Warning…this is a long post, with lots of information. It may cause some confusion, but hopefully it gives more clarification.
Clarity has always been our prayer when it comes to deciphering Lucy's issues. It sounds like a simple prayer, but oh Lord we recognize that it's anything but simple.
A little background medical history on our girl, humor me for those who have been following our story for a while, it's always good to have a refresher course every now and then. Lucy suffers from mitochondrial disease, a disease of energy metabolism in which the body is unable to effectively convert food and oxygen into energy. The mitochondria, if you remember back to your biology days, are responsible for creating energy or more scientifically adenosine triphosphate(ATP). Mitochondrial disease is a cellular disease, mitochondria are present in every cell of our bodies minus our red blood cells; therefore, mitochondrial disease can affect the whole body. Persons who suffer with the disease experience a myriad of symptoms that range in severity from mild to severe. Unfortunately for Lucy, her issues tend to gravitate toward the more severe side. Mitochondrial disease is an incurable disease at the present time. Sadly, there are little to no proven treatments or drugs that can be used to treat the disease - no FDA approved drugs or proven therapies. The "mito cocktail" is a custom combination of vitamins and co-factors that are, for all intensive purposes, used to assist the body with metabolism. It is by no means a proven therapy for patients with mitochondrial disease. Instead what is done is to treat the symptoms of mitochondrial disease. For our girl that means treating her failing intestinal system, her dysfunctional nervous system, her seizure disorder, her severe hypotonia which affects most of the muscles in her body, her cognitive and physical delays, her body's inability to produce sufficient blood cells which impacts her immune system, her pancreas, gallbladder, liver, stomach, small bowel, colon, bladder…
With every treatment option presented for Lucy there have been or are risks and benefits, pros and cons, quality of life hopes and concerns. We have weighed every decision that we have been confronted with by asking, "Will whatever we choose improve Lucy's current quality of life?". Please recognize that the decisions we have made are just that, decisions that WE, not you, have made. I mean this in the nicest way, if I have learned one thing in all of things we have been through in Lucy's five years of life, it is that you never know how you will react until you yourself are faced with having to make a decision.
Intervening with one area of the body often has a domino effect when dealing with a systemic disease - you fix one problem only to create more problems. Problems that are hopefully also treatable or at the very least livable. Intervening with Lucy's falling intestinal system disturbed the delicate balance of bacteria living in her body, this disturbance has caused issues throughout her body that has lead to our "war on bacteria". While simultaneously fighting this war, we are fighting with disease progression - one organ after another being affected by the disease.
Which leads us to our most current issue, Lucy's bladder. Lucy was diagnosed with a neurogenic bladder at around three years of age. Similar to her failing gastrointestinal system, the nerves and muscles in her bladder do not function correctly, they fail to signal her body to urinate leading to urinary retention that is painful and infection causing. In an effort to assist her body with this process we began intermittent catheterization years ago. We cathed our girl this way until last year at around this time when her bladder and urethra became too damaged and diseased for us to drain her urine like this. We decided to surgically place a hole in Lucy's bladder just above her pubic bone in which we placed a tube that continuously drains urine. This procedure was know as a suprapubic cystostomy. We chose to do this as a comfort measure to help alleviate the pain and discomfort associated with straight cathing. Here's the thing, a foreign object in the body is not natural, our bodies were not designed to accommodate non-human parts.
Upon admission on December 16th we discovered, in addition to severe pancreatitis, that Lucy's urine culture grew positive for yeast. These two issues are seemingly unrelated; however, when Lucy's body gets stressed from illness it seems to exacerbate other problems in her body - the domino effect I was describing earlier. Yeast is very sticky and likes to stick to plastic tubing, as such we knew that we needed to replace the tube in Lucy's bladder to try to eliminate it. Here's the thing with yeast in the bladder, once it resides in there it's not really going to go away - fungus is tricky like that. In reality, there are several organisms that reside inside of Lucy's bladder, for the most part they live there peacefully - what I mean is that they are not infection causing. When the bacteria and yeast overpopulate and cause an infection, that's when we treat. Replacing the tube in her bladder appeared to eliminate the overpopulation of yeast. Repeated urine cultures after we replaced the tube have all come back negative for yeast. However, on Monday when Lucy was in the OR, they replaced her tube again and sent the tip of the tube off for culture. We just learned that it grew positive for yeast. Like I said, yeast is tricky.
We are in a very difficult spot when it comes to treating infections for many reasons. Lucy is on continual "big gun" IV anti-fungals and rotating antibiotics all in an effort to keep her infection free for as long as possible. We recognize that this is not a standard treatment option, but when it comes to Lucy the standards are different, they just are. Our reasons for pursuing this treatment option were truly quality of life reasons. Keeping the infections at bay for as long as possible hopefully means less time living in the hospital and more time living at home. On the flip side, it also means that if an infection occurs it will most likely be difficult for us to treat. There are not as many anti-fungals as there are antibiotics in the pharmaceutical world, which means our med options are limited. Even more limiting is the fact that Lucy has had multiple fungal infections in her life that we have treated. The fungus that she is growing in her bladder is resistant to many of the anti-fungals that we have used before. The only other anti-fungal option left for us to treat the fungus in Lucy's bladder is Amphotericin - nickname "ampho-terrible". The yeast in her bladder is there, but not infection causing, therefore we are holding off on treating her for this. In all honestly, we are afraid of two things. One, her becoming resistant to ampho if we were to use it to treat the yeast in her bladder, it's the only remaining anti-fungal option we have if she were to get a systemic fungal infection. We don't want to have to use it unless we really need it! And two, our team is terrified that Lucy would not survive an ampho infusion, she is too medically fragile and the medicine is really that awful!
It's evident to everyone that knows and loves our girl that Lucy is in a lot of pain! Since a fungal bladder infection was not the source of Lucy's excruciating bladder pain, it begs the question then, what is? Our best guess is that the pancreatitis set off a series of events inside of Lucy's body, stressing her bladder which has lead to an increase in bladder spasms and even more inflammation in her bladder, an already very diseased organ in her body. It was the straw that broke the camel's back, so to speak.
As her belly pain from the pancreatitis was beginning to subside by the end of last week, her bladder pain was dramatically increasing. Incessant bladder spasms were causing Lucy to actually soak through diapers, it's the propulsion from the bladder spasms that is causing this because Lucy cannot urinate on her own. Lucy's complaints shifted from telling us her belly hurt, to crying that her bladder hurt her "a lot". We attempted to instill a numbing medication in the bladder in hopes of alleviating her pain, instilling anything into the bladder caused her more pain! We discontinued all meds into the bladder and switched Lucy to a topical oxybutynin patch in hopes of helping control her bladder spasms. Sadly the patch at the dose Lucy requires causes vision loss in our girl. For now vision loss is something that we are willing to accept if comfort can be achieved. The correlation between Lucy's vision loss and the patch was a discovery our urologist put together last year when we were using the patch regularly. We discontinued the use of the patch post suprapubic surgery because for a while there Lucy was not experiencing bladder spasms. Unfortunately, bladder spams started plaguing Lucy again in September when she became sick with sepsis from cholangititis.
Pain management has been our number one priority, but comfort at all costs is something we are not willing to say - at least not yet. Comfort at all costs means just that, we will achieve comfort no matter what. We increased Lucy's pain medications dramatically over the course of the past 11 days, but Lucy tends to walk a fine line between pain control and breathing. By Sunday her pain had increased dramatically and during rounds Lucy clearly showed the team just how much pain she is experiencing. Our main doc was compassionate and quick to respond as was the Chief of Urology who was on call and meeting Lucy for the first time in person. Sure he knew of Lucy, she kinda has a reputation around the hospital for being an exceptional gal, but to meet her in person for the first time under these circumstances made an impression. Both docs agreed that shortening the interval between her Valium dose from every three to every two hours could help, Valium is a very effective med for bladder spasms. In reality it didn't help, instead it suppressed her respiratory drive enough that she was in need of quite a lot of breathing assistance from Vapotherm.
Very early Monday morning while switching Lucy over to Vapotherm we simultaneously made the switch to a PCA pump of dilaudid. This allows Lucy to receive a continuous infusion of pain medicine as opposed to receiving scheduled doses of pain medicine every few hours in which the medicine was wearing off before her next scheduled dose. Our girl was riding the awful roller coaster ride of scheduled dose narcotics in which you experience the peaks and valleys of the medicine. The PCA allows a continuous infusion of pain medicine that eliminates the peaks and valleys. It has made a difference, thankfully, but as her pain persists her tolerance to the medications are building.
Over the course of the past several months Lucy's picky picky bladder has been a source of discomfort and frustration. Cultures have for the most part been negative for bacteria, with the exception of the positive yeast culture, but her urinalysis has shown persistent white cells over the past month. All of her bladder issues, combined with the dramatic increase in pain since admission, prompted us to take Lucy to the OR on Monday to examine her bladder and assess the situation. While in the OR we also planned on instilling Lucy's bladder with a "bladder cocktail" containing a steroid for inflammation, heparin to dissolve blood clots, gentamicin for antibiotic coverage, and marcain for pain control While preforming the cystoscopy they discovered severe inflammation in Lucy's bladder, most likely due to disease progression, and also from having and indwelling catheter in her bladder for so long. In fact they discovered the indwelling Foley catheter that we have been using to drain Lucy's bladder has been causing constant irritation to the bottom of her bladder, the trigone, the most sensitive part of the bladder. This constant irritation has lead to erosion to this area. The debris and sediment that has been clogging Lucy's bladder is caused by tissue and cells from the erosion of her bladder. Poor girl, the Chief of Urology who preformed the procedure came out of the OR several times to discuss his findings with Drew and I. He attempted to described to us the type of pain that Lucy is experiencing, I will spare you the description and just tell you that it is an excruciating pain! In an effort to stop the constant assault to the bottom of her bladder, we had to change the type of drainage tube we were using from a Foley catheter to a pigtail drain. A pigtail drain, although a bit stiffer than a Foley, does not have a poky end, but rather a curly end that forms a loop when installed, hence the name. Our hope with this type of drainage system is to prevent the tube from poking into the bottom of Lucy's bladder.
In spite of changing the type of tube and instilling the "bladder cocktail", Lucy's bladder pain and bladder spams continue to persist. We took Lucy back to the OR yesterday to give Botox injections into her bladder in an attempt to stop the incessant bladder spasms that are so painful. Lucy is being described as having interstitial cystitis/painful bladder syndrome, but she does not really fit the profile for the disease. In reality, Lucy's bladder issues are related to her underlying mitochondrial disease. We have intervened with so many areas of Lucy's body, prolonging her life, more and more organ systems have become affected by the disease. We are not sure if the Botox will work, but at this point we felt that it was worth trying. So far we have not noticed any changes, if anything she is more uncomfortable from the procedure and bladder spasms are still persistent.
While discussing the enormity of our situation with the many loving and caring doctors in our life, I keep saying to them that I can't believe it's her bladder that is going to take her down, her bladder. Their overwhelming response is it's not really her bladder that is going to take her down, it's the disease progression, her bladder just happens to be the biggest source of pain and discomfort at the moment.
We are in a very difficult position, at another cross roads. We are running out of medical options that could improve Lucy's comfort and quality of life when it comes to her bladder. At times it seems almost unbelievable that we are here, mainly because we have always had the most "out of the box" thinking and extreme options presented to us all throughout Lucy's life that have, for the most part, provided her with the "best longest life". It feels surreal to be at the point where we have exhausted all of those options and now need to consider "comfort at all costs". We are not giving up hope, we will never lose hope.