Posts Tagged ‘nicu’

Background: We knew that George had two POL-G mutations, and that they were different. We didn’t know what they were though.

FInally got a letter from genetics detailing, so..

Here’s your Q and A.

Q: How many times has the particular POL-G mutation that I and George have been seen before us?

Answer: 0.

I don’t think you can GET any more fucking rare than that. 0. ZERO. We are the first recorded cases of this particular mutation.

Now, K’s mutation is a familiar one. They have seen it before.

But my mutation + K’s mutation = the most severe case of POL-G manifestation SEEN. 


Chew on that one for a bit.


The Children’s Hospital’s Neonatology unit where we live is ranked 5th in the nation. So, basically, one can think that they are pretty darned good. With that being said, I am >thisclose< to filing a complaint against them because I do not believe, in my heart, that G has received consistently competent care from them.

A recap…

1. Seizures – I said from week one that  I thought she was having seizures. I pushed, and pushed, and pushed on this. They did a head ultrasound – said nothing was abnormal.They did a sleep study, and from the PARTIAL EEG done during the sleep study, said that there was no sign of seizure activity.  At 6 weeks old, G started having ‘classic’ seizures (Ie: rhythmic spasming).

They later outright said that you need a full EEG to detect seizure activity… this was after reassuring me that the partial EEG would have picked stuff up.

2. G demonstrated an inability to tolerate formula early on. They tried her on similac and isomil. During rounds, while I was there, they were talking about G’s weight gain, and the doctor ordered her to be put on Sim powder (aka Similac Formula). Between the doctor and all the nurses that do rounds with the doctors, -I- was the one who had to speak up and remind them that G had already shown she could not handle those formulas, and that we’d already tried them. I was the one who directed them towards the alimentum.

3. I recently went in and during the course of my normal conversation with the nurse was told that they were no longer going to do blood gasses on G. I freaked out. “What do you mean? This is stupid. This is effin’ stupid. You’re nuts. I will FIGHT you on this. OF COURSE you’re going to do blood gasses on her. Have you guys went around the freaking bend?” … The nurse asks me if I want to talk to the NP. I said yes, of course. So she goes to get the NP, then comes back a minute later apologizing. She said that she’d been given the wrong information from the first shift nurse and that the order wasn’t in the system yet but they were going to continue to do blood gasses. 

It scares me to think what might have happened if I hadn’t been there to raise a fuss and bring attention to the fact that something wasn’t right.

4. I recently asked one of her nurses for her CO2 levels, in writing, so that I could have a concrete reference for how they were doing. The nurse proceeded to write down all of her gas numbers, without labeling them, and then pointed out which ones her CO2 numbers were. She pointed out the WRONG ones. She said they were 32, 31, 30. They were actually 54, 46, 46. BIG, HUGE difference there. 

5. I had been informed by Dr. Snyder that our plan of attack with G was that if we got a bad blood gas from her that we would wait one hour, and take another blood gas. Then if that one was still bad, we would act on it and put her back on Si-pap. I was also told by a nurse that taking a blood gas while an infant is worked up is not a good thing to do because her CO2 levels are naturally going to be elevated at that particular time…

They took a blood gas while G was worked up. They immediately put her on Si-Pap. They took another blood gas an hour later after putting her on Si-Pap and her levels had dropped dramatically. … G’s CO2 levels, if naturally elevated, do NOT come down that quickly.

6. ENT consulted on G yesterday. I was told at that time that they thought we should proceed with tracheotomy because G didn’t have issues maintaining her sats. Her issues were with her CO2 levels only.  … On cannula, with low CO2 levels (for George at least), she needed 3 litres at 45 percent oxygen to maintain her sats. G also demonstrated an issue with maintaining her sats BEFORE she got rhinovirus, BEFORE her CO2 levels started going out of control. So for this doctor, who has never seen G before, to look me in the eye and tell me that she doesn’t have problem maintaining her sats?…….

Prior to rhinovirus, G required 0.2 litres of oxygen at just above 21 percent to maintain sats. After Rhinovirus, G’s CO2 levels are hard to control, and on cannula she needs at least 3 litres at 45 percent. 

Halfway through this post, the Care Coordinator called me. I told her exactly what I was feeling. I stated that if I could not even trust that I was being given the right numbers in regards to G’s CO2 levels, how could I possibly expect to sit down with the doctors and discuss G’s prognosis and quality of life? They can’t even give me the right freaking numbers from a report!

I pointed out several recent issues that I’ve had. 

She agreed that I had some very valid points and is organizing a care conference immediately (so by Thursday/Friday) so that we can get everything taken care of and my concerns addressed.

I told her that I was going to get G’s records and send them to Cleveland Clinic. She was like “Oh well lets do this care conference before you do anything drastic!” … We’re doing the care conference. I’m still sending G’s records to the Cleveland Clinic.

I told her that I felt like I needed to be at the hospital 24/7 at this point just to make sure that my child was receiving appropriate care. That I could no longer trust the neonatologists (have no issue with the pulmonology or PH specialists by the way) or nurses to take care of G.  That while I thought they did a fantastic job taking care of L, they have absolutely and completely dropped the ball on multiple occasions with G.

So basically I just told Children’s Hospital that they were doing a shitty job with my daughter, and now I get to sit back and get buried in the fallout. Yay. 

I’m tired. I’m so freaking tired. I feel like there’s nothing or no one that I can depend upon. That I can truly lean on. My boyfriend just doesn’t know how to handle the situation.  I have good friends who try, but they live hundreds of miles away. That all I can do is do all of this myself. And I’ve already broken once already under the strain. Luckily I managed to put the pieces back together and keep plodding on…

But what happens when I break again? Will I be able to put myself together one more time?

Will I be able to keep fighting for G, and for L? or will I end up in a padded room or dead?

….and how was YOUR weekend? LOL!

That’s what the geneticist said to us yesterday. She’d seen a case of two rare diseases striking one family (same generation) twice in thirty years. 

What is a rare disease? Click here for further info. 

“A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.” 

So, basically, my family won, in an entirely unacceptable way, the freaking genetic lottery. 

Because, you see, not only do G and L have X-linked Periventricular Nodular Heterotopia AND Pulmonary Arterial Hypertension… but there’s more… at least for G.

You see, apparently Neurology saw something strange when they were looking at her a while back, and when Genetics sent off G’s blood to look for the FLNA (which is pronounced Flyn A, by the way) issue, Neurology also asked that they check George for POLG-related issues.

Now, I linked you above, so I’m not going to go into great detail, but basically…

POLG affects mitochondria. Mitochondria are in all our cells. They are, for lack of a better word, the ‘power plants’ of our cells. They give them the energy to replicate and do what they need to do. In some cases, the mitochondria aren’t able to replicate the way that they should and that produces issues.

It produces issues of the “Oh my god, my baby!” variety, which is pretty much what I was going through yesterday. You know that saying “The straw that broke the camel’s back”? Well, it wasn’t just the final straw yesterday. It was a whole freaking load of bricks on top of that straw.

Now, here’s the weird thing… They can’t state with 100 percent certainty that G has this issue, and here’s why… (and its in layman terms since I don’t even know the technical terms).

You have 2 strands of DNA (what you hear referred to as a double helix). You get some goodies from your momma and some goodies from your daddy in your DNA. Now, sometimes mutations occur for various reasons, and lots of people can have a mutation, but be basically unaffected by it because the bad mutation is balanced out by other stuffages. But not always.

Imagine your DNA like a ladder (a twisty, super-microscopic ladder, but whatever..).




Each little rung has its own job, and that job is agreed upon by both sides of the ladder. “Yep, this is our job and what we’re going to do.” And generally if they can’t agree, then the whole rung goes to hell and you’re looking at a genetic version of

[‘Eh, eff you—-No, dude, eff YOU!]

While the rest of your DNA is like “Guys…GUYS! SETTLE DOWN!”

But…not always.

Sometimes what you get is something like this..

[A—-Oh, balls!]




…And that’s where issues can happen. Because when geneticists look at your DNA, and they see a bad rung, its generally easier to say “okay, s/he has this…” but when they look and some of the rungs are half’n’half… they can’t say that you or your child have this disease with absolute certainty. Plus, the way you ‘present’ (or show symptoms) might be completely weird because the whole rung isn’t bad. You’ve just got rebel half-rungs.

I guess you could call them Rebels without a Cause? (Don’t hurt me, KbyK! You know I had to make the pun!) I think the technical name for these Rebels are Recessive Genes, but don’t quote me on that.

So… basically… George has some Rebels. And these Rebels are signs of POLG-issues, BUT because she doesn’t have a complete bad rung, they can’t be 100 percent sure. But she has markers of POLG showing in her pee and stuff, so she probably does have it.

Not to mention that a lot of the signs of POLG are also signs of X-linked PVNH…so… There’s that. 

So K and I have to have our blood drawn and sent to the genetics lab. (Hellllllooooooo medical bills!) They’re going to look at us to see if we have any hidden Rebels/Recessive(?) that mighta met up in a shady DNA bar and made a little fudger that screwed G up.

I admit it… I don’t expect G to come home anymore.

Oh…and the FLNA test.. Well, its a two-parter. First they look for sequencing. Her *sequencing* was normal, indicating she might not have the FLNA mutation. But now they’ve got to look for deletions, and that will take another couple weeks.

So we’re doing yet even more ‘wait and see’. Joy. /eyeroll








This is the first time I’ve been to the point where I felt like I could write anything.

I had a complete breakdown this weekend. Crying at the drop of a hat. Randomly having to grab pillows to scream into. Pounding my fists against the couch. Cursing the universe. You name it.

I even considered cutting as a way to distract myself from the pain. 

G has a new doctor this week, who has never seen her before. He doesn’t think we’re looking ‘under the right rocks’ in regards to what is causing her problems. He isn’t denying that she might have the x-linked PVNH but doesn’t think its the thing we should be pointing at, as we can’t find any evidence that links hypoventilation to it. I didn’t think there was anything linking blindness or deafness to it either but it turns out that several kids with PVNH have issues with their sight, so I’m definitely going to pass that on to him.

The conversation devastated me, because at the end of it we discussed evaluating G’s prognosis and quality of life. Aka: We took the first steps toward having to make THAT decision.

Its one that, depending on what the ENT doctors find out next week, we may end up having to make relatively soon.

You cannot believe how heartbreaking the mere thought is. It brought me to my knees, wiped the ground out from underneath of me, and crushed my soul. Just thinking about it.

But… once I got done crying and screaming, I realized I had some issues with stuff that the doctor said.

1. He said Ghad practically no muscle mass for as chunky as she is.

            – I agree. BUT I also realize that G has had basically no opportunities to develop normal muscles. We have never even been able to do tummy time with her, and over the last 5 weeks, we haven’t even been able to do skin to skin/kangaroo, which is a modified form of tummy time. Plus G is restrained when she’s on the vent, and sedated half the time because of her medications to control seizures. I don’t think its fair to assume that its because of some progressive illness when I can point at obvious reasons why her muscles aren’t very well developed.

2. Her reflexes are hard to illicit –

                 I agree. SOMETIMES. However, if you tickle her, you become very aware that she has reflexes. She squirms and wiggles every time. I would also again point at the ‘if she wasn’t drugged to the gills half the damn time, maybe she’d react quicker’. She does *have* reflexes, but its just hard to trigger them sometimes.

3. She has a horrible sucking reflex.

                 I disagree. She *did* have a horrible sucking reflex. She couldn’t even manage a good suck on her binkie. That reflex did develop last month though. She was able to get quite a strong suck going on her bink. With that being said in between the vent and the Sipap and CPAP she’s probably backslid but if you can’t get anything into your mouth to suck on, of course you’re going to lose some skills. 

He’s coming in to this having never seen G before. Those of us who HAVE seen her constantly have seen improvements.


Yes, her breathing is getting worse. I will not deny that.

Other stuff though? G just needs a chance to develop those skills instead of being stuck in a hospital bed all the time. If she can’t be interacted with normally, how do you expect her to develop normal reactions??

I want her tested for laryngomalacia when the ENT doctors look at her. I’m getting this sort of ‘pat pat’ reaction from them in response. They tell me that if she had laryngomalacia, it would be getting better. Well, funny, but all research i do, including questions answered directly on the Childrens Hospital Websites say that Laryngomalacia gets WORSE before it gets better. That it doesn’t really get outgrown until 18-22 months. That surgery IS sometimes required.

And laryngomalacia IS linked to hypoventilation and increased CO2 levels.

I know what my answer will be if I have to make that decision. I’m absolutely sure its the right one if I do get in that position.

However…I will NOT even consider that until I am satisfied that she has been given the most thorough evaluation and that I have NO doubts of that. I’m not giving up on her yet.

As long as I can logically argue against things that the doctor has said, then she has a chance.

As long as she has a chance, I will not stop fighting for her.

Plus, randomly it seems like her CO2 levels dropped a little bit yesterday on their own. I don’t know if that was a fluke or if it was even an arterial bloodgas measurement though, so i’m not too hopeful right now.




Yesterday was a beautiful day. Bright, sunny, perfect for getting out and enjoying.

It was also a horrible day because of that. Because it was so beautiful, because I was out in it. Because there was no G there. She’s trapped inside a room, with only a window to bring sunlight in. She’s on a ventilator so we can’t even pick her up and pace around the room with her. She’s in isolation so she can’t even see my face when I smile at her. 

It was technically a beautiful day, but without her with us, it might as well have been storming and freezing.

I just want to bring my baby home. I don’t know why that’s asking so much.

I want to show her the sunshine, and the leaves on the trees. I want to point out pretty flowers, and feel her snuggled up against me in one of her carriers. I want to see her smile, and hear her laugh as I tease her with one of her toys.


Instead I see her like this. In a room with the shades pulled, a tube down her throat, and a few toys at one end of her cot that she can’t even interact with because her arms are restrained while she’s on the vent.

The only thing I can do is stroke her head, or her legs, lay a hand gently on her chest, and talk to her. Talk to her in hopes that she can hear me, even though she’s failed her hearing test at above the level of conversation. I still talk to her.

I just wish I could know that she knew that I loved her. That I am so sorry for bringing her into this world to live like she’s living. That I’d take her place in a heartbeat if I could.

I just want my baby in my arms, at home, being loved. I wish that didn’t seem so unattainable.

ImageA picture of G. Just because.

I’m finally to the point where I’m not feeling absolutely miserable from the mastitis, so I went to the hospital today to see G. When I walked in, they were doing an Echo on her. Naturally I was kind of curious, because no one had mentioned anything to me about one being done. Her nurse told me it was just to check to see if the hole in her heart (which was either an ASD or a PFO) had closed. So I just shrugged it off. Literally didn’t think anything about it.

Just did my brief-visit business: 1) Snap a pic of G. 2.) Do a short video. 3.) Give the nurse my milk 4.) Catch up on any changes that might have been made 5.) Give G a kiss and/or a cuddle.

Her CO2 levels have decreased a small bit, by the way.

Anyways, so I trade off kids in the hallway (the grandparents had L – and they were heading in to visit G), and we make a brief detour by the pharmacy to try for the umpteenth time to get L’s diuretic. Still no luck. Grrr. She’s not yet completely out, so I place a call to cardiology requesting the refill even though the pharmacy was supposed to have done it two days ago.

Call placed, we make a stop by dairy queen (side note: My 4 year old is totally feeling my boobs up right now. She’s way too fascinated with this whole pumping thing.) and then go home to hang out. I’m in the middle of a pumping session when the phone rings and its the hospital.

Ah hell. What now?

Its a cardiologist. He says that he reviewed the echo done today, and G does have a moderate-sized ASD, but that’s a good thing at the moment, because its keeping the pressures in her heart down.

If you’ve read the posts about L, you know what this means.

I now officially have two kids with Pulmonary Hypertension.


The PH speciaist who follows L will be checking G out next week.

Oh, and right in the middle of writing this, I got a call from the hospital. They’re placing G back on the ventilator to bring her CO2 levels down some more and hopefully help her heart.

I don’t even know where to begin on how much I’m ready to scream right now.

It was a good day for G. She was quiet and alert for a good bit. So I tried something. When I got a result, I tried it again. And again. And again. And I kept getting the SAME result EVERY time.

So then I called the nurse in. I said “Do you want to see something cool?” She said yes.

So I did it again. And again. And again. And I got the SAME result EVERY time.

Then the physical therapist came in. I said “Do you want to see something cool?” She said yes.

So I did it again. And again. And again. And I got the SAME result EVERY time.

The nurse practically squealed and excitedly stroked G’s hair and cooed over her. The therapists eyes got as big as silver dollars and she just said  “THAT. IS. AWESOME!!”

Wanna know what I did? Bet ya do.

I took this little yellow lion that has chewies for paws (thanks Erica!), and I waved it in front of G’s face. I didn’t touch her with it. I didn’t make any sound as I was doing it. I just waved it slowly in front of her partially open eyes.

And every time I did it, G would open her eyes wide. Every. single. time. I would slowly wave the lion, or bring it in towards her face, and she would open her eyes real wide, like “What IS that?”

I tried it with other toys, and didn’t quite get the same result. One little lady bug toy would get G to open her eyes wider for a second, but that was it. The lion, however, got full on “Oh My God! WTF?!” eyes.

The nurse that saw G’s reaction? She’s the one who has always noted G as ‘unresponsive to environment’. 

The therapist that saw G’s reaction? She’s the one who told my boyfriend she thought that the idea that G could see was probably just wishful thinking.

So, anyways, the therapist starts going through the motions with G… and at one point G arches back, with her head in my direction. I immediately leaned in real close to her…and we stared at each other. For at least 6 seconds. We stared at each other. The therapist just stopped touching her while this was going on. After it was over, she told me “I think she really saw you. At least briefly. She stayed very still in that position longer than she should have if she wasn’t seeing anything.”

And then they continued therapy.

So… there’s that.

We talked about now that G’s doing better, what should we be doing with her? Obviously cuddles are of the utmost importance, but… The way she put it was this “If you’re here for 10 minutes, then spend it all cuddling her. But if you’re here for 15… do 10 minutes of cuddles, 5 minutes of playful interaction.”

By the way, she said G had been pulling one over on her. That when she’d seen her at first it was post G-tube, and then with the Rhinovirus.. G doesn’t flipflop between hypotonic and hypertonic. G is hypotonic. That is her primary muscle problem. Except when she’s angry. Then she’s hypertonic.

G-steps, man!