I don't even know if I have enough energy for this post - or brain cells.
During my pregnancy the maternal fetal doctor found a birth defect that made the Down syndrome diagnosis insignificant; Tomas stomach and intestines had never fully fused together and he would need urgent surgery shortly after birth.
When he was just 32 hours old Mike and I said goodbye to our oh so small son in the hallway outside the OR and began the journey that now engulfs us. Three and one half years later we know a whole heck of a lot about how a GI tract is supposed to work, and very, very little about why Tomas' doesn't.
His liver wasn't working when he was born, it is now, but intermittently flares up with disease. He has had one liver biopsy which showed pericholangitis (swelling around bile ducts) and is having another one sometime in August.
His stomach refluxed food back up into his throat which then fell back down into his trachea; he had surgery (Nissen) to fix that at 6 weeks and again at 14 months when it came undone.
He had gallstones at 10 months old and his gallbladder removed when he was 15 months old due to chronic infection.
He had part of his stomach herniate up into his chest cavity and push on his heart, part of his liver herniate and push up through his diaghram, and part of his bowels herniate through his abdominal wall; all surgically corrected at 14 months old.
He doesn't swallow well, although this is slowly improving. He has little interest in food, but this is also SLOWLY getting better. That is the main reason he (still) has the feeding tube, because he can't swallow enough without aspirating on it, and because at this point he has never eaten by mouth and could never take in enough calories that way to sustain himself.
There is more to it than that though. Even if he would or could eat enough orally he would still have trouble. Food just doesn't move well through his lower GI tract. Sometimes it sits in his stomach, sometimes in his upper bowels, sometimes his colon. And heck, sometimes moves BACKWARDS. Again, no clear reason why. We do know it is not a anatomical issue - since his early abdominal surgeries his anatomy is correct and there are no blockages or anything else physical to prevent food from moving through. It just doesn't. His nerves and muscles don't coordinate digestion. Whether that is a nerve damage or neurological issue remains to be answered.
So that is why he is on TPN. As I mentioned in the blood post, in 2010 Tomas began losing weight at an alarming rate. He never had any stellar weight gain and certainly had his share of GI troubles before than, but that is when it all began snowballing. He caught a virus in March of 2010 and things went downhill fast. In many cases like his a virus is the trigger for an underlying/dormant issue (much like Autism can be "triggered"). By summer of 2010 he had lost 30% of his body weight, and his nutritionist and GI decided to put him on TPN to let his GI tract rest and give his body the nutrition it so desperately needed.
For the next year his GI here in NY has been trying to wean him off the TPN with a combination of pro-motility drugs (including one that is not available in the US and has to be brought in from Mexico), elemental formula, and a very involved feeding schedule. At its very best, Tomas has been able to take in 600 calories a day through his stomach, and his average is around 400. Just not enough to live on, much less grow and thrive. Part of what is new and what is changing is that during our last clinic visit the doctor said that Tomas is just not going to get off the TPN, and we all need to come to terms with that.
That means we are switching gears; no more urgency to get rid of the TPN before it ruins his liver. That is what TPN does, over time it damages the liver and eventually leads to liver failure. Sometimes it is a few years, sometimes it is many years. But it happens, and in Tomas' case the doctor said we should expect it in a shorter time frame since he has pre-exisitng liver issues and multiple other issues. TPN is life saving and life taking all at the same time. It prolongs life, had he never started on it one or more organs would have failed due to malnutrition. Since he did start on it (and can not get off it) one or more organs will eventally fail. This is the first time any doctor and I have had a serious conversation about Tomas' condition being life shortening.
Now the urgency is to understand his diagnosis. This news, along with his neurological issues, is the drving force behind pushing for that diagnosis. So we can effectively treat him to the best ability of medical science. The GI doctor wants to do a liver biopsy, muscle biopsy, and a botox injection to his anal sphincter. He plans to combine procedures with the neurologist and hopefully get everything done by mid-August.
Much of how we proceed will depend on the results of the biopsies and on what neurology (next post) has to say.
Tuesday, July 31, 2012
Friday, July 27, 2012
The Finale
At nearly 11 pm the senior resident walks in and says that the on call nephro wasn't sure what was going on, so I asked him to call the attending.
"It's 11pm"
"Uh, huh -Look, this morning I was told that Tomas' ph was high because his kidneys were dumping acid in order to offset the high bicarbs in his lung, thereby preserving his balanced blood ph. This was a good thing since it meant his kidneys were responding appropriately. His bicarbs were high because his potassium was low. His potassium was low because he had decreased G tube intake and increased G tube output. Well, we fixed the potassium, he is eating through his tube, he isn't dumping gastric fluid and his potassium is dead on normal. Why did his urine not normalize? Do you understand why this makes no sense to me?"
"Ok, let me get her on the phone"
He calls her on the phone and gives her a quick run down. That I needed more information on todays labs.
"Hello Mrs. Hernandez, what can I answer for you?"
"Hello Dr. X, actually what I need cleared up is why we waited here for Tomas' UA results; what were you expecting to see?'
"I was hoping to see a resolution on the urine alaklinity. The assumtion was his urine ph was high due to the high bicarbs, I was expecting to see that go down since we resolved his electrolyte imbalance. Since that didn't happen, we now need to look for another cause. The first step was to see if it self-resolved, which it did not. The second step is to see if this is due to medication. He is on two that can cause this issue, the more likely one being his Prevacid. My next step is to send him home on half the Prevacid dosage than he was taking before. If that doesn't bring his ph down to under 7.5 then I will have to investigate further into the kidney as a culprit, which I hope not to be the case."
"Ahh..that was the piece of the puzzle I was missing, thank you very much. I will need a new script for the Prevacid dose before we leave though."
"Don't you have one? I wrote for it in case the urine was unchanged."
"No I don't think the night team is aware of your orders."
"I am so terribly sorry, Mrs. Hernandez. Now I understand the confusion and why you needed to speak with me. I thought I had made myself understood at the team meeting this afternoon, but apparently not. May I speak with Dr. Senior Resident please."
"Of course, thank you Doctor and have a good evening."
The senior resident took the phone, walked out of the room listening the entire time, about 10 minutes later the NURSE came in with the script, discharge orders, and a great big hug telling me she was eavesdropping and cheerleading in the corner the entire time.
"It's 11pm"
"Uh, huh -Look, this morning I was told that Tomas' ph was high because his kidneys were dumping acid in order to offset the high bicarbs in his lung, thereby preserving his balanced blood ph. This was a good thing since it meant his kidneys were responding appropriately. His bicarbs were high because his potassium was low. His potassium was low because he had decreased G tube intake and increased G tube output. Well, we fixed the potassium, he is eating through his tube, he isn't dumping gastric fluid and his potassium is dead on normal. Why did his urine not normalize? Do you understand why this makes no sense to me?"
"Ok, let me get her on the phone"
He calls her on the phone and gives her a quick run down. That I needed more information on todays labs.
"Hello Mrs. Hernandez, what can I answer for you?"
"Hello Dr. X, actually what I need cleared up is why we waited here for Tomas' UA results; what were you expecting to see?'
"I was hoping to see a resolution on the urine alaklinity. The assumtion was his urine ph was high due to the high bicarbs, I was expecting to see that go down since we resolved his electrolyte imbalance. Since that didn't happen, we now need to look for another cause. The first step was to see if it self-resolved, which it did not. The second step is to see if this is due to medication. He is on two that can cause this issue, the more likely one being his Prevacid. My next step is to send him home on half the Prevacid dosage than he was taking before. If that doesn't bring his ph down to under 7.5 then I will have to investigate further into the kidney as a culprit, which I hope not to be the case."
"Ahh..that was the piece of the puzzle I was missing, thank you very much. I will need a new script for the Prevacid dose before we leave though."
"Don't you have one? I wrote for it in case the urine was unchanged."
"No I don't think the night team is aware of your orders."
"I am so terribly sorry, Mrs. Hernandez. Now I understand the confusion and why you needed to speak with me. I thought I had made myself understood at the team meeting this afternoon, but apparently not. May I speak with Dr. Senior Resident please."
"Of course, thank you Doctor and have a good evening."
The senior resident took the phone, walked out of the room listening the entire time, about 10 minutes later the NURSE came in with the script, discharge orders, and a great big hug telling me she was eavesdropping and cheerleading in the corner the entire time.
PART 2: A brief interruption on Tomas' biology; in which I make the resident doctor wake the attending at 11:00pm
Shortly after the resident left (and she did not come back) the night nurse walked in. I told her about the lab values and she said that made know sense; what she was told at shift change was they were waiting on an improvement in results before he could go home. That's what I took away from the morning rounds as well, so nice to know I am not yet certifiable.
Forty-five minutes later (now roughly 10pm) the senior resident walks in.
"So are you ready to go home?"
"What do you know about what is going on with Tomas?"
After a microscopic pause, "Well, that we were waiting on an EKG to get read, for TPN to be delvered to your home, and for the results of the urinalysis. I'm sorry that all took so long."
"The TPN was delivered around 5, the EKG was confirmed already read at 6, and the rest of this time we have been waiting to see what the results of the UA were, why?"
"We wanted to make sure he wasn't getting any worse."
"That is not at all my understanding of what the doctor ordered. She told me this morning that she wanted to make sure his lab values were trending down and that he was getting better before she let him go."
"Well, someitmes the lab values aren't perfect and they can be off a little here and a little there and sometimes as much as by half a point."
I told a friend that this is like dealing with a used car salesman. You ask how many miles are on the car and they tell you about how great it handles.
"So if I understand you correctly, your lab - the one I trust to run my son's bloodwork isn't necessarily reliable? Not to mention the fact that if you are trying to make me think that, in fact, his urine ph could at this moment really be an 8.5, could it not also be a 9.5; or does the lab only make errors in one direction? What I need to understand and make sense of before I take my son home is why we waited all day to make sure this lab value was trending down. It is not, and aside from the passage of time nothing else has changed so why is it ok for him to go home. What is different."
"You've got me."
"Well, do I "got" everyone in the hospital? Is there not one person who can explain this to me?"
"I could go call the on-call nephrologist back and see what they say."
"I think that is a good idea."
and so exits player two. I have to go again - this time to go pick up my girls from day camp and watch their end of the week show. Be back for part three later. No news on this mornings labs yet.
Forty-five minutes later (now roughly 10pm) the senior resident walks in.
"So are you ready to go home?"
"What do you know about what is going on with Tomas?"
After a microscopic pause, "Well, that we were waiting on an EKG to get read, for TPN to be delvered to your home, and for the results of the urinalysis. I'm sorry that all took so long."
"The TPN was delivered around 5, the EKG was confirmed already read at 6, and the rest of this time we have been waiting to see what the results of the UA were, why?"
"We wanted to make sure he wasn't getting any worse."
"That is not at all my understanding of what the doctor ordered. She told me this morning that she wanted to make sure his lab values were trending down and that he was getting better before she let him go."
"Well, someitmes the lab values aren't perfect and they can be off a little here and a little there and sometimes as much as by half a point."
I told a friend that this is like dealing with a used car salesman. You ask how many miles are on the car and they tell you about how great it handles.
"So if I understand you correctly, your lab - the one I trust to run my son's bloodwork isn't necessarily reliable? Not to mention the fact that if you are trying to make me think that, in fact, his urine ph could at this moment really be an 8.5, could it not also be a 9.5; or does the lab only make errors in one direction? What I need to understand and make sense of before I take my son home is why we waited all day to make sure this lab value was trending down. It is not, and aside from the passage of time nothing else has changed so why is it ok for him to go home. What is different."
"You've got me."
"Well, do I "got" everyone in the hospital? Is there not one person who can explain this to me?"
"I could go call the on-call nephrologist back and see what they say."
"I think that is a good idea."
and so exits player two. I have to go again - this time to go pick up my girls from day camp and watch their end of the week show. Be back for part three later. No news on this mornings labs yet.
A brief interupption on Tomas' biology; in which I make the resident doctor wake the attending at 11:00pm
On Monday Tomas went in to his pediatrician for his routine lab work. I got a phone call later that day telling me his potassium was really low and they wanted repeat lab work the next day. On Tuesday I took him back and get a phone call a few hours later saying his values were still really low and he needed to be admitted.
I hang up the phone and push my "Admission: red alert" button. Lights flash, sirens blare. Childcare for the girls instantly appears, bags fly out completely packed from secret compartments in the walls, gas tanks fill up automatically, TPN bags and feeding pumps magically and compactly fling themselves into their respective backpacks then march in line along with everything else to settle themselves nicley in the trunk of the car.
A girl can dream can't she?
Anywho - a friend was able to keep the girls until Mike got home from work, and I not so magically or effortlessly did the rest. Get to ER...blah,blah,blah...red folder code 2 (code 1 is not breathing or bleeding to death and the red folder is for kids with issues)....just once couldn't we be a green folder code 4 maybe? Instant triage, reverse pressure room, labs, IV, bradycardia, stat EKG, blah, blah, blah. Potassium through an IV really burns and and so do I later when I find out they could have run it in with his TPN through the central line and have him not feel a thing.
Get moved upstairs at 2 in the morning, get a lesson on blood alkalinity and urine alkalinity and potassium and bicarbs and dear God when did I fall asleep and why is it already 6 am and someone else is trying to talk to me?
Wednesday was spent trying to stabilize him, but in true Tomas fashion he made them work for it. After two IV boluses and 1 G tube dose of potassium his levels are pretty close to normal so he is left alone. Now to figure out what happened. Could be this or this or that. I love this game, it follows me around like a shadow. A black death bringing, life sucking, spirit quelching shadow, but hey, at least I know how to play. GI says this, nephro says that, and eventually we have a plan for discharge and for maintenance and a way to keep him stable at home, but no idea what the hell happened in the first place.
Thursday morning comes and we are ready to leave. New TPN formula is sent to home insfusion and set to be delivered that afternoon. Appts. are made with pediatrician to check labs next day, new scripts are written, GI writes discharge orders and bags are packed. Not so, says nephrology. his urine PH was too high on Tuesday and Wednesday and we need to re-check it to make sure it is better before he can go home. Ok, get a urine bag on him and wait, and wait, and wait, because umm....I've said this 100 times - he hardly pees when the TPN isn't running. Finally, he did pee, urine gets sent off and @ 9pm the resident comes in.
Happy faced, because isn't it great that we get to go home, "Mrs. Hernandez, I'm just finalizing your son's paperwork and then you can go."
Me - "What about his urinalysis that we've been waiting on all day."
"It came back a little high, but nephro said he could go."
"What's a little high?"
"9"
"Well, what was it on Tuesday and yesterday."
"Also 9"
I have to stop here because she said that with the most serious and professional of faces. Like it made perfect sense. Like somehow the passage of 8 hours made a value of 9 go from being enough to keep my son in the hospital to being and acceptable value with which to go home.
"I don't understand how that can be since the whole reason we've hung out here all day was to make sure the urine ph was going down."
"Well, we talked to nephrology and the senior resident said it was ok for Tomas to go so I'll go get your paperwork."
"Why don't you go get your senior resident instead."
To be continued...have to take Tomas to pedi for labwork. I LOVE THIS GAME!
I hang up the phone and push my "Admission: red alert" button. Lights flash, sirens blare. Childcare for the girls instantly appears, bags fly out completely packed from secret compartments in the walls, gas tanks fill up automatically, TPN bags and feeding pumps magically and compactly fling themselves into their respective backpacks then march in line along with everything else to settle themselves nicley in the trunk of the car.
A girl can dream can't she?
Anywho - a friend was able to keep the girls until Mike got home from work, and I not so magically or effortlessly did the rest. Get to ER...blah,blah,blah...red folder code 2 (code 1 is not breathing or bleeding to death and the red folder is for kids with issues)....just once couldn't we be a green folder code 4 maybe? Instant triage, reverse pressure room, labs, IV, bradycardia, stat EKG, blah, blah, blah. Potassium through an IV really burns and and so do I later when I find out they could have run it in with his TPN through the central line and have him not feel a thing.
Get moved upstairs at 2 in the morning, get a lesson on blood alkalinity and urine alkalinity and potassium and bicarbs and dear God when did I fall asleep and why is it already 6 am and someone else is trying to talk to me?
Wednesday was spent trying to stabilize him, but in true Tomas fashion he made them work for it. After two IV boluses and 1 G tube dose of potassium his levels are pretty close to normal so he is left alone. Now to figure out what happened. Could be this or this or that. I love this game, it follows me around like a shadow. A black death bringing, life sucking, spirit quelching shadow, but hey, at least I know how to play. GI says this, nephro says that, and eventually we have a plan for discharge and for maintenance and a way to keep him stable at home, but no idea what the hell happened in the first place.
Thursday morning comes and we are ready to leave. New TPN formula is sent to home insfusion and set to be delivered that afternoon. Appts. are made with pediatrician to check labs next day, new scripts are written, GI writes discharge orders and bags are packed. Not so, says nephrology. his urine PH was too high on Tuesday and Wednesday and we need to re-check it to make sure it is better before he can go home. Ok, get a urine bag on him and wait, and wait, and wait, because umm....I've said this 100 times - he hardly pees when the TPN isn't running. Finally, he did pee, urine gets sent off and @ 9pm the resident comes in.
Happy faced, because isn't it great that we get to go home, "Mrs. Hernandez, I'm just finalizing your son's paperwork and then you can go."
Me - "What about his urinalysis that we've been waiting on all day."
"It came back a little high, but nephro said he could go."
"What's a little high?"
"9"
"Well, what was it on Tuesday and yesterday."
"Also 9"
I have to stop here because she said that with the most serious and professional of faces. Like it made perfect sense. Like somehow the passage of 8 hours made a value of 9 go from being enough to keep my son in the hospital to being and acceptable value with which to go home.
"I don't understand how that can be since the whole reason we've hung out here all day was to make sure the urine ph was going down."
"Well, we talked to nephrology and the senior resident said it was ok for Tomas to go so I'll go get your paperwork."
"Why don't you go get your senior resident instead."
To be continued...have to take Tomas to pedi for labwork. I LOVE THIS GAME!
Monday, July 23, 2012
The big players; part 2 - endocrine/metabolics; tomato/tomahto
This is a mixed bag because he has two endocrine issues, well sort of. The first one, which is definitely endocrine, is hypothyroidism. Tomas has congenital hypothyroidism. meaning he failed his newborn screen and has been on replacement hormone (Synthroid) since NICU.
At his last appointment I told his enocrinologist that during an inpatient stay the rounding team had mentioned that when a child turns 3 they like to trial them off of Synthroid and see what happens. That sometimes it is not a true congenital issue and the children do just fine on there own. She said while that is true, Tomas' levels are normal on the Synthroid (meaning he is not getting too much), he is on a fairly large dose for someone his size, she increased it not that long ago because the smaller dose wasn't sufficent, and that it was discovered during his newborn screen - so truly was congenital. Ok, I tried, but it really isn't that big of a deal, just make sure he gets his meds and like I said his levels are stable.
This would've gone in the minor catagory if there wasn't another endocrine issue to write along with it. Well, maybe it is an endocrine issue and maybe it isn't. The metabolics team says it is; the endocrine team says it isn't. It is the bad boy Hypoglycemia (low blood sugar). Everyone else (all the other docs) think it is metabolic as well, but since I don't know where else to put it, here it stays. And until recently it was the single most urgent issue we dealt with.
If Tomas fasts for more than 4 hours his blood sugar starts to drop. That doesn't sound too bad, right? Most of us eat something at least every 4 hours, right? Nope we don't - we go to sleep, prayerfully for a lot longer than just 4 hours. Plus, if we had to skip a meal we could. Typically a toddler can go at least 18 hours without getting sick from not eating (hungry yes, sick no). Tomas can't. His body is either running out of sugar stores or unable to use them. He begins to make ketones as an alternative fuel source, but doesn't use those effectively either. They build up in his bloodstream, and since they are an acid, if enough time passes without intervention his blood ph changes and he goes into a state called metabolic acidosis. Without intervention this could be fatal.
Notice all the "without interventions" in there. For the first year and half of his life Tomas never fasted, he was always continuously fed. Remember he had his feeding tube since he was born. There was a brief 2 week period where I was able to nurse him (when he was a month old) but even then he was nursing through the night. So up until the spring of 2010 he had never gone more than approximately 2 hours without food.
One night that spring his feeding tube came out, the entire button dislodged from his stomach. I was exhausted and could not bear the the thought of driving to ER in the middle of the night. So I put in another tube, but not one that fed into his intestines - just his stomach. Because I didn't think his stomach could handle his regular formula I just ran pedialyte until morning. That was when we found out about the hypoglycemia, and I found out pedialyte doesn't have nearly as much sugar as one would think. By the time I got him to ER he was lethargic and unresponsive; a rag doll. His blood sugar was dangerously low, and thus began another road of test after test after test.
To date no specific reason has been found for the hypoglycemia. He has had 4 fasting studies done and during all of them his endocrine response (in the way of cortisol and insulin levels) have been perfect. Which is why endocrine insists it is not their problem. Also during all 4 he has had various levels of ketones in his blood and urine, sometime high enough to change his blood ph, which is why everyone thinks it is a metabolic condition. Not so says his metabolic doctor - because the ratios of blood/urine ketones are not consistant she thinks it is due to a hyperinsulin response - except - not once has his insulin level been high - so kind of hard to buy that theory.
After going round and round between the two clinics, after 2 hypoglycemic seizures, and after countless phone calls from me to the GI doctor (because he is in charge of Tomas' nutritional state) telling him that Tomas' blood sugar was really low again, that doctor had pretty much had it. He started Tomas on the gold standard for metabolic hypoglycemia - cornstarch.
Yup, your grandmother's Argo cornstarch is simply magic. Not only can it make a kick ass gravy, but it can keep a kid out of a coma. The reason the hypoglycemia was such a problem for me as his caregiver was that because of liver issues (another post) Tomas' TPN only ran for 17 hours, leaving a 7 hour gap without a steady stream of sugar. 7 is definitely more than 4. How to compensate? Well, mostly with G feeds (formula into his tummy). Unfortunately, most of the time he wasn't tolerating enough volume at a fast enough rate to keep his blood sugars stable, and some days he simply couldn't take anything in at all (another post). This left me or his nurse scrambling to get sugar into him somehow. Sometimes we'd try orange juice, but if he can't take formula orange juice usually didn't sit so well either, and other times pedialyte mixed with sugar. Finally, the GI doctor ordered IV sugar water (D10) for us to run during the TPN down time when his sugars started to drop. That worked great unless the central line wasn't working. And if you are on FB you know his central line stopped working a lot. Then it became urgent to get to the hospital and get a regular old IV started. So, after one too many hypoglycemic episodes the GI trumped the metabolics doctor and started the cornstarch therapy. It gets mixed in with his regular formula twice a day. Cornstarch is a very long chain carbohydrate and therefor takes a long time for your body to break down, causing a steady stream of carbs (aka - sugar) to be released.
And the most amazing things happened. It worked - we were all so unsure of how his GI tract would handle having to digest something that required that much work. He still has days (and days and days) where he can't take anything in through his stomach, but the cornstarch has not made it any worse. His blood sugars went from being in the 40s at the 7 hour mark to being around 100. Just absolutely perfect. And another amazing thing happened - his liver enzymes normalized (another post), meaning that all the liver damage we were seeing, which we thought was from the TPN, was really from his body being in a metabolic crisis so often. Which brings me to the last miracle cornstarch brought about - GI and neurology are now convinced Tomas has a metabolic condition. I have no idea what the metabolics doctor would make of it as I have simply stopped going to her. But this was a major component in the "let's get a diagnosis" push that is now on the table, so for that I am very, very grateful.
At his last appointment I told his enocrinologist that during an inpatient stay the rounding team had mentioned that when a child turns 3 they like to trial them off of Synthroid and see what happens. That sometimes it is not a true congenital issue and the children do just fine on there own. She said while that is true, Tomas' levels are normal on the Synthroid (meaning he is not getting too much), he is on a fairly large dose for someone his size, she increased it not that long ago because the smaller dose wasn't sufficent, and that it was discovered during his newborn screen - so truly was congenital. Ok, I tried, but it really isn't that big of a deal, just make sure he gets his meds and like I said his levels are stable.
This would've gone in the minor catagory if there wasn't another endocrine issue to write along with it. Well, maybe it is an endocrine issue and maybe it isn't. The metabolics team says it is; the endocrine team says it isn't. It is the bad boy Hypoglycemia (low blood sugar). Everyone else (all the other docs) think it is metabolic as well, but since I don't know where else to put it, here it stays. And until recently it was the single most urgent issue we dealt with.
If Tomas fasts for more than 4 hours his blood sugar starts to drop. That doesn't sound too bad, right? Most of us eat something at least every 4 hours, right? Nope we don't - we go to sleep, prayerfully for a lot longer than just 4 hours. Plus, if we had to skip a meal we could. Typically a toddler can go at least 18 hours without getting sick from not eating (hungry yes, sick no). Tomas can't. His body is either running out of sugar stores or unable to use them. He begins to make ketones as an alternative fuel source, but doesn't use those effectively either. They build up in his bloodstream, and since they are an acid, if enough time passes without intervention his blood ph changes and he goes into a state called metabolic acidosis. Without intervention this could be fatal.
Notice all the "without interventions" in there. For the first year and half of his life Tomas never fasted, he was always continuously fed. Remember he had his feeding tube since he was born. There was a brief 2 week period where I was able to nurse him (when he was a month old) but even then he was nursing through the night. So up until the spring of 2010 he had never gone more than approximately 2 hours without food.
One night that spring his feeding tube came out, the entire button dislodged from his stomach. I was exhausted and could not bear the the thought of driving to ER in the middle of the night. So I put in another tube, but not one that fed into his intestines - just his stomach. Because I didn't think his stomach could handle his regular formula I just ran pedialyte until morning. That was when we found out about the hypoglycemia, and I found out pedialyte doesn't have nearly as much sugar as one would think. By the time I got him to ER he was lethargic and unresponsive; a rag doll. His blood sugar was dangerously low, and thus began another road of test after test after test.
To date no specific reason has been found for the hypoglycemia. He has had 4 fasting studies done and during all of them his endocrine response (in the way of cortisol and insulin levels) have been perfect. Which is why endocrine insists it is not their problem. Also during all 4 he has had various levels of ketones in his blood and urine, sometime high enough to change his blood ph, which is why everyone thinks it is a metabolic condition. Not so says his metabolic doctor - because the ratios of blood/urine ketones are not consistant she thinks it is due to a hyperinsulin response - except - not once has his insulin level been high - so kind of hard to buy that theory.
After going round and round between the two clinics, after 2 hypoglycemic seizures, and after countless phone calls from me to the GI doctor (because he is in charge of Tomas' nutritional state) telling him that Tomas' blood sugar was really low again, that doctor had pretty much had it. He started Tomas on the gold standard for metabolic hypoglycemia - cornstarch.
Yup, your grandmother's Argo cornstarch is simply magic. Not only can it make a kick ass gravy, but it can keep a kid out of a coma. The reason the hypoglycemia was such a problem for me as his caregiver was that because of liver issues (another post) Tomas' TPN only ran for 17 hours, leaving a 7 hour gap without a steady stream of sugar. 7 is definitely more than 4. How to compensate? Well, mostly with G feeds (formula into his tummy). Unfortunately, most of the time he wasn't tolerating enough volume at a fast enough rate to keep his blood sugars stable, and some days he simply couldn't take anything in at all (another post). This left me or his nurse scrambling to get sugar into him somehow. Sometimes we'd try orange juice, but if he can't take formula orange juice usually didn't sit so well either, and other times pedialyte mixed with sugar. Finally, the GI doctor ordered IV sugar water (D10) for us to run during the TPN down time when his sugars started to drop. That worked great unless the central line wasn't working. And if you are on FB you know his central line stopped working a lot. Then it became urgent to get to the hospital and get a regular old IV started. So, after one too many hypoglycemic episodes the GI trumped the metabolics doctor and started the cornstarch therapy. It gets mixed in with his regular formula twice a day. Cornstarch is a very long chain carbohydrate and therefor takes a long time for your body to break down, causing a steady stream of carbs (aka - sugar) to be released.
And the most amazing things happened. It worked - we were all so unsure of how his GI tract would handle having to digest something that required that much work. He still has days (and days and days) where he can't take anything in through his stomach, but the cornstarch has not made it any worse. His blood sugars went from being in the 40s at the 7 hour mark to being around 100. Just absolutely perfect. And another amazing thing happened - his liver enzymes normalized (another post), meaning that all the liver damage we were seeing, which we thought was from the TPN, was really from his body being in a metabolic crisis so often. Which brings me to the last miracle cornstarch brought about - GI and neurology are now convinced Tomas has a metabolic condition. I have no idea what the metabolics doctor would make of it as I have simply stopped going to her. But this was a major component in the "let's get a diagnosis" push that is now on the table, so for that I am very, very grateful.
Sunday, July 22, 2012
The big players; part 1 - Blood
When Tomas was born he had something called Transient Myeloproliferative Disorder (TMD for short). It occurs in around 2% of DS babies, and significantly less in the general population. It is very similar to a leukemia in that the bone marrow produces blasts (immature white blood cells) in much to high a ratio and crowds out any room for other healthy cells (red and white blood cells and platelets). His platelets were dangerously low throughout his first month and he recieved many a transfusion to try to stabilize that situation. Sometimes it worked and sometimes it didn't. Finally, that cell line recovered and he was able to come home. Soon afterward his RBCs started to decline and he needed 5 transfusions of red blood cells before he was 4 months old. But, also, finally that stabilized as the TMD began to fade away.
For many months after that he was simply monitored by an oncologist to make sure the TMD stayed away and to watch out for signs that it might transition to a true leukemia, something that still has a 1 in 3 chance of happening. To date, though, his bone marrow is as healthy as can be and is producing the perfect amount of cells and in their respective proper ratios.
However, during this monitoring phase one particular type of white blood cell kept coming up low. His neutrophil count was sometimes very low, sometimes a little low, but rarely normal. He was given the diagnosis of Chronic Benign Neutropenia and underwent various test to determine the cause. None was found. His marrow produces the right amount, they just don't get to stay around. Initially, everyone thought it was an autoimmune disorder - his body killing off his own cells - but no evidence of this has been found.
Chronic Begnin Neutropenia is a misnomer of epic proportions. The begnin part simply means it is not part of a malignancy - he is not neutropenic due to cancer. His oncologist in Texas put it perfectly, "It should be called Chronic pain-in-the-patooty Neutropenia." Having very few neutrophils to fight of bacteria leaves a body mighty susceptible to illness. And that is what happened, respiratory infection after respiratory infection; antibiotic after antibiotic from the time he was around 6 months old until he was around 2 1/2.
Most of his hositalizations during that time were from respiratory distress, they were normally pretty quick stays since we just needed to get him stabilized and had all sorts of meds and equipment at home.
What changed at 2 1/2? He had his first central line placed. A port in order to run fluids during his intestinal shut downs (another post). We were warned that the risk for infection with an internal device was significantly higher than without, add neutropenia on top of it and you were sailing in dangerous waters indeed. But we had not much of a choice. At 2 Tomas weighed 26 pounds, by 2 1/2 he weighed 20, we were literally watching him waste away. So we went forward.
The best explanation I heard of why the infection risk is so high is this: we all have bacteria floating around in our bloodstream in small amounts, the stuff is everywhere. Normally, our bodies defences (the primary one being neutrophils) kill it off. Day in and day out this little war goes on in your (incredibly amazing) body. Putting something foreign in the bloodstream (like a port, or a catheter, or whatever else) gives that bacteria something to cling to instead of the free floating it normally does. This gives it the opportunity to colonize and grow. Couple that with an insufficient neutrophil reponse and you get the nightmare we now live. Bloodstream infection after bloodstream infection. He has had a central line for a year now and has had 12 infections. Most of them have been contained to just the central line itself - the bacteria hadn't "broke free" into his circulating blood yet. A few of them have done just that, and those are the times we nearly lost him. Which brings me to March of this year.
After his 10th infection his oncologist sat me in her office and told me that he couldn't continue to fight like this. That his GI doctor was very concerned over the number of infections Tomas was getting and that he wanted her to do something about it. Her dilemma was this, the only treatment for neutropenia is an injection of a growth colony stimulating factor hormone (GCSF for short). This hormone has been linked to not only stimulating neutrophils but also blasts. The blasts from leukemia? Yup, the same. Some patients who had taken Neupogen (brand name for GCSF) had developed leukemia. She had no idea what his risk factor would be given that he already had TMD, and already had a 33% chance of transitioning. There was no literature on it, we were in uncharted waters.
Again, our choice wasn't too tough. Watching him fight and fight all those infections and late-night wondering if the next one was going to be the one he couldn't come back from propelled us forward. So in mid-March he had another bone marrow biopsy to establish a baseline and he started the injections. Because the doctor is so concerned and very cautious she began with one injection weekly. Typical children get one a day. For 4 months we tracked his neutrophil count and the effect the injections were having. It would boost his count to normal on injection day and for several days afterward. By day 4 his count was back below normal, and usually down far enough to be in the danger zone.
A few weeks ago, after the UTI scare, the doctor asked me how I thought it was working. I told her things were a bit better, he had only 2 infections in 4 months, where before he was averaging one every 4-6 weeks. But I felt like the dip he took after day 4 left him vulnerable and also left the question unanswered. Was the neutropenia the cause of the high rate of line infections? I felt like as long as he was still in periods of moderate to severe neutropenia we weren't eliminating that as a variable. She agreed, and we started twice weekly injections with the goal of keeping him over the moderate cut off number (ANC of 1000 in case anyone knows). There is no way an ANC of 1000 would leave you at risk for sepsis, so as long as he stays above 1000 even if he does get an infection, we will know it is not because of his neutropenia. After a 6 month tracking period we'll evaluate how many infections he's had and then go from there. He was already getting a bone marrow biopsy every 6 months to monitor the TMD risk and that will suffice to monitor for the GCSF as well.
Also, squarely in the blood body system department is Tomas' anemia. After those intial blood transfusions as an infant his red blood cell count had been completely stable. He did have a severe iron deficiency anemia when his nutritional status went to pot and he lost all that weight (a chronic GI bleed didn't help either), but iron supplements were sufficient treatment. Then in September of last year his RBC count and hemoglobin levels started to drop. At first everyone thought it was because TPN doesn't contain iron and since he was getting very little formula he was just iron deficient again. Not so, his iron panels came back just fine. As is par for the course with my little enigma, no one knows why he is anemic. he shouldn't be, but he is. At this point his diagnosis is Anemia of Chronic Disease. He requires a transfusion about every 3 months (fascinating tidbit is that blood transfusions only last an average of 3 months). His levels jump nicely after the trasfusion and just slowly slide downhill until the next one. As you can imagine this messes with his energy level in big ways. Near the end of a transfusion period physical therapy is simply torure for him, and he pretty much just wants to hang out in his crib or on one of our laps and watch tv. After the transfusion, we get Mr. pink lips and rosy cheeks with tons of energy; only to watch the slow fade until next time.
I would be grossly remiss if I did not take the time now to thank blood donors from the bottom of my heart. My son has had 8 blood transfusions and several doses of IVIG (also a blood product). They have kept him alive. They have given him the chance to fight the rest. Without the tranfusions there would be no need for anything else. Thank you for the opportunity to take on the world.
For many months after that he was simply monitored by an oncologist to make sure the TMD stayed away and to watch out for signs that it might transition to a true leukemia, something that still has a 1 in 3 chance of happening. To date, though, his bone marrow is as healthy as can be and is producing the perfect amount of cells and in their respective proper ratios.
However, during this monitoring phase one particular type of white blood cell kept coming up low. His neutrophil count was sometimes very low, sometimes a little low, but rarely normal. He was given the diagnosis of Chronic Benign Neutropenia and underwent various test to determine the cause. None was found. His marrow produces the right amount, they just don't get to stay around. Initially, everyone thought it was an autoimmune disorder - his body killing off his own cells - but no evidence of this has been found.
Chronic Begnin Neutropenia is a misnomer of epic proportions. The begnin part simply means it is not part of a malignancy - he is not neutropenic due to cancer. His oncologist in Texas put it perfectly, "It should be called Chronic pain-in-the-patooty Neutropenia." Having very few neutrophils to fight of bacteria leaves a body mighty susceptible to illness. And that is what happened, respiratory infection after respiratory infection; antibiotic after antibiotic from the time he was around 6 months old until he was around 2 1/2.
Most of his hositalizations during that time were from respiratory distress, they were normally pretty quick stays since we just needed to get him stabilized and had all sorts of meds and equipment at home.
What changed at 2 1/2? He had his first central line placed. A port in order to run fluids during his intestinal shut downs (another post). We were warned that the risk for infection with an internal device was significantly higher than without, add neutropenia on top of it and you were sailing in dangerous waters indeed. But we had not much of a choice. At 2 Tomas weighed 26 pounds, by 2 1/2 he weighed 20, we were literally watching him waste away. So we went forward.
The best explanation I heard of why the infection risk is so high is this: we all have bacteria floating around in our bloodstream in small amounts, the stuff is everywhere. Normally, our bodies defences (the primary one being neutrophils) kill it off. Day in and day out this little war goes on in your (incredibly amazing) body. Putting something foreign in the bloodstream (like a port, or a catheter, or whatever else) gives that bacteria something to cling to instead of the free floating it normally does. This gives it the opportunity to colonize and grow. Couple that with an insufficient neutrophil reponse and you get the nightmare we now live. Bloodstream infection after bloodstream infection. He has had a central line for a year now and has had 12 infections. Most of them have been contained to just the central line itself - the bacteria hadn't "broke free" into his circulating blood yet. A few of them have done just that, and those are the times we nearly lost him. Which brings me to March of this year.
After his 10th infection his oncologist sat me in her office and told me that he couldn't continue to fight like this. That his GI doctor was very concerned over the number of infections Tomas was getting and that he wanted her to do something about it. Her dilemma was this, the only treatment for neutropenia is an injection of a growth colony stimulating factor hormone (GCSF for short). This hormone has been linked to not only stimulating neutrophils but also blasts. The blasts from leukemia? Yup, the same. Some patients who had taken Neupogen (brand name for GCSF) had developed leukemia. She had no idea what his risk factor would be given that he already had TMD, and already had a 33% chance of transitioning. There was no literature on it, we were in uncharted waters.
Again, our choice wasn't too tough. Watching him fight and fight all those infections and late-night wondering if the next one was going to be the one he couldn't come back from propelled us forward. So in mid-March he had another bone marrow biopsy to establish a baseline and he started the injections. Because the doctor is so concerned and very cautious she began with one injection weekly. Typical children get one a day. For 4 months we tracked his neutrophil count and the effect the injections were having. It would boost his count to normal on injection day and for several days afterward. By day 4 his count was back below normal, and usually down far enough to be in the danger zone.
A few weeks ago, after the UTI scare, the doctor asked me how I thought it was working. I told her things were a bit better, he had only 2 infections in 4 months, where before he was averaging one every 4-6 weeks. But I felt like the dip he took after day 4 left him vulnerable and also left the question unanswered. Was the neutropenia the cause of the high rate of line infections? I felt like as long as he was still in periods of moderate to severe neutropenia we weren't eliminating that as a variable. She agreed, and we started twice weekly injections with the goal of keeping him over the moderate cut off number (ANC of 1000 in case anyone knows). There is no way an ANC of 1000 would leave you at risk for sepsis, so as long as he stays above 1000 even if he does get an infection, we will know it is not because of his neutropenia. After a 6 month tracking period we'll evaluate how many infections he's had and then go from there. He was already getting a bone marrow biopsy every 6 months to monitor the TMD risk and that will suffice to monitor for the GCSF as well.
Also, squarely in the blood body system department is Tomas' anemia. After those intial blood transfusions as an infant his red blood cell count had been completely stable. He did have a severe iron deficiency anemia when his nutritional status went to pot and he lost all that weight (a chronic GI bleed didn't help either), but iron supplements were sufficient treatment. Then in September of last year his RBC count and hemoglobin levels started to drop. At first everyone thought it was because TPN doesn't contain iron and since he was getting very little formula he was just iron deficient again. Not so, his iron panels came back just fine. As is par for the course with my little enigma, no one knows why he is anemic. he shouldn't be, but he is. At this point his diagnosis is Anemia of Chronic Disease. He requires a transfusion about every 3 months (fascinating tidbit is that blood transfusions only last an average of 3 months). His levels jump nicely after the trasfusion and just slowly slide downhill until the next one. As you can imagine this messes with his energy level in big ways. Near the end of a transfusion period physical therapy is simply torure for him, and he pretty much just wants to hang out in his crib or on one of our laps and watch tv. After the transfusion, we get Mr. pink lips and rosy cheeks with tons of energy; only to watch the slow fade until next time.
I would be grossly remiss if I did not take the time now to thank blood donors from the bottom of my heart. My son has had 8 blood transfusions and several doses of IVIG (also a blood product). They have kept him alive. They have given him the chance to fight the rest. Without the tranfusions there would be no need for anything else. Thank you for the opportunity to take on the world.
Saturday, July 21, 2012
The systems
The following are affected: Brain, heart, lungs, liver, kidney/bladder, stomach/intestines, blood, and endocrine. I'll start with the minor ones and I think do a single post on each of the major issues.
Heart - Tomas was born with 3 holes in his heart. An open PDA and a VSD and ASD. The PDA closed on its own when he was around 4 months old, the VSD closed much later; but again - on its own. The ASD was open, then closed, then open, then closed, then open again. This last go round the doctor finally said he doesn't think it ever closed, but that it is so small it doesn't always show up on the echos. It requires no intervention and no medical precautions, and he only needs an echo for it once a year. He also has a right conduction delay which may or may not be from the ASD, or may or may not be from his metabolic disorder. All in all his heart was strong from the beginning and has remained so.
Lungs - He has chronic lung disease and various parts of his lungs are usually in some degree of collapse. Sounds terrible but he has learned to adapt and with the help of his vest therapy and meds manages along pretty darned well. He still gets pneumonia 2-3 times a year, and in February needed O2 support for the first time in months, but honestly on the whole his lungs are so much more stable than they were for the first 2 years. The only remaining scary issue is that when he gets sick, really sick, his lungs don't compensate anymore and he can crash hard on me, and scare the pants off whoever is around at the time. He was admitted in June for a nasty UTI which started as a fever spike. Because of his central line protocol I have to take him in to ER with any temp over 100.4. That day it hit 102.5. I decided to drive in, thinking I had enough time to get there, but was wrong. By the time I was about 5 mins out he started retching, his skin became that awful mottled shade of gray, and he had the rigors. We had immediate triage, assement, and then the director of the ER came in (after the ER docs went and got him). He said that Tomas looked like he was in septic shock and began talking about moving him to ICU and possibly intubating him. His breathing was that terrible. However, the ER team was awesome and had the IV antibiotics up and running in about 45 mins, not long by ER standards at all, and within an hour Tomas was sitting up and responsive. Point of the story being his lungs just don't keep up when he is really ill. (And from now on mommy will be taking the ambulance into the hospital)
Kidney/Bladder - He has had a few UTIs before this last one, and intermittently has hydronephrosis (a swelling of the kidneys due to fluid build up). Because he got so sick from this last UTI nephrology was brought back on board. They were brought on during infancy, he was dismissed, brought back on about a year ago, he was dismissed, but now they are here to stay. Tomas has some white spots in his kidneys that are not stones, but either crystals (kind of pre-stones) or scar tissue. He needs to be bladder/kidney infection free for 3 months in order to have a nuclear scan done on his kidneys to find out which. So, in the meantime he is on a prophylactic antibiotic and is taking sodium acetate to help keep his bi-carbs up and reduce the likelyhood of any new crystals.
Those 3 systems sort of fade in and out of play, or rather weave around other issues going on. The reason I would classify them as minor issues is that they don't really effect the day to day health or routine, and pretty much only become an issue during illness.
Heart - Tomas was born with 3 holes in his heart. An open PDA and a VSD and ASD. The PDA closed on its own when he was around 4 months old, the VSD closed much later; but again - on its own. The ASD was open, then closed, then open, then closed, then open again. This last go round the doctor finally said he doesn't think it ever closed, but that it is so small it doesn't always show up on the echos. It requires no intervention and no medical precautions, and he only needs an echo for it once a year. He also has a right conduction delay which may or may not be from the ASD, or may or may not be from his metabolic disorder. All in all his heart was strong from the beginning and has remained so.
Lungs - He has chronic lung disease and various parts of his lungs are usually in some degree of collapse. Sounds terrible but he has learned to adapt and with the help of his vest therapy and meds manages along pretty darned well. He still gets pneumonia 2-3 times a year, and in February needed O2 support for the first time in months, but honestly on the whole his lungs are so much more stable than they were for the first 2 years. The only remaining scary issue is that when he gets sick, really sick, his lungs don't compensate anymore and he can crash hard on me, and scare the pants off whoever is around at the time. He was admitted in June for a nasty UTI which started as a fever spike. Because of his central line protocol I have to take him in to ER with any temp over 100.4. That day it hit 102.5. I decided to drive in, thinking I had enough time to get there, but was wrong. By the time I was about 5 mins out he started retching, his skin became that awful mottled shade of gray, and he had the rigors. We had immediate triage, assement, and then the director of the ER came in (after the ER docs went and got him). He said that Tomas looked like he was in septic shock and began talking about moving him to ICU and possibly intubating him. His breathing was that terrible. However, the ER team was awesome and had the IV antibiotics up and running in about 45 mins, not long by ER standards at all, and within an hour Tomas was sitting up and responsive. Point of the story being his lungs just don't keep up when he is really ill. (And from now on mommy will be taking the ambulance into the hospital)
Kidney/Bladder - He has had a few UTIs before this last one, and intermittently has hydronephrosis (a swelling of the kidneys due to fluid build up). Because he got so sick from this last UTI nephrology was brought back on board. They were brought on during infancy, he was dismissed, brought back on about a year ago, he was dismissed, but now they are here to stay. Tomas has some white spots in his kidneys that are not stones, but either crystals (kind of pre-stones) or scar tissue. He needs to be bladder/kidney infection free for 3 months in order to have a nuclear scan done on his kidneys to find out which. So, in the meantime he is on a prophylactic antibiotic and is taking sodium acetate to help keep his bi-carbs up and reduce the likelyhood of any new crystals.
Those 3 systems sort of fade in and out of play, or rather weave around other issues going on. The reason I would classify them as minor issues is that they don't really effect the day to day health or routine, and pretty much only become an issue during illness.
Friday, July 20, 2012
Here I am
It has been a long time since I posted. A really long time. But things are changing here and there is no better way for me to organize my mind and make it easier to keep a large group of people up to date on what is happening than through my long lost blog. Over the next few days I'll post updates about various health issues Tomas is still dealing with and some new ones that have cropped up. To cheat a bit and put the cart before the horse; this story doesn't look like it will end my way. Today we learned it is unlikely Tomas will ever come off of TPN. That in and of itself is usually a life-shortening condition; combined with the other issues going on, well, like I said, not my way.
I would like a re-write but as of yet my editor doesn't agree. He is calling the shots and has set the form for the story. Oh, He is letting me use my own words and embellisments, letting my thoughts and desires scream from the pages, but the outline is still there; already written. My job is to show the world how beautiful His outline is.
And it is beautiful. It is also, thankfully, unrevealed. So while the realism of the place we are in is not lost on me, my only option is to continue on to see what He wrote.
I would like a re-write but as of yet my editor doesn't agree. He is calling the shots and has set the form for the story. Oh, He is letting me use my own words and embellisments, letting my thoughts and desires scream from the pages, but the outline is still there; already written. My job is to show the world how beautiful His outline is.
And it is beautiful. It is also, thankfully, unrevealed. So while the realism of the place we are in is not lost on me, my only option is to continue on to see what He wrote.
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