Monthly Archives: February 2015

Spared The Eve Of Rare Disease Day: The Effects of Everything

It’s been 5 years since our last daughter Addison was born still, the breast cancer came and my mother died.  There are still events of that year, I am trying to mentally process.  Two weeks into my chemo therapy, our family learned we were one of the first in the world to pass Campomelic Dysplasia to our children.  It was never thought of as autosomal dominant disorder.  Our family proved that wrong.  I did what I needed to for survival.  I had the help of friends.  Diner still needed to be cooked.  I had work.  My daughter had kindergarten homework to be done.

In the past two weeks, I was reminded of one of the events leading to my diagnosis of breast cancer.  Our family was very close.  It began to fall apart after interaction with a doctor about 9 years ago, who had his own personal revenge agenda entered our lives.  I was totally not aware of what my brother had done. All of a sudden, I entrusted the wrong person.   Then, I decided I wanted another child, when my daughter was 11 months old.  My sister-in-law began to have children as well.  My story became one miscarriage after another.  Now the miscarriages were happening at 18 weeks.  She had 3 kids with one miscarriage.  I went back to work full time to get childcare to get fertility treatment.  Worst of all, we had to pay for the medication co-payment because my husband’s insurance for prescriptions was from a non-mandated state.  It was during the last recession.  We have fallen apart.  Months go by without a word from my in-laws.  Last week was the anniversary of my daughter’s birth and death, my phone never rang.  I had no emails either.

In 2010, a few months after Addison’s death, my mother-in-law lost most of her hearing and they saw a tumor. It did not register with me at the time this was another rare disease.  This was literally weeks prior to my breast cancer diagnosis.  We were trying to figure out how another baby died from Campomelic Dysplasia.  When we had good news my mother-in-law did not have cancer, my lump was discovered.  Many doubt it was cancer because of what happened with her.  Unfortunately, I was not spared.  I didn’t ask a lot of questions.  My husband was diagnosis with hearing loss.  All of sudden, I was told it was Neurofibomatosis Type 2.  Thankfully due to the copy function on the computer, I can spell.

I find myself struggling with the anger of it all from that year.  Why didn’t my family help me?  There was little warmth for me.  No one appeared to care another baby died.  No one cared how many cancer treatments I had.  I came home and I went to work.  My body was wacked repeatedly with infections, because I wouldn’t rest.  I also found my mother dead from natural causes.  I began to question in light of everything if there was a heaven and a God.  All of sudden last weekend, I am reading about another rare disease in the family.  The more I read, the more I worried about my living daughter.  There hasn’t been a lot of kindness since the cancer.  There are doctor appointments and appointments at the fertility clinic.  I found myself asking friends for help to appointments, so I am not alone.  This week, my husband had an MRI of his head.  It was on the tip of my tongue to say, “I’ll go.” I fought it and fought it.  The morning of, I did choose to go.  I sat on the couch fearing for our family.  I keep waiting for the disaster to happen again.

Today, we got the good news.  No tumor was seen.  I still wonder what this has to do with my daughter’s health someday.  This Neurofibomatosis Type 2 is genetic.  It’s autosomal dominant disorder.  He has decided to go to my ultra sound appointment.  My pregnancy ultra sound appointments are tough.  It was due to routine ultra sounds, we learned the baby died.  I don’t think I should go alone.  I know at the next appointment, he plans to come.  Maybe this will start us on the right path.  Families should be there for one another.  I can do it alone, but why should I?  I hear a lot times that people are busy.  People who live in 10 miles of me think it is attending by texting someone in the waiting room.  Take the time to go.   In the age of social media, let’s not forget the power of a hug in real life.  I have negative thoughts.  I have been pregnant 7 times.  Five ended in loss.  I am in the second trimester where most of the losses occurred.  I am walking this and walking it alone.

My biggest concern having lived through loosing two children with a rare disease is mental health services for families.  Genetic disorders are taboo.  It never happened.   Too often families are left to find their own resources.  Genetic testing is not so cut and dry.  We are living beings with emotions.  No one gets over the results of their genetic tests in the speed that their fast food orders are delivered. In the age of medical advancement, let’s not forget the emotional dimension of being alive.   I am glad that there is one day a year no family needs to walk alone.  As living beings, we are compatible of so much good in life….


Where I Am At (Pregnancy Update:)

This time of year is hard for me.  Although the emotions are not fresh, this past weekend was the anniversary of my first daughter’s birthday and death date.  I grew up in a family, who was not emotional available for me.  Shortly after her death, my family held me at fault for choosing to give birth to her.  Over the years, I see I married into the same type of family.  So last week was pretty hard for me.  I had an ultra sound appointment.  Lately, I have been trying to say my needs instead of harboring resentments.  I have a lot of doctor appointments being a cancer survivor and pregnant.  I have started telling people the truth.  Most of these major appointments, I am by myself.  I see people with huge families that care…  Sometimes, I say to myself, what have I done to not have one?

My heart is sad that after years of struggling with knowing my husband was loosing his hearing that the doctors proved I was right again.  I have had people tell me that the whole issue with me was not his hearing, but that I am failed at meeting his needs as his wife.  For years, we would argue about this.  It was like dealing with my mother repeatedly.  My mother you could see the medical issues, but she wouldn’t do anything about it.  In between two meetings at work, I learned that I was right all these years.  His own mother has this Neurofibomatosis Type 2.  He needs a head MRI to see if this is his diagnosis.  Well, sounds like someone has a medical appointment.  I texted him, “just tell me what day, I will go with you.”  It was attempting to say nothing of the sort.  The next day, I went to my fetal ultra sound alone.  There is a apart of me filled with resentments.  Eleven years ago, he was at every prenatal visit.  Ten years ago, he was at every prenatal visit.  Somehow we changed.  Some of it is functional, someone has to stay with our daughter.  It is tough with little extended family involvement.  I will not take her because we have heard too often the “baby died.” Thankfully, she was a toddler when something like that happened.  I vowed never again.

I am 40 now.  I grow tired of wishing and wanting.  Neither wanting or wishing doesn’t change anything.  I can either sit here and let the resentment build or reach out.  I don’t like my church.  Very few people did reach out to me, when I had cancer.  My daughter has her friends.  So, I joining a spirituality group at another church.  I am doing some outside activities.  I did not fight cancer to end up alone and isolated in life.  I am old enough to take my own action.  I see parts of my life that need to change.

I am not ready for big announcements yet.  I am 12 weeks.  This month is about our first daughter.  It is about raising awareness for Rare Disease Day.  I am hoping to make a big announcement on my birthday next month.  Ten years ago, that’s what I did with my daughter.  Somehow, I try to connect the two pregnancies.  Problem is I have the best support from the few that know.  My aunt continues to tell everyone for me.  I know she is doing it so people are praying.  Somedays, it gets on my last nerve.  My birthday has had a lot of sad events.  Last year, I decided I didn’t want to celebrate it.  I will make a decision soon.  This one is due September 1st so I am not sure if it is the right time.

The other news of last week shocked me.  I need more frequent ultra sound do to an ovarian cyst.  The baby is doing great.  This one like to play with his or her legs.  Most of babies loved to play with their hands as caught on ultra sound.  This one sticks a leg in the air as if he or she is warming up for exercise.  Everything is okay with the baby.  The news of my husband the night before increased my anxiety.  I am always looking for the bad things to happen.  I had visions of the cancer returning.  It ends up, they think my body is ovulating while pregnant.    Years of fertility treatments now my body just decides to mass produce eggs?   I tried so hard to make those eggs work.  It’s a insult in a way.  The level 2 ultra sound is arrange for April 3rd.  I have been told that I will not be alone.  One of my biggest fears is being “alone.”  I do joke about retiring to become a hermit and take a vow of silence.  Trust me I am kidding.  Could you see me not talking for years?

I truly love New England.  The piles of snow are getting to me. Last week, I humored myself by envisioning it was all powdered sugar or frosting, which I did as a kid.  I am leaning towards a vacation outside of New England.  Somewhere where the snow can’t follow us.  My daughter wants to see Washington DC again.  I am not told my boss about the pregnancy.  I need to them first then announce.  I did put my vacation request in for the April vacation.  The school systems are talking about taking this vacation back, if we have any more cancellations.  I can’t take my daughter out of school, because she missed a week in September so we could travel to the west coast for fertility treatment.  It would be illegal at this point.  This is correct.  Her education is first.  I want to talk with the OB GYN because DC is a lot of walking.


I started my embryo donation journey because I was tired of trying to fix broken things.  I crave many things in my life.  When my mother died, I lost the one person, who genuinely loved me.  As my journey goes, I see other broken parts of my life.  I keep trying to glue them together.  They utter promises that I know will never be kept.  So it boils down to this, I did this all for me.  Words were uttered but not really meant.  If someone else had been diagnosis with cancer…  I would have been there every step of the way.  It really doesn’t help anything.  I want my life to be different.  Arguing with this person goes no where…  It’s like this…  Either I continue this path of why not me or accept it and I save myself.  The why me path seems a continuous loop of insanity.  Nothing gets changed.  Everyone’s unmotivated  inventories get taken.  So back to the basics of a 12 steps program (Alateen saved my life as a teen).   They are going to change for me?  Or, am I going to change for me?  It’s more than arguing because we are snow bound.  A friend is in quite a bit of trouble.  It’s not clear if he relapse, which added stress to the weekend.  Outside of my friend, this coldness has been happening for 3 years now.

First the cancer. I learned how to walk alone.   Now the pregnancy, trust me my soul is strong.  I know I can do this.  Ultra sounds are a frightening experience for me.  It was routine ultra sounds that discovered the baby died mostly in the second trimester of 3 of my 5 losses.  I have to go by myself this week.  My daughter is home on vacation.  Only one family could help but they won’t.  A friend who knows my situation asked me how I walk this walk alone.  I responded that I live in a fantasy world without visiting hours for outsiders.  I live in my own meditative state.  The reality of my life scares me.  Well, I am going to try to sleep.  I am entering the second trimester…  I am hoping my heart won’t be broken.  Today, it’s official I am 12 weeks and I am scared.  So Thursday is the ultra sound.  Long term, it is like this.  What do I want?  How would I feel if my daughter was in this situation?  Depriving someone emotional is a slow silent painful death.

My first family told me so many ways that I did not matter.  I am 40 and I know better.  So, she is going to save herself again.  This time, it will take time to dig my hole out.  The whole embryo donation took a year to get here where I am right now.  At points, it was like tearing my hair out.  So maybe the person, who uttered the promise will follow through…  If not, I will start this new journey the same as the last.  I am tired of fixing broken things that can not be fixed.

Pregnancy Journey: My First OB GYN Appointment

In the past three weeks, our state has had three different snow storms.  Each storm has dropped about two feet of snow.  One of those storms happened today.  Last week, I started having pressure and difficulty associated with a pregnancy problem I have had almost died from before called a Incarcerated Uterus.   When I was pregnant with my living daughter at 14 weeks both of our lives were jeopardy from it.  Basically, I have a tilted uterus, which many women do.  The uterus tries to correct itself.  In the process, it traps the bladder thus you can’t totally empty your bladder.  It’s very different from a bladder infection.  Before I had gone to the ER 3 separate times at the hospital my daughter was born at.   (This is one of the many reasons, I am choosing not to deliver there again.  I have lost pregnancies and babies at other hospitals.  I felt treated with respect.  I did not feel that way, when my living daughter was born. ) In the past one ER doctor told me my “biggest problem was I was anxious since my first baby died.” Then I was offered the hospital social worker.  The next day the pressure was so bad, I couldn’t sit at my desk anymore.  I slept standing up in a corner of my living room.  The doctors put a Cather for in week, because the urine had collected so much that my bladder was threatening to exploded.  I went to the OBGYN doctor instead of the ER, when it was discovered.

Pregnancy is not a “happy trip.”  I was anxious last week about history repeating itself.  Today, my husband dug the car out.   The doctor’s office was open.  It’s about 44 miles away from the doctor’s office.  I was also anxious about knowing the baby was okay.  Many of my miscarriages, the baby died quietly and a routine ultra sound in the second trimester would pick it up.  More than anything, I wanted to go and find out that I and the baby was okay.  I started driving.  I hit a ice patch on the highway and the car did a 360.  I was okay and to my surprise not a dent on the car.  I was an hour late for the appointment, but they could see me.  We talked about the threaten miscarriage, the embryo donation and a few other subjects.   She  gave me a emergency cather and she showed me how to use it.  She had to do an ultra sound, because she couldn’t get the heart beat due to the tilted uterus.  I got to see the baby again.

I had breast cancer on the left.  My nipple was removed.   We talked about breast feeding.   She told me the breast will fill with milk and gorge.  I have lost a few infants and I have had both breasts fill with milk.  There was no baby to feed.  I began to cry on the way home.  All of us, who have lost infants remember how painful both the emotional and physical symptoms are.  Now due to breast cancer one breast will fill with milk and I am going to experience this again for different reasons.  For once, I think I finally mourned loosing a functional breast.  So much happened in that one year.  The baby died.  The cancer came.  My mother died.  I have never fully mourned the cancer treatment and the scars it left.

Strangely, my GPS picked a different route for home.  It was a long way home, but I got here safely no issues.  I do like the doctor a lot.  I needed that reassurance today.

What It Feels Like To Be A One Of The First In The World: Rare Disease Awareness Day

The painting you are seeing is one of my favorites.  It’s called the “The Scream” by Edvard Munch.  Thanks to an art class at one time, I was exposed to this painting.  This person in the painting is letting out this awful scream and everyone else is just carrying on.  Shortly after my daughter was diagnosis with Campomelic Dysplasia, I would reflect how I felt like the person letting out the awful scream.  I stopped being a normal happy pregnant woman.  The child I carried was going to die before me.  I grew to hate the doctor appointments  and all the medical tests.  My first daughter must have sensed it. She would swim away during the ultra sounds.  I was also one of the first women to have a fetal MRI.  I had never had an MRI before.  It felt like being buried alive.  She sensed it.  It was like she was trying to break out.  I felt every movement.

We did what we could for our daughter.  I began to pray on the way to work and every meeting.  I begged for her life.  Surely God, you must hear me.  She lived for a day after birth.  I kept hoping silently she would pass away on her own in the NICU.  She fought.  When either my husband or I would go near her, she would open her eyes.  At one point she grabbed my finger and neither of us let go.  Here is  my condensed version of what Campomelic Dysplasia is.  It’s one gene in the body that leaves nothing sacred.  Every major organ was effected.  It is a type of dwarfism.  Both my children died from undeveloped lungs in a bell shaped rib cage, which refused to allow the lungs to expand.

A month after her death, people told me to not talk about it.   Babies aren’t meant to die.  I had breast milk and a healing C-section.  My shoes were lost in the hospital transfer.  I went home shoeless and babyless in February.  My family had their own dynamics to start with.  I had with my mother’s encouragement gone to college and grad school to make my life better for the next generation of this family.  Never did I think  I would burry so many of my own before my own death.  My brother and sister snickered at me about her death.  They were always emotional cruel to start with.  I was told to stop my crying, because I was told that the baby was going to die anyways.  They held me at fault for my own grief because I didn’t make the other choice.   My mother attempted to stand up for me.  I silently cried and just like the painting, the world went on without me.

I stay committed to all effected with rare disease in honor of my babies.  No one deserves to feel isolated.  No one deserves to cry alone.  The best way to help someone who is grieving is to support them and show them love.  We can’t silence infertility or genetic diseases.  By silencing the infant losses and infertility, we may be setting up the next generation to repeat the same loss.  If your heart is so sad, why would you let another generation suffer?  My living daughter does ask me if someday she will be able to have children.  It’s a hard place to live in.  I told her that when she comes to the point in her life to make choices that she will have a family to wrap their arms around her and carry her into her journey.  As for me, did I tell the few friends  I have in the real world are Excellent?

Rare Disease Awareness Day: February 1st My Birth As A Mother With An Understanding Of Rare Disease

At one point in my life, I was innocent. My husband and I married my last year of grad school in 1999.   When I was 28 years old, we began to talk about starting a family. Let’s do the math, that was 12 years ago. I am 40 now.  I was a perfectionist of sorts at this age. I visited many churches to find the “right one.” I look at what needed to be done. I changed my life style. I had my dental work done. I had a physical.  I met career goals.  When we got pregnant within two cycles, I had no idea of loss, rare disease or infertility. I began to hand make items for the “baby.” My mom had a miscarriage. My grandmother had lost a baby. (My grandmother had RH negative blood.) There was no treatment. The doctor told her she would never have children.  She had an additional five girls.

So, when I got pregnant the first time, it was a done deal in our minds. This was the only pregnancy where I journal to the baby. Here was my journal one week prior to us learning our baby had multiple birth defects and she was going to die. “11/06/2003 I am starting to wear maternity clothing. It’s annoying the clothing is big right now. My normal clothing is too tight. I can’t wait for the ultra sound next week. I think about seeing you a lot. ”

Around the same time as I found out that I was pregnant, we decided on a second honeymoon.  My husband and I never had time for an official honeymoon due to my grad school class resuming within days of the wedding. We went for an overnight in NH, but we came back in time for me to start my class. When I was pregnant with my first daughter, four years had past. We save money to go to England before we had kids. My husband’s grandfather had come from England. It was just on my bucket list to leave the country someday.   For some strange reason, I failed to mention the day after the ultra sound, our plane was leaving for London England. My brain was fixed on seeing the baby. I can see us in the waiting room in my memories on November 13th 2003. We had no idea what was going on. None of the tech’s behaviors indicated there were problems. My doctor told us. I can’t remember the exact wording. I was told there were multiple birth defects. I was told that they didn’t expect my baby would go to term or live. I was told that I could miscarry at any point. Upon this news, I began to horribly scream. The scream came from my soul. I lost my innocent view of pregnancy. We were sent to Boston immediately.  He drove to the hospital.  We got lost because of road changes since I was raise there. We fell into each other’s arms apologizing for any wrong doings in the past and all fights. I can’t remember all the memories. We went home. We were in shock and disbelief. We still had those plane tickets. I took the ultra sound pictures and misplaced them. I went into the baby’s room and began to tear it apart. (No history of ever doing that.) My husband and I did reach a decision at some point to continue with travel plans. My reasoning was if the baby is going to die, then get on the plane and show them the world. I couldn’t sleep. I would wake up in tears. I took the folic acid six months in advanced! What did I do wrong! I was so desperate to gain control of this rare disease.

Today, years later there are behaviors I won’t do that I did before.  I refused to have my pictures taken at any point of the pregnancy.  My family had their opinion.  My in-laws had their opinions.  My friends had their opinions.  After her death, many friendships would end.  Many relatives would leave.  Some did come back for the birth of my living daughter.  They could not respect our views to raise her to know she had a sister.  The agenda of others and this family collided.  My living daughter had become a pawn in everyone’s agenda.  She was not everyone’s agenda.  In her wellbeing, I had to make decisions quick.  Nine years later, she is unaware of these decisions.

Our world had become filled with geneticists and fertility specialists.    Six years later, we were told our answer for recurrent pregnancy loss.  I was a social person before this.  I slowly grew quiet, because everyone has an opinion.  Sadly, no one seemed to realize it was our choice as the parents. I had family members telling me that I had no right to cry because “you knew she was going to die before hand.”  As if people do not cry, when they see a loved die from a long term disease.

I found pen pals within the rare disease and infant loss community. This year, she would be eleven years old at the end of the month.  Our grief comes and goes.    When I cried within the first year of her death, others told me it was all for the “best.” Who’s best?  A child’s place is with his or her parents.  You pick names and nursery themes.  Never would have I thought that I needed to pick a place to burry my baby.   I had never seen a human die in my life.  A day after my daughter came into the world, my husband and I collapse hands together and we held our first born daughter until she died after life support was stopped.  I was flooded by memories.   I reached out to friends and relatives.  No one understood we were traumatized by her death.  They couldn’t understand the reason the sight of a baby made me cry.  Just look at our pretty baby.  It took time for me to be able to separate watching our daughter die from other infants.  People expected me to be over it, since she was buried months ago.    For years, I avoided the roads that the ambulance traveled on, when I was being transported to Boston.  I am now able to drive down these roads.