz and 22.6 inches long. His head and chest circumference were both 38 cm. At 12:30 pm we moved to the PICU where Oliver was given a dose of IONIS-SMNrx by intrathecal injection (into his spine). I stayed with him this time. He cried during the injection but tried to calm himself by sucking on his bottle. The rest of the afternoon he slept and ate normally. Around 7 pm, after Dr Swoboda finished her neuro exam and left for the night, Oliver began to fuss and needed to be either held, rocked, or nursed. At 9 pm, when Jordan went back to the hotel to sleep, Oliver became inconsolable. I asked for the nurse to give him Tylenol but the medication wasn’t written in the orders for the night and the nurse couldn’t reach the doctor. Finally at 3 am Dr Swoboda called and gave the go-ahead for Tylenol. She returned to the hospital at 4:30 am and held Oliver for two hours while I slept. She got him to take a 2 oz bottle of Similac and he calmed down after that.

Dec 4 – Dr Swoboda did Oliver’s last neuro exam in the morning and we headed out! We stopped overnight in Lyons Falls, New York; by Saturday night we were home.


Boston

Beautiful boy

Dec 9 – Neuromuscular clinic at CHEO. The morning prior, we drove up and registered Oliver at the palliative care building (Rogers House) and stayed overnight. We met Oliver’s team. I asked for a pulse oximeter and CoughAssist for Oliver’s use. Carlie (RT) loaned us her CoughAssist machine and said that she would have the pulse ox and new CA machine couriered to our home. We filled out some paperwork with our social worker: applied to ACSD, Muscular Dystrophy, Easter Seals, Disability Tax Credit Supplement, to name a few.

Dec 10 – Oliver received his first Synagis shot (RSV antibodies).

Dec 11 – Brought Oliver to see Dr K for his skin issues. His face was covered in crusts, through his eyebrows and getting close to his eyes. My boy was covered in seborrheic dermatitis! Dr K told me to use 1% hydrocortisone, and after two days of applying that, along with Glaxol cream, the crusts flaked off.

Dec 12 – Suki did her last home visit and weighed Oliver at 11 lb 3 oz. His length was 23 inches. Around this time I moved Oliver into size 2 Pampers and 3 month or 3-6 month clothing.

My mom visited with us until December 14th. My little Love Bug was full of smiles and laughter; a sound of pure joy. He was moving his legs more, turning his head from side to side, pulling his head back when held upright, and lifting his arms again. I loved witnessing these small miracles! His newfound strength was proof that IONIS-SMNrx was working!

Dec 16 – Arrived in Boston late at night. During the drive Oliver vomited while in his car bed and started choking on it. I had to unbuckle and pull him out quickly and turn him on his side. After a little crying, he was fine. Jordan pulled into a Dunkin’ Donuts and we cleaned him up in there.


Happy Oliver

Oliver's Christmas tree

Dec 17 – At the hospital, Dr Swoboda was imressed with Oliver’s improvements in strength since the last time she’d seen himm–two weeks ago. He had blood drawn and a urine sample taken. He weighed 11 lb 3 oz. Injection #3 of IONIS-SMNrx was attempted in the PICU with no sedation; however Oliver was more wiggly than usual and the doctor wasn’t able to successfully give the injection. He got very upset this time and his o2 kept dropping. Luckily she was able to book an OR with an anesthesiologist for early evening. We met the anesthesiologist at 5:30 pm, signed the consent form, and handed Oliver over to the team at 6 pm. Dr Swoboda was able to do the injection successfully and I was able to nurse him in Recovery an hour later. We made sure Oliver was given Tylenol to prevent any pain or discomfort and he ended up having a very good night! Sedation seems to be the trick in giving him a much better recovery after the trauma IV attempts and lumbar puncture. During our hospital stay Jordan was sick with a bad cold so he remained at the hotel for most of the time. When he did come over to see us, he made sure to wear a mask.

We had planned to head to my mom’s on Christmas Eve but with Jordan still being ill we had to stay home. That turned out to be for the best because then we were able to spent time at home after our return from Boston.

Be my Valentine

Happy Valentine’s Day from Oliver!


Valentine's 2016

I have been seriously slacking in the update department! Oliver is 3.5 months old and doing amazing! As you can see from the above photo, he has learned to hold his head up while on his tummy. In the SMA world, this is a miracle! IONIS-SMNrx (Nusinersen) is doing its job! We are so amazed at his progress.

Happy Valentine’s Day from our favourite little boy!

You're just as sane as I am. — Luna Lovegood (H.P.)