Santa Love

Something important – even magical – has happened for Kate. Like any young child, she loves and believes in Santa.

She has spent the past 7 years being terrified of the jolly old elf, but this year the tables are turned. Santa is a regular in our home. We look at picture books about him, we drag around Santa stuffies, we have Santa ornaments and we regularly stalk him at the local malls.

To be honest, we saw the Santa love starting to emerge last Christmas. She watched him from afar, from the safety of holding onto my hand or from her dad’s arms. She was curious of him, she liked to see him and talk about him, but there was no way she was getting close to him, let alone sitting on his knee.

Santa loved has lasted over the much of the past 12 months – in Kate’s world things don’t end just because the ‘season’ is over. We celebrate on an ongoing basis as long as Kate shows interest. We have easily watched Dora’s Christmas Carol, featuring Santa, more than 100 times. (Birthdays and talking about birthday parties lasts a LONG time around here too). But Santa love has gone into overdrive since he started appearing at malls, in holiday decor, at xmas tree farms, and in arts and crafts at school.

He is hands down one of the best markers of Kate’s development. Kate is entering the world of “magical thinking” and pretend play. Suddenly princesses have become important, and playing mommy to her dolls and stuffies, and Santa and loving him and are part of that. Kate’s ability to understand – at some level – the ‘pretend’ of Santa shows a change in her cognition. There is some research that shows understanding ‘pretend’ allows a child to develop greater social understanding, and the ability to understand someone’s else’s perspective and this leads to an increase in social interaction and social play.

For our family, it is the joy of seeing a little girl with so many challenges light up at the sight of a warm and friendly person in a bright red suit at Christmas time. It is the heart-bursting moment of seeing her ‘get it’, and to see her excitement and joy, and knowing that she is her own little person growing at her own pace, but that she can enjoy Santa just as others can.

There have been many Santa moments for us this year – all of them wonderful. The most recent highlight at the Rogers House Christmas Party, Kate asking Santa for what she wants most for Christmas – French Fries.

Kate and Santa 2014

 

Julie

 

 

Feeling Included.

Bloom is a fantastic special needs, medically fragile, medically complex parenting blog from Holland Bloorview and edited by my friend Louise Kinross. (Incidentally, if you like them please consider supporting them as they run solely on donations).

This is a recent article that was posted, and I wanted to share it with you here and let you know my thoughts about it.

The first time I read the Invisible Mom I didn’t think that was me. I understood it and felt strong empathy for Aaron’s mom, but I didn’t think I felt the same pain and angst of exclusion as she.

But then I started considering how Kate is ‘included’ and ‘excluded’, deliberately or not. I reflected on the moments where her differences stand out so starkly and where I hustle to make excuses for her…

…”she can’t hear you”

“yes, she’s 7…but she’s more like a 3-4-5 year old”

“she is signing or saying this that or the other thing”

“well, she could come to the party…but maybe I should come too…to help…and she’ll probably have to leave early”

She’s the kid who leaves early from school, is often sick, wears the funny helmet, has a tube in her nose, doesn’t speak, sometimes hits the other kids, is often in her wheelchair stroller because of fatigue, runs away and won’t come back, doesn’t understand when you ask what her favorite color is (but she can tell you her name and how she is!!). Some (few) make an effort to include Kate, but playdates, birthday party invites, get togethers with the girls is not really part of her life sadly.

She loses her peer group annually as others grow and mature and learn and she is left behind. Her reality is that adults are her friends – and the few children whose parents facilitate them staying engaged with Kate.

Do I feel left out? Sometimes, yes.

Am I sad?  Yes, I grieve ‘loss’.

More importantly, does Kate feel left out? No.  Is she sad? Nope.  She has her friends at school that will change year to year, but that she values nonetheless, she has her friends at Rogers House (Myah, Moon Pie, Buffa, Mat-teww), and her adult friends (Christine, Kat, Erin, Kara, Adrienne, Vanessa, Steffi, Tall Steve, and more) that she loves. She is developing her own friendships and through those connections, I am finding my peer group of moms and friends as well. A different peer group than what you would expect, but a very valuable one.

I don’t think I am invisible mom. I think people see me. If they don’t I usually make them see me and Kate.

I wish for so many things for her. I wish for playdates and friends and movies and outings and independence.

I do feel sad sometimes. But Kate isn’t. Not yet. For now she is happy. Like Aaron’s mom I hope she never has to understand or become aware of the pain of invisibility.

Julie

 

A

Anniversary Weekend – Part 1

Still waiting for our SIFD party

Still waiting for our SIFD party

 

Today is the anniversary of Kate’s diagnosis.

It’s hard to believe that three years ago today we sat in the office of Dr.C (you can read about Meeting Dr.C here) our metabolics and genetics doctor and learned that Kate has a new and ultra-rare recessive genetic disease that she inherited from Brian and I. It reminds me a lot of this article by Matthew Might, dad to a son who also has an ultra-rare disease and was also an N=1 (as I wrote about here).

To quote Matt Might:

If found my daughter’s killer.

It took over 4 years.

But we did it.

I should point out one thing. My daughter is still alive. 

Yet. My husband Brian and I have been found responsible for her death.

 

When we were told that they had diagnosed Kate, there was a moment for me – just a brief moment when I received the call to come in for a meeting with Dr.C to discuss our test results, that maybe there was something they could do for her. A moment of excitement (?)… No. That’s not the right word. HOPE.

The moment did not last. As Dr.C talked about genes and exome-genetic sequencing and recessive genetic this and that. I listened. But I didn’t at the same time. I knew that if they could do something for Kate. If this was something ‘common’ or least ‘known’. If the medical team could help her – they would start with that.

They didn’t.

We looked at graphs. We looked at stains of Kate’s actual genetic coding for the TRNT1 gene. We talked about genetic condons of GCT –  GAT – ATC and any other combination of those 64 triplets of nucleotides that make up our genetic code.

And then, Dr.C took a ‘picture’ of Kate’s TRNT1 gene profile and overlaid mine and the Brian’s. They matched. My heart fell into my stomach. I was trying to understand. Trying to nod my head in comprehension. Trying to be brave. Trying.

Kate has inherited the exact same mutation from Brian and I on the gene known as TRNT1.

It had never been seen before.

Our children had a 1 in 4 chance of inheriting this disease. A silent killer. Completely unknown.

Jack isn’t affected, but could be a carrier. We haven’t had him tested.

The mutation has caused a deficiency in the protein needed for this gene to do it’s job. That deficiency (variable) has caused an incredibly shocking cascade effect through Kate’s body – resulting in the multiple medical conditions and ongoing acute illnesses she suffers today.

To quote Dr.H (PhD), a researcher working on Kate’s disease. “It is hard to believe a deficiency on one gene could wreak so much havoc on the body”.

 

What We Know

Here we are, three years after our ‘diagnosis’ and here is what we know.

There are approximately 18 known cases of SIFD worldwide. After Kate was diagnosed, our brave Dr.C took a leap of faith and share the genetic findings with a physician he had been working with at Boston Children’s Hospital. Their collaboration led to the first cases being confirmed, and to the establishment of an international medical and research team that continues to work on SIFD to this day.
Their efforts have resulted in a paper that describes the condition of SIFD. You can read about it here:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3761334/

A description of the TRNT1 gene deficiency that causes SIFD was recently published in the Journal Blood (September 2014).

http://www.bloodjournal.org/content/124/18/2763.full.print?sso-checked=true

Here is a picture of how the mitochondria are affected by TRNT1 deficiency – making SIFD a mitochondria disease. (I’m still trying to understand it too. Sigh.)

 

F1.medium

Many of the diagnosis of SIFD in the patients referenced in the article were done post-mortem. These children tend to die in early childhood – under the age of 4. They were identified and tested based on the cluster of symptoms they had presented with.

To my knowledge, there are 5 children alive today who are known to have SIFD. Four in the UK, and 1 in Canada. Kate.

I have recently been told of 2 more cases in the US and Brazil, but am not sure if these children are still alive.

The children have a variable severity of disease. Ranging from severe to mild. Kate is considered moderate. The children are treated with blood transfusions if their sideroblastic anemia is severe enough, immunogloblulin therapy to treat the b-cell immungloblulin deficiency, many have tried Kineret and prednisone to ‘treat’ or control the episodes of fever or inflammatory cascades (with differing degrees of efficacy), all are hospitalized regularly and monitored for cardiac myopathy – a severe and deadly effect of the disease, and inflammatory cascades (or Kate’s Episodes as we call them), which can also be life-threatning.

To date, 4 children have received a bone marrow transplant (BMT) to treat the disease and curb it’s course.

The first child done was a ‘hail mary’ as his sideroblastic anemia and periodic episodes were so severe his doctors had no other recourse. His BMT was done before SIFD was even discovered. He is doing very well. No effects from the disease.

The second child died during the BMT procedure. She was also very unwell.

The third child is also doing well and had less severe form of the disease. He is off of any intervening treatments and not experiencing any further episodes.

The fourth child was transplanted just recently (October 2014) and there is no information about his/her status.

BMT is an option for Kate. A terrible, awful, terrifying option – but an option nonetheless. It has been offered to us.

The CHEO Research Institute, Boston Children’s, and the Manchester, UK Children’s Hospital are all working on different features of the disease.

I call them regularly asking them if they are any closer to a cure. They are not. They are understanding the protein deficiency better – and all the mice they give it to die. They know what needs to be fixed, they just aren’t sure how to do it. I’ve offered to bring Kate for a visit – to create enthusiasm among the research team – to introduce them to the  little girl behind all of these incredible efforts – to expose them to the genuine JOY that is Kate.

There is nothing more motivating than wanting to help her.

 

My hope is that we find more children like Kate and the others and are able to learn from one another to help facilitate better management of the disease – share our stories – support our medical teams in finding a treatment or a cure.

I am looking for ways to do that.

 

Julie

 

Turtle Turtle

Turtle 1

 

Turtle.

It’s my word for when I retreat into myself.
It’s when I know that I am struggling and need to shut out the ‘noise’ of life.

I go silent. I get quiet. I don’t return email or calls or texts. I don’t go out. I sleep in. I cancel things – or I don’t show up.

Turtling comes from a place of being overwhelmed, which can be an easy thing to happen when you have an extremely unpredictable life.

It’s my code word, and those close to me know what it means. I’ve even thrown it out there on FB before “Turtle” will be my post, and my code word is understood and respected. Some friends will respond with “hugs” or words of encouragement, others with a “question mark”. It depends on how well you know me, and how well you understand the life I am leading.

My turtling metaphor indicates retreating. Pulling into my shell and self-isolating in a hope for self-preservation. It is instinctive and unplanned. It just – happens, and it is absolutely necessary. No one can keep this pace indefinitely. It is unplanned, but it happens when it is needed and when there is space and time for it. (It’s hard to turtle when you have to “on” and have to be a medical/school/therapy/treatment/acute illness hardcore warrior mama). It’s like getting a bad cold  or flu when you are on holidays…like your body finally realizes you are on a break and “have time” to get sick.

And Turtling isn’t depression. It’s blue and can be sad, but it’s different every time. It’s sort of an unplanned shut down. You haven’t plugged your power cord in for awhile and you’ve been ignoring those pop-up warning messages, so you go into forced shut down. It doesn’t feel good to go into unplanned shut down, and you aren’t sure how long it will take to power up again.

Why Turtle?

The shell. I pull into it. It’s sound proof and there are no windows or doors to peak in to see what I am doing. It’s dark and muffled and the space is small enough that I don’t have to invite anyone else in. But…if I need to poke my head out for something, I can.

And it’s hard – the shell – it protects me. I like that.

Am I Turtling now? You are probably wondering as I write this. I’d have to answer yes. Having a hard time with wanting to be out and about. Overwhelmed with decision making and intense responsibility that are beyond what you can imagine – or anyone should have to go through. (Seriously beyond. Like 1 in 7 billion beyond). Taxed.

How long will the Turtle last? It’s hard to tell. This one is a doozy. I feel like it will be awhile.

Do I still smile while I turtle? Yes. I do. And people ask how I am and I say ‘fine’. What do you say? Just smile and nod. Smile an nod. (And I find cute images of turtles to share).

Turtle 2

Those mom friends of mine out there who are reading this, and have special kids like Kate understand what I am writing here. I’m sure you call it something different. I know you have experienced it – and will again. My words of wisdom/advice, embrace it. Let it wash over you and don’t fight it. Let the Turtling happen. Every now and then poke your head out to see what is going on, to remember there is a life you have outside the shell that is important, be sure to get the basics done, and make at least one plan for the day (today I will make a meal, today I will run one errand, today I will make one phone call), and slowly ramp up those ambitions to draw yourself out of the shell – but don’t rush it. Decide what ‘noise’ is the most important and pay attention to that first.

Be social?  Well, you can. But it will exhaust you and people won’t understand. Phone calls can be good, if you have the energy. You may want to warn the person on the other line that you will be random, you may cry, you may rant, may be angry, or just sullen and moody. Try not to be too angry at every other living person. I walk around in a fog of feeling like I am on parallel universe to others who can’t relate at all to my life. (Warning: hanging around really happy people may make you want to slap them.)

You may also want to avoid driving. (Those red things at intersections are stop signs).

Exercise? Again, you can. But sleep and pyjamas feel more like the right thing to do. Then again, going for a good walk is probably well advised. (And I am a RUNNER).

Eat Well? It is advised. Throw in some chocolate for good measure. Be wary of too much sugar and caffeine though. You may not realize it, but Turtling likely means you are running on fumes and adrenaline. Adding a load of caffeine and sugar to that mix can be harsh. Wine is also a part of this. I’ve been told that more than 9 (6 ounce) glasses a week can be problematic. (Really??!!)

Sleep? Yup. At first you won’t. The lead up for me is my mind racing, staying up too late, not able to settle into sleep (and Kate doesn’t help that). Then the crash that precedes the Turtling happens and post crash all you will want to do is sleep. Hopefully you can set yourself up to get some. Respite from your child will also help.

(The above are the four most basic prescriptions of the ‘experts’ the doctors, counsellors, and advisors that we speak to. They do work, but when you are in the middle of Turtling you sort of want to thumb your nose at them. It’s hard to get the momentum to do any of these well. Self-care isn’t the first step when you are Turtling.)

Just remember you can’t stay in the cozy shell forever. Life is still happening and moving along. For the life we lead, Turtling too long can be disastrous. And you can probably count on your unpredictable kiddo to yank you out of Turtling PDQ (pretty darn quick), if they decide to get acutely unwell while you are holed up in your shell. “No more of that mom, I need attention now! Off to CHEO we go!”

And so the cycle goes. Recognize it for what it is.We can’t live this life of constant stress, worry, fear, anxiety, sadness, grief, joy, happiness, relief, frustration, anger, vigilance without turtling every now and then. I have realized it is physically impossible. I/we need moments where we shut down. It is a basic survivability necessity.

Turtle Turtle, welcome to your shell.

Julie

(Written as I sit here in my pyjamas and contemplate my ambition for the day. A shower perhaps?)

A Random Post

There are so many potential posts swirling around in my head lately. I want to capture them all, write about all of them, be eloquent and exciting and detailed about all of them – but I fear losing them. So I am going to make an attempt at dumping them all here – as short summaries – in one blog post. Hope it works for you. (Hope it works for me).

 

Summer Fun and Challenges

Summer is supposed to be fun. Care free, memorable, full of family time.

Care free is difficult when you have a medically fragile child and one who has developmental challenges like Kate. You never have your guard down, even when you seem to be in the most ‘relaxing’ of of ‘summer fun’ situations, e.g. at a friend’s cottage, at the park, swimming at the local pool. You are constantly watching, managing and worrying. And ‘constant’ in the key word here. There is never a down moment. There is no leisurely time by the pool, dock, lake – and there is no time when your aren’t planning ‘what’s next’, e.g. food, medications, feeds, energy management etc.

It is not a normal life and summer is not summer fun. We have good memories – we enjoy ourselves with friends and family (especially those who ‘get it’ and help with Kate), but it is not easy and sometimes we long for routine and for a break.

I feel a small amount of guilt as I reflect on our summer. A family holiday gone awry due to an episode of Kate’s SIFD, having to adjust things for Jack constantly and not spending as much time with him as I would have liked, feeling like this summer slipped away somehow.

 

Breaks

Child care costs and arm and a leg. Many parents off set this with camps in the summer. But what do you do when you 7 year old child can’t attend the ‘typical’ summer camp? What do you do when you are paying your specialized one to one caregiver 8-9 hours a day so that you can go to work and make money  – to keep your job and pay your caregiver?

In our case, we do just that – we work to keep our wonderful caregiver and we try and normalize Kate’s life an find her opportunities to attend day camps – like other kids.

Kate has had two amazing camp experiences this year. And we are so happy for her to have had the opportunity that other kids have had. She attended a Deaf camp this year for the second time. Yes, her caregiver attended with her, and yes she got tired and needed that extra support. But she loved it and had such an amazing time with other children who are Deaf and hard of hearing from the community. It is a small community, but the children embrace one another and there was so much support for Kate. A wonderful time for her.

And then she attended gymnastics camp for two weeks, and yes it had ups and downs for a child who has an energy disrupting disease that might not be able to keep up with the ‘regular’ kids. But she was fully supported at OGC, and our experience there has been amazing. Kate has been a gymnast since before she could walk independently and there was a never a question from OGC about how she could participate. They simply asked what she needed and they made it happen. Kate went to camp 2 full weeks this summer – drop off and pick up – no mom involvement needed -and it was hard for her, but also fantastic. Fantastic. I will be forever grateful for the OGC team.

And then there the wonderful friends who ‘get it’ and offer to take Kate to the park, or for a swim, or take a turn being vigilant at a cottage, or chase her around the yard at a neighbourhood barbecue. And we take it in stride, but are grateful for the break. The break in vigilance, the break in the constant humming of watchfulness.

 

Ignoring CHEO

And I mean this in the most respectful way, but not having to engage with CHEO unless absolutely necessary has been great. Clinics slow down and don’t want to see us, and the demands are a little less. Kate was sick in July  and needed to be hospitalized (ugh), and she had weekly transfusions of her immunogloblulins which required us to be there for a few hours a week (ugh), and she needed bloodwork  a few times (ugh). But we did slow down on our interaction and visits a little and it was nice.

 

Episode

What would summer be without an episode her SIFD becoming acute??

Really, doesn’t everyone have their only 2 weeks of summer holidays interrupted by a visit to the emergency department and an acute hospitalization?

Eff.

Enough said.

 

Preparing for School

Such a love / hate relationship. Get us back in to routine. Now!

Dreading the constant to and fro of managing Kate’s symptoms and her health. And this year, starting at a new school and worrying about what that will look like and how that will be managed and what the issues might be that will come up (cause you know they will  and no – they are not the ‘typical’ kid issues).

I have been working since late July to get school transportation sorted. It hasn’t sorted yet and school starts in less than 36 hours. Sigh. My special needs community is probably right, this won’t be sorted out for a a week or so and I will likely be driving Kate myself.

We have a new teaching team, therapy team, specialized services team, principle etc. How to direct and manage all of them and be sure Kate has the best experience she can.

Point of reference: I send Jack to school with a solid lunch and back pack stocked with school supplies and end my worries there.

I know the daily phone calls from school are about to begin and I am ready. Not dreading, just resigned that this is the price to pay to have Kate attend school. And I have my moments – many of them – when I wonder if sending her to school is ‘worth it’, then I remind myself of the break and the need for her to at least be around other kids that are somewhat close in age to her.

 

And so this was summer.

Sunny days watching Kate ‘swim’ and slide down the slide at the local pool.

Watching her ‘tube’ behind a boat for the first time.

Marvelling at her being the first into the lake – every time.

Listening to her giggles as we exhaustingly give into her endless requests to go the park in the late evening.

Watching her skin tan and bronze (with sunscreen) and leave a tell tale tan line where her NG tube changes sides each month.

Watching her suffer through a ‘cottage’ weekend with an episode and finally deciding the cottage week of fun was not to be this year.

Letting Jack tow Kate behind him in her own kayak – and feeling a warm glow knowing he has his sister’s back.

Checking on Kate in the late evening before we go to bed and listening to the contented snoring of a child who has had busy day.

Knowing she has had a solid summer of happiness and realizing that this is a gift. Her 7th summer with us.

 

Happy summer 2014 everyone!

 

Julie