Ok – i know I have been delinquent with this update. i don’t even think I could have predicted that it would mean another week in the hospital and then another week to recuperate once we left there! So – in my semi-coherent, very tired, not making a whole lot of sense state, i will attempt to give at least a brief overview of what we learned during our time in pittsburgh.

Overall, I have to say that we DID receive a lot of answers there. I had sent about a 4 page email to Dr. G ahead of time, per her request, that listed out all of my questions that we did not get to go over during our visit to her office the week before. I went through system by system what my main questions were that i craved answers for, what things we deal with on a daily basis that just never seem to make much sense, but are a real part of our life nonetheless. And when we got there, she told me that she had forwarded my email on to her team of about 5 or 6 residents (i lost track of the entourage with her every day!), and told them “THIS is why these people have traveled across three states to come see us, and THIS is going to be our job this week, to answer as many of these questions that we can find the answers for”.

and sure enough, they all had a pretty clear vision of what we were trying to get help with. As i was able to post about during the first few days – we had specialist after specialist coming in to the room in a near non-stop parade. There were many times throughout the day when I would pick up the phone to call home to talk to the other girls, and in would walk another doctor with another set of questions or testing suggestions. it was truly dizzying, and utterly amazing.

I will try to go system by system and give you the run-down on what we learned:

Eyes:  Although i personally felt like this was akin to trying to stuff a baby octopus in a pair of pantyhose, we somehow were able to dilate kendall’s eyes and have a fundoscopic exam. They tell me that they didn’t see anything of concern at this time. If my darling child had been in any way shape or form cooperative for this exam, i would buy that hook line and sinker. Considering the fact that all three of us were sweating bullets from trying to pin her down for more than point-3 seconds so they could shine the microscope thing into her eyes – I am guessing this one will need to be re-visited next year. (And in case you are wondering why we had to do it at all, many metabolic diseases, including mitochondrial disease, can affect the vision and structures of the eye because of the sheer amount of energy they consume. It has been suggested to us at least 5 times in the past year by 5 different doctors to get this exam done, and Dr G  felt very strongly that we needed to get one sooner rather than later.) Other than her eyes remaining freakishly dilated for the next 48 hours, i think we were able to say that her vision seems to be ok for now. considering her nearly legally blind parents, this is a huge relief!

ENT/Speech: The major thing to come out of this consult is that Kendall is still refluxing, pretty badly, and her swallow has gotten worse at some point in the past few months. The feeding therapist was able to point out that what we have always thought of as just a cute quirk of Kendall eating was actually a pain response to the massive refluxing she is doing. It’s hard to explain in words without showing you, but basically Kendall will drink her bottle a few gulps at a time, and then put her binky in her mouth for a few suck/swallows. We always joke about her being “two-fisted” – having the binky in one hand and the bubba in the other. Apparently it’s not a joke to kendall! The therapist said that she actually has to teach most kids who reflux like this to DO this – to slow their swallow down and suck on something else to help the refluxate stay in place in the stomach. I’ve known that Kendall still has some “reflux issues” when she gets the super bad hiccups that just don’t go away, but having the therapist point out how often she is refluxing when she eats was kind of heart-breaking to see. What makes this even worse to me is that she is doing this through the fundo wrap. Meaning that it is either completely blown, that it is very loose, or that she is refluxing with a ton of pressure to get past the fundo tightening.

The next day she was able to get squeezed in for a video swallow study (nothing short of amazing really – that NEVER happens to us that we can get added in at the last minute!). At this study, Kendall was VERY amenable to trying the different textures they wanted her to try. In swallow studies in the past, including one in march of this year, Kendall has been less than enthusiastic or able to tolerate the different textures – thin liquids, thick liquids, purees, and crunchies. What we have known/assumed is that Kendall used to have dysphagia/aspiration on everything she ate (first few months of her life). After the Vital Stim therapy she went through last spring, she seemd to have an ok swallow with thin liquids (her formula in the bottle with a preemie sized nipple on so that she could control the flow better), did great with crunchies (cereal, crackers, cookies, etc), and was having a hard time clearing thicker liquids/purees from her airway because she just lacks the muscle tone to move them. In March, she showed some “near penetrations” with everything – but we thought it was just because she was pretty sick at the time. (well, that and i was still in a pretty good state of denial at that time because I didn’t want to take her NPO – nothing by mouth – even though it was being suggested to us to help her lungs/airway out in early spring).

And on this “perfect” test – meaning she willingly tried all the textures and i thought was handling them pretty well for her (no obvious choking/gagging like we get a lot of the time) – she was penetrating/nearly aspirating on thin liquids, and doing the near penetration thing with purees. Hard crunchies were, i think, ok – at least they didn’t say anything about it to me. I was too devastated at the thin liquid news to process much past that. I don’t know if I was more disappointed because this is possibly an area of regression (meaning she has gone backwards, lost some skill she previously had), or because she maybe never had the skill in the first place. Either way, dysphagia is still well and alive in our repertoire of ICD-9 (insurance billing) codes. And dysphagia is, in and of itself, a sign of neurological involvement or impairment. But I am pretty good about blocking that last part out. So – final answer – thicken her feeds (with a commercial thickener), and if she is sick or otherwise having a “floppy day”, eliminate oral feeds as much as possible.

GI/Intestinal Motility:  The I-care team came in to meet with us and ask us a few questions regarding Kendall’s motility. While I really do have probably the most questions regarding this area, they seemed a little hesitant to jump in with changes or recommendations at this time with all the other testing we were doing that week. Turns out they were right (based on the fact that her gut did indeed take a nosedive into shutdownsville a mere three days after they came in!) They do want to follow her and work closely with her GI in Milwaukee to figure out what function she does have, and if it is possible that we will be able to get her back onto G feeds, or even full oral feeds at some point in time. I am guessing that for right now, they feel like J-feeds are her best option, and don’t want to do anything to mess up the quasi-homeostasis she is (or at least WAS) currently at. I am hoping that we will get some better direction here, although really, after what we saw happen to her gut from some anesthesia/headache pain, I am not real into making any major jumps or changes anytime soon! So while they didn’t have a whole lot in the way of “answers”, they do seem prepared to jump in when or as needed in order to maintain the function we do have and make appropriate plans from there.

Physiatry/Physical Medicine & Rehab doctor:  This poor doc got to see Kendall on her WORST day – the last one, when she would hardly even put her feet down for the doc, let alone show her the “drunken sailor” walk. In essence, this doc does feel that Kendall’s prognosis will likely be based on her final diagnosis – but did recommend for now that we continue to brace Kendall’s feet to correct her awkward positioning of her feet and hopefully provides some stability to her legs and hips. She also recommended that we continue with the high regimen of therapy that we are currently on, and was pleased that Kendall is already in aqua (swimming) therapy. Other recommendations included a rubber helmet to protect Kendall’s huge noggin from outdoor falls (to which Ben swiftly replied “heck no”), and possibly a medical/adaptive stroller, carseat and high chair in order to provide her with the support she needs to be properly positioned for each of those different activities. Again, she would like to see Kendall for follow up if we do come back to Pittsburgh so she can make more specific recommendations, especially once we get more diagnosis direction.

Immunology/Allergy/ID:  The MAJOR question for this team was “do we need to start IVIG for Kendall?”  IVIG, or passive immunization, has been bounced around by kendall’s docs for almost a year now, with no one being able or willing to pull the trigger on saying yes or no. it’s just been THERE. Yes she probably needs it, but no we don’t want to be the ones to recommend it. The problem is that we really can see how much of a hit her ENTIRE system takes when it is metabolically overloaded or stressed. she has proven that time and time again over the past year with provocations both big and small. And since she has not managed to break her 4 month “out of the hospital” streak from random infections requiring inpatient support, we really need to have a better plan in place with cold and flu season coming up. So after re-testing her immune levels, the pittsburgh immuno team ACTUALLY CAME UP WITH A PLAN. I am still shocked. Well actually, they tried to pull the same “well, mom, its up to you! we could go either way on this!” – and i told that darling little 1st year resident that that was NOT a real answer and she better go scrounge up a quarter somewhere and flip it because i did NOT want to hear her come back in until or unless she had a solid answer. So the head attending for immuno came in to explain things a wee bit better, and said that essentially, her immune levels, the ones her body has to make all on its own, are all still very borderline low. They aren’t just “bumping up” on their own as she gets older/healthier as we had all hoped last year when we discovered her deficiencies in this area. And considering that they were all just barely within range at THIS TIME, when she is about as healthy as we’ve ever seen her – I shudder to think how low they could be going when she is actually trying to fight an infection. Dr. M said that in cases like this where there isn’t a clear scream out for IVIG (meaning her body is making SOME immune response, just probably not ENOUGH for her infection rate) – they typically recommend prophylactic antibiotics – a little dose every day to just help the body fight infections better. Considering that we ARE already doing this, and have been for a few months now – we will know that if Kendall continues to get infections that land her inpatient, we will be making the right call to start the IVIG. The pittsburgh team will send orders over to the infusion center of our choice here locally, and we will get it started as soon as we decide she needs it. Once she starts it, she will be on it for 6 month cycles as we assess her function and ability to fight infections. Once she proves that she is doing a better job of making her own immunities, she can be done with it. This was not my original understanding of how it worked, so this was relieving to me to hear. I thought it was in essence a “once you start you can’t ever really stop” type of deal, and that it would take a few months to have an actual affect on the infection rate. Dr. M was really great about answering all my (stupid) questions and helping us figure out a little better when and where and if we will start the IVIG therapy. For the uninitiated, IVIG is essentially a blood transfusion of the “immunized” blood of many different donors (I realize i am oversimplifying it for those who DO know about it!). It can be very tough for kids’ bodies to handle for this reason, as their body has to work really hard to assimilate all these immunities into their own bloodstream and then start making its own little similar army of immunities. When you first start the therapy, it is very likely that it will need to be run as an inpatient to monitor for bad reactions. It will require monthly visits to an infusion center, where they typically hook little kids up to their chemo. It will require a tramautic poke to search for a vein that will hold for the entire length of the infusion (usually 8-12 hours). I give you all these details not because it’s something we have decided on, but so you understand why it’s not just an easy answer. But it WAS an answer, finally – so for this we are grateful.

Pulmonology:  I am getting super tired now so I am going to try to condense these last few because i am sure i will be back to revisit them in other posts! – Pulmo doc was AWESOME. She was mildly horrified at all that Kendall has had to endure with respiratory infections, but is very encouraged that as of yet, Kendall has not needed intubation for ventilator support during these infections. (so are we!) The biggest news of all came during the bronchoscopy that was performed when Kendall was under for the MRI/MRS on thursday, where dr. A (yes both of our pulmo’s are now Dr. A’s!!!) discovered that Kendall’s left airway, just past her trachea, is in a state of near-collapse on a pretty regular basis. The airway was flopping in on the camera, so Dr. A said that if its that floppy with the semi-hard tube of the camera in there, she can only imagine how hard it is for Kendall to keep it open when she is running around/playing/upright/coughing/fighting infections. this may explain why we see such a “need” for the oxygen support even though her sats look ok – but that may also be purely metabolic in nature. There were a few other non-specific findings – her lungs started bleeding when the camera barely scraped the edge, there was some evidence of atelactasis (I think i spelled that right – lung collapse, basically), some inflammation from aspirations – nothing shocking like the bronchomalacia on the left side. They sucked a bunch of junk (“broncheoalveolar lavage” – isn’t that a fun word???) out of both sides and are seeing if it grows anything fun that might explain the repeated pneumonias – but it is looking more and more like those are from the reflux from below or the bad swallowing from above.

They recommended that we start using a “cough assist” machine – the scream machine! – to help Kendall learn how to cough stuff out of her airways better and hopefully strengthen that left side to stay open a little bit better on its own. We switched up a few of her meds since the albuterol we typically use in her nebulizer when she is getting “junky” with her breathing is a muscle relaxer – apparently NOT what you want to have happen when your airway is already happy to collapse in on itself. So now we have to give her Atrovent in the nebulizer, which our regular Dr. A makes her have when she is inpatient and it turns her into a raving psycho-toddler hose-beast. Can you tell I *heart* this medicine? But – if it works and keeps us out of the hospital, then so be it. Pulmo wanted to follow us weekly I think if she could! But will settle for us following up with her anytime we are in pittsburgh, with at least monthly phone calls/emails to check in with pittsburgh Dr. A.   I really liked this doctor and her team of residents and am hopeful that they can help us get the lung junk stuff under better control for Kendall!

Cardiology: they did not feel there was any evidence of Pulmonary Hypertension at this time, do not feel her PDA is significant due to its size (small), and DO feel like even though her heart is asked to do a lot because her autonomic system likes to go haywire and tell it to beat way too many times per minutes sometimes – that it is a good STRONG heart, and should be able to withstand the pressures put on it. That was good news to HEAR, but the reports listing all her “cardiomegaly” and “left sided hypertrophy” were a little less encouraging. Along with a few other valve “insufficiencies” that were listed as minor – it just means her little heart does work pretty hard every day – and again – this is during her HEALTHY time! I am not sure that we’ve left the PH issue in the dust just yet, but hearing that her heart seems strong at the moment was certainly good! So we will continue on with the intermittent O2 therapy during times of stress and continue to monitor her HR’s.

Neurology:  Dr. Goldstein, the main doc who was running the show for us in pittsburgh, had some really good conversations with me every evening after we had seen everyone else for that day. I will need to blog about the details of these convo’s as well as the genetics consult in a different post as I am still trying to process through all of that info. But basically, it does not appear that she is having seizure like activity RIGHT NOW in her healthy time. Her MRI/MRS showed more of her “abnormal but diagnostic” features of “mystery metabolic disease”, as well as “delayed myelination” – which is just a fancy term for slow=growing brain cells. It explains some of her developmental delays and her struggles to catch up in spite of the huge amounts of therapy – but beyond that doesn’t mean a whole lot right now.

and that’s about all I can remember or type right now…

I am sure i will have more to type tomorrow!

t-crest