Khloë: 8 months old (37 weeks)

Here we go:


37 weeks (August 19)

37 weeks (August 19)


At the beginning of the week CCAC sent an Occupational Therapist and Physiotherapist to our home to meet with Khloë. The ladies were very friendly and Khloë gave them lots of smiles. I showed the OT the feeding chair and the infant rocker chair we currently use and explained that, although they work fine right now, Baby Girl is growing quickly and will soon be too tall for these chairs. Since she can’t support her head when upright, Khloë needs to be partially reclined when sitting in either of her chairs. These chairs are meant for babies who develop into strong toddlers who can hold their heads up and don’t need extra support. The OT said she would look into finding us a tumble form chair.


Beauty

On Wednesday we went to Prenatal Nutrition. In the late afternoon, Mary from Infant Development came and worked with Khloë for an hour. We agreed that she would benefit from infant massage and we will start that in September.

The most important part of the week was Khloë’s appointment at CHEO on Friday. We met with an anesthesiologist to discuss Baby Girl’s upcoming G-tube (gastrostomy) surgery. It looks like surgery will take place next Wednesday, August 27th, but we must wait for confirmation. In our original discussion with the surgeon, we were told to expect three days in the hospital for recovery and training on how to use the feeding pump. I voiced my concerns to the anesthesiologist about fasting, as it’s not good for an SMA child to go more than 6 hours without adequate nutrition–Khloë will need to fast starting four hours prior to surgery. Other SMA families advised us to have PPN (peripheral parenteral nutrition) given to Khloë, but even though I asked for it and the doctor said she would make a note about it on Khloë’s chart, I doubt she will get it. We were told that it’s not protocol at CHEO to do PPN.

The following quote, taken from the “Consensus Statement for Standard of Care in Spinal Muscular Atrophy”, is on the dangers of fasting:

Spinal Muscular Atrophy patients are particularly vulnerable to catabolic and fasting states [and] are more likely to develop hypoglycemia in the setting of fasting… Thus, it is necessary to avoid prolonged fasting, particularly in the setting of acute illness, in all Spinal Muscular Atrophy patients. Nutritional intake should be optimized to meet full caloric needs within 4 to 6 hours after an admission for acute illness, via enteral feeding, parenteral feeding, or a combined approach as necessary. Prompt postoperative caloric supplementation is recommended to avoid muscle catabolism, particularly in a child with reduced fat store.

As long as the surgery goes well, she’ll be given Pedialyte; if she tolerates that and has been extubated with no breathing issues, I’ll be able to breastfeed. If Khloë is too tired to nurse, I can give her pumped milk with a syringe. I have no idea how long she will end up going without eating if she isn’t given PPN and can’t breastfeed right away.


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Catch that tongue

On a happier note, my sweetpea has added the sounds “guh guh” and “ba ba ba” to her repertoire of baby babble. She’s being saying “mum mum mum” for awhile now but usually while upset. She even mouths it without the sound coming out, which is really cute. She also tries to copy me when I make a certain noise with my tongue. It’s hard to describe but she’s fascinated by watching me do it!

Khloë: 8 months old (36 weeks)

I’m totally loving little baby skirts:


36 weeks (August 12)

36 weeks (August 12)


It has been two months since Khloë’s diagnosis of Spinal Muscular Atrophy (Type 1). I never thought that we would get through those months without some sort of emergency popping up, but I am happy to say that our baby girl is doing okay! She can still breastfeed, eat pureed foods, laugh, smile, and play with her toys. That is amazing!


Chapstick lover

Flowers and pearls

On Thursday I spoke with Dawn, the neuromuscular nurse coordinator at CHEO. She gave us the news that Khloë was placed on the emergency elective surgery list. This means that Baby Girl will be getting a G-tube put in within the next few weeks. We don’t have a date yet, but the surgery requires a 3 days hospital stay. We are doing the surgery proactively, as Khloë will eventually lose the ability to swallow. She can still have the G-tube and eat orally.

We had another visit from the nurse this week to finish paperwork.

Khloë weighs 16 lb 4 oz, is 28 inches long, and is still wearing size 3 diapers.

SMA: Neuromuscular clinic (July 9)

Khloë’s first Neuromuscular Clinic appointment was July 9th. Clinic only runs on Wednesdays, every other week. Unfortunately, our visit was not as successful as we had hoped it would be. Most of the specialists were great, but one doctor kind of ruined the day for us.

On Tuesday, July 8th we met with Khloë’s pediatrician, Dr I. That appointment went fine as it was just a follow-up on how we were dealing with our daughter’s diagnosis. Dr I asked if she can continue to follow Khloë’s progress; we agreed to this request.

That same day we saw the surgeon who would be performing the G-tube surgery. Dr B was extremely hard to understand and I felt that there was a language barrier. I’m sure he’s a great doctor, but I didn’t feel comfortable with the consult. He doesn’t want to do the surgery while Khloë can still eat orally, but that contradicts what her neurologist said. Dr M originally told us that getting the G-tube proactively, before she is sick and has developed breathing problems, would be better for her, especially in regards to recovery. I think these two doctors need to have a discussion. Jordan and I want Khloë to have the surgery by the fall, at least.

On Wednesday, July 9th we walked back over to the hospital for our first visit to the Neuromuscular Clinic. It turned out to be a long, exhausting day. Khloë was very tired as she was up at 6:30 that morning; she refused to nap before the appointment and then as soon as we arrived I could tell she wanted to sleep. She needed a lot of attention to keep her from being really miserable, so it was hard for me to really concentrate on what the specialists were saying. I felt rushed and overwhelmed.

First we met Kellie, the dietician, who told us to start Khloë on one food at a time to check for allergies. I explained to her that we already give her mixed cereal and various fruits and veggies all within the same days and she hasn’t had any reactions. I’m not going to change the way we feed her because there are no food allergies in our families. I asked her to find out more information about dairy products, as I’ve read that SMA kids have a hard time digesting the fat molecules in dairy because it takes too much of their body’s energy.

The Occupational Therapist was still trying to find us a bath seat. She also found a neat portable pool (it’s tall and deep) which includes a flotation device that keeps the child’s head above water. She’s hoping to get funding to cover that item. The pool would be beneficial since it would give Khloë the ability to really move her arms and legs–aquatherapy!

The physiotherapist showed us how to do chest therapy with percussor cups. We are to do 3 minutes on each lung lobe when she gets a rattle in her chest or when she is ill.

Next up was the respirologist, Dr. K, a few students, and the respiratory technician. I’m not at all fond of the respirologist. He seemed to think us wanting to be proactive with getting Khloë specific equipment early on wasn’t a good idea–we requested a suction machine, CoughAssist, and pulse oximeter. We don’t want to wait until she’s in distress; we want these items as soon as possible so we can be trained on how to use them. He is giving us the suction machine, which the respiratory tech, Carlie, showed us how to use later on. However when I said I wanted the CoughAssist machine (as every single SMA parent has told us to get it ASAP) Dr K said that he only recommends it for children over 5 years old…to which I replied that Khloë may not reach that age. I was getting frustrated by this point. So after he left, Carlie compromised and said she would give us the loaner CoughAssist machine to try out in 2 months time when we go back. Jordan and I have come to the conclusion that we still want it NOW and not in 2 months. I sent an email to Carlie about our decision.

Finally we saw the social worker and explained all our concerns about Dr K. She assured us that if we don’t get what we want, we can always ask for a second opinion because it’s completely our decision about what equipment we want. With the neurologist not being there, we couldn’t go to him. The social worker and our nurse coordinator have been awesome, though!

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.

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