General Medical Info
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NOVEMBER 01 - JUNE 02
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Spent the last two nights at bedside with Stevie as he's in a fair amount of pain from the surgery. They are avoiding pain management as much as possible (Tylenol only) to keep him alert -- not great for his comfort, but he is better able to clear his airway. Did elicit two (2!) smiles from him this morning though, so he's still responding fairly well. Seizures remain controlled but he still has some congestion in the lower lobes of both lungs. They're giving him Albuterol treatments, which help dilate his bronchial system. They continue to try to wean him from the BiPap, following a four-hours on, 30-minutes off routine at the present. He is tolerating liquids through his feeding tube well and urinary function is normal following decatheterization. He continues to have a low-grade fever and will remain in intensive care until conditions improve.
They tried to take Stevie of the BiPap today, but he couldn't maintain oxygen saturation. Hopefully this is just due to the fact that he's not taking deep breaths because of the surgery wound to his abdomen. They will start trying to remove him for fifteen minute intervals every six hours. His platelets are dropping again as well, generally a sign that his Depakote level is high -- but it's not. So, that's something we'll have to watch very carefully, although it could simply be due to blood loss during the surgery. The combination of these items, though, may keep him in intensive care for another day or longer until they determine what's going on. Best for him, obviously, if there's anything else wrong, but not ideal for the rest of us as, unlike the rooms, there's not much of a place to recline for a nap. He looks a little paler today then he did yesterday, but he's been given a lot of morphine, and that can discolor a person. As always, twists and turns with each hour.
WEDNESDAY, 6/12/02 (2)
Just received a surprise call from the hospital. They were able to extubate Stevie much earlier than planned, which is wonderful news. He is now an a BiPap breathing device, which is simply a mask that seals over the nose and adds additional air pressure to his own autonomic breathing response. Barring further setbacks, he should only need to spend one more day in ICU.
Stevie underwent surgery for approximately three hours yesterday
afternoon/evening. A gastronomy tube was implanted, a fundoplication was done
and additional muscle biopsy was taken. The procedures went well, unfortunately,
they were unable to extubate Stevie following the surgery, so he remains intubated
today. We're in the unpleasant process of ceasing his pain and sedative medicines
so that he will be alert enough to remove the breathing tube. It's extremely
unpleasant to be on a breathing tube and alert at the same time, as the instinct
to clear the airway is strong. I've been told that even newborn infants will
never stop attempting to fight the tube in any way they can unless they are
Another consult with genetics also revealed information that re-opened doors that we hoped were closed. While we were initially told that the devestating forms of mitochondria had been ruled out, we now understand that we were misinformed. Several types were ruled out, but the tissue sample was insufficient to complete a full battery of studies. So, during the surgery they reopened the area of his leg where muscle was taken in October to harvest more skeletal muscle. This was aggravating, as one of our speciific demands when the original biopsy was done was that they be certain to take all the tissue they would need for mitochondrial testing in order to prevent the need to repeat the surgery.
Surgery now scheduled for Monday or Tuesday. Hoping that all goes well in the O.R. and with recovery, and that we later find there is no need for a tracheal tube. Stevie's kind of withdrawn into the state he enters after long hospital stays. He doesn't really acknowledge me or his mom... everyone elicits the same, subdued reaction from him. Last fall we were fearful he'd lost the ability to recognize us, but I now think he simply becomes very weak and depressed during extended hospital stays. I know I certainly would were I in his shoes.
After being quite well for several days, Stevie suddenly presented a 102 degree fever last night -- and showed signs of oxygen desaturation -- which persists today. He likely aspirated some food or saliva recently and his X-rays show some return of pneumonia. The latter option, saliva aspiration, is disturbing, as it is causing the surgeons to consider / recommend a tracheal tube in addition to the feeding tube. I'm extremely reluctant to take that invasive and unpleasant step unless we are certain he is unable to handle his own secretions once we've removed oral feeding from the mix. It seems to be a constant battle, arguing with the different specialties. Each have their own opinions and rarely do I have a discussion with one who has considered (or is aware of) all the elements that play into the picture. After pointing out a number of such items to the surgeon who was eager to perform a tracheotomy this morning, they agreed they should perhaps wait. Still, I don't know absolutely that I am right, so it's difficult emotionally knowing that what is my best judgment today might land him back in the hospital in a few months (after the surgery for the g-tube and fundoplication) facing the O.R. again. Regarding the fundoplication, spoke to his GP and others, and there seems to be a strong consensus that this is needed. I am deferring to collective wisdom, although I wish it had rested on a less intrusive conclusion. The surgery will have to be delayed until he is free of infection, so the hospital stay grows ever longer.
Mom arrived today to provide much appreciated support in all regards. The gastronomy tube is a given -- but we are debating whether a fundoplication is necessary. The procedure essentially tightens the muscles around the esophagus, and is much more invasive than the g-tube. Steven is very weak at this point so we are concerned about the risks involved with the additional procedure. Of course, if it is ultimately going to be needed, it is likely best to have it done all at once. The surgery will take place either Friday or Monday according to the current plan.
Stevie failed the swallowing study today. He was not able to adequately take in liquids or puréed foods, aspirating both. He will almost certainly have to have surgery very soon (i.e., as soon as can be scheduled) to put in a feeding, or "g" tube (Gastrostromy). The issue: his condition creates complications with anesthesia that force them to take him off his seizure medicines 12 hours prior to and 12 hours following surgical procedures. The last time this was done, with his muscle biopsy, he lapsed into uncontrollable seizures following the surgery and only a barbituate-induced coma was successful in stopping them. We will seek any measures that prevent a repeat of that episode, needless to say. We suspected a g-tube was going to be needed at some point, but hoped to get him home for a month or so to strengthen him up before surgery. He has lost significant muscle mass, strength and coordination in his now 23+ days of hospitalized inactivity. Not the best of days.
Stevie's 20th day in the hospital. Had some good news from the genetics lab. They've determined that he does NOT have one of the seven mitochondrial disorders that are considered devastating, i.e. always fatal. While they still suspect and believe he has mitochondria, the type is unknown. Click here for basic info on mitochondria. Ruling out the deadly seven, however, offers a good measure of hope for his future and his future quality of life. He seems to have beaten the respiratory problem, at least momentarily, although he has coughed/choked while eating, and presents some slight sounds of congestion again. This presents a danger of a recurrence of respiratory illness, so things are moving slowly. A swallow study is scheduled for Tuesday. The fear: If the swallowing study indicates he is aspirating food, they will likely want to operate to put a feeding tube directly into his stomach. Needless to say, we'd prefer to avoid this -- but it would be preferable to repeated returns to the hospital and they days of nonstop seizures that inevitably come when they transition from his oral medicines to intravenous delivery. For the moment, he can't yet sit on his own, and has greatly reduced coordination. He is, however, quite alert and responsive when awake. He recognizes people, smiles and tries to play with toys. Additionally, he fights treatment, which may not seem like a good thing to many, but it is a very welcome sign that he is returning to behavior closer to that of a normal four-year-old. Was to travel to France on the 14th with mom, but may have to postpone / cancel depending on his condition.
Stevie's 12th day in the hospital this time around. Initially he had chest congestion and a fever -- and seizures followed. After a few days on the critical care ward his breathing worsened and he was transferred to intensive care. Fortunately, after three days he was well enough to move back to critical care, which is a notch better than intensive. Rather than intubate, he's been placed on a BiPap breathing assistance device, which forces air pressure into his airway through the nose. This has made him able to rest somewhat comfortably, although he is plagued by continual myoclonis -- or seizures, it is hard to tell which. His eyes twitch most of the time and his hands, arms or legs will do so intermittently. He's rarely conscious, but on occasion will open his eyes and seems to have recognition of those around him. He's begun to fight against his feeding tube and other apparatus lately. A good sign in that he's got some spunk... not so great in that he's either more aware or more irritated by the things that cause him discomfort. Canceled a trip out of town for the three-day weekend in order to be near him.
Stevie's sick again. High fever and congestion -- the usual course for him. It's a catch-22 that he loves school so much. He has a great deal of fun but, as this chronolog will attest, he rarely stays healthy for more than a week at a time. In reality, I'm not sure keeping him out of school would help. He seemed to get sick just as often before his school days as his big sister no doubt carries home any bugs that are about. He's been sick since Friday and it's usually tough for him to fight things off very quickly, so I suspect he'll be out of school for most of the week.
Met with the geneticists and essentially came away knowing less than when I went in. They "undid" the diagnosis of mitochondrial disorder, feeling that the lab findings required more verification. Verification, unfortunately, that isn't available given current genome technology. In the end, the real clinicians, the neuro docs and cardiologists who actually handle these kids all the time continue to stand firmly by the diagnosis. This is in part due to their faith in the rather specialized lab that handles such work -- theysay the lab's almost never turned in a positive that wasn't later confirmed by other means. Learned from further research, however, that Complex II is coded in the nuclear DNA, meaning that Steven's situation would have to be autosomal recessive. Read: His mother and I would both need to possess the defective gene for his condition to occur. Although we'd largely exhausted other avenues from coproprophyria to other rare disorders, this helped to further rule out certain other conditions. So, we have conflicting opinions, and am unsure where to turn for a tie-breaking verdict. Meanwhile, Steven's needs significant dental work done that, due to his condition, will require hospitalization and anesthesia. We hope to schedule that shortly. Steven spent Sunday with me and was happy and very active. Although he completely exhausted me, I was delighted to see that he succeeded in destroying my house in short order... just like any soon-to-be four-year-old would and should. Good day.
Meeting with an entourage of doctors on Feb. 7. Geneticists, mostly, one from as far as Belgium who are interested in Steven's case. These disorders are so rare almost each case attracts quite a bit of attention from those who are studying them and hoping to crack the mystery. They say there are about 20,000 mito cases in the U.S., meaning that Steven's particular version (there are over 40 identified mitochondrial diseases) is present in just a handful of kids around the country and world. Continue to hope that the news will be more positive than negative. He was able to return to school this week although he tires easily and sometimes has to leave early. I'm delighted that he's able to attend, though, as he just loves being around other kids his age.
We at last received a diagnosis today. While Steven does not have the suspected Complex III (Cytochrome C Oxidase) deficiency in his mitochondria, he does have a Complex II deficiency. So, we are dealing with genetic mitochondrial issues after all -- the answer we hoped not to hear. There is little information readily available on this complex; even the neurologist could offer little insight. We will need to see a geneticist for more details. This particular disorder may only be inherited maternally, so his mom has to have DNA testing to determine if her daughter will also need to be tested for perhaps a less severe form of the disorder. We are dealing with a progressive illness and the survivability rates range from grim in the short-term to modestly optimistic. We'll know more about his specific prognosis following additional DNA tests on him. We'll also learn the best course of treatment to slow the progression of the many issues that these children face. Leigh's Syndrome often develops in these kids as well, and I'll offer more information after I've done the homework. Still, as I noted, there is little known about these disorders. Even the mitochondrial disease foundation has sketchy details. It's only been recently that these disorders were recognized as more than just a puzzling series of seemingly unrelated symptoms.
Steven has been battling what seems to be illness after illness lately. He had a very high fever (104.5 degrees) last week and required antibiotics. Got well for a few days. He actually made it to school last Friday, his first day since being hospitalized. On Sunday, however, he began vomiting and having diarrhea. It's just very tough to keep him healthy for any extended period of time. He's lost some of the weight he gained after getting out of the hospital and yesterday had that sunken-eyed look that one sees sometimes in the very ill. Fortunately, he was able to keep some food down last night and was somewhat better today.
Steven spent the afternoon with me and his mobility continues to improve. He remains somewhat unsteady and tires rather easily. Unfortunately, easy fatigue is a key symptom of mitochondrial disorders. Still, this could be a result of medications, as well. We hope to return him to school soon, but this will not be possible without treating the hyperactivity that has manifested of late, as he is extremely demanding and difficult to keep out of "trouble." It is the very medicines that control his seizures make him hyperactive. Paradoxically, stimulants, which will be used to treat the hyperactivity, will reduce his resistance to seizures. Yet another reminder that modern medicine does not yet contain "magic bullets" for much of anything, but rather offers an endless series of trade-offs. Much like life, it would seem.
Unfortunately, the full tests were not back today as I had thought / hoped. There was a positive note to the meeting with Dr. Clark, however. Based on Steven's recent lack of seizures and myoclonis on his new medications, the Dr. is more inclined to believe that it's possible we are not dealing with mitochondria after all. He indicated he would not expect to see the type of control we've achieved -- or any real improvement from any acquired conditions -- if mitochondrial disorders were in play. However, caution is the byword, as we were reminded that two prior tests have returned results very suspicious of a specific enzyme deficiency. More waiting.
Received word today that we're having our follow-up meeting with Dr. Clark (his primary pediatric neurologist) tomorrow morning. I assume this means we have results from the biopsies. I am praying for good news and bracing myself for the worst. I had Steven and his big sister, Jasmine, for a time this weekend. She is actually his half-sister, not my child, but she has never known her father, so I do what I can for her. Steven recognized and clearly knew me again, and enjoyed some of his old toys -- and looked pretty funny wearing the "Harry Potter" glasses I had for him (see picture, below). Both of them didn't want to leave when it was time to go, and Steven cried when I left them with their Grandma.
Stopped off at lunch to see Stevie today. He genuinely seemed to recognize me for the first time since his hospitalization. He gave me repeated hugs and kisses -- his old and usual way of letting someone he hasn't seen in a little bit know that he is glad to see them. I fed him spaghetti, and it's apparent he still has swallowing issues from all the throat trauma from intubation and other factors. He had visited his school earlier that morning with his grandmother, and she said he had appeared delighted to see his little friends and teacher (and they him) even though he only attended for 11 days before his illness forced him to stop. Hopefully he'll be able to return one day soon. For now, he still has difficulty maintaining his balance when walking or standing, but is certainly more mobile than he was a week ago. He seemed aware that he is not like he was before and seemed bothered by that fact. He remains congested although thankfully it is not pulmonary, just a very stuffy sinus. This compounds the swallowing problems as it's hard for him to breath and chew at the same time. Still, great to see progress. Hopefully it will continue at a rapid pace.
On antibiotics today and the fever is largely being checked. Steven is very lethargic and almost in a stupor, no doubt a result of his illness combined with the heavy medications he takes. Fortunately we appear to have avoided a potential emergency visit to the hospital for the time being.
SATURDAY, 12/15/01 (2)
Steven's regular pediatrician is out
of town but, fortunately, his stand-in has called in and antibiotic prescription.
Steven was given Diastat as he seemed to be "out of it" -- so difficult
to tell if behavior like this is due to fever or seizures. The latter was the
likely case, however, as he responded very well to the Diastat and was then
able to take his medicine by mouth. This is the first instance of absence seizures,
or any seizures that weren't simple myoclinis, since his release from the hospital.
No final results yet from the muscle and skin biopsies.
Medication: Clorazepate Dipotassium (Tranxene), Valproic Acid (Depakote), Lorazepam (Ativan), Zonisamide (Zonegran), Carnitine
Steven is sick again today with a bad cold. He seems very susceptible to illness and lives in a home with another child and a number of animals, so he is exposed to and comes down with bugs often. The main concern today is that he is running a fever of 103 degrees taken under the arm, which means it could be above 104 rectally. In the past, doctors have failed to treat his fevers aggressively and we feel this has caused him unnecessary trauma due to the resulting febrile seizures he suffers. We're trying to get a course of antibiotics started on him as soon as possible, as would be done with any high-risk patient, i.e., the elderly or severely asthmatic. I believe the doctors are, at last, sensitive to his respiratory vulnerability and I believe we will be successful. The situation brings inevitable flashbacks of his most recent hospital stay, as a persistent fever marked the beginning of that entire experience.
Steven continues to have issues that he did not have when he entered the hospital. He cannot stand or walk unassisted, cannot feed himself, etc. Additionally, he does not seem to recall surroundings, objects or rituals that were once very familiar to him. He makes infrequent eye contact and is generally less socially engaging. Fortunately, he still laughs when tickled or while playing very simple games of "tent" and such. So, the good news is that there is still some measure of joy remaining in his life.
Steven James is home at last. He was
released on Tuesday evening and I carried him from hospital room to the car.
Grandma Ginny and I took him home until his mom was able to pick him up. It's
an enormous relief for us, as the hospital routine was very wearing and becoming
moreso over the months. Even better, however, is the fact that Jay is home,
unharnessed by monitoring wires and isn't being poked and prodded every thirty
Our meeting with the care teams on Monday revealed little new news other than that a second staining biopsy also indicated the possible presence of a Cytochrome C Oxidase deficiency. Final DNA splicing results, the "gold standard" in mitochondrial disease identification, might not be returned for some time.
Jay's physical and mental functioning remain notably diminished from prior to his hospitalization, but there is hope that he will make gains through therapy. It also continues to be unclear if he recognizes any of us or his old, once-familiar surroundings. It is a challenge to get him to swallow the many, many oral medications that he must take every few hours to control his condition -- but it must be done. Ginny flew home early this morning and, for the first time in ten weeks, I am home with no need to check in at Texas Children's. Hopefully more good news will follow in the coming weeks as we wait final results of the biopsies.
Steve (Sr.) and Bethany departed back to Richmond this morning. Mom and I went to watch Jay. His mobility continues to improve, although he cannot yet stand or walk unassisted. This appears to frustrate him greatly, as he was in physical respects a normal three-and-a-half year old just two short months ago. His inability to produce or understand speech compounds his frustration, as he otherwise appears to have normal intelligence.
The doctors all comment on how physically strong and sound he is -- he is blessed with a sturdy and well-muscled frame. It is so baffling to see a child appear so healthy -- then exhibit one or more of the myriad of symptoms that he presents. Today the twitching and jerking in the arms was less than yesterday, at least as of noon. When the twitching grows severe, he will attempt to hold the offending limb down with the rest of his body, to no avail. Unfortunately, the jerking is often so severe that it prevents him from sleeping. The only solution, heavy sedation, is clearly not something that is practical on an ongoing basis if he is to enjoy life at all.
Tomorrow we meet with all involved medical teams: Neurology, Endocrinology, Critical Care, Physical Therapy and others. We expect, based on his progress, that he will be released soon. However, we have learned to temper such expectations, as setbacks seem to be the rule -- often erasing any progress he might have made recently and more. He had attended special school classes for two weeks this fall before his hospitalization and he loved it dearly. It was his first opportunity to be around many other children his age. It is unclear at this time if his condition will allow him to return.
Also a concern is inter-hospital communication. We expect Jay will return to the E.R. in the future, as he has so many times in the past. We hope to avoid the norm -- having to recount his entire, complicated history to the E.R. personnel while receiving inappropriate treatment. His condition, on a complexity scale of 1-10 is a 10, so triage-based medicine is rarely on the mark with him. That is in the future, however. Today, he is enjoying pudding, mashed potatoes, and romping about on his physical therapy mat with Grandma Ginny -- who has provided support that can't be properly credited in words.
Medication: Clorazepate Dipotassium (Tranxene), Valproic Acid (Depakote), Lorazepam (Ativan), Zonisamide (Zonegran), Carnitine
Steven remains in Texas Children's Hospital in the Progressive Care Unit. He was admitted in late September for uncontrolled, Myoclinic seizures and Myoclonis, then released for two days. He was readmitted on 10/5 and has been there since.
It was necessary at one point to induce a full barbiturate coma to arrest the seizure activity deep within his brain. He is now relearning how to walk and perform other basic functions that are often lost when such a coma is induced. Complications followed, including a chronic respiratory infection and dangerous sodium and platelet levels due to the many seizure medications he requires.
We await the results of a muscle/DNA biopsy -- but the consensus is that a deficiency in Cytochrome-C Oxidase will be found, a result of genetic abnormalities in the mitochondria. This deficiency results in problems converting oxygen and other nutrients into energy that the body requires to function. In simple terms, Steven may have a rare, genetic disorder that is progressive and, as of today, incurable. Approximately one to three thousand children in the United States are believed to suffer from this disorder. Unlike other DNA abnormalities, this disorder may only be passed on by the mother, as sperm cells contain no mitochondria or mitochondrial DNA.
We remain optimistic and are grateful for the days when Steven is alert, not suffering and free of seizures. Unfortunately, many days do not fall into this category, and we do our best to comfort him.
Medication: Clorazepate Dipotassium (Tranxene), Valproic Acid (Depakote), Lorazepam (Ativan), Zonisamide (Zonegran)
I'll do my best to post updates here as information is received. In the meantime additional information is available (and donations may be made to) The United Mitochondrial Disease Foundation: http://www.umdf.org/