I just spoke with Pierce's geneticist to get some clarification on a few questions his neurologist had. The respiratory chain enzyme assay was completed. He plans on doing the mitochondrial DNA bloodwork in the future. Pierce does not have any Inborn Errors of Metabolism.
And the great news is that his medications are working! His ketones and amino acids are back within normal limits! Pierce's CoQ10 levels were lower than Dr. N wanted to see. His level was 271 and he wants to see it in the 300-400 range. He is fairly confident that it is most likely in that range as he upped Pierce's ubiquinol dose from 0.5cc to 1cc twice daily (back on March 7).
Yay for some great news :) I will take it however it comes in whatever amount - small or large!
As for Brice, his nuclear gastric imaging study has been moved to Tuesday morning. I was attempting to research what to expect with this particular test. While reading CHOP's website, I noted that they stated you cannot have an upper GI series 48 hours prior to nuclear gastric imaging. I had already placed a call to the imaging center to speak with a tech on what to expect. When they called me back, I explained to her what I read and she didn't feel it would interfere but said she would check with the radiologist just to be sure.... well, sure enough, it could cause inaccurate counts on certain images - (one point for me!) - they were able to squeeze him on Tuesday morning.
He has to be NPO for 6 hours prior to the study (including pain meds)... Here's the laughable part of all of this: Brice will eat a radioactive scrambled egg (made in a microwave)... he will have 10 minutes to consume it (not sure how that will go, especially due to his lack of appetite)... and here's the kicker, the ideal way to perform this test is for him to LAY STILL for 90 minutes! If {more like because} he cannot stay still, they will take images every 15 minutes. We will have a 2-2.5 hour break (while still NPO) at which point we will return to have another image taking at the 4 hour mark.
We will have his swallow study and upper GI series the following day.
His GI is out of the office all next week. I am hoping his partner will interpret the results so I can get some answers next week instead of having to wait. We will see :)
Wednesday, March 30, 2011
Neuro {Pierce} and GI {Brice} Updates...
Yesterday, I took Pierce to his neurologist. I really love her. She is very down to earth, has amazing bedside manner and truly cares about your concerns/thoughts. To me, those qualities make for a great doctor!
These were the major highlights of our appointment:
And for Brice... I called Dr. A yesterday and left a message regarding the great extremes we've gone to in getting him to take his medication. He called me back after 5pm. I told him that I couldn't get Brice to take his meds orally - in no form - at all. I also told him that Brice has been coughing/choking on things as simple as water, he's back to gagging himself again, and just seemingly very symptomatic for reflux. In addition, we're still hearing daily complaints about his belly pain. The following are the highlights of my conversation with Dr. A:
These were the major highlights of our appointment:
- Pierce's episodes are Breath Holding Spells. Dr. S stated that they start around 12-18 months old. It's not a temper tantrum. It is involuntary (just as fainting spells are). She said when he is letting out his cry, something in him forgets to tell him to breathe back in --- that's why he stops breathing, turns blue, goes limp, etc. I told her about him going stiff and twitching, she said can be considered normal... he can actually go into full-blown convulsions for up to 15 minutes before he would be placed on any sort of medication.
- If he were to convulse for more than 15 minutes or if he were to start having breath holding spells that were not triggered by crying, then he would be put on medication.
- There is a correlation between breath holding spells and epilepsy (which doesn't mean that because he has BHS, he will have and/or get epilepsy).
- We spoke about Pierce's muscle biopsy pathology report. She and the pathologist (from Texas Children's) go "way back."
- Dr. S asked if Dr. N (our geneticist) had ordered the quantitative respiratory chain enzyme assay. I told her no and she thinks it's important to do it. It needs to be done on the muscle tissue so hopefully they still have some of his tissue left.
- She thinks Dr. N needs to do the bloodwork on the mitochondrial DNA
- Dr. S asked if Dr. N ever said anything about Pierce having a fatty acid oxidation disorder. I told her no; she was curious if he had ever been tested for it - again, to my knowledge, he has not.
- She thought it was really interesting to see the statement "This patient shows markedly reduced expression of Dysferlin." - she said this was the third patient she's seen with that. Dr. S said she has no idea what it means and that it could mean something or it could mean nothing. She planned on emailing the pathologist and letting her know that Pierce was her patient and that this is now the third mito patient they've seen with the Dysferlin issue. She said they may publish the information so that it's out there.
And for Brice... I called Dr. A yesterday and left a message regarding the great extremes we've gone to in getting him to take his medication. He called me back after 5pm. I told him that I couldn't get Brice to take his meds orally - in no form - at all. I also told him that Brice has been coughing/choking on things as simple as water, he's back to gagging himself again, and just seemingly very symptomatic for reflux. In addition, we're still hearing daily complaints about his belly pain. The following are the highlights of my conversation with Dr. A:
- We can stop the antibiotics (sulfamethoxazole). While Brice's staph aureus counts are definitely abnormal (350,000+), he is not insanely abnormal (1,000,000+). He's comfortable, at the moment, with us discontinuing the medication.
- He is concerned about Brice coughing/choking on water. He wants a pharyngogram (swallow study) to be completed this week.
- In addition to the pharyngogram, he wants an upper GI series as well. Those will both be done at the same time.
- He is also concerned about possible gastroparesis (delayed gastric emptying). Dr. A is ordering nuclear gastric imaging to be done this week too.
- There is the possibility he may order an esophageal manometry to look for esophageal spasms. Our doctor does not do manometries. He thinks there is one doctor in our area that does it and there is a doctor at Texas Children's that does it as well.
- And with all of the above on the table, he also stated that he is not taking the idea of Brice's gallbladder off the table either. I am thinking that is more at the end of the list, but it's still on there.
- Dr. A wants all of this testing done this week. He will be out of town next week but his partner will be in and we have strict instructions to call if things start falling apart and/or deteriorating.
- *** Just got a phone call (10:30am) --- they are unable to schedule any of the testing for this week --- we will have his pharyngogram and upper GI series next Wednesday (4/6) and his nuclear gastric imaging on Thursday (4/7).
Saturday, March 26, 2011
staphylococcus aureus
Dr. A (GI doctor) called late yesterday afternoon. He received the results of the duodenum aspirate he performed on Brice. Dr. A said it's normal to find bacteria in the intestinal tract. But Brice has a staphylococcus aureus infection - the results showed a level over 350,000 (Dr. A said he wouldn't bat an eye at a level of 1000 - at times even 100,000 if the patient was asymptomatic). Brice was prescribed Sulfamethoxazole (2tsp twice daily) for the next two weeks. We have a follow-up scheduled for April 15.
If Brice is still complaining of belly pain after this dose of antibiotics, Dr. A plans on performing another endoscopy to confirm that the staph aureus infection was taken care of.
He is on a low-sugar diet for the next two weeks because this bacterium thrives on sugar (this is in addition to the low-acid diet he is presently on for GERD).
I have been trying to keep a list of questions to ask Dr. A at our next appointment. Hopefully I can get some answers then... :)
If you have some sort of magical way to get medicine in to your child, please share with me... just to let you know what we've tried:
NOTHING is working... if we get it into his mouth 90% of the time, he spits it back out (the other 10% of the time - it's because we've pinned him down and depressed the syringe at just the right time). I'm kind of at wits end with this and at the moment I cannot pin him down. I've somehow injured my left shoulder --- can't reach behind myself, can't pull my pants up, can't put my hair in a ponytail but I can reach in front of myself and I can still pink the kids up - thankfully! The pain is in my actual shoulder (think almost socket area but more towards the middle-front of my arm). It's VERY sharp and radiates down my arm all the while bringing me to tears (and I have a pretty high threshold for pain - I mean heck, I didn't take any pain medication after my c-sections!)
Thoughts? Advice? Contractual & payment terms for taking my place during medicine administration times ;) ha! I hope you have a great weekend!
If Brice is still complaining of belly pain after this dose of antibiotics, Dr. A plans on performing another endoscopy to confirm that the staph aureus infection was taken care of.
He is on a low-sugar diet for the next two weeks because this bacterium thrives on sugar (this is in addition to the low-acid diet he is presently on for GERD).
I have been trying to keep a list of questions to ask Dr. A at our next appointment. Hopefully I can get some answers then... :)
If you have some sort of magical way to get medicine in to your child, please share with me... just to let you know what we've tried:
- using a standard syringe (5mL)
- using a smaller syringe (1mL)
- using a medicine cup
- using a medicine spoon
- mixing it into applesauce
- mixing it into water
- administering small amounts over the course of 30 minutes
- pinning him down, waiting for him to scream and administering
- telling him his tummy will continue to hurt if he doesn't take his medicine
- telling him he may have to go to the hospital if he doesn't take it
- promising toys, crayons, stickers, etc
NOTHING is working... if we get it into his mouth 90% of the time, he spits it back out (the other 10% of the time - it's because we've pinned him down and depressed the syringe at just the right time). I'm kind of at wits end with this and at the moment I cannot pin him down. I've somehow injured my left shoulder --- can't reach behind myself, can't pull my pants up, can't put my hair in a ponytail but I can reach in front of myself and I can still pink the kids up - thankfully! The pain is in my actual shoulder (think almost socket area but more towards the middle-front of my arm). It's VERY sharp and radiates down my arm all the while bringing me to tears (and I have a pretty high threshold for pain - I mean heck, I didn't take any pain medication after my c-sections!)
Thoughts? Advice? Contractual & payment terms for taking my place during medicine administration times ;) ha! I hope you have a great weekend!
Thursday, March 24, 2011
Wednesday, March 23, 2011
disappointed
{I've gone back and forth on posting this but I feel like a) it may make me feel better and b) it's my blog.}
My eyes have been opened, in regards to certain relationships I have with some friends and some family members. I mean really how much time does it take today to make a phone call... or at the very least, send out a quick text message... or heck, even post on Facebook?!
I have undoubtedly had some big things go on with my children lately. The people I expected to reach out to us didn't. And this isn't the first time. I am hurt... very hurt. And I am quite truthfully ready to wash my hands of them. I know that isn't the right thing to do. I have friends that I have met through social networking sites that have done more for me than some of my supposedly close IRL friends and family members. Those same friends texted, tweeted, Fb'ed to check on my children during recent and past surgeries and after we've received not-so-great news.
I wish I could ask them "why" --- why can't you make an effort?You clearly had time to wish "Happy Birthday" to your baby's daddy's brother's girlfriend but no time to check on my baby - my baby that I would give my life for... My baby that, if I could, I would take his pain and it could be multiplied by ten if it meant he would no longer feel it... My baby that I have to hand off to strangers to go into a sterile, strange room and fight being put to sleep under a mask... all the while he has no idea why I have handed him off and why he is being forced to sleep... My baby that has a lifelong, 'incurable' illness that could potentially cause him to regress at any point in time... My baby that is up at night crying out in pain... My baby that has been radiated more times than I care to really even think about... My baby that has had more procedures, tests, pokes, pricks, blood-draws, x-rays, hospital time, etc than most adults have experienced... My baby that has been suffering from such severe reflux that it caused a hiatal hernia... no, you clearly don't have time. Moving on from the fact that you don't have time for my babies, you also don't have time for me. You don't call to see how I am doing... how I am doing on the days where I feel like if one more thing happens, medically, with my children, that may be the day where I just completely break down... how I am doing on the days where I receive life-altering news (like the kind that yes, your child has a chronic illness)... how I am doing on the days where I've spent the entire day at the hospital running between doctor appointments and having tests sprung on us... how I am doing on the days I've sat alone at a hospital because my husband just couldn't take any more time off of work and my baby was under general anesthesia... how I am doing when I have to administer 2 medications twice daily to one child and 5 medications twice daily to the other child and one of my kids just flat refuses medication and I have to pin him down while I am getting kicked in the chest and my heart is breaking while watching my baby fight the way he does... how am I doing when I can't seem to focus because all of everything I am dealing with seems extremely overwhelming to you, but how do you think it feels for me, the one actually living it or worse... how am I doing when you don't even acknowledge that what I am going through seems like a lot to deal with...
Here's the thing... my children are my life. I breathe each breath for them. I would give my last breath for them. I want nothing more in my life to see them happy & healthy. I love them with every fiber of my being. It's a love I cannot adequately put into words. Every time I see them, it's like watching a true piece of my heart walking outside of my body. I want to protect them. I want to honor them. I want to do all that I can do for them. I want to save them.
All I want is for you to act like you care... just make an effort. It's not too much to ask... or is it?
I don't want anyone's sympathy. I don't want any pity. I just needed to voice how I felt. I needed to get it off my chest. It's a hot rock I've been carrying that's burned the heck out of me. And to those who care and have called, texted, FB'ed, tweeted,etc.... thank you. Thank you for showing us that you care. Thank you for everything.
seriously kid... quit testing my heart
When Pierce was 8 weeks old and hospitalized (for pneumonia), he had a few "breath holding spells" where he would silently cry and turn bluish in the lips (particularly when he was in pain - like getting a new IV). Since then he has had them on and off. Recently, they seem to have become worse.
Since Friday (3/18) he has had 3 of them that have resulted in his lips turning completely blue with the rest of his face taking on a bluish-purple hue, going limp in my arms with his arms and legs sporadically twitching. On Friday, when it first happened at this degree, I laid him on his back on the couch and continually blew in his face while tapping his feet. He began breathing again but was extremely pale after the fact. It happened again on Sunday while my mother was watching him. And today, about 2 hours ago --- this morning's episode was a bit worse. He was sitting on the floor in the kitchen when it started. I glanced down at him because I heard his head hit the floor. He was laying on his stomach, with his arms and legs twitching, his body was stiff - almost seizure like. I picked him up, he was blue in his lips and he went limp - I blew fairly forcefully into his face and he gasped. He remained very pale for about an hour after.
I am not sure if I should be concerned. I don't know if this is standard for "breath holding spells." Could this be interrelated to the odd breathing noise he makes upon inspiration (a deep, sometimes raspy, noise - not high-pitched - some have described it as though he is gasping)?
He's had a normal echocardiogram. They were unable to complete the EKG because he wouldn't cooperate. And he's also had a normal EEG.
It's frightening as all hell to witness... and I am tired - physically and mentally.
I was up from 2:30-3:00am with Brice because his stomach was hurting. If only he wasn't so difficult in taking his medication (Carafate) - but truthfully, my MIL told me it's absolutely disgusting (she took it before) - so I was up rocking him, comforting him, telling him everything would be okay... and finally, it worked - he fell back to sleep. I should probably mention that he is having a tough time going down at night. He used to go to bed around 7pm and fall asleep by 7:30pm. Nowadays, we put him to bed around 7:30pm and he is wide awake (escaping from his room and all) until typically 10pm. Is this him just being a toddler? I don't know how to fix it.... any suggestions?
Since Friday (3/18) he has had 3 of them that have resulted in his lips turning completely blue with the rest of his face taking on a bluish-purple hue, going limp in my arms with his arms and legs sporadically twitching. On Friday, when it first happened at this degree, I laid him on his back on the couch and continually blew in his face while tapping his feet. He began breathing again but was extremely pale after the fact. It happened again on Sunday while my mother was watching him. And today, about 2 hours ago --- this morning's episode was a bit worse. He was sitting on the floor in the kitchen when it started. I glanced down at him because I heard his head hit the floor. He was laying on his stomach, with his arms and legs twitching, his body was stiff - almost seizure like. I picked him up, he was blue in his lips and he went limp - I blew fairly forcefully into his face and he gasped. He remained very pale for about an hour after.
I am not sure if I should be concerned. I don't know if this is standard for "breath holding spells." Could this be interrelated to the odd breathing noise he makes upon inspiration (a deep, sometimes raspy, noise - not high-pitched - some have described it as though he is gasping)?
He's had a normal echocardiogram. They were unable to complete the EKG because he wouldn't cooperate. And he's also had a normal EEG.
It's frightening as all hell to witness... and I am tired - physically and mentally.
I was up from 2:30-3:00am with Brice because his stomach was hurting. If only he wasn't so difficult in taking his medication (Carafate) - but truthfully, my MIL told me it's absolutely disgusting (she took it before) - so I was up rocking him, comforting him, telling him everything would be okay... and finally, it worked - he fell back to sleep. I should probably mention that he is having a tough time going down at night. He used to go to bed around 7pm and fall asleep by 7:30pm. Nowadays, we put him to bed around 7:30pm and he is wide awake (escaping from his room and all) until typically 10pm. Is this him just being a toddler? I don't know how to fix it.... any suggestions?
Friday, March 18, 2011
{mother's} intuition
Some of you may or may not believe in mother's intuition... I definitely believe in it.
I will never forget the day. I was just shy of 12 weeks pregnant with Pierce. I couldn't shake this feeling that something was wrong with the baby (because at that point, I didn't know gender). I told my doctor and we decided to do an NT scan and the AFP (Quad Screen).
After expressing my concerns and deciding to move forward with the testing, I remember Dr. Robichaux looking me in the eyes and saying "Remember, God's blessings are never ending."
Everything came back normal... but who would have ever thought that my maternal intuition would have been kicking in that early? Pierce's problems didn't start until after his birth. And shortly after he turned one, we were finally given a diagnosis that explained every single issue.
God's blessings really are never ending.
{On another note: Brice's biopsies from his EGD were NORMAL!}
I will never forget the day. I was just shy of 12 weeks pregnant with Pierce. I couldn't shake this feeling that something was wrong with the baby (because at that point, I didn't know gender). I told my doctor and we decided to do an NT scan and the AFP (Quad Screen).
After expressing my concerns and deciding to move forward with the testing, I remember Dr. Robichaux looking me in the eyes and saying "Remember, God's blessings are never ending."
Everything came back normal... but who would have ever thought that my maternal intuition would have been kicking in that early? Pierce's problems didn't start until after his birth. And shortly after he turned one, we were finally given a diagnosis that explained every single issue.
God's blessings really are never ending.
{On another note: Brice's biopsies from his EGD were NORMAL!}
Wednesday, March 16, 2011
Little Man
I want to start this post off with exciting news especially since the last few posts have been not-so-exciting)...
LITTLE MAN IS WALKING!
He is now non-stop motion... always busy... very independent... into EVERYTHING... a giggling, walking and talking machine! He says: daddy, mommy, Duke, Neo, dog, night-night, go, out, down, up, uh-oh, duck, cow, moo, quack, and more. He LOVES to dance and to be outside. We are SO proud of how far he has come :)
For some so-so news...
When we saw Dr. A (the boys GI doctor) a week ago for Big Man, I brought Little Man's muscle biopsy report. He read over it and we discussed it. I told him that we felt like we were in limbo, as in "Does he or doesn't he have a mito disease?"... and the million dollar question has FINALLY been answered... YES, he does.
Dr. A stated that Little Man doesn't fall into a particular complex (or category) according to the pathology report (which we knew). He stated that the complexes are helpful in predicting the future. Little Man's case is mild and unique. He stated that LM's biggest hurdles will be stamina and fatigue. We are hoping that LM's medications will help to prevent in his disease furthering. As for the future and what to expect, only time will tell.
We are happy to have a concrete answer.
LITTLE MAN IS WALKING!
He is now non-stop motion... always busy... very independent... into EVERYTHING... a giggling, walking and talking machine! He says: daddy, mommy, Duke, Neo, dog, night-night, go, out, down, up, uh-oh, duck, cow, moo, quack, and more. He LOVES to dance and to be outside. We are SO proud of how far he has come :)
For some so-so news...
When we saw Dr. A (the boys GI doctor) a week ago for Big Man, I brought Little Man's muscle biopsy report. He read over it and we discussed it. I told him that we felt like we were in limbo, as in "Does he or doesn't he have a mito disease?"... and the million dollar question has FINALLY been answered... YES, he does.
Dr. A stated that Little Man doesn't fall into a particular complex (or category) according to the pathology report (which we knew). He stated that the complexes are helpful in predicting the future. Little Man's case is mild and unique. He stated that LM's biggest hurdles will be stamina and fatigue. We are hoping that LM's medications will help to prevent in his disease furthering. As for the future and what to expect, only time will tell.
We are happy to have a concrete answer.
Tuesday, March 15, 2011
Big Man's Endoscopy
On Friday, we had Big Man's GI follow-up. All of his stool studies and bloodwork results came back either normal or negative. Dr. A decided to up B's Prevacid to 15mg BID (2x/day) and prescribed Levsin as needed for pain. The game plan was to call him this coming Friday (3/18) and let him know how B's pain levels were. If we couldn't get things under control, Dr. A would do an endoscopy (EGD) at some point in the following 2 weeks. Well B had a different plan of his own.
Sunday night was pure misery in our home. He was up all night coughing and gagging and crying. In addition, he was having a tough time swallowing and kept doing a hard swallow noise. He would sleep in 15-20 minute spurts. We had him in bed with us and we didn't fall asleep until just after 4am. I called Dr. A's office to let them know and within 30 minutes they called back asking us to go in for 1:30pm.
We saw Dr. A, re-explained what happened the previous night and he decided he wanted to move forward with the EGD immediately. He also ordered a pharyngogram (aka VFSS/Swallow Study) and Upper GI Series. He normally does his EGDs on Thursday but he moved some things around and booked B for today at 12pm.
I was worried this morning as to how things would play out. I mean really... how would you feel about having to keep your 2.5 year old NPO until 12pm. I don't think I slept too well last night. We hid as much food as possible. Thankfully he was able to have clear fluids until 8am - so we gave him a bottle of water and he was pretty happy... until we had to take it away... and then he wasn't.
We arrived at OLOL and B slept in my arms while we waited to be taken to his pre-op room. The staff at OLOL is fabulous and beyond accommodating. We did the usual vitals, weight, change into a gown etc. I asked if I could walk with B to the OR and they said YES! They gave me a scrub gown. I was able to hold my baby in my arms, walk into the OR with him, place him on the bed, hold him and kiss him and tell him how much I loved him while they put him to sleep. He wasn't thrilled. He was screaming under the gas mask and looking up at me with the most heart-breaking how-could-you-let-them-do-this-to-me eyes. It took every fiber of my being to keep it together. Once he was asleep, I went into the waiting room. His procedure started at 12:11pm and when 12:33 rolled around I began to get a little nervous. An EGD takes 15 minutes from start to finish (scope in to scope out). At 12:36, the board changed to "closing" and 1 minute after that I was escorted to a family conference room.
I {im}patiently waited for Dr. A --- since yesterday, I have been praying that we would get an answer as to why our baby has been in pain for quite some time. My brain really wanted an answer. My heart on the other hand didn't. As much as I wanted Dr. A to see something, to give us a reason... my heart didn't. Because if Dr. A saw something, then something really was wrong. And he did... he saw a hiatal hernia. Dr. A is 80% positive it was caused by GERD. He said B needs a nissen fundoplication and possibly hernia repair. Dr. A said the nissen could possibly fix the hernia but if the pediatric surgeon felt it necessary, they could repair the hernia as well.
He also took a few biopsies (standard with an EGD). He anticipates seeing mild esophagitis. He noted fluid in his small intestines and removed some for a duodenum aspirate. We will have the biopsies back on Friday and the aspirate takes 1-2 weeks. He switched B to Nexium 20mg BID (2x/day) - he said that Nexium is marginally better for acid suppression. He also prescribed Carafate.
Pending the biopsy results and if the Nexium works well enough to control his stomach pain from his reflux, we are safe waiting until he is around 3 or even a little older to perform the Nissen. In the end, a nissen is definitely inevitable.
B was happy to see me in recovery. I held him and he fell asleep on my chest. We were taken to another recovery area where things got a little yucky. They offered him grape juice in both recovery areas. B vomited twice - like projectile-hitting-the-wall - everywhere. He was complaining of tummy pain quite a bit. We were discharged at 3pm. I gave him some Tylenol around 5:45pm in an attempt to get his pain under control. G and I went to the pharmacy to get his new Rx's and a smoothie for our boy. When we got home, he was doing much better.
We're letting him stay up a bit later tonight since he slept so much today. He is sitting next to me on the couch, getting a breathing treatment (he's wheezing) and watching Toy Story 3. I'm off to love on my big boy... goodnight.
Sunday night was pure misery in our home. He was up all night coughing and gagging and crying. In addition, he was having a tough time swallowing and kept doing a hard swallow noise. He would sleep in 15-20 minute spurts. We had him in bed with us and we didn't fall asleep until just after 4am. I called Dr. A's office to let them know and within 30 minutes they called back asking us to go in for 1:30pm.
We saw Dr. A, re-explained what happened the previous night and he decided he wanted to move forward with the EGD immediately. He also ordered a pharyngogram (aka VFSS/Swallow Study) and Upper GI Series. He normally does his EGDs on Thursday but he moved some things around and booked B for today at 12pm.
I was worried this morning as to how things would play out. I mean really... how would you feel about having to keep your 2.5 year old NPO until 12pm. I don't think I slept too well last night. We hid as much food as possible. Thankfully he was able to have clear fluids until 8am - so we gave him a bottle of water and he was pretty happy... until we had to take it away... and then he wasn't.
We arrived at OLOL and B slept in my arms while we waited to be taken to his pre-op room. The staff at OLOL is fabulous and beyond accommodating. We did the usual vitals, weight, change into a gown etc. I asked if I could walk with B to the OR and they said YES! They gave me a scrub gown. I was able to hold my baby in my arms, walk into the OR with him, place him on the bed, hold him and kiss him and tell him how much I loved him while they put him to sleep. He wasn't thrilled. He was screaming under the gas mask and looking up at me with the most heart-breaking how-could-you-let-them-do-this-to-me eyes. It took every fiber of my being to keep it together. Once he was asleep, I went into the waiting room. His procedure started at 12:11pm and when 12:33 rolled around I began to get a little nervous. An EGD takes 15 minutes from start to finish (scope in to scope out). At 12:36, the board changed to "closing" and 1 minute after that I was escorted to a family conference room.
I {im}patiently waited for Dr. A --- since yesterday, I have been praying that we would get an answer as to why our baby has been in pain for quite some time. My brain really wanted an answer. My heart on the other hand didn't. As much as I wanted Dr. A to see something, to give us a reason... my heart didn't. Because if Dr. A saw something, then something really was wrong. And he did... he saw a hiatal hernia. Dr. A is 80% positive it was caused by GERD. He said B needs a nissen fundoplication and possibly hernia repair. Dr. A said the nissen could possibly fix the hernia but if the pediatric surgeon felt it necessary, they could repair the hernia as well.
He also took a few biopsies (standard with an EGD). He anticipates seeing mild esophagitis. He noted fluid in his small intestines and removed some for a duodenum aspirate. We will have the biopsies back on Friday and the aspirate takes 1-2 weeks. He switched B to Nexium 20mg BID (2x/day) - he said that Nexium is marginally better for acid suppression. He also prescribed Carafate.
Pending the biopsy results and if the Nexium works well enough to control his stomach pain from his reflux, we are safe waiting until he is around 3 or even a little older to perform the Nissen. In the end, a nissen is definitely inevitable.
B was happy to see me in recovery. I held him and he fell asleep on my chest. We were taken to another recovery area where things got a little yucky. They offered him grape juice in both recovery areas. B vomited twice - like projectile-hitting-the-wall - everywhere. He was complaining of tummy pain quite a bit. We were discharged at 3pm. I gave him some Tylenol around 5:45pm in an attempt to get his pain under control. G and I went to the pharmacy to get his new Rx's and a smoothie for our boy. When we got home, he was doing much better.
We're letting him stay up a bit later tonight since he slept so much today. He is sitting next to me on the couch, getting a breathing treatment (he's wheezing) and watching Toy Story 3. I'm off to love on my big boy... goodnight.
Tuesday, March 8, 2011
Little Man's Biopsy
The first half of yesterday was an incredibly long day for my littlest man. But as always, he is such a trooper and makes me so proud to be his momma.
Let's get to what you probably want to know: What were his biopsy results? Does he have a mitochondrial disease? Where does it all go from here?
Biopsy Results:
FINAL DIAGNOSIS:
SKELETAL MUSCLE, RIGHT THIGH, BIOPSY:
A. Mild variation in fiber size and shape, with Type II fiber predominance
B. Few fibers with mild increase in subsarcolemmal oxidative activity on NADH-TR and Cytochrome C Oxidase
C. Rare megamitochondrion and mitochondrion with abnormal cristae pattern on electron microscopy
D. Few fibers with Z-Line streaming on electron microscopy
E. No evidence for a dystrophy
F. No Evidence for an inflammatory myopathy
Comment: A few fibers show mild increase in subsarcolemmal oxidative activty noted on NADH-TR and COX stains. There is a rare abnormally elongated mitochondrion and a mitochondrion with an abnormal cristae pattern seen on electron microscopy. These changes are suggestive of possible mitochondrial myopathy.
(1) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows variable regional reduced staining for Complexes I and III, vaiable focal reduced expression for Complex II and IV-IV, normal staining for Complexes IV-I and V of the Electron Trasport Chain, and normal staining for PDH-E1-ALPHA.
Correlation with Quantitative Respiratory Chain Enzyme Assay is recommended.
(2) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows markedly reduced expression of Dysferlin. ***
There is no evidence for Dystrophinopathy, Sarcoglycanopathy, or Merosinopathy. Alpha Dystroglycan, Lamin A/C, Emerin, Caveolin 3 and Calpain 3 are within normal limits.
*** geneticist said this could possibly be a marker for a dystrophy later in life
(3) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
Citrate Synthase activity is increased, suggesting mitochondrial proliferation. This may be an adaptive response to mitochondrial dysfunction. There are no deficiencies of respiratory chain activities detected before or after correction for CD activity. Mitochondrial electron transport chain disorders may be caused by molecular defects in nuclear or mitochondrial genes. Determining the mtDNA copy number may be informative.
Still with me??
Okay, so all of that to say, his biopsy is highly suggestive of a mitochondrial disease. He falls somwhere below 75% of his tissue area being affected. The sample of tissue much have 75% or more of the area affected to be firmly diagnosed through the biopsy alone.
As of today, he has still yet to be formally diagnosed as having a mitochondrial disease. But his geneticist repeated a few times that "his biopsy was highly suggestive and add in his past high organic acid bloodwork studies and his clinical symptoms"... he has added a new (otc) vitamin to Little Man's daily regimen and he upped the dosage on two other medications --- he is now taking Leucovorin, Levocarnitine, Ubiquinol, fish oil and alpha lipoic acid (<-- the new one)... all 2x daily at various dosings. As the biopsy results suggested, he also mentioned doing bloodwork to look at the DNA of the mitochondria but here's the problem... a lot of times insurance companies don't want to pay for this test because it's VERY EXPENSIVE. From my past experience with BCBS (our insurance company), I'm betting they fall into that category. We are to continue night time feedings with Little Man. We give him 3 ounces of (30 cal/oz) EleCare at midnight. Little Man is my peanut - you many not think so by looking at pictures but he is weighing in at 22lbs and is 29.9" tall --- just barely under 20th% for both. His head has grown... again. It's now 51cm... I don't really have a % for it but at 51cm it's the 95th% for a 24m/o and 80th% for a 36m/o... suffice to say, it's larger than it should be. But with that said, no further action other than watching it will be taken. Little Man hasn't lost any skills and he just had a normal MRI in November. He has had SO MUCH radiation since birth that we are opting against a CT scan as well.
He has also recommended us starting PT with Little Man as well. He is very strong in his upper body but his lower body could use some help. While he doesn't think it is an absolute necessity, he thinks it could definitely help Little Man.
I told him about my concerns with Little Man falling while he crawls and this weird noise he makes while breathing. It's a deep noise - some have described it as it sounding like he is gasping, but he isn't gasping. As for the falling, I can find no better way to describe it than everything goes out from under him and he falls face first into the ground. We met with the head of neurology yesterday and he ordered an EEG. It took about 30 minutes to the leads in place and 20 minutes for the EEG - it was normal (thankfully - we don't need another issue!).
We follow-up with our geneticist in 3 months.
Our geneticist said at times mitochondrial disease is like a virus in the world of genetics... meaning, in certain instances you have to diagnose on clinical symptoms alone. We knew going into the biopsy that we could possibly get a negative or inconclusive result back and he could still be diagnosed with a mitochondrial disease. We also knew, from our first meeting, that if Little Man had one, it was a mild/atypical form of one.
So for now, not much has changed. I feel like we are still in limbo. I am waiting to hear back from his geneticist as to whether or not he is being formally diagnosed. A part of me says "yes, he has this" since his biopsy was highly suggestive and seeing as how he is being treated for a mitochondrial disease.
Also - Big Man has a GI follow-up on Friday. He is still complaining of tummy pain. All of his stool studies and bloodwork results have come back either negative or normal. He has been prescribed Levsin as needed for stomach pain. I have a feeling an endoscopy is in his future. I will update when I know more :)
Let's get to what you probably want to know: What were his biopsy results? Does he have a mitochondrial disease? Where does it all go from here?
Biopsy Results:
FINAL DIAGNOSIS:
SKELETAL MUSCLE, RIGHT THIGH, BIOPSY:
A. Mild variation in fiber size and shape, with Type II fiber predominance
B. Few fibers with mild increase in subsarcolemmal oxidative activity on NADH-TR and Cytochrome C Oxidase
C. Rare megamitochondrion and mitochondrion with abnormal cristae pattern on electron microscopy
D. Few fibers with Z-Line streaming on electron microscopy
E. No evidence for a dystrophy
F. No Evidence for an inflammatory myopathy
Comment: A few fibers show mild increase in subsarcolemmal oxidative activty noted on NADH-TR and COX stains. There is a rare abnormally elongated mitochondrion and a mitochondrion with an abnormal cristae pattern seen on electron microscopy. These changes are suggestive of possible mitochondrial myopathy.
(1) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows variable regional reduced staining for Complexes I and III, vaiable focal reduced expression for Complex II and IV-IV, normal staining for Complexes IV-I and V of the Electron Trasport Chain, and normal staining for PDH-E1-ALPHA.
Correlation with Quantitative Respiratory Chain Enzyme Assay is recommended.
(2) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
This patient shows markedly reduced expression of Dysferlin. ***
There is no evidence for Dystrophinopathy, Sarcoglycanopathy, or Merosinopathy. Alpha Dystroglycan, Lamin A/C, Emerin, Caveolin 3 and Calpain 3 are within normal limits.
*** geneticist said this could possibly be a marker for a dystrophy later in life
(3) SUPPLEMENTAL SURGICAL PATHOLOGY REPORT:
INTERPRETATION:
Citrate Synthase activity is increased, suggesting mitochondrial proliferation. This may be an adaptive response to mitochondrial dysfunction. There are no deficiencies of respiratory chain activities detected before or after correction for CD activity. Mitochondrial electron transport chain disorders may be caused by molecular defects in nuclear or mitochondrial genes. Determining the mtDNA copy number may be informative.
Still with me??
Okay, so all of that to say, his biopsy is highly suggestive of a mitochondrial disease. He falls somwhere below 75% of his tissue area being affected. The sample of tissue much have 75% or more of the area affected to be firmly diagnosed through the biopsy alone.
As of today, he has still yet to be formally diagnosed as having a mitochondrial disease. But his geneticist repeated a few times that "his biopsy was highly suggestive and add in his past high organic acid bloodwork studies and his clinical symptoms"... he has added a new (otc) vitamin to Little Man's daily regimen and he upped the dosage on two other medications --- he is now taking Leucovorin, Levocarnitine, Ubiquinol, fish oil and alpha lipoic acid (<-- the new one)... all 2x daily at various dosings. As the biopsy results suggested, he also mentioned doing bloodwork to look at the DNA of the mitochondria but here's the problem... a lot of times insurance companies don't want to pay for this test because it's VERY EXPENSIVE. From my past experience with BCBS (our insurance company), I'm betting they fall into that category. We are to continue night time feedings with Little Man. We give him 3 ounces of (30 cal/oz) EleCare at midnight. Little Man is my peanut - you many not think so by looking at pictures but he is weighing in at 22lbs and is 29.9" tall --- just barely under 20th% for both. His head has grown... again. It's now 51cm... I don't really have a % for it but at 51cm it's the 95th% for a 24m/o and 80th% for a 36m/o... suffice to say, it's larger than it should be. But with that said, no further action other than watching it will be taken. Little Man hasn't lost any skills and he just had a normal MRI in November. He has had SO MUCH radiation since birth that we are opting against a CT scan as well.
He has also recommended us starting PT with Little Man as well. He is very strong in his upper body but his lower body could use some help. While he doesn't think it is an absolute necessity, he thinks it could definitely help Little Man.
I told him about my concerns with Little Man falling while he crawls and this weird noise he makes while breathing. It's a deep noise - some have described it as it sounding like he is gasping, but he isn't gasping. As for the falling, I can find no better way to describe it than everything goes out from under him and he falls face first into the ground. We met with the head of neurology yesterday and he ordered an EEG. It took about 30 minutes to the leads in place and 20 minutes for the EEG - it was normal (thankfully - we don't need another issue!).
We follow-up with our geneticist in 3 months.
Our geneticist said at times mitochondrial disease is like a virus in the world of genetics... meaning, in certain instances you have to diagnose on clinical symptoms alone. We knew going into the biopsy that we could possibly get a negative or inconclusive result back and he could still be diagnosed with a mitochondrial disease. We also knew, from our first meeting, that if Little Man had one, it was a mild/atypical form of one.
So for now, not much has changed. I feel like we are still in limbo. I am waiting to hear back from his geneticist as to whether or not he is being formally diagnosed. A part of me says "yes, he has this" since his biopsy was highly suggestive and seeing as how he is being treated for a mitochondrial disease.
Also - Big Man has a GI follow-up on Friday. He is still complaining of tummy pain. All of his stool studies and bloodwork results have come back either negative or normal. He has been prescribed Levsin as needed for stomach pain. I have a feeling an endoscopy is in his future. I will update when I know more :)
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