You Know What Really Makes Me Happy v2...

[chedder]

Originally Posted by bagofpucks

Surferguy will like this one too...



We have been having dance parties with my toddler daughter after bath time. We have a “quiet song” to end the party and get ready for bed. She always asks for the loon song, which is of course wheat kings by the tragically hip and my favorite song. Of course, we hardly brain washed her that it’s an awesome song...but still makes my heart grow three sizes when she asks for it.

That's awesome! I sang Wheat Kings to my 14 year old most nights at bedtime until she was at least 10. That and Elderly Woman Behind the Counter In A Small Town by Pearl Jam.

[peter12]

Originally Posted by bagofpucks

Surferguy will like this one too...

We have been having dance parties with my toddler daughter after bath time. We have a “quiet song” to end the party and get ready for bed. She always asks for the loon song, which is of course wheat kings by the tragically hip and my favorite song. Of course, we hardly brain washed her that it’s an awesome song...but still makes my heart grow three sizes when she asks for it.

This is superb parenting.

[bagofpucks]

I actually have a hilarious video of her rocking out to courage as we were driving home one day. Always good when you’re kid is making you laugh so hard you have to park the truck and take a video.

[undercoverbrother]

Originally Posted by bagofpucks

I actually have a hilarious video of her rocking out to courage as we were driving home one day. Always good when you’re kid is making you laugh so hard you have to park the truck and take a video.

Both my kids live by this rule in the car, if we are radio surfing and the Hip is on you can't change the station.

[bc-chris]

my kids crack me up...
our daughter is in grade 2 and learning multiplication
our son is in kindergarten and always wants to be included in the fun "games" his older sister gets to play, so it was his turn to try this game his sister was playing with mom.
this is how the conversation went:

mom: ok matthew, what is 4 x 1?
matthew: 4!!!
mom: excellent. ok matthew... what is 4 + 1?
matthew: math!!


ha! ha! i don't know how he comes up with this stuff. i think there will be a lot of laughing in our house over the next number of years!

[bagofpucks]

Yes, I always thought being a parent would be awesome and of course, there are many not so awesome parts too. But nothing prepared me for how funny they would be.

Today, I had a quick break between meetings and could hear the family raising hell outside my office door, so figured I might as well get in on the fun. As soon as I opened the door our 8 month old locked eyes on me and army crawled (he’s not quite full crawling yet, but he is pretty quick) all the way down a pretty long hallway, staring me down the whole way. Turns out, he just wanted to wrestle a bit and he definitely had the intimidating stare going for him.

[Lubicon]

Time change is this weekend, that makes me happy. The one time loss of sleep is more than made up for by longer daylight in the evening.

[Weitz]

Got headhunted by a company, and gave notice for my current role today. Always feels great to be wanted.

[Minnie]

This is, for all intents and purposes, a good thing that I'm happy about, but we finally have most of the results from my daughter's genetic testing. She first saw the geneticist in August 2019 and got a diagnosis of Ehlers Danlos Syndrome (EDS), with comorbidities of Postural Orthostatic Tachycardia Syndrome (POTS) with a side of Inappropriate Sinus Tachycardia (IST), and Mast Cell Activation Syndrome (MCAS) - these are all known comorbidities to EDS. An entirely separate diagnosis, which may or may not be connected to the EDS, is Trigeminal Neuralgia. She is fortunate that the worst of the TN is controlled by medication.

Today, after months more investigation and testing, she has been given a diagnosis of a metabolic disorder. She has some weird crap going on there too, so more testing is happening, because she has something known as "synergistic heterozygosity" - it's all very much MUCH, which I don't fully understand, but functionally, she has something called Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD). It's basically one of a bunch of fatty acid oxidization disorders. She has some weird stuff along the chain, which is throwing them for a bit of a loop, hence more testing (he said she's rare all around lol). She is one of the rarer cases not diagnosed until adulthood, mainly because AB doesn't do a lot of newborn screening, or didn't used to, when she was born. In hindsight, it explains a LOT of things we just contributed to as the odd way her body responds to things.

It also means that I now will undergo some genetic testing, and the geneticist has sent a note to our GP to refer one of my sons to him for testing as well, based on our initial intake interview with him and further conversations as this testing has gone on for my daughter. There is some question as to whether or not he also has EDS and/or possibly Marfan Syndrome, and also this same genetic mutation that would mean he also has MCADD.

It's been 10 very long years to get to where we are today but I am very happy that we finally have some answers. I had long wondered if there was something besides the EDS going on, which is a diagnosis I thought she'd end up getting after copious amounts of research, reading medical journals, speaking with doctor friends, etc. I also believed, however, that something else was off but could never get anyone to listen to me, that could do anything about it, not even with her ortho backing me up and insisting something was up. Now we know.

She will, for the time being, be placed on what they call the Mito Cocktail, which is essentially just a massive bunch of supplements - she has been on some of them for several months, but she will now get the entire list and will have to add in a few more. They are doing a bit more testing and then she may be referred to metabolics. It may end up that her geneticist oversees things, because we all know what trying to get into specialists is like right now - essentially, she'd have the same course of treatment either way, so who "gets" her isn't a big deal - she can be supported by either metabolics or her geneticist. She will have to have some extra monitoring for any surgical procedures because of how the MCADD causes the body to react to metabolic stressors like surgery and illness. We will also likely have to get in touch with a dietician to get a bit of assistance in sorting out her diet (she will have to eat many smaller meals through the day and consume more complex carbohydrates, especially at bedtime, and balance this in such a way she doesn't suddenly balloon in weight). It has been suggested she could get a glucometer because hypoglycemia is a hallmark of MCADD, but I imagine to have it covered by her insurance, she'd have to have a prescription for it? None of the mito cocktail stuff is covered, unfortunately.

In the end, it's good to finally have answers and an official diagnosis, so that when I tell medical staff all of this, I don't get blown off, lol. Typically, if I tell them she metabolizes things fast, gets hypoglycemic, etc, they blow me off, but now we have proof. She had a procedure done in Nov wherein I told them this MCADD testing was in the works and that she needed to be tested prior to the procedure for hypoglycemia based on the symptoms I was seeing and because she had to fast, after a fashion, consuming only the colon prep diet and that ick for the procedure (basically not ideal for people with MCADD & other similar fatty acid oxidization disorders), they kind of sighed heavily but tested and ended up having to give her some glucose. They also found out during the procedure that she does indeed metabolize very quickly, as she woke up before they were finished (endoscopy & colonoscopy). Her geneticist will provide her with a letter we have to make copies of, that outlines the specific support needed in an emergency or medical scenario, so that it can be carried on her person or that we can present on her behalf if such situations arise (like surgery).

In the meantime, she has all the appropriate specialists in place, thankfully, so she should be monitored quite well, one hopes. Even the potential diagnosis of MCADD prompted a couple of further tests from neuro and cardio, but so far, so good on those fronts. She will have those other tests done routinely now, though.

Thank hank for genetics specialists. It's been 10 years to get here, but I'm happy we are finally most of the way there and have answers now, so that her care and treatment will always be appropriate from here on out. Sorry for the TL;DR.

[RichieRich]

Originally Posted by Minnie

This is, for all intents and purposes, a good thing that I'm happy about, but we finally have most of the results from my daughter's genetic testing. She first saw the geneticist in August 2019 and got a diagnosis of Ehlers Danlos Syndrome (EDS), with comorbidities of Postural Orthostatic Tachycardia Syndrome (POTS) with a side of Inappropriate Sinus Tachycardia (IST), and Mast Cell Activation Syndrome (MCAS) - these are all known comorbidities to EDS. An entirely separate diagnosis, which may or may not be connected to the EDS, is Trigeminal Neuralgia. She is fortunate that the worst of the TN is controlled by medication.

Today, after months more investigation and testing, she has been given a diagnosis of a metabolic disorder. She has some weird crap going on there too, so more testing is happening, because she has something known as "synergistic heterozygosity" - it's all very much MUCH, which I don't fully understand, but functionally, she has something called Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD). It's basically one of a bunch of fatty acid oxidization disorders. She has some weird stuff along the chain, which is throwing them for a bit of a loop, hence more testing (he said she's rare all around lol). She is one of the rarer cases not diagnosed until adulthood, mainly because AB doesn't do a lot of newborn screening, or didn't used to, when she was born. In hindsight, it explains a LOT of things we just contributed to as the odd way her body responds to things.

It also means that I now will undergo some genetic testing, and the geneticist has sent a note to our GP to refer one of my sons to him for testing as well, based on our initial intake interview with him and further conversations as this testing has gone on for my daughter. There is some question as to whether or not he also has EDS and/or possibly Marfan Syndrome, and also this same genetic mutation that would mean he also has MCADD.

It's been 10 very long years to get to where we are today but I am very happy that we finally have some answers. I had long wondered if there was something besides the EDS going on, which is a diagnosis I thought she'd end up getting after copious amounts of research, reading medical journals, speaking with doctor friends, etc. I also believed, however, that something else was off but could never get anyone to listen to me, that could do anything about it, not even with her ortho backing me up and insisting something was up. Now we know.

She will, for the time being, be placed on what they call the Mito Cocktail, which is essentially just a massive bunch of supplements - she has been on some of them for several months, but she will now get the entire list and will have to add in a few more. They are doing a bit more testing and then she may be referred to metabolics. It may end up that her geneticist oversees things, because we all know what trying to get into specialists is like right now - essentially, she'd have the same course of treatment either way, so who "gets" her isn't a big deal - she can be supported by either metabolics or her geneticist. She will have to have some extra monitoring for any surgical procedures because of how the MCADD causes the body to react to metabolic stressors like surgery and illness. We will also likely have to get in touch with a dietician to get a bit of assistance in sorting out her diet (she will have to eat many smaller meals through the day and consume more complex carbohydrates, especially at bedtime, and balance this in such a way she doesn't suddenly balloon in weight). It has been suggested she could get a glucometer because hypoglycemia is a hallmark of MCADD, but I imagine to have it covered by her insurance, she'd have to have a prescription for it? None of the mito cocktail stuff is covered, unfortunately.

In the end, it's good to finally have answers and an official diagnosis, so that when I tell medical staff all of this, I don't get blown off, lol. Typically, if I tell them she metabolizes things fast, gets hypoglycemic, etc, they blow me off, but now we have proof. She had a procedure done in Nov wherein I told them this MCADD testing was in the works and that she needed to be tested prior to the procedure for hypoglycemia based on the symptoms I was seeing and because she had to fast, after a fashion, consuming only the colon prep diet and that ick for the procedure (basically not ideal for people with MCADD & other similar fatty acid oxidization disorders), they kind of sighed heavily but tested and ended up having to give her some glucose. They also found out during the procedure that she does indeed metabolize very quickly, as she woke up before they were finished (endoscopy & colonoscopy). Her geneticist will provide her with a letter we have to make copies of, that outlines the specific support needed in an emergency or medical scenario, so that it can be carried on her person or that we can present on her behalf if such situations arise (like surgery).

In the meantime, she has all the appropriate specialists in place, thankfully, so she should be monitored quite well, one hopes. Even the potential diagnosis of MCADD prompted a couple of further tests from neuro and cardio, but so far, so good on those fronts. She will have those other tests done routinely now, though.

Thank hank for genetics specialists. It's been 10 years to get here, but I'm happy we are finally most of the way there and have answers now, so that her care and treatment will always be appropriate from here on out. Sorry for the TL;DR.

Wow that's many years and I'm 100% certain a lot of complexity and stress and anxiety. Having something labelled certainly helps immensely going forward especially with something so complex. At least you end up in front of the right docs and have ongoing care plan and treatments.



Having some family members go through many years of testing and unknowns I can certainly relate and offer congratulations for keeping at this. Empathy too. I would highly highly recommend, if not already done, that you also consider working with someone to test food sensitivities (IGG testing). You GP will not likely be able to help. This *might* come up with a dietician but is extremely important that you get diet absolutely nailed. I've written on this before on CP, but personally getting my IGG's figured was a life changer. As was for one of my children. And a parent.

[Minnie]

Originally Posted by RichieRich

Wow that's many years and I'm 100% certain a lot of complexity and stress and anxiety. Having something labelled certainly helps immensely going forward especially with something so complex. At least you end up in front of the right docs and have ongoing care plan and treatments.



Having some family members go through many years of testing and unknowns I can certainly relate and offer congratulations for keeping at this. Empathy too. I would highly highly recommend, if not already done, that you also consider working with someone to test food sensitivities (IGG testing). You GP will not likely be able to help. This *might* come up with a dietician but is extremely important that you get diet absolutely nailed. I've written on this before on CP, but personally getting my IGG's figured was a life changer. As was for one of my children. And a parent.

Thank you. I will look into this.

[Fuzz]

I just did a quick search for IGG testing, and the first links appear to be good sources saying it doesn't work, and isn't supported, so maybe that's why your GP can't help with it...I haven't looked very deeply though.

[RichieRich]

Originally Posted by Fuzz

I just did a quick search for IGG testing, and the first links appear to be good sources saying it doesn't work, and isn't supported, so maybe that's why your GP can't help with it...I haven't looked very deeply though.

See that's just the problem man. GP's generally don't get trained on this stuff. Some have developed interests and educated themselves. My GP actually accepts this and we can have a real conversation.



There *IS* actually a health-support role for good naturopaths and integrated medicine. Sadly there are bad ones too and they seem to make the news. Unfortunately many people would rather pop pills and drugs for life than change their lifestyle choices. Drugs often result in secondary issues... the symptoms, but not always the cause of the issue(s). It's only once you've been down that nasty road and suffered... then tried an appropriate and properly guided integrated medical approach that actually works that you realize this.



Think of this... 30-40 years ago they told celiacs and other food-sensitivity people that it was just a psychological problem and to get mental help. No joke. I've seen the letter from AHS to someone I know. Today they accept it's possible. Today however there are still those that don't differentiate between ALLERGY and Sensitivity. That's the no-mans land that I fell into before getting it figured out... and the response/recovery was significant. I know several others who have had very positive experiences too.

[GGG]

The problem with IGG is the rate of false positive is very high.

So with or without IGG you still have to do an elimination diet and food journal to find the things you are sensitive to. So you get an IGG panel, you start an elimination diet based on the foods you are most sensitive to, and eventually you find out through the elimination diet which foods affect you.

So does the IGG test actually do anything in the above scenario? I think it helps by by someone telling the patient they believe them and it helps compliance with an elimination diet because you paid money for a test so you are incentivized not to waste it. So like many of the psudohealthcare roles they provide a positive outcome but not necessarily by doing what they say they are doing.

I’m solidly on team Fodmap if the easy fixes like Gluten / Lactose don’t resolve issues

[RichieRich]

IGG helped me choose to either totally eliminate some foods or choose to limit exposure frequency. For some foods it was a surprise and I would not have considered them to be problems. Back when I did the IGG nobody had ever even brought up FODMAP.

[keratosis]

Made cabbage rolls for dinner tonight.

[Hanni]

For the first time since I was probably 19 or 20 the scale read under 220 this morning, lots of hard work paying off, still 20 more to go hopefully.

[undercoverbrother]

Originally Posted by Hanni

For the first time since I was probably 19 or 20 the scale read under 220 this morning, lots of hard work paying off, still 20 more to go hopefully.

Congrats no mean feat

[btimbit]

Saw a wild gaggle of street sweepers out today. Heard that road painting and summer maintenance starts in 2 weeks.

Safe to bring out the summer car soon, spring is finally here

[undercoverbrother]

I went for a run today, it wasn't long enough it wasn't fast enough and i'm not thin enough, but I went for a run.