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: 4 months old (20 weeks)

Baby Girl and her weekly Hello Kitty shot:


20 weeks (April 22)

20 weeks (April 22)


Using hydrocortisone cream on Khloë’s eczema wasn’t having any effect so I stopped using it and purchased some Aveeno Baby Eczema Care Moisturizing Cream and Aveeno Baby Eczema Body Wash. After a weeks’ use, the skin on her arms and legs have improved! No more red, flaky patches! Her back is still covered in red patches and her right temple and forehead break out in eczema patches that don’t seem to want to clear up.

I found her toy rings in the back of the armchair in the living room. We thought we’d lost them on our way home from Kingston. She was happy to have them back; Khloë constantly chews on them and loves when I dangle them over her. Definitely one of her favourite toys at the moment.

We went to Prenatal Nutrition this week and made lentil soup. The public health nurse was there to speak about breastfeeding. All the girls except one are currently nursing. As long as we are breastfeeding our baby, we can continue to attend until baby is one year old!

“Make the Connection” was fun but half-way through Khloë got fussy and tired due to missing her afternoon nap.


Cheeseburger

Wearing her new dress

Wearing her new dress

Pretty purple headband

We switched Khloë to size 3 diapers. Walmart had a great sale so hubby and I stocked up on a couple more boxes of that size. Right now she’s fitting into 6-12 month pants, 6 month onesies, 6-12 month dresses, and 6-12 month shirts. A few pairs of 3-6 month pants and all the sweaters still fit.

Khloë: 4 months old (19 weeks)

My growing girl’s latest photo:


19 weeks (April 15)

19 weeks (April 15)


Khloë had her four month needles on April 15th. Just like last time, she got upset after the second jab and was difficult to calm down, but she didn’t choke while nursing this time. A friend suggested breastfeeding her during the needles but that doesn’t seem to help her discomfort. Dr K also put in a consult for Khloë to see a pediatrician in Ottawa because she’s still concerned about her neck muscles not being strong enough for her age.

Due to the time of her doctor’s appointment, we missed another session of “Make the Connection”. But we did get out to Prenatal Nutrition this week. All the girls have had their babies!


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This weekend was Khloë’s first Easter! We didn’t do much as she really has no idea what it means right now. We spent the Saturday at Ryan & Stacey’s. Jordan helped his friend build a play structure in their backyard while Khloë and I hung out with Stacey and the girls. On Easter Sunday we got Baby Girl dressed up and took some photos, then went to church. Sunday evening we had potluck dinner with a group of friends from church. It was an enjoyable weekend.

This week Khloë also had her first real giggle! I kept blowing raspberries on her stomach and she thought it was hilarious. 😀


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Happy Easter!

Eek my baby will be five months old in couple weeks!

Khloë visits a farm (and her first illness)

…The Agriculture & Food Museum in Ottawa to be exact!

We spent the weekend at Serena & Cheepow’s. Our two year old niece, Zoë, liked having baby Khloë to “play” with. Mostly she would sit beside her and watch me change the baby’s diaper, dress the baby, or nurse the baby.

On Saturday Jordan and I decided to use his sister’s free pass to the Agriculture Museum to take Khloë to see the animals. We bundled Khloë up against the chill and put her in the stroller for the first time. She seemed comfortable and didn’t fuss.


First stroller ride

First stroller ride


The museum is not all indoors. Basically you walk from building to building to see the animals. There were cows, pigs, goats, and sheep. We also listened to a talk about honey bees and saw the cows being milked. I think it would have been more enjoyable in better weather; it was muddy and a little cold when outside.


Look, it's a cow!

Look, it’s a cow!

Look, it's a tractor!

Look, it’s a tractor!

Watching the cows get milked

Watching the cows get milked


Before leaving I tried to nurse Khloë in a quiet corner in the Learning Centre but she got really fussy and wouldn’t drink. I figured she was getting tired and needed her nap. We took her back to the house and I put her down for a nap. She seemed a little stuffed up but I didn’t think much of it.

By 1:30 am on Sunday morning I had to suction the snot out of her nose because she was having a hard time breathing. I kept waking up to the sound of her choking on mucous. Later in the morning, after nursing her, she was really fussy and nothing would make her happy–definitely not the norm for our girl. We all headed to church and I kept thinking to myself that I should have stayed at the house with her. Mother’s intuition! She cried almost the whole time and I spent the whole service in the nursing mother’s room trying to console her. She didn’t want to nurse and finally slept about 30 minutes. Her nose was still pretty clogged.

Back at Serena’s she finally had a good breastfeeding session and fell asleep for two hours. When she woke she had developed a nasty cough. I gave her some infant’s Tylenol because I was afraid she was getting a fever. The medicine seemed to improve her spirits enough to do a little photo shoot with her cousin.


Photo shoot at Aunt Serena's

Photo shoot at Aunt Serena’s

Khloë & Zoë

Khloë & Zoë


We got all packed up and made the 2.5 hour drive home; Khloë slept almost the whole journey. I gave her more Tylenol to help her sleep, suctioned her nose again and fed her. In between doses she was able to sleep but her breathing and coughing sounded awful.

As soon as her doctor’s office opened Monday morning I called and made an appointment. The nurse practitioner confirmed Khloë most likely had a virus and that we were to continue to give her Tylenol, nurse her as much as she wants, and let her sleep. She checked Khloë’s ears and chest, which sounded clear, and said that the mucous was all in her sinus area. Hopefully this illness doesn’t last more than a couple days; my poor girl is miserable and I miss her beautiful smiles. And I think she might be passing her cold on to Mama…

Khloë: 3 months old (15 weeks)

My little 3 and a half month old:


15 weeks (March 18)

15 weeks (March 18)


When I look back at her six week photo compared to her 15 week photo, she looks all grown up!

On Wednesday Khloë and I attended our first session, Orientation, of “Make the Connection”. I think she enjoyed herself! She was so happy and liked the songs we sang. There were four other moms there with their babies. The youngest baby was 2 months and the oldest was 7 months, so there is a good variety. All the moms breastfeed, too, which is really cool. I actually breastfed Khloë for the first time in “public” without using the nursing cover. I hate that thing, it gets so hot underneath it and it’s awkward to position Khloë under the cover, but there’s certain situations where I’m uncomfortable not using it, if that makes sense.

Some pictures from the week:


Goober

Goober

Khloë and Baby Mulan

Khloë and Baby Mulan

Tobaggan ride

Tobaggan ride

I can't wear pink everyday!

I can’t wear pink everyday!

Daddy gave her an Oreo to play with

Daddy gave her an Oreo to play with


Just a quick note: I have been posting these weekly updates at the end of the week (even though she “grows up” on a Tuesday) so that I can talk about what we did during the week.