Posts Tagged ‘terminal illness’

I’ve been holding off on actually doing a detailed post until I got a couple appointments out of the way.

So here goes…

L had a Pulmonary appointment and Pulmonary Hypertension Specialist appointment on the same day.


Pulmonary listened to her, and agreed something was wrong, but they thought her PH was getting worse. They shuffled us off to the PH specialist, but told us that we were to start giving her an inhaler before activity, as opposed to just giving it to her when she had a cold and we needed to do chest percussions.

We’re also supposed to keep monitoring her and the plan is to do a pulse-ox overnight test. 

He also had us sign a consent, saying “If the (PH) specialist wants to do a right-heart cath (which is the gold standard for getting a real read of pressures – echoes are just an estimate), that they would go ahead and do a bronchoscopy with bronchial lavage at the same time.” The bronchial lavage would be a salt water rinse of the lungs if they saw evidence of thick mucous.


The PH specialist did an echo, and said that the pressures in her heart looked great, and therefore he did not believe it was her PH getting worse. That, instead, it was her lungs. So he’s pushing it back onto Pulmonary, although he does agree with the inhaler before activity, Pulse-ox monitoring, etc.

He also said “If the (Pulmonary) specialist wants to do a bronchoscopy, we’ll go ahead and do a right-heart cath at the same time.” So do you see an issue there? Both of them want to do something, but don’t want to do it unless the other is going to do it. sigh

She had her first six-minute walk, and did fantastic on it. They don’t like to do them in kids younger than six, because of their ability to stay focused and such, but L did it with no problem whatsoever. I stood at one end of the hall, K at the other, and she got a kiss and a swift hug every time she reached one of us. She did 1100 in distance, and her sats stayed in a good range.

That’s another reason why the PH doctor thinks its pulmonary. He says if it was her PH, it would be affecting her all the time – not just sporadically. 

I wanted to yell at him at this point, because I felt at first like he wasn’t acknowledging something was going on, when its obvious that something is.  But he is acknowledging that something’s up, just that ‘objective evidence says its not her PH’.


So now its wait, see, monitor, record, and poke both specialists frequently until we get some answers.

I understand why they don’t want to put her under. I do. Because each time she gets put under, her risks of complications from the anesthesia increase. The chances of her needing supplemental oxygen for a bit afterwards (because of the lavage) is higher.

But I still feel that we need to do it. We need to find out what is going on, specifically. Because something is

Also, the PH specialist does think we should have L tested for the FLNA mutation, as the genetics doctor had recommended, because it could ‘change the course of treatment’. He, however, did not say  HOW it would change things.


So I called Genetics, and asked them to submit the order for the FLNA and POL-G testing for L to the outpatient lab, so that next time L went for her monthly finger poke, we could just get it done at the same time. No extra trips for blood draws. No more pokes than necessary.

“Oh, well, we have to consult with the doctor to make sure its okay.” ARE YOU FREAKING KIDDING ME? THEY are the ones, in their letter to me about G’s condition, had said that they wanted to get L tested. They are the ones that said they feel strongly that L does have x-linked periventricular nodular heterotopia. They’re the ones that said contact us to get things set up. They met with us a couple times over G. They have all the family history they could possibly need. We know all they need to do is this blood test.

So how freaking hard is it to just order. the. damn. test?!


Anyways, so I gave L 2 puffs on her inhaler this morning. Then I took her to the babysitter’s house. I took the inhaler and the sat monitor over there. L has a meltdown. Complete and utter end of the world, how dare you leave me at the babysitter’s house, meltdown. Complete with purple lips. So I took her pulse ox.. 91! After a few minutes it got to 93, and that was it.

If we still had oxygen around, 93 would mean her tank was being turned on.

I am so, so freaking frustrated and irritated right now.

I’m not ready to start this fight again.

But… I will.



Look at your child, and tell your child that you can make any one physical wish happen for them (within reason). 

They want to go to Disneyworld? Done.

A ride in a helicopter? Done.

Meet Dora the Explorer? Done.

Watch the excitement fill their eyes.

Now, tell them that they can have that one special wish, that people have made it possible, because they have a terminal illness.

Inform them, in the nicest way possible, that the world has shown its generosity to them because they are expected to Not Grow Up. 

Watch their reactions. Watch them struggle to understand what you are saying. Watch them begin to comprehend that they are different. That something is Wrong.

Do this (In your head), and you will perhaps begin to have a taste of what parents of children with terminal illnesses go through.

Asking for Help- Part 2

Parent of a child with a Terminal Illness: Well, life just gave you a swift kick in the figurative ‘sack, didn’t it? When your child is diagnosed with a terminal illness, your life turns upside down in a heartbeat. You grieve – you go through the stages of grief again and again and again. It becomes a hole that you can’t climb out of because you know that one day you’re going to lose your child.

To quote Grimm’s Aunt Marie “2 days, 2 weeks, 2 months. Nobody knows.” All you know is that it is going to happen. That one day you will bury your child, when it should be your grown up child burying you when you’re old and gray.

Sucks syphilis-infected misshapen Liger balls, doesn’t it?

…and oh, my god, the stupid things people can say to you. “Well, no one ever really knows how much time they have..” Riiiiiiiiight. Because that’s comforting. Really, it is. (Rolling my eyes so much its hard to concentrate on the screen.) Its darned easy to say that when you can at least have a pretty good idea that you/your child can expect to go to prom, graduate high school, etc, barring some major life event. Whereas parents of children with a terminal illness? We can’t have those dreams.

Well, we can have them, but we know they’re probably just that – dreams.

…or, or… “Well, new discoveries and advancements are happening every day!” …YES! They are! In..not rare disease fields. In fields where tons of money are being thrown at things, yes, yes they are.  But for those of us who are unfortunate enough to not only have a child with a terminal illness, but to have a child with a RARE terminal illness?

Not only did life kick us in the ‘sack, but it also gave us a pile-drive into a steaming mound of horse crap.

I’d like to take the verbal pat-pats people give, give them rusted metal form, and shove them in all available orifices on that person. Yes, I know that was harsh. No, I don’t particularly care… because the people who have said that non-comforting crap to me should know me better than to say it to me.

I’m still searching for ways to cope with my daughter’s diagnosis, so I’m not sure I can give the best advice on this.  Every time I think I have a good handle on it, I enter a different stage of the grieving process.

So I guess..

My advice: Pictures. Take lots and lots of pictures. Take pictures of them while they’re sleeping, eating, crying, laughing, being silly, being jerkfaces… only stop taking pictures when its interfering with cuddle time. Even then, take a couple shots of the two of you cuddling.

Cut unnecessary people from your life before they have a chance to cut you from theirs. Because they will. People don’t know how to handle it when their friends are in situations like this, so the majority of them will just edge away without really even meaning to. So evaluate who you believe your friends really are, and go from there. You’re going to need strong people at your side. People who can be your strength even when you think you’re standing on your own. People who can take the storm.

They’re rare, but they do exist.

Find support groups. Find a good doctor. Find the courage to wake up every morning, so that you can treasure every second you have left with your child.

Love him/her like the next minute won’t come.  Never go to angry with your child. Always take the opportunity to be silly when you can.

I wear a bracelet that says “Live like she was dying”. It helps.

Single Parents:  You have the stresses of a working parent and a stay-at-home parent combined. You don’t have a significant other you can lean on to give you breaks. You don’t get to just be mom or dad to your kid. You have to be mom AND dad. You don’t have anyone to help you when the baby is sick, or when you’re sick.

I did the single parent thing for a little bit, and it was exhausting.

Single parents – you have my respect. You really do.  I wish you the best.

My advice: Refer to SAHP’s portion. I think it applies perfectly here too.  Also, and this really applies to every situation but: Make sure you have a good support system in place. Grandparents, aunts, uncles, good friends… anyone that is willing to help you out.

There’s definitely other situations that I could go into detail about, but those are the four biggest ones, I think.

In the end, what I’d want someone to take away from this is:

  1. There’s no shame in needing help.
  2. There’s no shame in asking for help.
  3. There’s no shame in using that help.
  4. Needing help doesn’t make you any less of an awesome parent.

I realized that I’d been doing a lot of blogging about G and the X-Linked Periventricular Heterotopia but I hadn’t talked much about L and the Idiopathic Pulmonary Arterial Hypertension.

Prepare to be educated.

Pulmonary – From Miriam-Webster: a : of, relating to, affecting, or occurring in the lungs<pulmonary tissue> <pulmonary edema>

Hypertension – From Miriam-Webster:  abnormally high blood pressure and especially arterial blood pressure

So, specifically, Pulmonary Hypertension is abnormally high blood pressure affecting the lungs (and heart).

It is not the blood pressure the nurse measures in the doctor’s office. It cannot be managed through ‘diet and exercise’. It is not cheap to treat – medication costs can easily top 100k a year.

It is a terminal illness. That means it will kill you. It is often misdiagnosed with asthma until its almost too late to do anything about it.

The Go-To website to educate yourself about Pulmonary Hypertension is . There’s all sorts of information on there from all parts of this life.

I will hit some highlights though.

– You will often see people say just PH or Pulmonary Hypertension, but please understand that it is a general term. There are many types of PH. What we deal with tends to be specifically Pulmonary Arterial Hypertension.

– Anyone can get it, though its more common in middle-aged women

-(Again) Its often misdiagnosed as asthma because it presents very similarly at first.

-There are three classifications – Idiopathic/Primary, Heritable/Familial, and Associated/Secondary .

Put simply – Idiopathic/Primary means unknown cause. They know that someone has it, but they don’t have an explanation as to why  they have it. 

– Heritable/Familial means that you got it because it runs in your family. There’s got to be a couple people diagnosed with it before its considered this.

– Associated/Secondary means that you have it because something else is wrong with you. Some examples are: CHDs, connective tissue diseases, HIV, etc.

Untreated, the lifespan in adults is generally three years from the time of development.

Untreated, the lifespan in children is generally 10 months from the time of development.

It. is. freaking. scary.

There are three main methods of treatment and often methods of treatment are combined. Remember, these are treatments, not cures. There IS no cure.

Oral – You take a pill (such as Tracleer), or an inhaled medicine such as Ventavis.

IV – You have a continuous flow of medication being pumped into your body 24 hours a day, 7 days a week. If your pump breaks or malfunctions for any reason, you have a limited amount of time to get it fixed before things can get really, really bad. Medications include: Flolan, Remodulin, and Veletri. Flolan and Veletri are basically the same medication, but Flolan has to be kept on ice, whereas Veletri is stable at room temp.

Subcutaneous – Remodulin (It can be administered both ways.)

Imagine having your 3 year old hooked up to a IV pump 24 hours a day.

Imagine having to insert a needle under your 5 year old’s skin, and make sure it stays there for weeks at a time.

Probably can’t imagine, can you? I hope not. I sincerely do.

There’s more that I probably should mention, and I have no doubt that this is hardly the last education post I’ll make on Pulmonary Hypertension. So now, for the personal.

L is a red-headed, freckle-faced little ball of energy. She very much meets each day with an enthusiasm I would love to have. Her perfect day begins and ends with cuddles.  She is amazing. (She’s also a demanding little brat, but that’s beside the point!) We were so scared with her, and at first treated her like a fragile little doll.

Not anymore.  Yes, L is sick. Yes, her disease is considered terminal. But, no, she is not fragile. She’s a stocky little munchkin with too much energy and not enough time in the day.

And yet every morning, if she doesn’t wake up before I do, I’m terrified. Because, you see, her condition could worsen dramatically in the blink of an eye. There is every possibility that if she’s not up before I am that she’s passed away during the night. And I didn’t know. I wasn’t there to try to save her because I was sleeping. Its hard enough to deal with normally, but putting her to bed when she has a cold or other respiratory thing going on just makes me sick to my stomach.

I’m in a group for Family of Children with Pulmonary Hypertension on Facebook. It is simultaneously the best and worst group that I’ve ever been in. Its the best because it is filled with people who know exactly what each other are going through. Its the worst because we share each other’s pain. We are there, virtually holding vigil, as one child after another gets sick, and fights for life. We are there, wishing we could be by another parents side, holding them, when they have to say goodbye to their child. We are there in heart and spirit even if we can’t be there physically.

And it hurts. Oh lord, does it hurt.  Even just thinking about it makes that hot, sick feeling wash over me. We’ve said goodbye to so many kids in the past year alone. I’m ashamed to say I’ve lost count of how many children we’ve lost since I joined the group.

We lost a little one who was doing well, then got sick with a cold… three days later she was gone. From a COLD!!! You cannot believe how ridiculous and scary that is. She died from complications from a flipping COLD! Three days. It took only three days for her to be gone forever.

We lost another little boy who began getting worse gradually. I believe from the start of his downturn until his passing was about 6 weeks. I could be a bit off though.

We lost Molly. Molly is the only one I will name because you can look her up easily because of the Flat Molly project. Click here to see the youtube compilation, and if you’re the crying sort – be warned. Have tissues nearby.

I could go on and on… we lost, we lost…we lost. We’re always losing. We do gain – but what we gain is another PHamily  member that we know we’ll eventually have to say goodbye to. We don’t want to gain any more members.

It gives you nightmares. It breaks your heart.

I’m lucky in the fact that I’ve surrounded myself with a wonderful group of online friends who do their best to understand what I’m going through (even though they can’t), to learn all they can about L’s disease, and promote awareness. They know who they are, and how much I love them.

In particular, though, I have to give special thanks to a great friend named Karlee. I’m naming her because I’m going to shamelessly plug her business in a moment. We were pregnant at the same time. We didn’t really know each other well during the pregnancy, but after L was born, Karlee sort of took up the flag and really was there for me when I needed someone to be there. She still is, to this day. She knows probably as much about pulmonary hypertension as I do. She is always trying to raise awareness on her business page. She makes things and donates them to people who could use them. She fundraises. You name it, she does it. She’s even made hats and scarves for L that were tailored to what she needed at that time.

So if you are looking for handmade goods of the knitted and crocheted variety, you really need to check out She makes pretty much everything you can think of, and she has reasonable prices too.

Here’s an example of one of her cuties.

Custom knit triceratops stuffie in camo - front view.

…and I’m written out. Writing about L’s disease just makes me mentally tired. More to come!