Stitching through Butter

At first you are so grateful for a diagnosis, any diagnosis.?Then you wish you had never heard the word “AMYLOIDOSIS.”

My Mom came from a large Hispanic family.?Everyone lived long, healthy lives.?They grew up on a farm in southern Colorado, where my grandfather was a sheepherder.?They ate “organic” fruits & vegetables, and grass-fed livestock.?Her mother’s family of 8 all lived into their 80s.?Her father’s family of 12 all well into their 90s. How could she be dying at 65?

For a decade she had been complaining of weakness & fatigue. First, she couldn’t walk around Disneyland & sat on the benches watching us.?But who isn’t exhausted after a day at the Magic Kingdom??Soon, she fatigued when walking in Target & had to lean on the cart.?Cooking holiday dinners exhausted her. She couldn’t climb up & down a ladder to decorate the Christmas tree so instead she sat on the couch unwrapping the ornaments.?She tired when showering.?She had to sit on the shower seat & couldn’t hold her arms above her head long enough to wash her hair.?

“You just need to get into shape,” the doctors said.

Her hair began to fall out.?No one noticed as she had a gorgeous thick mane. But she kept saying, “my hair is coming out in my hands in the shower.”?Doctors dismissed it as thyroid problems & put her on Synthroid – even though her numbers were near normal.?She had already lost the hair on her arms, legs & underarms earlier, but this wasn’t a red flag even to the dermatologist.

“You’re obese & menopausal.?Your hormones are out of whack.?You need to lose weight,” the doctors said.

Her hands were numb & weak.?She would always stretch her hands out trying to relieve the tingling.?She wore braces on her wrists at work and went to physical therapy.?

“Of course you have carpal tunnel as you’re on a computer all day,” the doctors said.?

But when the first carpal tunnel surgery didn’t resolve the symptoms, the orthopedic surgeon chose to proceed, nonetheless with the second.?

“Just give it time; you’re a slow healer and it takes time for your nerves to repair,” the doctors said.?

Years earlier, she had gone to the ER when her tongue had swollen up.?Physicians attributed that to an MSG allergy from Chinese food.?Steroids fixed it temporarily.?The ENT specialist found nothing of concern. When the swelling slowly returned many years later, they checked her for mouth & throat cancer.?She was a lifetime smoker.?We cried celebratory tears to know she didn't have cancer.

“You have allergies,” the doctors said.

But that swollen tongue had resulted in MRIs & CT scans.?FINALLY!?They discovered she had a Chiari Malformation.?Certainly that is what was causing the weakness in her hands??Thankfully, a smart neurologist at Barrow Neurological Institute said yes, she had a Chiari Malformation, but she wasn’t having headaches, and it wasn’t causing her fatigue.?He didn’t believe that was her problem.?Instead, he referred her to a med school colleague who was a rheumatologist.

“You don’t need brain surgery,” this doctor said.

At the same time, she had discovered a lump in her groin.?A lipoma??A quick 30-minute surgery would give us answers. ??After 90 minutes in the OR, the surgeon came out to tell us they had called in a specialist as every time she tried to suture Mom’s incision closed, her skin tore.?

“It was like stitching through butter,” this doctor said.

The surgeon said she didn’t think it was a tumor but said she had never seen anything like the white mass.?They sent it off for a biopsy. Still no answers.

But that earlier referral to a rheumatologist was the first step.?He ruled out a sundry of inflammatory diseases but kept coming back to her tongue swelling. By now, the lateral sides of her tongue had indentations in it from her teeth.?Her bite had shifted from the inflammation.?She had difficulty chewing and swallowing anything but liquids.?

He didn’t know the answer, but he didn’t stop searching. He posted on medical boards.?He would call us after hours, asking if she had “x” or “y” symptom.?He was an investigator on a mission.?Finally, a colleague on one of those boards suggested acromegaly. But my mother was a beautiful woman, a Hispanic Jackie Kennedy. Her facial features weren't distorted, just her tongue. Finally another person on those boards recommended a fat pad biopsy of her abdomen and her tongue.

Ten years after symptom onset, that tongue biopsy was finally our answer.?Now with a clue, they sent the white mass off to a specialist at MAYO.?The white mass that had puzzled the surgeon -- the previously unidentified pathology -- now had a name.

“You have AL Amyloidosis,” this doctor said.

We now had a diagnosis, but not a diagnosis that anyone wants.?We sat in the rheumatologist’s office as he told us the prognosis wasn’t good.?Less than 5,000 people in the US have it.?There was little research and no viable treatments.?But he wanted to refer us to an oncologist.

“What? That’s for cancer. She doesn’t have cancer too, does she?”

The oncologist reviewed her thick stack of records.?He admitted in his 25 years of practice, he had never seen a patient with amyloidosis so he wanted to consult with specialists at MAYO & Cleveland Clinic. ?In the interim, he did a bone marrow biopsy and confirmed she also had Multiple Myeloma, which often accompanies amyloidosis.

She began chemotherapy for the Multiple Myeloma. The hope was to beat the MM so she would be well enough for a bone marrow transplant.?Her regimen was VAD:?Vincristine, Adriamycin and Dexamethasone. The DEX immediately relieved her symptoms.?She could swallow more foods & her pain felt better. But it also weakened her already amyloid damaged skin.

Amyloidosis attacks the organs.?For Mom, it wasn’t her heart or kidneys.?First it attacked my mom’s skin.?She had a five-inch-wide open wound -- from hip bone to hip bone. Everywhere where her skin rubbed other skin, she had open wounds. The wound in her groin still hadn’t healed. One day getting out of the wheelchair at the oncologist, she began to collapse.?My Dad grabbed under her arms to catch her.?He ripped off all her skin -- down to the muscle.

By now we had added wound care specialists to her medical team.

Just before her 65th birthday, she was coming to the end of her chemo regimen. Her numbers were improving. We were hopeful. But that hope was soon dashed.

She phoned me at work to tell me she had seen blood in her stool.?Waiting with her at the ER, she sat on a small, curtained off gurney.?She called for a nurse to use the bathroom.?She felt like she had gas, but before the nurse arrived, she started bleeding out.?There she lay in a pool of red blood on the gurney… so much blood that it was dripping on the floor.?I ran out to the nurses station. ?Nurses & doctors rushed in.?They hurriedly wheeled her into a private room in the ER and hooked her up to machines & IVs.?While they gave her a blood transfusion and tried to stop the bleeding, we waited until the wee hours of the morning until they had an available ICU bed.?

Every doctor we saw had to go do some research. Some came in out of intellectual curiosity. ?A team of young residents shuffled in to talk about her “case.” ?One resident asked if it was connected to Alzheimer’s as that was amyloid plaque in the brain.?Young & old, they all begrudgingly admitted, they had heard of amyloidosis in med school but had never seen a patient. ?That didn’t inspire a lot of confidence.

Later, at about 3 am, a new doctor came in.?He introduced himself without making eye contact, flipping through the pages on her chart.?His first words to her??

“Do you want a DNR?” the doctor said.

My Mom didn’t even know what a DNR was.?

“You know, if you die, do you want us to resuscitate you?” ?

As if it’s not enough of a burden to have a fatal, untreatable, rare disease that no doctor knows about, was it too much to ask for a doctor to have an iota of compassion??

Thankfully, the nurses in the ICU redeemed my faith in humanity and in the medical profession. They were her angels. And thankfully, Banner Thunderbird had a program where one family member could stay with a loved one in the ICU to provide supportive care.?I was there from 6 am to midnight every day for weeks.?Each new resident was intrigued as if this were an episode of HOUSE. Each new nurse had to learn about amyloidosis. ?After one nurse's aide tore her skin taking her BP, I knew I couldn't leave her side. I explained to the nurses what to do for her wound care and taught them about amyloidosis. Her care was excellent but most importantly, they provided her comfort. And eventually too, they provided me comfort.

My mom spent her December birthday in the ICU, and then she spent Christmas there too.

She loved Christmas and was heartbroken she couldn’t go home. On Christmas Eve, I didn’t want her to be alone, so I spent the night on a cot in her room.?On Christmas Day, even with dozens in our family shuffling in & out, she slept most of the day.?I stayed again Christmas night as I didn’t want her to wake up & be alone.?It was, after all, still Christmas.

That night, I took her rosary out of her hand & set it on the nightstand, wrapped around the glass crucifix next to her bed – just as I had every night for the last month.?At 2:45 am, I awoke to the sound of an alarm and a light flashing above her bed.?A dozen nurses & doctors came rushing into her room pushing a crash cart.

One of the doctors was yelling at me:?“She has a DNR. She has a DNR.?Do you want me to resuscitate her?”?

As I shook my head yes, one of her ICU nurses took her rosary out of her hand and gave it to me.?I looked at my hands holding the rosary … then back to the crucifix … then back to the rosary in my hands.?I intuitively started to pray the Hail Mary – not consciously realizing the ominous words:

“Hail Mary, full of grace, the Lord is with thee. Blessed art thou amongst women & blessed is the fruit of thy womb, Jesus.?Holy Mary, Mother of God, pray for us sinners, now & at the hour of our death.”

That was December 26, 2003.?What started as a mystery diagnosis, ended as mystery.

Later that December morning, my mother died of heart failure.?Amyloidosis took her life 7 months after diagnosis.?But her death began 10 years earlier, when no one recognized her symptoms.

Please share her story to help me raise awareness of this horrible, rare disease.?Please share so doctors so they will recognize these symptoms if a patient ever comes to them looking for answers.

October 26th is World Amyloidosis Day.

I miss you Mom.

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