Not your Mama's Band-aid

Today, Braeden had another busy day at Duke.   He has a total of 6 appointments this week alone. He had the SSEP testing done today.  This test will be used to measure the electrical activity in his extremities. This test may pinpoint if the issues he is having are originating in the brain or in the spine.  He is also scheduled for another EMG on Friday morning.  It measures nerve response, and it is very painful.

Braeden is a tough kid, but he hates the EMGs.  Think of a 2 inch needle being buried deep in your arm and legs to try to get a nerve response. OUCH!

It was decided on Monday for Braeden to begin the Avastin infusions again.  He had Avastin #6 today and the plan as of now is for him to get them every 2 weeks. At this time, we have been told that he may be on them between 3 to 4 months.  I think the Avastin is a band aid to help get Braeden through the next months to prevent further weakness with his extremities, and we can be seen at a bigger facility.

I sent the application in to the NIH/Undiagnosed Disease Network last night.  In looking at their website, I found these stats. 

• Applications received 4467
• Applications under review 398
• Participants accepted 1663
• Participants evaluated 1392
• Participants diagnosed 408 

Dr Smith, the neurologist, called me last night and he plans on seeing Braeden next week, along with a rheumatologist. 

Since last week's post, I can't tell you how thankful I am for everyone reaching out to me with "leads" and contacts at facilities across the US.  There are doctors all over the country looking at his case.  

As soon as I posted this, Dr. Smith called me and we talked for 30 minutes.  The long and short of it is, the test results were normal, and this means that it is unlikely brachial plexus, or peripheral nerve damage.   The plan is to get the EMG on Friday and discuss those results.  If the EMG is normal, this suggests that the issue is arising from his cord.
Another test that may be done if the EMG is normal is called a Magnetic stimulation, aka Motor evoked potential.  This test basically records where the motor signal slows down when it is traveling from the brain. This would allow us to know if the slow down is happening in his cord, etc.  It also could rule in or out Hirayamo disease. That has been brought up to us a few times, but they don't think that is the cause of this.  They just don't know.

We are hoping that we get connected with a team/hospital that can solve this mystery.  

#BraedenBrave

#MrUnlucky

The kid that has STUMPED the entire DUMC team of doctors

Hi to all, I wanted to give a quick update about our past few days.

Wednesday

Braeden had a complete spinal MRI, and an appointment with his oncologist.  His MRI showed no new changes with his tumor even after radiation. (This really sucks that he went through those 30 treatments without a positive result.)
Braeden's right hand still continues to grow weaker.  During radiation his right hand strength averaged between 22 and 24 pounds.  In the six weeks since he ended radiation, the Avastin, and the steroids, his hand has continued to weakened and was at  a low of 15 this week.

Last Friday, Braeden was unable to press down the second valve on his trumpet.  I wish this thing would stop taking away the things that he loves. Between not being able to bowl, and now not being able to play his trumpet, I know his heart hurts.  I know that mine is hurting for him.  


Dr. Landi was very frank with us.  He used some of the words and phrases you don't want to hear at an appointment, "serious, rare, tragic, running out of time, have to keep an emergent pace"  Then he said something I never expected to hear. "Our team has done all they can do for Braeden.  We just don't know we need to do for him.  We can't figure out what is wrong. We need to get him to another team who may have an answer."    In my head, I was thinking WHATTTT ????? We are at Duke what do you mean you have done all you can do??????   

He emphasized that they would still be there to help us along the way until we find the right team to figure this thing out.  They are going to connect us with the neuromuscular team and autoimmune team and hopefully they can provide some answers.   The plan at that time was to possibly have Braeden admitted to the hospital this weekend, and have the teams consult while he was an inpatient.  Braeden began a whopping steroid dose again, and he hates them.   He doesn't sleep on them, and is a starving more so than usual teenager.   Avastin is not off the table, he may have to do more infusions if his right hand keeps getting worse.  Those two drugs are not a cure, but a bandaid that is not a long term answe

I brought up the possibility of  Braeden going to NIH (National Institute of Health) they have a rare undiagnosed disease clinic.   They may be able to come up with more answers.  He also suggested going to UNC for a consult.  I told him that we couldn't waste another six months to a year at UNC running the same tests.  I feel that both Duke and UNC are great and comparable hospitals, and  I wasn't really sure what they could do any differently. 

The next day everything changes.......

Thursday

Braeden fell down 12 stairs today.  I can't help to think it is because his legs and feet are getting more numb.  I texted Dr. Landi and asked him to call me.  My intent of the call was to ask him to start on the road for a  consult at NIH.  He said it is a difficult thing to get "in" NIH.  He said he was going to touch base with a patient's parent of his, whose son is seen at NIH and ask for her MD's information.  I told him my nephew was a patient at NIH for an autoimmune disorder.  He asked me to email my SIL and give her his number and info and send it to the doctor they see.  He hopes to be able to talk with one of them and see if this will fast track Braeden and get in sooner.

Then he once again said something I wasn't expecting to hear.

"The autoimmune and neuromuscular team contacted me today, and they said  that they don't think there would be any benefit to have them consult with Braeden. There will be no need to admit him this weekend."  You can't be serious!!!!!  WHY?????  WHY not neuromuscular at the very least?  He just fell and is now on the verge of losing use of another hand.    He said that they felt like any test they would have ordered has already been done.

So now what?  I wish I knew....

Friday
I spoke with his pediatrician today, she has been with my boys since birth.  I wanted her thoughts and her opinions.  She suggested that we pursue a consult at UNC while we are waiting for NIH to "accept us."  At this point, we have nothing to lose and it only takes just that one person that could solve this whole thing.  I am planning on asking Dr. Landi's office on Monday and seeing if they can refer us.

Dr Landi's PA also called me today, and she gave me the info I needed to get started on the path to NIH.  Apparently, it is a long process, and from reading their website today, it will be even longer because of Covid-19. (Ughhhhh, we don't have any time to waste.  He is struggling daily doing simple things and we keep added things to the list weekly that he is having problems doing.) 

I filled out my application. I need a document from their office which I will get on Monday.  And from there it is out our hands.  The hope is that they will accept Braeden into their program, and then the bigger hope is that we get our Braeden back in good healthy working condition.

I want to thank my sweet family and friends that have been keeping sane.  The texts and phone calls and messages are very appreciated. Everyone asks what they can do.  I have been telling them just to send tissues and pray.   I need the tissues and he needs the prayers.

#BraedenBrave
#MrUnLucky