Our Family Curse – Does it have a Name?

From:  Tracey Jennings
Sent: February 26, 2011

We were on our way to San Francisco.  My brother and two older sisters had moved out of the house and the only two children left were my little sister Deborah and I.  My mom divorced my dad and it was time to move on.  She said “don’t be sad”; it was a new beginning for us. What my mother didn’t know was that it would become the start of an endless curse…. 

My mom seemed happy living in San Francisco.  She fell in love with my stepfather, Allan and we had a baby sister Christina.  The happiness was short lived when months later she went in for brain surgery.  They said her headaches were caused by a blood clot and it had to be removed.  She had partial paralysis after surgery and never fully recovered. 

Then one day I get a phone call; my older sister Doreen had an accident while on vacation.  Back at home, she was having extreme headaches and her head was swelling due to blockage in the spinal column.   I will never forget the date, October 31, 1989. I drove all night so I could see her before surgery.  They removed a colloid cyst deep within her brain. My sister Diana and I clung to each other for hope and reassurance that Doreen would come out of this okay. 

Several years go by and then suddenly my older sister Diana started having seizures like our mom.  At UCSF, they removed a cryptic malformation.  As my sisters and I waited patiently, it was becoming all too familiar seeing a family member coming out of surgery. 

Another few years go by and it turns to my brother, Kenneth.  In 2000, my brother was a pilot for the National Guard.  After having a seizure at home, they grounded him from flight duty.  They found several cryptic vascular malformations in the brain.  Knowing my brothers’ strong desire to continue flying, the doctors knew they must remove all the lesions and be seizure free in order to fly again.  But it wasn’t possible and he has not flown since. 

My mother has six children and the oldest three had brain surgery.  Surgery to remove lesions that seem to have their own names!   As we started linking it together, the one fact remained – our children were safe, it seems to affect us after age 42. 

Even that proved wrong.  A year after my brother’s surgery, his daughter Tessa, age 9 had a seizure at school.  She had the same type of malformation in the brain as her father.  Fortunately there was only one and was close to the surface.  

Then in 2004, my niece Kristyn, age 14 had a seizure at school.  My whole family gathered in a room at UCSF, to listen to Krisytn’s doctor.  He explained what she had was a cryptic malformation just like her mother, Diana.  It was thought these malformations were not inherited until now.  Families with a strong medical history were asked to enroll in clinical studies and all that was required was a tablespoon of blood.   

Medical technology has greatly advanced from when my mother had surgery in 1972.  My mom’s head was completely shaved and eight months in the hospital; while Kristyn had a few quarter sized bald sports and was released in three days. 

Within a year we got news that Florence, my mother’s niece in Colorado, underwent surgery to remove an arterial vascular malformation (AVM).  Like my mother, she had partial paralysis after surgery. Since I was the most familiar with my mom’s medical history, she looked to me for answers..  I knew I had to keep searching; but for what?  I had so many questions, but who do I ask?  Research on brain malformations was well on its way, but I still could not make any sense out of it. 

I came across this poem during my research.   I keep thinking of it, I have to write it down.  What does she mean? Did she come out of the surgery okay, I hope so….  

What do you see when you look at me?
Just another AVM that's labeled "grade 3"
If that's what you think if that's what you see
Please look again, because that's not all "me"
I'm a mother, wife, daughter and am a nurse too
I touch people’s lives just like you
So many problems this "brain stuff" so new
I have so many questions I think you would too!
How would YOU feel if this happened to you?
You hold up my CAT scan, diagnosis "its fine"
And then abruptly add "it’s all in your mind""
I'm busy today, got other patients to see
Once again, you haven't seen "ME" 
When you sit at your desk write a bill for your fee
I hope you remember, you still haven't seen ME
You claim so proudly "I saved your life"
But please ask my husband if I'm the same wife.
And please look at my kids when they want to play,
I have to tell them "mom's just not right today"
Once you have done this you will truly see ME,
It isn't so pretty I hope you can see
The next time you operate I pray that you see,
The person on the table could be you and not ME. 

By Kim Rueffer, AVM Surgery Survivor

During this time, my mother had a stroke and her disability worsened. Soon she required constant care at Laguna Honda Hospital.  My stepfather, sisters and I learned to adapt to her new living arrangement.  But my mother was never without a loved one near her side.  Allan, my stepdad was there during the day and at night my sisters and I would take turns.  But her health declined rapidly due to an unrelated cancer that had formed.  Time was no longer on our side.

I found Angioma Alliance, an organization dedicated to people affected by cavernous angiomas.  They are abnormal clusters of blood vessels found in the brain and spinal cord. They can bleed into the brain causing seizures, neurological deficits and stroke.  Cavernous Angioma is hereditary. It does not skip a generation and there is a 50% chance you can pass on to your children. Several families from New Mexico have been affected with this illness due to a specific gene mutation which has been passed through as many as 17 generations.

When I would pass near the hospital I would feel a pain of guilt.  What more could I do for her?  I sent countless letters to every research lab, doctor, you name it!  My emails didn’t make much sense but the cries for help were obvious.  One night I was driving past Laguna Honda Hospital, it was past visiting hours but somehow I felt compelled to see my mother.  The staff knew us so well and allowed me to see her.  It was strange, as I quietly walked towards her bed, I could see her sitting up looking at me.  It was almost like she was expecting me to stop by.  She smiled, it was great!  I didn’t realize how much I missed my mother.  She did most of the talking as I sat there in joyful disbelief.  She recapped her life’s adventure, unraveled the mysteries of her past and recalled treasured moment of her children.  We shared laughter and tears and then she became serious.  It gave me a chill the way she was looking at me as she talked. She believed it was a curse and now it was being passed to her children. She couldn’t bear to see anyone else suffer. 

But she was old, tired and wanted to rest.  She always praised me for being the outspoken one and pleaded with me to not give up and find what this ungodly curse was on her family. I sat there looking at her, not knowing what to say. Finally a nurse gave me a blanket and I laid down next to my mom for a few hours.  That was the last time my mother spoke to me clearly. 

With this new rage, I was determined to get some answers.  I desperately tried to get blood samples from her doctor.   But when your family is not enrolled in research, then no lab can request blood samples.  Where do I go from here? 

They said our mother had two weeks of life in her.  As the day was near, we were by her side.  Everyone was quite.  I stood there not knowing what to say.  I couldn’t help but think of that night we talked and what she wanted me to do. My family watched in horror and disbelief as I grabbed the doctor on call and pleaded with him our story and how much her blood samples were important to our family.  I knew they didn’t understand how I could be doing this at a time when her last moments of life should be peaceful.  As I headed to the nearest post office to ship the blood samples, my mother passed away peacefully among loved ones.  I couldn’t help but feel cheated and hoped my sacrifice was worth it. 

At my mother’s funeral, I handed out packets of information to my relatives about this illness.   Although, my mother’s tests results weren’t back, I explained to everyone the importance of genetic testing. Then, my sisters and I decided to take a trip to Penasco, New Mexico.  Our mother’s home town where she has two sisters still living.  We visited our aunts and a bunch of cousins.  I brought some information on the illness and where to get tested.  I soon found out my cousin Lucy was having seizures.  She seemed fragile and scared so I went with her to the doctors hoping to talk to him. I was so disappointed when I finally did see him.  I knew more about Cerebral Cavernous Angiomas than he did.  He said I was entitled to my opinion and then brushed me off.  I think he felt, I insulted him in some way.  Crazy, I thought I was helping!    

I got the results back from the Prevention Genetics, the only lab that tested for this disorder.   Our mother tested positive for the CCM1 gene mutation known as “The Common Hispanic Mutation”.  The following month I heard my cousin Lucy died in her sleep.  There was no autopsy done but my gut feeling is she hemorrhaged somewhere in her brain.  I wonder how her doctor felt when he got the news of her death. 

This curse has no compassion.  My baby sister Christina was planning her wedding, so I encouraged her to get tested. The results came a month later and she tested positive for carrying the CCM1 gene. This was a new path for me.   What should I do next?   Deborah and I were the only ones left; do we dare get tested as well? 

This is where it’s hard for me to understand.  I thought we had the upper hand for once.  Christina had no symptoms and yet we knew she carried the gene.  The day after her consultation with the neurologist, she experiences a grand mal seizure at work and was rushed to the hospital.  Test revealed she had a venous hemangioma, located in the left side of her brain and it had hemorrhaged!  She is 31 years old and her wedding is less than two months away! I couldn’t help but feel responsible and wondered….

Why my baby sister and why now?  We did everything right, isn’t that supposed to mean something? 

Tracey’s Journal – Revised 1/14/2008   

"Little Sister"

Hey Little Sister please don't fear
Diana, Doreen, Debbie and I will be near.

Don't worry about the surgery
it's going to be fine
will help you through it
and you'll heal in time.

Our Family carries this terrible curse
and I know you feel, it couldn’t get much worse
we hope someday, there will be a cure
until then Little Sister, you must endure.

Mom's not around to see your pain
but I’m sure she knows that you've been brave
She'll stand beside you.....

It's not fair to be so young
for your life has just begun.

Will carry you through these times of need
so that one day you'll plant your seed
and have a family of your own.....

We Sisters have been through thick and thin
and our love for you Little Sister will never end.... 

Given to Chrissy the night before her surgery.
By her sister Tracey   - May 5, 2008 

My sister Christina had a beautiful wedding.  For a moment’s time, we were able to enjoy the celebration and forget what laid ahead for her.  I knew what needed to be done, but not everyone felt the same way.  Especially insurance companies and doctors bounded by politics’ rather than health care.  Finally after getting thrown out of a few doctor offices, I was able to convince Christina that surgery was needed.  Dr. Lawton, a brilliant neurosurgeon at UCSF, performed the surgery and everything went fine.  There were no complications and she bounced back to being Christina, my little sister. 

It’s been awhile since I wrote in this journal.  I think because it exhausted me. My family has been through so much with this illness. I used to fear when or what I would be writing in this journal next.  I continue to receive the Angioma Alliance Newsletter for the latest research and updates on Cerebral Cavernous Malformations.  Their most recent issue had a letter attached from the President, Connie Lee.  Her work and dedication is amazing.   I can’t help but think of my mom and how important family meant to her. I think she would be happy to see how close our family has become.   Most people fear the unknown rather than embrace it.  Ignorance is a terrible thing to have.  Connie’s message is clear; making people aware and getting involved is a big step.   Should I send my story in?  Maybe one day we can look back and see an end to this terrible curse…. 

Tracey's journal - revised 2/24/11