Enigma

Enigma - this is the word Dr. Smith used to describe Braeden's case today.   I don't have a lot of new news or any real new answers.  

• Biopsy of his bruising was done on 9/24.  Results came back negative.  This rules out the vasculitis. This is a definite relief.
• On 9/28 he began having leg tremors. Anytime he lifts his heel off the floor, his legs shake uncontrollably.  They are saying that this is because of the myoclonus.  It's hard to see him have this new symptom, and in the future, if it gets worse we can do medications to ease the symptoms.
• We saw Rheumatology today and she thinks that we need to revisit the Asialo-GM1 results. (If you remember, this was the result that came back "equivocal".  His immunoglobin G levels were low and it doesn't make since that his GM1 results were 49.  She thinks it is likely that his GM1 value is actually higher.  This means we are still on the path trying to figure out which autoimmune neuropathy disease he might have.  Both neurology and rheumatology saw him together today and they just don't know.   None of the "puzzle pieces" are fitting together and they don't give us a clear picture of his diagnosis.   I am sure is just as confusing for you as it for me to read all of this medical jargon. They suggested that once Mayo Clinic reaches out to me, that I let them know that his IgG-IgM was 49 and that his total IgG was in the 400s.  And, maybe Mayo can shed some light.  I plan on reaching out to Mayo this week to follow up.
• IVIG should have worked by now.  No improvement is noted yet.  We will continue the IVIG for 6 months, as CHOP recommended, and hope that it starts working.
• We saw nephrology today, and they were pleased with his blood pressure and his weight loss. Another positive for the day.
• He had an echo today to ensure things are ok with his heart.   His two blood pressure meds are controlling his blood pressure, but his heart rate is still high.

Braeden has felt crappy for the last few weeks. They blame the IVIG and being off steroids.

In other news, most will agree that puppies are the best medicine.    Especially cute ones like Ms. Daisy Penelope who will be joining our family around the 20th of this month.  (Finally another girl in the house!!)

Thanks for all the prayers and love as we continue to chug along.

#BraedenBrave

#MrUnlucky

How many doctors does it take?

It's been 13 days since my last post, and things as always are ever changing.  I mostly write this blog to keep up with the enormous amount of information and appointments and everything else that is involved with his case.  Back in May, when Duke said they had exhausted all testing and didn't know what else they could do for Braeden, I began a paper journal because I knew that it would be redundant to "blog" every new thing.  

Yesterday was a long day at Duke.  We were there for almost 12 hours, and we had a lot of new things thrown at us.  I am going to refer to my journal and give you a timeline of things that have happened the past two weeks.

09/14/2020- The results of Braeden's 24 hour urine reflected that his kidneys were potentially being damaged by the Avastin, and we needed to make a decision whether to proceed or stop the Avastin. It's been decided to stop the Avastin.  

On this day, I noticed his hand tremors were worse. He had a lot of new bruising that he had no idea how he got them.   I also noticed for the first time that his left arm was twitching.

09/15/2020- I texted Dr. Landi a video of the twitching.  Bridget his NP emailed back and asks that we keep an eye out for any bleeding, because his platelets were low last week on his labs.   We also need to continue to update them with any new symptoms.  

09/16/2020- I contacted Mayo Clinic and requested an appointment for Braeden.  For the past five years Mayo Clinic has been named #1 hospital in the nation.  Maybe they can solve the mystery of Braeden.

09/17/2020-Braeden officially dropped band.  The hope is that he will be able to rejoin the band when he regains hand strength.  The word hate is not strong enough to describe my feelings about this DAMN thing taking away another thing he loves.

09/19/2020-15th year anniversary of Craniopharyngioma diagnosis, 22 months since Astrocytoma Grade II diagnosis.  My hero.

09/20/2020- Braeden felt his first jolts on this day. He described them as a "violent" shooting pain.  This is also the first time I noticed his right arm twitching.

He looked exhausted and slept a lot over the weekend.  

09/21/2020- Mayo called and got basic information insurance etc

09/22/2020-Braeden had a routine appointment with his endocrinologist.  His blood pressure has been better since we started the 2nd blood pressure medicine, but his heart rate is averaging between 120 and 150.  His usual heartrate is around 60.  She was concerned and ordered a 24 hour holter, She has referred us to a Cardiologist. 

I contacted our navigator  Duke and made them aware that I had reached out to Mayo and that they would need his medical records.

09/23/2020- The team spent a lot of time with us yesterday. Below are the highlights.

• C-Reactive Protein was high. This indicates he  has some sort of inflammatory disorder,  or autoimmune disorder.  Lupus was mentioned. We are being referred to Rheumatology to try to figure out this bit of news.  
• His platelet labs are all low and it's possible he has something called Von Willebrand disease.  Simple definition is there is not enough of a certain protein that is needed for platelet adhesion.  We are being referred to Hematology to figure this other bit of news.
• The twitching and his tremors have gotten much worse over the past week.  The team diagnosed it as Spinal Myoclonus.  And guess what????  It's RARE and can't be cured.  The treatment for it is focused on easing the symptoms. We are also doing a MRI to ensure that his tumor is stable. We are being referred back to our Neurologist to manage this part of his treatment.
• We should have seen improvement with his hand strength from the IVIG infusions.  Unfortunately, that has not improved.
• The bruising that keeps "appearing" from no apparent cause is something they are calling purpura.  This happens when there is bleeding under the skin and there hasn't been a trauma.  Braeden has several that fit this criteria.  He has one in particular on his face that could be in the textbook of Purpura.  They feel pretty sure he has also has something called vasculitis.  Another RARE condition that can't be cured.  This is an inflammation of the blood vessels. It can cause them to become scarred, thickened, weakened, or become narrow.   The plan is for him to be referred to Dermatology. Dermatology will need to get biopsies of his purpuras as soon as possible.  The vasculitis can range from mild to life threatening.  Getting this done ASAP is our first priority.  (They called me today, appointment is tomorrow morning.)
• IVIG #3 infusion done.  The infusion takes about 3 hours and with the help of IV Benadryl he slept the whole time. IVIG can also be used in treating vasculitis.  
• 127 pages of medical records were sent to Mayo clinic.  They will review his case, and if they accept our case, we should be able to be seen sometime in November or December.
• MRI done last night, and today they called to tell me that the "the MRI shows no radiologic evidence that the tumor is causing the progression of his symptoms.

His diet is going well. (We are working on the steroid weight gain, and happy to say he has lost 9 pounds over the past two weeks.)  Calorie counting, and no processed foods, and lower carbs, and lots and lots of vegetables.   Side note: cauliflower mashed potatoes are YUM!

Braeden-ism of the day yesterday.  Braeden and I listen to podcasts together.  Last night, he chose the episode about Woodrow Wilson from the show Very Presidential.  With in the first moments of the show, they talked about President Wilson's failing health.  One of the first things mentioned was his right hand weakness.  (Umm, sound familiar?)   They went on to say that he ended up being blind in his left eye. (Seriously? Braeden is blind in his left eye.)

Braeden looks at me and deadpans, "I am so Presidential and I didn't even know it."

My head and emotions are in a tailspin.  The year  2020 has not been kind to him.

Much love to all.

#BraedenBrave

#MrUnlucky

1 out of 7.8 billion people

WARNING:  Skip to the end if you only want the CHOP  update from today.   It's been a busy few days since last Monday.

Braeden's blood pressure kept acting up and it was decided he needed to see a Nephrologist to help manage his BP.   The Nephrology team will see kids like Braeden because they are confident that the increased pressures are from the steroids and the Avastin; both of which have a negative effect on the kidneys.   His pressures kept rising and even reaching the scary numbers of over 220 etc.   

We saw the new doctor this past Wednesday and he was truly one of the nicest doctors I have ever met.  Dr. Delbert Wigfall - if your child needs a kidney specialist, my vote is for him.  He took all the time in the world and was awesome with Braeden.

He started Braeden on an additional BP medicine, and, after just 2 days his BP is back to the 130s/80s.  He also ordered a kidney ultrasound to ensure that his kidneys were not damaged from the aforementioned medicines.  I got an email yesterday that those results were normal.  Definitely a positive for the week.  We get an echo next month to make sure everything is okay with his heart.

Braeden was unable to get Avastin # 12 on Wednesday.  His protein/creatine ratio was 497.  It needed to be below 300 for them to do the infusion. (This is usually a sign of kidney damage.) Plans were made to do a 24 hour urine sample. Those results will determine our Avastin path.  

Dr. Landi also made me aware that some of the Mayo testing had come back.  Braeden ruled out for a lot of the immune testing. Another positive...

But, there is always a but.... Dr. Landi, asked me to reach out to CHOP and get them to go over the abnormal results that Mayo had sent.  He wasn't able to tell me much about the abnormal results. 

I got a copy of the results and knew I would be busy googling until I heard from one of the other doctors who would be able to tell me something definitive.  I emailed both CHOP and our Neurologist at Duke on Wednesday once I got home to call me.  

After those emails, the googling and searching began. 

His testing for the Asialo GM1 antibodies, IgG-IgM was 49.   What does this mean?  According to the reference ranges as seen below this result was EQUIVOCAL.   I can promise you after all this kid has been through, the last thing I wanted to read was the word Equivocal.  This word basically means it the result is  "open for interpretation" and could be either positive or negative.  Great, even more of the no answer thing.   But you are "almost positive".   I don't want him to have any of this,  but something is wrong and it would be nice to know how to FIGHT this thing from getting worse.

29 or less      NEGATIVE

30-50            EQUIVOCAL   

51-100          Positive

101 and Up    Strong Positive

I won't bore you with all the information I found, along with my sister-in-law Sara, and Teresa, my BFF were able to find about the GM1 antibody and what it causes.    Multifocal Motor Neuropathy (MMN) and Chronic Inflammatory Dymyelinating Polyneuropathy (CIDP) continue to come up in our searches.   

If you read about the MMN, Braeden could seriously be the poster child for MMN.   MMN  presents clinically like ALS.  The difference is that MMN is a chronic condition and some patients improve with the IVIG path.  At least, we have already started on that path. 

Sara, Teresa, and I figured that MMN was our best guess.  I am just an internet Doctor; those two play two in real life.  LOL 

Below in Red is part of an article describing MMN.  He literally could be the poster child for MMN. His physical symptoms are spot on.  

But,  that is always a but....The week is not over.  After the article, I will write about my call today with CHOP and their interpretation of the results from Mayo.

Multifocal motor neuropathy is a rare disorder characterized by slowly progressive muscle weakness, primarily of the arms and legs. The disorder is considered to be immune-mediated, which means there is inflammation resulting from abnormal functioning of the immune system and the presence of specific autoantibodies that target a specific protein in the body. Other symptoms including muscles cramps and wasting (atrophy) of muscles can also occur.  Multifocal motor neuropathy usually responds to treatment with intravenous immunoglobulin.

Multifocal motor neuropathy is a progressive disorder, this means that the signs and symptoms tend to worsen slowly over time. The main symptom is progressive muscle weakness of the arms and legs. Unlike other neurological disorders affecting the arms and legs, there usually is not any sensory deficits. This means that feelings of tingling or numbness or pain are not associated with the disorder. Muscle weakness often begins in the hands, causing hand weakness and affected individuals may drop objects frequently or have difficulty performing tasks that require fine motor skills such as turning a key in a lock. Fine motor skills are those that require small movements involving the hands and wrists. Some individuals have trouble extending or bending their wrist upward (wrist drop). Reduced grip strength of the hands and reduced dexterity of the hands is seen. Sometimes, muscle weakness starts in the legs. 

As muscle weakness progresses, severe fatigue in the affected muscles may be seen and the disorder will cause functional disability. Affected individuals may have limited endurance. The muscles on one side of the body that are affected may be different from the muscle affected on the other side of the body (asymmetrical muscle weakness).

Additional symptoms associated with multifocal motor neuropathy include cramping, involuntary muscle contractions or “twitches” (fasciculations), decreased muscle tone, and, sometimes absent deep tendon reflexes. Later in the progression of the disease, wasting (atrophy) of the affected muscles may occur.

Other muscles such as those affecting breathing are unaffected and the disorder usually does not affect life expectancy.

Affected individuals have autoantibodies. Antibodies are part of the immune system; they are specialized proteins that target foreign or invading organisms. Autoantibodies are ones that mistakenly attack healthy tissue. Many individuals (30-60%) with multifocal motor neuropathy have autoantibodies that target GM 1 ganglioside, 

Dr. Brandsema from CHOP called me today and we had a long conversation about the results.

The two things that Braeden's symptoms symbolize the most are the CIDP and MMN.

Dr. B says that he doesn't have the CIDP. There was no protein pattern in his spinal fluid and  his EMG does not reflect CIDP.

It's not MMN; his EMG doesn't reflect MMN and also MMN isn't a pediatric disease.

What now????? (I mean seriously, I would have bet money on the MMN.) 

Wait for it....

He is PERPLEXED and Braeden's case is very UNIQUE. And, he doesn't have an answer for us.  

He suggested to wait and see if the IVIG improves anything over the next 6 months and plan a treatment regimen at that time.  (Steroids, etc)

If there isn't any improvement with the IVIG, his thoughts were that Braeden has a very unique disorder and one not previously described.  

(7.8 billion people in the world, and this kid keeps showing all these doctors how UNIQUE he is?)  You are telling me that my child is only person in the world that has this issue. I can't wrap my head around that.  He can't be the only one.

His other thought was that Braeden has a known disorder, but it is presenting itself in an unusual way and with any new symptoms make them aware.  Sometimes, when someone has neurology issues, new symptoms happen and can lead the doctors down another path that may include a diagnosis.  

Six months is way too long for me to wait and see, considering everything.  I appreciate what Duke and CHOP have done, but there has to be another hospital that can help us.   He suggested that we go to Mayo Clinic. He thinks they are the Pinnacle of the Neurology field.  He did suggest we wait until the IVIG has been in his system for a while and if there is any improvement.  

That's a good point, but not happening.   A call has been put in to Mayo Clinic.  Once, I talk to them, and get an appointment, I will let them decide how long we need to wait for the IVIG to be seen by them.

 

Braeden-ism for the week.   His new BP medicine is actually the same as one of the ones I take.  I was telling him how much it had helped my pressure, etc.  He said, "Mom, I am not sure its a good thing that we share the same kind of prescription drug bottles."    

You all are so appreciated.  Thank you all for being with us on this emotional, exhausting, never ending ride.

#BraedenBrave

#MrUnlucky

Good news Monday

Shortest post ever....

Blood pressure is better.  It is still high but manageable.   He needs a few more days for the medicine to work.  The decrease in steroids should help too.

Cytology came back and although there were "limited cells" with his sample but there isn't 

ANY EVIDENCE OF LEUKEMIA OR LYMPHOMA.  

Now we wait for the other testing to come back from Mayo Clinic and go from there.  Those tests will be ruling in or ruling out any autoimmune diseases.

Until next time.

#BraedenBrave

#MrUnlucky

Dreaming, Decadron, Diuretics, Diastolic, and hopefully (no) Duke visit

I really try hard not to over post, but sometimes I have  to keep up with all the ACTION that surrounds my oldest fellow. If I didn't keep this blog and my written journal, there is no way in HECK, I could keep up with it all. 

Yesterday, was another long day at Duke. Braeden had his 2nd IVIG and his 11th Avastin infusion yesterday. Thankfully, he slept through most of the treatments.  His blood pressure was misbehaving and hanging around 160s/110s.  Steroids are likely the biggest culprit causing it rise. Those little pills are the biggest troublemakers.  I am so glad he is being weaned off of them within the next few weeks. Avastin can cause issues with his kidneys which in turn causes BP issues, but Braeden's kidney lab work from Tuesday looked good.

They were able to finally bring it down with IV blood pressure medicine and, finally, diuretics.  Once the diuretics started working, there was no sleeping for him, lol.  We were told we could go home as long as we had a way of checking his blood pressure and to call in today with his numbers.  If his BP was still up today, we would begin blood pressure medicine.  Once again, thank you steroids for being such a PITA. 

This morning before school his blood pressure was 156/96 &140/90.  We made a plan for him to continue school at the kitchen counter and not to do anything else.   (Duke wants to see his bottom number (diastolic) below 90)

Around 11:45, I rechecked his pressure and rechecked and rechecked....His pressures were 187/125, 185/118, & 181/118.  

I called Duke and they immediately called in a blood pressure medicine for him.  He began the medicine today at 1:30.  Realistically, the medicine will take a day or two to start working.  

I gave them another call at 3:30 because he was having a nose bleed and his pressure was still high at 

187/112.   

He is pretty asymptomatic even with his blood pressure being so high.  If he ends up having a terrible headache, a more significant nose bleed, or if his pressure climbs anymore we will definitely head to Duke.   

For now, he is being waited on hand and foot, drinking lots of fluid, taking his Tylenol for his headache and says he is feeling  "pretty good".  

I just asked him what the worse thing about his day has been so far.  He responded pretty quickly and said having to get up for school.  I think the kid is going to be ok.

Prayers that his BP doesn't get any higher, and that we can all have a nice quiet weekend at HOME.

UPDATE just checked his BP at 5:45 after I posted this blog and his pressure is 160/90 so we are heading in the right direction. 

#BraedenBrave

#MrUnlucky

Shopping List

On Monday we saw Dr. Landi  and got the pre-op stuff  done for the lumbar puncture that was scheduled for today. His lumbar puncture was planned to be done under anesthesia in the OR. 

The team felt that in general his spine and case were too complex to do the tap with out putting him out.   (I totally agreed with this, the kid is fidgety, and the last thing he needs is to be fidgety with a needle in his back.)   Plus, I figured he would get a good nap, since the steroids keep him up most nights.  

Dr. Landi said he had quite the shopping list from CHOP of testing that they suggested  to be done with his CSF.   Shop away, shop away.  Answers are needed.

It was also decided that day, to start weaning his steroids, and a plan was made to be completely off of them by September 14th.  While they were a necessary evil and they did some good, they also did their share of bad.

The side effects, are just a big UGGGGHHHHH for him.  The constant hunger, the weight gain, the acne, no sleep and the list goes on.  He is ready to feel better, and it goes without saying that we all want that for him.  Because of the steroids he now has a condition called Cushings syndrome.  Most of the side effects that associated with the Cushings should resolve slowly after he is weaned off of them.  He unfortunately, has developed the deep purple stretch marks that are common with Cushings, and he will always have those as a reminder of his latest "gig" at Duke. 

Being 16, he may not get that scars tell a story, and being able to tell the story is way more important than how they look.  

Braeden also had Covid testing done on Monday.  I am happy to report that his test was negative.  He had to have a negative result for his "procedure".   He also reports that the actual "swabbing" wasn't that bad, and that NO, it didn't go up to his brain, lol.

Today was a fairly long day for Braeden.  We left home this morning at 8:30 and got home this evening around 8:15.  I think they need to put us on the payroll.  

In true #MrUnlucky fashion, the LP should have only taken 10 minutes or so, after he was prepped and "knocked out".  Of course, with his luck this didn't happen, he was under for almost two hours.   It took five different doctors to try to get his sample.  The doctors started with a 3.5 inch needle, and ended up having to use a 5 inch needle to obtain the sample. (Blame the steroids for making this so difficult) OUCH, is all I can say.  They were able to finally get about 16 ccs of CSF from him. Most patients only have 2 to 3 ccs  of CSF drawn from their spines.  His sample was larger than most, because of his "shopping list" and all the different testing that is ordered.  

We will not get the results of most of the autoimmune disease markers for weeks.  We will get the cytology results in about 72 hours, that will rule in or rule out Lymphoma or Leukemia.

After his LP adventure, we headed upstairs for his first IVIG infusion.   We go back tomorrow for another IVIG infusion and an Avastin infusion.  In the future, the IVIG can be given in one day.  Today and tomorrow are considered the "loading" doses and they want to ensure he tolerates it well.  The IVIG took about 3 and 1/2 hours to infuse.  Braeden was tired, and hurting during the infusion.  When we got home, he went to bed after he ate and has been sleeping ever since.   

I sure do hope that his full day of "work" will provide the answers that are needed to get Braeden back to being Braeden.

Thank you all for the love and prayers.

#BraedenBrave

#MrUnlucky

Is the mystery solved? NOPE! Is there a Venn diagram to lay out our plan? YEP!

Home from Philly...

The past 60 hours have been busy.  Those hours were filled with doctor appointments, more testing, a lot of yummy food, some heavy traffic, and a little sight seeing. 

I will try to condense everything and keep this post shorter rather than longer.  

A lot of those 60 hours, were spent questioning the doctors, and asking what more we could do?  Where else could we go, if you can't solve the mystery of Braeden?

I had written about Braeden "stumping" the Duke doctors a few blogs back.  WELLLLL, it seems he is stumping the doctors of CHOP as well.  Is this what we wanted to hear?  No, it's not.  Is there a plan? Yeah, kinda.  

I will start with the appointments we had yesterday.

Dr. Brandsema the Neurologist

His best guesses were as follows:

        

    The testing shows that Braeden's problem is mostly motor and not sensory.  (This is RARE.  Typically, it is a mix of motor and sensory)   Of course, this kid is going to keep these doctors guessing.  

    

    Braeden's issues are nerve root related. This could be caused by a autoimmune process.  Most of the the things that cause nerve root issues are not treatable.  

    His suggestion is to try a "Hail Mary" and begin IVIG infusions for six months.   He said it was a long shot, but if there is a response to the drug then great. (IVIG is a blood product used to "wash away the bad antibodies" in the blood that are attacking the "good". )

    He also questioned, why a sudden auto-immune disorder if he has already had a brain tumor and the spinal cancer? (Kind sir, that's why we are here.)

    

     He thinks that his symptoms are tied in to his tumor, or possibly something called Chronic inflammatory demyelinating polyneuropathy (CIPD).  He said it was a long shot, but CIPD can be motor related.   (His EMG does not support this diagnosis.)

So our plan after leaving his office yesterday was:

    Plan a lumbar puncture at Duke. (I texted Dr. Landi this morning and he is going to take care of this getting this ordered for next week)

        

        

The results will rule in or rule out the CIPD, and or a Lymphoma or Leukemia process.  Both Lymphoma and Leukemia can cause multiple nerve root issues, and his roots are are all being affected.

If his cerebrospinal fluid shows an abnormal cell pattern then it is likely CIPD.   If the cerobrospinal fluid show abnormal cells it may be a Lymphoma or Leukemia process.

Are you dizzy yet?  Because, I am.

Our next appointment was with Dr. Chen yesterday.  She is one of the Neurosurgeons at CHOP.  I will just let a picture of my notes below sum up our appointment. 

Today, we met with Dr Phillips who is the neuro-oncologist.  He literally spent hours with us today.  He has no clear answers.  He only has BEST GUESSES as to what is going on. His best guess is that it is a paraneoplastic neurologic syndrome. HIS BEST GUESS, does that suck? Yes it does, and I 

couldn't help to ask, what next?  

If you don't know, WHO WILL?  Dr. Phillips looked at me and said he would not leave us behind.  Once, we get the lumbar puncture next week at Duke, and if we find out we have one of the  paraneoplastic neurologic syndromes,  he will help us navigate and find the expert we need to deal with "his PNS".

If it is not a PNS issue, we will begin the IVIG infusions, and hope for the best, that his symptoms will get better, and we can stop the steroids.  I certainly hope it is this simple of a fix.  But as Dr. Philips stated today, "Braeden's case is CONFOUNDING and doesn't make sense."

Our appointment is summed up below, Braeden read it and said it's my VENN diagram, lol.

This road is not over for my boy.  

I appreciate all the love and prayers.  He deserves them.

#BraedenBrave

#MrUnlucky