Friday, September 11, 2020

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

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