Hi, everyone – I’m working on a post but it’s still not where I want it to be, so today you get this, plus the announcement of the winners of last week’s draw.
My teenage son has been tentatively diagnosed with a rare genetic disorder that leaves him temporarily paralyzed, among other things. The first episode, in April, was terrifying because we had no idea what was happening, and I actually thought he might die right there in the ICU before they figured it out. The second time, a couple of weeks ago, was terrifying because despite some knowledge and best efforts, here we were again in the ER. It’s a disorder wherein the potassium gets trapped in his cells where it’s stored rather than in his bloodstream where it’s needed, so all the muscles weaken suddenly (technically, an ion channelopathy). The paralysis isn’t even the scariest part; the heart’s a muscle too, and his slows down to dangerous levels during an attack.
It’s surreal, dealing with something so rare nobody at our renowned children’s hospital had ever seen a case. I wound up with a letter from their medical experts so when we roll up to the ER with my kid in crisis the doctors don’t waste precious time deciding whether I’m a nutjob or a fraud. No, a diet rich in potassium doesn’t solve it, because the problem isn’t a lack of potassium there. And there’s no home treatment. When it happens he’s off in an ambulance to the ICU, getting massive IV infusions of potassium and supportive care while they work to keep his heart going. Then –bam— after a day or two, the cellular floodgates open and it all reverses and in 45 minutes he’s totally fine, just a goofy 17-year old again.
I’m good in a crisis, but come on. It’s not like that kid hasn’t been through enough drama in his short life. I did some glaring at the heavens and shaking my fist. Why am I telling you this? I don’t even know, really, except that’s what’s been going on and I’m angry about it, it’s just so freaking unfair to him. And me, how am I coping? Partly by giving stuff away, like this. It’s a larger connectedness to the world and other people which I find reassuring. I can’t explain it any better than that.
Using the magic powers of random.org for the drawing:
Winner of the tiny bottles is Teresa
Winner of the Jolie Madame is Mals86
Winners of the lippies (I broke them into two sets, there’s a lot) are Eldarwen22 and Gina Tabasso
Congrats, and email me your address at perfume diva at g mail dot com
Wow. A bloody toe and a maternal heart attack was bad enough, but a rare genetic disorder in your teenage kid is way tougher than that. Sending you love and support. XO
Shaking my fist at the vagaries of human body misfires on your behalf! That sounds TERRIFYING. It also makes me think of that joke about the Scot with a fly in his whisky: “Spit it out!” Come on cells, spit that potassium out!
I hope your son also has a copy of the letter & won’t hesitate to call for help when an attack threatens. Good for you for pursuing all available sources of information! My fantasy dream for him is that genetic testing identifies the particular gene involved & that there is, or soon will be, a way to modify it to behave normally.
Good wishes to you both!
I have potassium issues of my own, and I can only suggest that you have them keep an eye on his adrenal function. I doubt his issue has anything to do with it, but it can’t hurt to keep it monitored. I’m so glad you have that letter, because I know my problem comes on almost without warning and I am often rendered useless immediately! God bless you both, and please keep us posted.
Poor kid! I’m so sorry for him and for you, too. Life! Criminy! Wishing you both the best.
So sorry to hear. I know what it’s like to deal with a child’s chronic illness as my daughter was diagnosed with juvenile diabetes at age three. One day at a time. One day at a time. Hugs and prayers to you.
March, since this shows itself in the teens, I wonder if it could be triggered by puberty? Hormones go very crazy for a number years before they level off. Just a thought.
I’m so sorry you are going through this. my daughter has had a fair amount of health issues, although nothing quite so terrifying. I understand the shaking your fist at God reaction – you wouldnt be human if you didnt have some anger along with the fear. Take care of yourself also – I have learned the hard way that living with constant fear and anxiety can really take a toll on your own mental and physical health. I’m wishing the best for you and your family
How terrifying and nerve wracking March! I am so glad you live near NIH and big city medical expertise. Nevertheless, while you wait and worry, I’ll be praying for you guys. xoxo
My thoughts are with you and your son. You are a wonderful Mom as you are being so proactive and giving your son the best care and treatment. xx
Oh March! How awful that you all have to deal with this! I hope there are some solutions and that they can be found soon. Sending hugs.
SHIT! Sorry you and he are dealing with this March. All the love, hugs and care in the world sent from the other side of it.
Remember the world still has things like Fried Chicken and waffles.
Portia xxx
Wow, that is so scary and difficult. I’m glad you at least have an idea of what causes the episodes and how to fix it. Hoping for a permanent fix asap!
This must be very scary for you and for your son. Sending both of you love. It occurred to me that perhaps it’s not a genetic disorder since this problem hasn’t shown up before and he is 17. Maybe it’s something simpler that they haven’t figured out yet?
We’re waiting for the genetics test to come back, but nothing else really fits — it’s hypokalemic periodic paralysis, which is often diagnosed as a teenager, oddly enough.
If it’s diagnosed as a teenager, is it an issue that often also goes away around that time? Or is that just the time of onset? This all SUCKS, and I’m sure the constant vigilance is exhausting. Much love to you.
You are in my kindest thoughts.
Paddy
Sending good thoughts and wishes along to your son, you and the family. very scary and stressful. my brother is a neurobiologist who runs a research lab. when difficult illnesses have arisen within the family, he’s always said find a teaching hospital. in addition, someone out there has written a PhD thesis on what is affecting your son or there will be something in the archives of the NIH. If the meds haven’t found it and given it to you yet maybe suggest they do that. Clearly, you may need their help in reading it but as you say the more info you have…
Yup. I live walking distance to NIH, and we’re deep into the genetics process at Childrens…. the genetic workup takes months, but if that makes it “official” we can look at next steps in terms of research.
ah, indeed, oops on NIH. I forget where you live. around how long does the work-up take, and is there a family history of anything related? hope the meds come up with useful info and ways of dealing with the condition very soon.
And, while I’m nattering — I reached the same tentative diagnosis in April as the doctors on rounds, based on my googling strengths. The symptoms are so bizarre and specific there really isn’t another possibility, I don’t think. and I’ve found more useful info on the internet, for sure.
So sorry for your son and you. I hope he will be fine.
Wow! So thrilled to find myself the winner of the lovely little mini bottles! And I count myself among all of your readers whose heart goes out to you, your son and family…sending you hugs and hope that a solution will be found to prevent rather than merely treat these scary situations.
I am so so so sorry. Chronic illness is a bitch. I’ve been through it. May he find strength. Thank you for your charity during this crisis time. Thank you for the lip gels. I will wear them as my lips say a lovingkindness meditation for you and your son.
Good lord, March. Sorry to hear this. How TERRIFYING.
I’m so sorry to hear this. My husband was recently admitted to the ER for critically low potassium–I didn’t even know that was a thing. But what you and he are dealing with is awful. Sending positive thoughts flowing your way. Hope you can connect to an international support group and be more empowered with more info.
I knew it was a thing, but I associated it with people w eating disorders, or other serious health issues. I didn’t think it was a problem on its own.
I’m so sorry to hear this about your son. Cyber hugs to you and your family XXXX
Babysnakes, he’s going to be just FOINE! Watch the Netflix show ‘Diagnosis’ for some WTFisTHIS Rare Disease comfort! That letter (which you should have him keep on his person, in case he has a flareup in Utah or somewhere) will help them not waste valuable time. In the meantime – do as much breathing as you can. This sucks donkey dicks but at least you now know what it is – and now you can devote your Excellent Brain to getting it managed.
Cold Comfort, I know – but it could be SO much worse.
xoxoxoxo and congrats to the winners!!!
Wow, I’ve never had much luck with winning anything in a draw. Will send that email.
Hit post before I finished but that sounds really scary and hopefully they can help him prevent future attacks.
So sorry he his going through this, praying that they find a cure soon, so he can just live normally and not in fear of these unexpected attacks.