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.

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: 6 months old (27 weeks)

This picture was taken at night so the lighting is a little weird:


27 weeks (June 10)

27 weeks (June 10)


This was a tough week. First Khloë had her six month needle. She did really well because I was able to distract her. She weighed in at 15 lb 7 oz and was 27 inches long! That evening we traveled to Ottawa and stayed over at my sister-in-law’s house.

On June 10th we met with the neurologist at CHEO and learned that our beautiful girl tested positive for Spinal Muscular Atrophy (Type 1). SMA is a very scary genetic disease that I would like to devote an entire post to at a later date, but I will describe it quickly here:

SMA is a motor neuron disease that affects the voluntary muscles that are used for sitting, crawling, walking, neck control, and swallowing. 1 in 6000 babies are born with this disease and 1 in 40 people 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.

Currently Khloë is still able to breastfeed. She doesn’t have any problems nursing, breathing, or swallowing. She looks like any other six month old, except for her low muscle tone and poor neck control. We aren’t sure when more serious problems will arise, but we will do everything we can to keep her healthy and happy. In July we will travel back to CHEO to meet her neuromuscular team.


Cherry dress

Fun at Tante Maaike's

We spent this past weekend in Kingston informing friends and family about Khloë’s diagnosis. While it was definitely an upsetting reason to visit, we still managed to enjoy ourselves. Khloë loved watching her cousin Ashe play and she was all smiles!


Ashe & Khloë

Ashe & Khloë