Saturday, May 6, 2017


Before you read this update, please read THIS POST so you'll better understand all I've been going through in the last several months.

In the last 6 months I have seen more specialists than my terminally ill daughter saw in her entire life.  What I have found to be most frustrating in this entire medical journey of my own has been this one fact:
When your child dies... the medical world, any single symptom automatically mean that you are in depression. 
Even if you can pinpoint an exact time or day when your body suddenly felt different, even if your symptoms were not present until that time, even if you say defensively,
"With all due respect, I know what depression feels like and THIS is not that."

I am SO pro-medication.  I am SO pro-self help.  I am SO FOR self advocating if, in fact, you are in depression.  I also happen to be SO stupidly educated and well researched in the world of medicine that I am sometimes seriously angry that I, myself, do not hold a PhD.
I am aware that depression can sometimes show up physically, that it can present with nothing more than pain.  I am aware that it doesn't always mean someone is saying they are totally sad and downright miserable; that sometimes, someone just sleeps a little more than usual and that can be a pretty clear indicator. 

But (and physicians, please HEAR me), when a patient who is young, athletic, likes to eat well, does yoga, gets massages, takes vitamins, drinks water, walks or runs 4 miles a day, and SAYS TO YOU THAT DESPITE HER DAUGHTER DYING, SHE REALLY DOES LOVE HER LIFE....
she is likely NOT depressed. 
In my case, at least, I am not. 

And in the spirit of all things coming together in the exact way that they should (as always), my last specialized appointment was just a few days ago-the day before my actual diagnosis-
with a physiatrist who confirmed it. 
The next day, I was driving an hour away, following 3 school buses full of kids to join Braden on his end-of-the-year field trip when my phone rang and I could see that it was Dr. S (Mabel's geneticist).  Driving is hard for me lately.  My vision has changed and trying to focus on the road for a long period of time typically causes me to have a headache so I always have to prepare for that.  It's stressful, too, because I'm really tired and usually in quite a bit of pain in one part of my body or another. 

I answered the call. 
Dr. S's nurse, Michelle, spoke quietly but clearly telling me that they received the results from my full genome sequence and that Dr. would like to speak to me.  Was now a good time?  I told her I was driving but that yes, I wanted to speak to him. 

He got right on the phone and explained that the lab sent the report back with one (and only one) specific mutation that matched the symptoms that I had given them.  That, my exact mutation fell on the ATP1a2 gene, has never been seen before, but that the clinical picture matches very closely to all I've been describing.  It is a rare, neurological disease only seen in .003% of the population
(made even more rare in me because again, my mutation is the first to be recorded.)
 It is dominant and familial, meaning that not only am I affected by the gene but I also carry it (meaning that there is a chance that the kids could be affected also) and that it likely came from someone before me.  And someone before them. 

I was driving and couldn't focus and asked if I could call him back later. 
"Of course," he said and just exactly like I did the day he called to give me Mabel's diagnosis, I ended up calling him back two separate times.  Each time he had done a little more research since we talked a few hours before, and so had I.  Each time I had more questions than I did a few hours before and he had *some* insight.  Each time he answered and spoke to me clearly, with patience and not hurried. Not ever. 
He is still my hero. 

"Ramee, this defect lies on a huge gene.  It is associated with 'familial hemiplegic migraine' but the name itself is so deceiving.  This is NOT a headache syndrome.  There is a huge spectrum of ways that people are affected and what I see in some of my reading is that in adults, this can very much present like MS.  It can affect anyone, at any age.  This is very episodic and not progressive, meaning that usually something triggers an episode and then there is a deregulation of the normal sodium channel process, causing there to be a breakdown in other areas of the body as well.  Your type is associated with nystagmus, seizures and strokes."

He went on to say that he has only ever seen 2 cases of this.  Both were very young children and both were severely affected.  "In fact, thinking of it now, both had many of Mabel's characteristics," he said.  I thought he may. 

The truth is, Dr. S was never full convinced that NCL was Mabel's only diagnosis.  Even looking back on his plan of care for her future visits, I noticed that he had an entire list of genes that he still wanted tested for other things.  The truth is, the markers for NCL showed up in Mabel's blood but we tested every known gene and just couldn't find one affected.  And though we didn't do a full genome sequence on her, mine didn't show any sign of NCL either.  Typically (though we know Science doesn't always follow any sort of 'typical') both parents would have to be carriers of the exact same faulty gene for a child to have batten disease.  In our case, we just don't know. 

Because he was her geneticist and he never felt closure with her case, I think Dr. S was pleased with the results of my sequence.  I think it gave him a little more insight to what could have contributed to Mabel's disease being so severe.  Will we ever know for sure?...

So my next question for him was obviously, "Oh my God!  So do the kids need tested?"
And his response was a resounding, "yes."

So on Tuesday, they will be. 
And if Nora and Braden have this same defect and therefore have this same neurological disease then could we re-test Mabel's blood to see if she did too?  Yes. 
That's a possibility.  We have one tube of her blood stored for research purposes, but one tube only.  Neither Dr. S nor myself want to use it unless we know it is for a really good reason. 

Does it really matter, you may be asking. 
Honestly, for me, it doesn't.  I'm not questioning one thing.  My baby was so very sick that at some point, despite the reason, I just gave in to the knowing that she would absolutely be better with Jesus than here. 

But for Nora and Braden? 
One day it may matter to know if this is a gene that caused or even contributed to their sister being so very sick; one day when they have to make decisions about children of their own. 
They may have the mutation and therefore the disease or they may only be a carrier, or they may not at all.  In about 2 weeks time we should know for sure. 
So what does this mean for me?
It means that almost all of my symptoms are not only real but very chronic and even considered severe.  It means that I have to find a neurologist who has seen this, in some form, who will be willing to invest time and money into research for my exact genetic mutation and in the meantime will be willing to treat me.  It means that I have to try really hard to avoid any episode that could increase metabolic stress in my body.  It means that I should avoid getting a fever, or treat it quickly if I do.  It means I should avoid certain medications and procedures.  It means that I should spend some time connecting with other patients who have a similar diagnosis.  It means that I will have to further advocate for myself.  It means that I will potentially be on a lot of meds for my entire life. It means that I will finally finish my advanced directives and develop a plan of care for myself in case something serious actually does happen. 
But it also means that I have an answer. And maybe not to everything, but to a lot of things, which is honestly just such a huge relief. 
My Nanny died at the age of almost 63 from, what they believed to be a stroke.  However, she suffered her entire life with neurological issues and a lot of the times those symptoms were blown off by the medical community and even her close friends and loved ones because she was 'pill seeking' or 'drug abusing.'  And perhaps she was doing that.  But perhaps, I have learned through experience, she was in a lot of physical pain and no one could figure out why.  Perhaps her head rolled around on her shoulders, not because of an overdose but because neurologically she had a disease that is so rare no one would have known about anyway.  Perhaps some of the answers to the questions about the symptoms that my mom has developed are hidden deep in our DNA and I just unlocked the code. 
Maybe not for a cure.  But absolutely for validation.   
I understand that not every single person is going to have a genetic disease, syndrome or disorder or that they can even be tested for one.  I understand that not every person who complains of fatigue and muscle weakness and vision loss is going to have something serious be the cause.  But I also knew deep, deep down inside of myself that I did.  That something was NOT right and that they would find something. 

I had a few great doctors, nurses and NP's who, without a doubt, believed me and advocated for me.  They ordered test after test for me, listened to me, checked on me and made me feel incredibly lucky to know them and have them on my team.  I just wish that the other handful of doctors would have listened just a few minutes longer, made their minds stretch a little deeper.
Could they have known what I now know?
  But they could have said,
"I believe your pain is real even though I see no clear evidence.  I believe your fatigue is real and I won't overlook it.  I believe that when you say you are cold to the bone you mean it and you are suffering.  I will keep trying to find ways to help.  I believe your vision has changed and you are right, it is so concerning.  I will be with you every step of the way and we won't stop until we find answers."

When I said to them, "I have had headaches my entire life but last summer I had a migraine that lasted for 7 days and would not go away and my body has NOT been the same since.  In the winter, I had to stop working at a job that I loved because I could no longer stand for 7 hours; the pain was so intense and my vision changed so it was suddenly harder to see.  During this time I also experienced a headache with dizziness and vision changes that was different than any other headache...I spent two days in the ER" I just wish that they would have said, "this sounds terrible.  I'm so sorry.  let's try hard to help you however we can," instead of, "I still just think you're depressed."

So although I still cannot walk into a Dr's office and say "I was diagnosed with MS," something that they may understand, I can say "I was recently diagnosed with a rare neurological disease.  Here, let me tell you about it..." 
I can show them the research that my amazing geneticist has gathered, along with the other researchers he has already involved.  I can show them what other patients are saying.  I can try really hard to be patient while they take the time to listen and learn, if only they will. 

My God, I hope they will.
[This is somewhat hard to read as I transferred it from my phone but here are just some of the ways that someone can be impacted by HM disease.]

After receiving my phone call, I reached out to a support group that I found and asked them a few questions.  This was the kind response which made me feel so validated yet again which is just so crucial. 

For those of you who have been praying for me and thinking about me in the last several months, thank you.  To those of you who have said to me that you believe there is more is happening because you saw my grandma suffer and knew that something just wasn't quite right, thank you.  For those of you who love me have been worried about me, not knowing how to help but wanting to-thank you.  I am grateful for you.  We can learn more together. 
In fact, I know we will...


Unknown said...

All I can say is "Wow"! I am so sorry you've had to go through everything to get to this point. Your family is very blessed to have you as an advocate - obviously driven and capable. I will be praying for God's guidance for you all. Keep the Faith!

Anonymous said...

Ramee, Thank you so much for sharing your story! I am so glad you were able to get an answer, not only for yourself and possibly your mom but for your children and theirs. I met your mom last summer at Audrey Court. She is a beautiful woman and has shared a small amount of her own health struggles. I was diagnosed with Fibro in January. Your story sounds so much like mine. The huge array of symptoms. The difficulty finding answers. Being dismissed time and time again by doctors. Being told it is depression and treated as though you are to blame or as though you are waisting their time. I am thankful you found someone who would listen and actually got to the bottom of your situation. I pray you find answers for treatments that will give you relief and your life back. God bless and thank you again for sharing your story!