Tuesday scare

Pierce has been known to test my heart's function several times - thank goodness my heart has been able to withstand it all ;) We've dealt with things from him turning blue/stopping breathing/needing Heimlich (from aspirating) to scary breath holding episodes (from injury not out of anger/discontent). Tuesday was the day he decided to add unresponsiveness to the list.

Tuesday morning did not start like any other for Pierce. If you know that sweet little blonde haired boy of mine then you know that he goes a mile a minute from the moment he wakes up. He defines energy fairly well. You would also know that he is very persistent in getting what he wants, when he wants - he gets it from his mama. He also has the SAME routine every morning... as soon as we open his door, bright big smile followed by a hello then a "Milk, mama?" --- I give him a cup of milk, he crawls into "his spot" (also known as George's spot) on the couch, I put on the toddler equivalence to taking LSD (also known as Yo Gabba Gabba) and he becomes enthralled while drinking milk, curled up with his blankie........ So, Tuesday morning..... he came to us asking for milk - George told him to wait a minute. He asked me, I said to wait a minute, too. He puts his head down on my stomach and falls asleep for a solid 30 minutes. I needed to get up to get things ready for Brice so I placed him on the floor next to where I was. He woke up and asked for milk. I fulfilled his request and he laid on the floor drinking his milk... and continued to lay there... 7:30 rolls around and he is still there... George gave me a look in passing like something's not right because Pierce had his back to the tv... he was just so listless and so very lethargic. I took his temperature - a nice 98.5*. George left for work. 8:10am... Pierce is STILL in the same spot on the floor. I had to sit him up to get him dressed and I laid him back down. 8:35am... time to leave to take Brice to school... Pierce is still in the same spot/position. I pick him up and take him to the car... we head off to school.

At school, one of Brice's teachers asked if Pierce was okay. She commented on how quiet he was and how pale he was. I gave her a brief run down of our morning and how odd it was but that he was basically asymptomatic (aside from being lethargic and listless). It's now 9:30... I stop to get him a smoothie... he actually perks up for a solid 45 minutes! We leave one store to head to another one that is less than a minute drive from the first... he and I are talking and mid-word, I hear his voice drift off. I park, turn around and he is completely out. I take his vitals - resp rate in the mid to high 40s and heart rate is mid 130s. I notice that his arms, hands, legs, feet and torso were twitching - not convulsing - but twitching.... nothing alarming because he does this ,occasionally, when he is falling asleep - usually lasts about 5 minutes. 10 minutes pass and he is still twitching... I call our immunologist to get her opinion - she's in clinic so I leave a message.... another 5ish minutes pass and he is still twitching with the same vitals. I call our pediatrician - she doesn't have any sick visits but they suggest I take him into the ER. It hits me - my maternal instinct is telling me something is just not right but what? What is it? So I call my mom trying to hold back tears because I am legitimately worried. She says to go straight to Chnola. I call George, he suggests attempting to wake Pierce up... and then my phone starts to die.

I go home to grab my cell charger. While there I try to wake him up... except, that I can't. Several minutes pass by - I am shaking his leg and practically shouting his name... I start slapping his other foot, while shaking the opposite leg and saying his name very loudly... his head pops up, his eyes open for about 2 seconds, close and his head falls back to his chest. I decide it's time to head to the ER. I made another attempt, at a red light, to wake him up = unsuccessful... another attempt and he opened his eyes for a second... another attempt = unsuccessful. We get to the ER, I get him out of the car, walk towards the hospital, talking to him... he begins to become more alert and responsive. I wait outside for my mom to meet me - question whether or not I should bring him in because he seems better.... he pees all over my leg. My mom comments on how pale, clammy and cold that he is - she suggests that maybe it was a low blood glucose episode. She is diabetic so gold star for her on that brainstorm. We go to the car to change him and decide to head home for now to continue monitoring him (<-- any time I can bypass an ER trip, I 110% will). I gave him 5oz of milk on the way home - oh and Nana shared some gummy candy with him, too!

Once we get home, our immunologist calls. I brief her on our morning. She thinks the low glucose idea is a good thought. She still wants us to go in to the ER. She doesn't think that it is an infection but she wants someone to physically lay eyes on him and run some labwork. We (reluctantly) head back to the ER. Everything was okay until the triage nurse made my blood boil. Seriously, why ask a question if you aren't going to wait for an answer? "Why do you think it could be a low glucose episode" - "Well my mom is diabetic, she mentioned it and I ran it by our immunologist who thoug..." - "Does he have any health issues" - "yes, he has a mitochondrial disorder and is immunodeficient - his specific diagnosis is IgG3..." - "Why do they think he has a mitochondrial issue" - "well he had a muscle biopsy in November..." - "yeah, but what are his symptoms" - "what do you mean - then, now... I need..." - "what medications is he taking" - "leucovorin, levocarnitine, and OTC supplements" - "oh my god, he is just the cutest little thing - hey sweetie" - "so I know that he looks good but Dr. Pratt wanted us to come in to get him checked out, she wanted..." - "have a seat in the waiting room" - UGHHHHHHHHHHHHHHHHHHHHH, I was pretty pissed. I notice these two teenaged girls sitting across from us (likely 14-16 years old) - they were mouthing off to someone... I realize it's an NOPD. He tells them "I will not take those handcuffs off of you because you're not going to hit me and while you're in my custody, I am in charge. If a doctor needs to treat you, he will do it with you handcuffed." @#$#^$#^WHAT? Sure enough, they were both in handcuffs. I whisper to my mom that we need to find a new section in the room to sit in. As we pass by one of the girls GROWLS at Pierce (because he isn't terrified enough of Chnola, right?!). I stopped dead in my tracks with my head turning back to look at her with whiplash type intensity. I very bluntly said "Really?" to which she flippantly replied "yeahhh, really" (like whatcha gonna do about). I mustered up every bit of of self control I could find within my body and told her to grow up while walking away to them laughing at us. Sigh...

We waited about 30 minutes before we were called into the back. I asked our nurse if she wanted to actually listen to our events and his medical history and she did :) A doctor came in 10 minutes later and I told everything to her as well. She wasn't concerned about his glucose levels because we've never had an issue with those in the past. She gave him a physical, everything looked good. She ordered labs only because he was a mito kid. Everything looked good except for his WBC count being high. She said things would probably get worse before they got better and that he was probably contagious and that she expected it to result in a stomach virus. I emailed our immunologist asking her to take a look once she got in to the clinic in the morning. She emailed me back yesterday with the following:

I agree his labs support some sort of infection, likely viral but no way to know by the basic labs. His cultures are still pending so I will send the labs once they are all back....just remind me! How is he doing today? Has genetics ever said that he might decompensate quickly because of his mitochondrial disorder? wondering if that has anything to do with it. Glad you went to the ER so we have some support of a cause. Oh and his glucose was fine.

Talk soon

Yesterday, he wasn't himself energy wise but he also didn't have any new symptoms. And today, he is pretty much back to normal, no new symptoms to report either. We are still waiting back the results on his blood cultures although I anticipate those to be negative since he seems okay.


But I have to admit that I am REALLY confused about Tuesday morning. I am also a bit concerned/wanting to know more about the idea of him quickly decompensating due to his mitochondrial disorder. I placed a phone call on Tuesday to our geneticist... sent him an email yesterday and as of now, still no response. 


I wish I had answers. I wish I was smart enough to be able to answer my own questions. Tuesday morning scared me to my core - and for me it's a tad more frustrating because I have no answer as to WHY his body reacted that way. So really, I guess that's it... have a Happy Thursday.

A tiny glimpse...

First, you can tell it's been awhile since I blogged... I had no clue that Blogger made a bajillion changes to it's format... oh well, bare with me if I screw anything up.

So I owe a few dozen updates to those who actually still come here to read... but today I am exhausted. I did want to share this with you. I contacted the Beads of Courage program to see if the boys were eligible. CHNOLA only offers BOC to oncology patients but we are eligible for the Beads From A Distance program. I am really excited because I feel as though this will give the boys something more tangible to express all that they've been through... and it's quite a bit for their 2 and 3.5 years of existence. I had a tally form with various categories and sub-categories to complete. They will each receive a certain bead for each thing they've been through... here is what I was able to tally for each of them:

Pierce

• 1 inpatient admit
• 8 nights in the hospital
• 1 NG tube
• 21 x-rays
• 4 times of being NPO
• 2 IV antibiotics
• 1 time on isolation
• 8 IVs
• 24 pokes for bloodwork
• 2 echocardiograms
• 2 EKGs
• 5 swallow studies
• 2 upper GI series
• 4 ER visits
• 1 ambulance ride
• 1 muscle biopsy
• 2 brain MRIs
• 1 ABR
• 2 brain CTs
• 1 upper EGD
• 1 lower EGD
• 1 sleep study
• 1 EEG
• 1 upper airway fluoroscopy
• 2 cardiology visits
• 10 GI visits
• 4 opthamology visits
• 9 genetics visits
• 7 ENT visits
• 4 neurology visits
• 6 orthopedic visits
• 5 immunology visits
• 4 pulmonology visits
• 2 IVIG infusions (well 1 is this coming Wednesday)
• 1 surgery
• 1 trip to AL for ortho consult
• 17 trips to Baton Rouge (1 hour away from NOLA)
• approximately 94 therapy sessions (speech and physical)

Brice

•  5 IVIG infusions (1 this coming Wednesday)
• 12 IVs
• 13 ENT visits
• 6 immunology visits
• 10 GI visits
• 3 pediatric surgeon visits
• 1 pulmonology visit
• 1 genetics visit
• 7 x-rays
• 3 hearing tests
• 15 pokes for bloodwork
• 3 surgeries
• 7 ER trips
• 2 inpatient admits
• 5 nights in the hospital
• 2 upper EGD
• 2 lower EGD
• 1 bronchoscopy
• 1 laryngoscopy
• 1 nasal endoscopy
• 1 NG tube
• 1 brain MRI
• 1 ophthalmology visit
• 2 urology visits
• 3 ultrasounds (1 abdominal, 2 renal)
• 2 foley catheters
• 2 upper GI series
• 1 swallow study
• 1 nuclear gastric study
• 21 trips to BR
• approximately 88 Speech Therapy sessions

After seeing all of this, it made me realize why the last 3.5 years have flown by... the sad thing is that this doesn't even encompass what seems like the hundreds of times we've been in the pediatrician's office for sick visits, well visits and childhood immunizations.

That's it for today --- if you have the ability, I really encourage (and would more than appreciate) you to make a donation the Beads of Courage program. You can do so here!

A post coming tomorrow about our scary day with Pierce yesterday... off to go release some stress while working out :)

Updates

I clearly suck at blogging - I always want to write something. And I write these elaborate posts in my head but I never have time to type them out...

Brice is doing very well with his IVIG. His first infusion was January 25, 2012. Of course, he presented with a left ear infection that morning but overall, the infusion went very smoothly the day of. The following day, wasn't so great. He went to school and I was called around 10:45am because he was crying and had a headache... a migraine. My poor baby screamed the entire 10 minute drive home... then for the next 25 minutes... in addition to wretching (because of his Nissen he can't vomit). I gave him a dose of Motrin, turned all the lights out in the living room, closed the blinds and he passed out. He woke up feeling much better after the Motrin and his nap.

His second infusion was on February 22, 2012. Attempting to do his IV was a VERY traumatic event for him, myself and the nurses involved. I laid on the bed next to him with my legs wrapped around his in a death grip form (because the kid is strong) and each of my arms held one of his arms. From time-to-time I had to pin his chest down with my own. Nurse #1 held his head... Nurse #2 held/stabilized his arm... Nurse #3 did his IV. All the while Brice is screaming at the top of his little lungs - he would also insert the following phrases between long screams: "Get me out of here," "I want to leave this place," "I want to go home. I don't want an IB (because he can't say his V's)" etc. It was TRAUMATIC to say the least. I think it took around 20ish minutes and he and I were both drenched in sweat. His infusion went smoothly and no migraine the following day!

Pierce is fully potty trained! I don't remember the exact date (but I will reference FB for the date for his baby book) - but some time in early-mid January! We used the same method we used with Brice - which really wasn't a method - just child-led but once we said goodbye to diapers, that was it - no diapers or pull-ups while sleeping, etc. And it worked! And while it feels liberating to be freed from giving a ton of money over to Pampers each month, I also miss the days of just changing a diaper. Seriously, y'all... having to get up 5 times during dinner because the kid needs to potty and can't wait is it a bit tiring ;) and I am a germophobic, so the whole having to be in a public restroom so frequently gives me the heebie jeebies. And it's bittersweet - my baby isn't really a baby any more...

Brice had a very difficult time transitioning back to school post-Nissen. I think it took about 6-8 times (remember, he only goes on Tues & Thur) before he wasn't freaking out every time I left his classroom door. But he appears to have finally re-adjusted.

Brice no longer sees GI!! His Nissen was one of the BEST decisions we've made medically for him. He is no longer in pain. He is HAPPY! He no longer takes Nexium. He is eating foods that he had previously given up. Thank goodness for that surgery!!

Pierce had a genetics follow-up yesterday with our main genetics doc. He is VERY pleased with Pierce's progress developmentally. Pierce is still a peanut - weighing in at 11.5kg and 85.4cm tall. I asked if it was possible for Brice to have a very mild mito disorder as well given his health history (minus the gross motor developmental delay) and since they both are immunodeficient. We spoke more in depth about some of the ways to acquire genetically linked disorders/diseases. 1) Recessive - both George and I are carriers of the gene but we don't have the disorder but we passed it along to our children - he went into more depth mosaic (not effecting every cell) etc. 2) X-linked - maternally linked -- women are XX so they are not affected and men are XY so they are affected or 3) abnormal mitochondrial DNA - in what's considered normal, biologically-speaking, a person has 46 chromosomes (23 from mom and 23 from dad). But we all have "extra DNA," so to speak, inherited directly from the mother - called mitochondrial DNA. Both sperm and ovum have mitochondrial DNA, but the ova destroys the mito DNA in the sperm and only the maternal mito DNA is passed along to offspring.

Pierce had more bloodwork yesterday to look at his mitochondrial DNA. There are still SO many unknowns with mitochondrial disorders (just like the immunology field, both are rapidly expanding every day - plus they are soo much more under-funded than other fields like cardiology, etc). The mito DNA bloodwork will look at 1200 different things along with 12 (or is it 15?) transverse RNA sequences.... it could come back with various abnormalities or low levels of this, that or the other... but they don't know what it all means. They only thing that they are sure of are 37 different pathogenic mutations. If he has one of those 37, we will get a confirmed mito diagnosis (if you remember, he has been clinically diagnosed because of his healthy history, symptoms, abnormal organic acids/ketosis/acidosis and abnormal yet inconclusive muscle biopsy). If he was one of those 37, I will be tested next. If I am found to have any low levels, then they likely won't even have to test Brice because he will have it too - as a matter of fact, any of my offspring would be. The difference in asymptomatic vs mildly to highly symptomatic happens while the zygote is forming. It all depends on how many abnormal mitochondrion are transferred during that process. I know deep stuff - and I may have messed a bit up in translation but that's what I took in yesterday :)

Pierce had an immunology follow-up this morning. Because Pierce and Brice are following the same exact patterns immunologically, we are just putting off the inevitable with waiting on IVIG. So the decision was made today to start him on IVIG. They have to begin his paperwork and get insurance approval, which as of stated before can be a lengthy process. The game plan is for Pierce's 1st cycle to take place with Brice's 4th cycle (in April). Thankfully (maybe/maybe not) I will be able to take the boys on the same day for their infusions. The only thing that makes a bit nervous is trying to manage both while getting their IVs. I know they won't be done simultaneously but feeling like I can comfort both of them is a concern to me. We also briefly discussed starting Brice on home infusions this coming summer. He needs to do at least 2 more infusions in the hospital. If we switched to home infusions, it would be done sub-q. Home health would come in and teach us how to administer everything. We would do his infusions once a week and they would take about 2 hours to infuse. George is a bit nervous with this option because we won't be in the hospital if something were to go wrong. If it doesn't work out, then we will just go back to monthly admits for infusions.

Pierce had a sleep study in January. He has mild sleep apnea. They've recommended airway assessment (to check for an anatomical obstruction but our primary ENT wants to hold off on a sleep endoscopy until after our next sleep study (in June). He also stated that because of the underlying mitochondrial disorder, he likely won't do a T&A. He thinks that a T&A would be an unnecessary surgery because his apnea could be related to a muscle tone issue not an obstruction. If Pierce's apnea index score gets worse, the ENT wants to a CPAP trial. I mentioned all of this to our geneticist yesterday and he's not really on board with the idea of CPAP without having done a T&A first. He thinks a T&A would he helpful so that Pierce has more room, so to speak, for air to travel. He would like for us to get a second opinion - we are working on scheduling one.

Whew... I think that's it... one of these day, maybe, I will try to blog about more exciting, non-medical stuff...

one more kiss!

I need to start blogging on a more consistent basis... not for you (sorry, just being honest) but for me. I initially wanted this blog to be a place for me to remember those moments... the ones that I want to remember for forever. It's turned into more of a place for me to document my children's health issues (which has come in handy more times than not) and from time-to-time, I get to document about those moments. My hope is to start blogging about anything and everything - whether it's about Brice's first day in Pre-K3 (coming SO soon!! September 6th to be exact!), Pierce CONSTANTLY wanting to "pee-pee", a picture of my boy's artistic renderings... on my walls, their medical issues or just my thoughts - I need to challenge myself to my blogging at least three times a week - hold me to it, people, hold me to it!

Today is my mom's birthday! We are celebrating with dinner and a cake here at our home this evening. Both the boys called her this morning to wish her a "Happy Birthday" but she didn't answer! So what did this momma do... pulled out the (cell-phone) camera of course and posted videos to Facebook (seriously, THANK YOU technology!).

Aren't they cute?

And my latest update on the boys... it looks like we're heading in the direction of IVIG therapy for both of them. Pierce has been living on antibiotics for weeks now (he did 12 days of Omnicef and is taking 3 weeks of Augmentin). Brice is about to start antibiotics as well for a sinus infection.

This is what our daily meds list looks like (minus whatever antibiotic Brice is about to start...)

They are both having blood work on Monday, August 2, to check their titer levels (post Pneumovax23) and to check their memory B cell functioning. The latter test is experimental but it can indicate if they have difficulty making cells necessary to recognize and fight off a microbe on repeat exposure. If Pierce's titers come back low, that will be enough to justify (to insurance - they need certain labs to approve IVIG since it is extremely costly) starting his IVIG course for 18-24 months. If Brice's titers come back low OR within an acceptable range but his memory B cell function is low, he will begin IVIG as well.

At our hospital, IVIG therapy is administered once a month, on Wednesdays only. It is a short stay admission to the hospital (typically about a half day so long as the infusion is uneventful). An IV will be placed and the infusion typically takes a couple of hours. Every 6 months, they will have blood work to look at their levels - IgG but specifically IgM and IgA. If at any point during treatment, their IgM or IgA level starts to decline they will be given the definitive diagnosis of CVID (Common Variable ImmunoDeficiency) or hypogammaglobulinemia. If that doesn't happen, once the course of IVIG is completed, they will have blood work 6 months after to check their levels. If everything looks good, they will still be followed because they are technically not out of the woods. At any point, their levels could drop off which would mean true CVID (as opposed to transient of childhood). If they do have CVID, they will get IVIG for the balance of their lives... that statement is a bit daunting.

Deep down inside, I strongly feel as though they will both be candidates for IVIG Therapy. I am thankful to know that we will most likely have an answer in about 3 weeks (versus in September!). I remain hopeful that if they do go in this direction, that it's just transient and not true CVID. Only time will tell... and for some reason, I just can't buy into the quote of "this too shall pass" because, what if it doesn't.

It's not fair for them. I feel like my body failed them. I know in reality that I haven't failed them. But if they have this... at what point during their development did something go wrong? I've felt like this for quite some time with Pierce's mitochondrial diagnosis. And while he is on the mild end of the spectrum, we have no assurity that it will always be like this. It can change at any moment... and that scares me. I feel like I am constantly questioning every off thing he does - Why is his appetite suppressed? Is he falling more than usual for a toddler? For himself? Why is he sleeping more than usual? Are any of these symptomatic of regression? And  now, the thought of him having a compromised immune system on top of it... that just sucks. It's bad enough that he will be on a list of medicines for the rest of his life, but to think he may need IVIG forever too... I despise that too. But then I look at them... and I see their happy, smiling faces. I see them playing with one another. I see Pierce becoming more of a toddler daily and Brice becoming less of one. I see so much love and happiness. And that makes every single moment I worry and stress so completely worth it. I would be lying if I said I wished things, medically speaking, weren't different. It's a lot to take in but I still get to fulfill requests of "one more kiss " (actually 8 more kisses) and "one BIG kiss"... I still get to kiss them good night, every night And those moments are some of the moments I want to remember forever.