The Mito Muscle Biopsy

Does she have Mito, or doesn't she? According to the "Bernier Criteria," a scaling system based on evidence such as clinical and visible symptoms, Queen Teen does have Mitochondrial disease. In fact, the Bernier Criteria upgraded her from "probable" to "definite." But we still don't have a specific diagnosis of the type of Mitochondrial disease she has. In an effort to maximize possible treatments, we decided to have her undergo a muscle biopsy. The biopsy would show if her muscles have "ragged red fibers." If so, then she definitely has Mitochondrial disease. If not... well... she still has Mito, but we will be no closer to understanding the type of Mito she has.

On Thursday, we drove to Stanford again, this time with her Aunt Mimi and best friend/cousin, Mae-Mae. The four of us had a wonderful time exploring the Stanford mall, where Mae-Mae introduced Queen Teen to the joy that is Ambercrombie and Fitch. We stayed in a nice hotel near the hospital where we ate dinner by the pool (which wasn't very good, but it was a lovely setting and our room was just three floors away). Queen Teen was ecstatic to have her best friend so close. Occasionally she'd reach out to hold Mae-Mae's hand and Mae-Mae would hug her or help her with a drink or find a book. Aunt Mimi was an incredible support for me, reminding me of details the doctors had said and finding my purse when I couldn't see it 6 inches  from my ankle . Thursday evening I took a break and had a glass of wine by the turquoise pool, comforted by the fact that Aunt Mimi and Mae-Mae were there helping Queen Teen. 

Friday was the actual procedure. We all woke up at 5 AM, scooped up Queen Teen, and then drove one mile to the hospital where we rolled her in her wheelchair to the Surgery Center. Queen Teen was tearful and frightened, but every time Mae-Mae held her hand or smiled at her, Queen Teen smiled back. Unfortunately they wouldn't let Mae-Mae into the pre-op area because she's under 18. But Aunt Mimi came, helping me stay strong so I could help Queen Teen stay calm.

The last time we were at the Surgery Center, Queen Teen fought and cried so hard that one of the nurses had to leave the room in tears. Two years later, there was no screaming. We took it very slow; the nurse had me take the lead on showing Queen Teen what was happening. The Resident (who was cute!), interviewed me from the doorway and later had me put the numbing cream on Queen Teen so she wouldn't be frightened by a stranger doing it. Queen Teen took the medicine the Resident gave her and in about ten minutes was stoned enough to lie back and relax. The Resident and nurses took her to surgery without me having to hold her hand the whole time. There was no fighting.

She's really grown up; at 17 she can understand what is happening a little more and can calm herself down when she's panicking. The staff at Lucille Packard Stanford are wonderful supporting kids with Special Needs. I'm sure we upset their schedule, but they didn't rush us. Slowly, we got Queen Teen ready, and she went into surgery without tears.

I waited in the cafeteria with Aunt Mimi and Mae-Mae, drinking decent coffee and fighting the desire to find my child. I hate waiting like that. My child is in a room full of strangers, completely helpless, and I'm just trusting these people not to hurt her. I do trust them, though. Lucille Packard is an amazing hospital. Regardless, that hour was horrible and I am so thankful that I had the support of family with me. 

And then, a wonderful thing happened. Nurse Sarah who used to work with Queen Teen when she saw Doctor Sanger, walked into the room and gave me a big hug. She was so positive and happy to see me, my fear disappeared. We chatted about Queen Teen and the biopsy, how well she's doing despite her illness, and what Nurse Sarah is doing now that Dr. Sanger left Stanford. So many people have worked so hard to help Queen Teen, and Nurse Sarah is one of the best. We really miss her.

Finally the procedure was over and the surgeon came out to see us. She did great and was in recovery. Aunt Mimi and I went to post-op to be there when Queen Teen woke up. However, Queen Teen decided she wanted to stay asleep for another hour. I can't blame her; she was exhausted, overwhelmed, and after 15 hours of fasting, out of fuel. When I first took her hand she opened her eyes and then kissed me. After that, she went back to sleep. I tickled, stroked, kissed and massaged her, but she refused to wake up. The nurse just shrugged. "It happens. Her body really likes the medication." Eventually Queen Teen woke up enough to sit up and drink some juice. Once that happened, the nurses let her go, but Queen Teen slept almost the entire three hour ride home.

Rick was waiting for us when we got home. Aunt Mimi and Mae-Mae helped us unload the car and get Queen Teen settled, then they drove the hour to their own house. Again, I cannot express how thankful I am to that they were there. I told Mae-Mae that she's coming again next time Queen Teen has a procedure.

"I don't care if you have school. You're going."

She smiled and shrugged. "No problem."

Now we wait for results. The biopsy shouldn't take too long, but the skin cells will take longer. Hopefully, we hear something on Monday.

How would you feel if your worst fears are confirmed?

Whenever we go to Stanford for a medical appointment, we stop at the Disney Store so Queen Teen can indulge her obsession with all things Disney. Ice cream isn't enough any more, instead Queen Teen gets to buy a new doll or shirt or trinket, usually related to a Princess.

My Disney Store is called Godiva... as in Godiva chocolate. There is a Godiva store at the Stanford Mall so my treat after the long drive and worry is to blow thirty bucks on a box of delectable truffles. I would spend so much because we used to only go to Stanford three times a year. Now we'll be going more often, so I'd better cut back on my Godiva splurge before I gain 40 pounds and max out my credit card.

However, we won't be cutting back on Disney.

Queen Teen had a genetics appointment last week with Dr Enns, the leading expert on Mitochondrial Disease in the U.S. We've been working with him for 5 years and he's put her through every test he can think of to confirm whether or not she has Mito. All of the tests come back negative. The mitochondrial sequencing test showed an anomaly in 100% of her mitochondria, but this is more likely a familial trait, not the cause of her illness. This time, I was the one who had to get blood work (Queen Teen loved that) so they could determine if I too have the anomaly. This would confirm that it's just the way our mitochondria are made.

Dr. Enns was alarmed at how rapidly Queen Teen has lost ground, and it felt reassuring that the doctor is just as worried as we, her parents. Reassuring isn't the right word. You know that feeling when you go to the doctor convinced that something is terribly wrong with your child, only to have a condescending physician pat you on the head and tell you not to worry? It's infuriating. Then you go to a different doctor and that doctor takes your fears seriously and immediately gets to work trying to help your child. You feel calmer and reassured that the doctor cares about your child.

But how should I feel when the doctor confirms my worst fears about my daughter, tells me to trust my intuition without actually giving a prognosis, and talks about aggressive tests to find the right treatment to improve her quality of life? We're not discussing cures or longevity, we're discussing symptom care and slowing down progression.

Dr. Enns and her new neurologist want a muscle and skin biopsy, and we agree, even though this means anesthesia and minor surgery. While she's out, they will draw more blood and try to squeeze in an MRI. He has recommended a newer Mito-Cocktail and is recommending that she be part of a medication research trial.

I can't believe I'm going to put my kid on experimental medication.

It will take some time to get the appointments organized (she also needs to see a cardiologist and respiratory specialist, as well as the surgeon and several doctors on the medication committee) and I'm so thankful that Dr. Enns' assistant is dealing with that. Hopefully, we'll get this done before school starts August 20.

Queen Teen will be getting a lot of Disney swag this summer, and I'll probably be eating way too much chocolate. 

Second Easter in Hospital

Queen Teen has had two Easter baskets from Lucille Packard Children's Hospital, which is two baskets too many. The first Easter we spent there was after her feet surgery when she was 11. The second was this past Easter.

We finally heard from the neurologist who wanted her admitted to the hospital immediately for tests, so we dashed down to Stanford and spent three days there. Queen Teen was low on glucose and electrolytes, but a couple days of IV fluids brought the color back to her cheeks. Our new neurologist is excellent and I have a lot of faith that he'll be able to help us sort out the mystery of Queen Teen's disorder.

Disorder. Syndrome. Why can't I call it a disease?

We're home now, waiting for the results of all those tests, including an EEG to check for possible seizures. Her strength is poor and stamina worse, but she's slowly feeling better (I can tell she's feeling better because she's getting bossy again). Eating is still tricky and some days she has trouble swallowing juice. Other days she can eat Mac and Cheese with gusto. Just like everything about her neurology, her symptoms come and go. She's still not strong enough to go to school a full day, but maybe in another few weeks? Time will tell.

That's always the answer: time will tell. What will happen next? Time will tell. What does she have? Time will tell. What can we expect? Time will tell...

I found this great site that explains what Queen Teen has: What is Mitochondrial Disease? The United Mitochondrial Disease Foundations is an advocacy and resource organization which also raises funds for research. With a long list of possible Mito diseases, why is Queen Teen such a mystery? Why can't we discover her disease's label?

And why do I need to know so badly now?

I could lose my daughter; I know that now. Am I strong enough to go through this with her, to be there for her no matter what may come?

The possible syndrome roller-coaster.

Well, here it is: the possible syndrome roller-coaster. It's the exciting, heart-pounding, emotional ride in which you get to worry incessantly about your kid while doctors hunt for answers, and then after a fever pitch of panic, you get the 1000 foot drop straight down when all the tests come back "negative."

What's causing your child's illness? It could be this or that or this other really awful thing. But don't worry. We'll run all these tests which will give us answers. Just be patient.


Huh, that's odd. All the tests came back negative. Gee, I really thought it was going to be this really awful thing. She has all the signs, but the tests are negative. Hmmm... you know... it could be this other really awful thing. We should run some tests. 

We've been riding this coaster for fifteen years. We find some balance for a while, until either Queen Teen shows some new sign of a degenerative disorder, or a doctor says she "might" have this thing, and there's a new test he'd like to run. And so we climb back onto the roller-coaster, strap in, and hope for answers.

We still don't have any answers. After years of hunting, we had made peace with that. Not knowing meant the future was still wide open. She could plateau, learn skills, gain strength, and eventually have a life of her own. Maybe she could live with a friend in an apartment with support and find a job she enjoys. She could fall in love. Not knowing what would happen meant we could pretend that everything would be fine for a while longer.

But now, we need to know.

Three weeks ago Queen Teen started gagging on food. It got so bad she couldn't eat anything solid or textured. She's been living on Ensure and yogurt. I took her to Stanford for an emergency gastroenterology appointment where they ran a bunch of tests. The good news is they didn't find anything structurally wrong, which means she's safe swallowing and won't aspirate on her food. The bad news is it means it's probably neurologic. There isn't a cure for that, or an easy answer. So now we're waiting for an MRI and neurology appointment, hopefully this week. In the mean time, we wait. And worry.

We knew her condition was degenerative, but without a real diagnosis it's impossible to predict what degenerative would look like. I figured it meant she would eventually be unable to walk or her hand tremors would get worse. We could manage those. But not be able to eat? How do you deal with that?

It's hard not to think the worst. This is my child, and I feel fucking helpless just watching her suffer while waiting for the phone to ring. No matter how busy I try to stay, or how much I practice mindfulness and "stay in the moment," the fear crawls up my spine like a hungry tarantula. This roller-coaster is a bitch.

I don't know what will happen now. Maybe her eating problem will disappear on its own. She could wake up tomorrow hungry and eat a scrambled eggs without any problem. The MRI might not show anything at all. This could be just a weird thing that will go away in a few weeks. It's happened before; her hand tremors were terrible for a while and just as suddenly, the tremors improved. Why? They still don't know.

But whatever happens next, this is a reminder of just how fragile Queen Teen really is.

 Strap yourselves in kiddies, it could be a long, bumpy ride. 

MRI and Test Results

I got a call from the genetics researcher at Stanford who has been working hard to unravel the mystery called Queen Teen. A few months ago Queen Teen had blood drawn while under anasthesia for an MRI. The researcher had uncovered two new tests that might pin-point the cause of Queen Teen's shrinking cerebellum, hearing loss, and visual impairment. The hypothesis is that she has a Mitochondrial Disorder and there is some evidence to support that, but so far no one has been able to diagnose a specific disease.

They couldn't do it this time either. As usual, the tests came back "normal."

The researcher sounded apologetic about the results, but I wasn't surprised.

"It's what I figured would happen," I said.

"She's still part of the research study, and they can examine hundreds of strands at a time instead of just a few," the researcher said, trying hard to give me hope. "If they find anything, I'll let you know."

"Thanks. I know this isn't your field, but is there any news about the MRI."

She said she thought that I would ask her that question, so she was prepared. The MRI report stated that there was no apparent degeneration as compared to her last MRI, which means it looks like the damage to her cerebellum has slowed down. Yes! When we go to the neuro-genetics clinic in November we'll be able to find out more specifics, but for now the outcome looks good. Why has the degeneration slowed or stopped? Is it the CoQ10 and other amino-acids? Maturity? Has the disease reached a plateau?

So many questions and probably never any real answers. It's okay. We're used to it. Sometimes I think it would be nice to have a clear diagnosis, one that would fill in the blanks and tell me what we're dealing with and what will happen. It might make it easier to prepare. But on the other hand, I'm glad that everything is still up in the air. We just take it a day at a time.