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.


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#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 is proof that IONIS-SMNrx is 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 impressed with Oliver’s improvements in strength since the last time she’d seen him–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 breastfed 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 traumatic 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!

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.