Khloë: 7 months old (31 weeks)

A new week:


31 weeks (July 8)

31 weeks (July 8)


Khloë saw her pediatrician Tuesday afternoon. Dr I will keep her file partially open in case we need pediatrician care but we won’t be required to do follow-ups. We also saw Dr B at CHEO, the surgeon, about the G-tube surgery. And finally on Wednesday we had our first Neuromuscular clinic appointment (separate post coming). We had a good experience with some of the specialists, but not so much with the respirologist; he doesn’t seem to agree with our proactive approach to Khloë’s respiratory care. SMA is degenerative and she will never be more healthy than she is right now… She will need medical equipment to manage her disease, regardless, so we feel we should get it for her now so that she can be used to the machines before she’s in distress. The OT is still looking for a bath chair for her.


Photo shoot

Beach

We were home in time to unpack, do laundry, and clean up the house for the Harpers to arrive on the weekend. Two year old Hannah just loved meeting Khloë!

Khloë weighed in at 16 lbs but hadn’t grown in length.

We also received an amazing care package from Families of SMA Canada:


FSMA Canada care package

They also sent a Radio Flyer wagon! We are so thankful for this package; Khloë loves the little toys and enjoys being pulled around the house in her new wagon.

Khloë: 7 months old (30 weeks)

Sorry for the late updates! We were away for a week and then had company over my birthday weekend. Trying to play catch-up before we head away for 2 and a half weeks!

My girl turned 7 months old in the middle of the “week”:


30 weeks (July 1)

30 weeks (July 1)


Canada Day was not eventful; we did nothing other than a mini photo shoot. Khloë was in bed early and wouldn’t really understand the concept of celebrating Canada at her age.


Canada Day 2014

Canada Day!

On Thursday we packed up the car and drove the 3 and a half hours to my mom’s cottage. We got settled in the guest cabin, set up Khloë’s bed and the camera for the monitor, and then enjoyed the fresh air and beautiful view over the lake. It was so nice to get some relaxation time in and it was just as wonderful to see my mom! Even though most mornings she was awake at 6:30 am, I was pleased with how well Khloë adjusted to being away from home for a longer period of time.

Friday we took Baby Girl to visit my tante and cousins. Khloë had her first ferry ride!


First ferry ride

First ferry ride


And Saturday was the Great Summer Spectacular BBQ for Ashe’s 3rd birthday and Khloë’s 7 month “half” birthday. The cottage was a happenin’ place that day! So many people came out to celebrate with us. I plan on writing a separate post about the birthday bash. We spent the following day winding down from the crazy party and enjoyed hanging out with my brothers and sisters. My brother Mark, who lives in Newfoundland, flew down for a few days with his girlfriend. Khloë has finally met all her uncles!


New sunglasses

To end a great week, on Monday we drove to Ottawa and checked in at Roger’s House (CHEO) for our 3 day stay.

Khloë: 6 months old (28 weeks)

My girl is six and a half months old:


28 weeks (June 17)

28 weeks (June 17)


At the start of the week we had an appointment with Dr K, Khloë’s family doctor, to discuss her recent diagnosis of Spinal Muscular Atrophy Type 1. She wanted to see how we were handling the news and had a nice discussion.

On Wednesday we had an enjoyable morning at Circle Time and Prenatal Nutrition. Khloë loved watching the other babies. She’s pretty content to lay on her wedge, slightly propped up, with a toy while we make lunch. The next day we hung out with Amanda and her boys at play group and then continued over to the marina playground for a picnic. Khloë fell asleep in the stroller on the walk over. A play date with a mom and little boy we met at the doctor’s office was supposed to be on Friday, but they cancelled due to a contagious skin condition.


Juicy Couture

Swinging

And Sunday after church we drove to Ottawa. Monday was a pretty full day even though there were only two appointments. We met with Debbie at CHEO, the Occupational Therapist (OT) assigned to Khloë. She told us we are doing a great job in regards to the proper head and leg supports in the stroller and car seat. I brought some mashed banana and sweet potato for Khloë to eat and she did well, no choking. She liked the banana best, I think. The texture of the sweet potato might have been a bit much for her. Debbie gave us the go ahead to continue with purees and watch for symptoms like an abundance of drooling, choking, or coughing while she’s eating.


6 months collage

The second appointment of the day was at Roger’s House, the pediatric palliative care building. We met with Nancy and a couple of the doctors, and then toured the facility. We will be staying there in July when we have two days of appointments for Khloë. It seems like a great place for kids with life-limiting illnesses and their families. Nancy sent us home with some paperwork to fill out.

No changes in regard to weight, diapers, or clothing sizes.

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: 5 months old (24 weeks)

Here she is:


24 weeks (May 20)

24 weeks (May 20)


When a baby is born, we don’t expect anything to be wrong. Not after we see that she is perfect. But since about 2 months old, her family doctor has said Khloë is “floppy”. I wasn’t really worried until she turned 4 months old and still couldn’t lift her head while on her tummy. Even now, her head flops forward after she holds it upright for a moment. She uses her arms and manages to eat her hands, but even a plastic toy ring is too heavy for her. She rubs her feet on any surface, but does’t move her legs.

On May 21 we saw Dr M, a neurologist at CHEO in Ottawa. He noticed right away the low muscle tone (hypotonia) that Khloë displays. He tested her reflexes and found none. He performed an EMG (tiny acupuncture-type needles inserted in her wrist and feet and a machine that causes little shocks); the EMG showed a disconnect between her muscles and motor neurons. At this point, Dr M suspects a genetic disease. He sent Khloë for blood work, and it took three pokes before the nurse finally got blood out of a vein. Poor baby was so upset! Now we wait for the results of the test; if it’s negative, then the next procedure is a muscle biopsy that will hopefully provide us with an answer. Khloë is to continue with exclusive breastfeeding and not receive any solid food until we know that her throat muscles are strong enough not to cause her to choke and aspirate food into her lungs.


baby girl

collage_16

I’m trying not to stress out and worry my self sick. Khloë is happy, smart, and otherwise healthy. She may need physio, she may learn to sit and roll over with a lot of help, and if she is lucky she may even learn to walk. I hope that with the support of our friends and family we will be able to get through this and provide our baby girl with all the love she deserves. She is definitely spoiled. 🙂

On a happier note, we have a picnic planned this week with Stacey and the girls and a visit with Amanda and the boys later in the week!