Monthly Archives: February 2016

Rare Disease Day: Meeting With Genticist Gave Hope Some Hope!

My second daughter died from the same rare disease unexpectantly.  After our first daughter died from Campomelic Dysplasia, we did everything we were told to do.   It was not expected to happen again.  We found out Addison had the same rare disease the day before Halloween in 2009.  She died a week before Thanksgiving.  We had our blood drawn.  A tube of blood was lost somehow.  Months and months went by.  The unthinkable happened.  In May, I diagnosis with breast cancer.  They said we would never know who carried it.  We went to the RE and none of the fertility saving procedures were covered by insurance.  Our health insurance barely covered any of my breast cancer procedures.  It was a bad economy back almost 6 years ago.  My husband had to switch jobs quick to cover cancer bills.  His bank was owned by a foreign bank who barely gave him time for his daughter’s death.  They were giving him a hard time about time off for  my breast cancer surgeries.

That year, we survived one day at a time.  I had just lost my job, when I decided to go back to the hospital job.  I was there one month, when I was diagnosis with breast cancer.  The hospital helped me even through I had only been back a month.  There was not time to think these things out.  The family 11 months after the death of our daughter suffered another loss.  My mother died.  There was cancer treatment, work, kindergarten and our living daughter’s activities.  We also lost two precious pets that year.  When it was discovered our children were dying due to a dominant carrier, I was afraid for our living daughter’s future.  I did not save eggs based on cost and genetic information.

I am not a trained geneticist by any means.  I don’t want to get into long explanations that I am not qualified to give.  I am to focus on our emotional responses mostly.

There were several events that lead to our decision to go for genetic counseling.  My husband’s mother insisted she had NF2, which occurred a month prior to my breast cancer diagnosis.  I noticed my husband lost his hearing.  For years,  I asked him to have it check.  Finally he did last year.  He tells me about this NF2 disease.  I am reading and reading about this.  I am seeing major health concerns for Hope.   I was more frightened for our living daughter.  Our new daughter was conceived by embryo donation so she had no known risks.  I feared no one would marry Hope, our living daughter because of her being a possible carrier.  I worried  it was unclear if she would be a carrier.  We struggled as a couple about getting this appointment.

I don’t have a good relationship with mother-in-law.  My husband’s mother has now ignored me for years.  In our year of multiple losses, I begged her for help.  It wasn’t for me.  It was for my husband and my daughter.  She refused to take them for Thanksgiving, when Addison died because it would, “ruin her plans.” She refused to stay with us for my first chemo treatment.  I got tried of the “nos.” She knew my mother had some form of dementia and couldn’t help.  God bless my mother’s soul.  My mother would try to keep handing me money for me to buy myself something nice.  I couldn’t stop crying.  The first chemo treatment, I did awesome for the first week.  The oncologist was right.  I was struck by sickness and I laid on the bathroom floor of my house without any help within two weeks of the first treatment.  I literally did not know what to do.  I didn’t want to wake my daughter who was in kindergarten.  Somehow, I was able to get up and clean up after just sitting on the bathroom floor being ill.  In the mist, Hope had lost a tooth.  She woke up after it was clean up looking for the tooth fairy.  Mysteriously, a strange breeze came and even in my sick state, we saw the tooth fairy come.

I get stuck in the anger of that year.  Why weren’t you there!  I spoke weekly to my in-laws.  It feels like they choose their daughter over me.  Her wife and the daughter had three beautiful children. Two were born as we had the same due date, but I lost the pregnancy.  This has impacted my marriage in more ways than one.  We are not close.  I choose to peruse having a baby for me and Hope.  Since our daughter Joy was born, we are trying to put the pieces back together.

The fears of all those years were discuss in one geneticist appointment.  I did an outstanding job not crying.  It ends up the dominant carrier can not pass this to our daughter.  My mother-in-law still says she has NF2.  My husband only describe one benign tumor, which is not constant with NF2.  She would have more.  I wept a good long time last week even with this good news for all those years of worry.  The geneticist asked me to ask my oncologist about if I needed further genetic testing for breast cancer.  I have been in genetic testing for years now.  Honestly, I know our other daughter had to see a specialist and we have had a lot of illness in the house lately.  A good day is doctor free.   It’s the anniversary of the death of Avery.  I don’t want to do it.  Genetic testing has it’s own brand of grief.   It’s such a social taboo.  I worry about the mental health of people facing this crisis.

I officially decided to not take the new job.  I am working with my two jobs to arrange a work schedule to do what I love for a living and to be with my girls.  I haven’t told them yet.  My in-laws are so involved in my husband’s sister’s divorce.  It’s been months since they have said anything.  I stay focused on the girls and meditation classes.  I want functional peace.  I may never be able to be close to them again, but I want functional peace.  We have our good days and bad days.  I am hopeful….








The Importance Of Rare Disease Month

Many years ago, a woman said to me that she was surprised I remain focused on rare disease after years have passed since our children died.  When Addison had just died and I was diagnosis with breast cancer at age 36 years old, I made a promise to both children.  Every day, I hope someday for more cures and less bereaved parents.  I hope for more miracles.  I want to hear that if Avery and Addison had been born in the future that they could have done something.  I remain committed to anything to advocate for rare disease.

This month is befitting. Last year, I learned the family had NF2 as well.  It’s a disease where my husband’s mother lost her hearing.  Next week, Hope is finally after 3 months of waiting going to see a geneticist.  I hope everything is fine.  Joy was conceived with embryo donation so she is fine.  It has caused sadness and anger.  I hope we can continue on a functional level as a family.  I was highly criticized by some for deciding to take Hope to the geneticist.  I am not trying to divide the family.  I am strictly trying to keep Hope healthy.  If I am being overly protective, then I will be glad to hear she is okay.  Sitting and waiting doesn’t help me.  It’s like waiting for the shoe to drop.  Monday, I told my husband thank you for coming to the GI specialist appointment.  I am not trying to divide us.  We are trying to find some functional peace for our family.  It’s been a tough day already since both kids were ill and I have already needed to take time off.  It’s one more day, I had to take off.  I hope to hear that everything is fine.

The Afterlife Of Infertility Treatment

It was about 13 years ago, I started prenatal vitamins.  I went to the OB GYN, my regular doctor and my dentist to ensure I was healthy.  I had just reach a huge career goal after not passing the first time.  I looked at churches, I found one that I liked.  Yes, I was 28 years old and ready to have our first baby.  It’s like watching the Titanic victims line up to board the Titanic.  We opened this Pandora’s Box called we want children.  We found recurrent pregnancy loss, infertility, rare disease, male infertility, breast cancer and female infertility.  Somewhere deep in that box as the demons were freed our Hope and Joy stayed.  So, we got our dream.  For many years, my hobby was to plan and try again for another cycle.  My favorite motto: Everyday I am googling for a baby.  Maybe next month, next year?  Just keep praying.

One year went into another year and another year.  We broke medical history by becoming the first family to carry this awful disease onto our beloved babies.  We kept loosing babies late into the second trimester.  I spent 70% of my time trying to stay and get pregnant.  Now that our dream has come true.  I see the damage to my life.  I took jobs that I could take time off to get infertility treatment.  I put our daughter into daycare to have child care for  infertility treatment.  I work during cancer treatment because I didn’t want to loose money.  Sadly, we owe years of bills for fertility treatment.  Embryo donation was not covered.  Our daughter Joy was conceived embryo donation.  Our neighborhood has turned violent.  We never updated the house, because we needed the money for infertility treatment.  When my beautiful baby came to the world, I had to put her in day care to pay off the bills caused by infertility treatment.

I am still waiting to hear about the new job.  I have been waiting for this new job for months.  Last week, I went to my inpatient company’s party.  I worked full time at points over the past years and per diem.  I still work with kids commission style.   I am starting to wonder about this new job.  I am not getting Saturdays off, which is important to my daughter, who is on a dance comp. team.  I have no benefits.  I literally could take today off because my husband got his bonus.  I wonder are you settling for less?  Two weeks ago, I stop taking prenatal vitamins.  My baby daughter has been very sick with a chest cold.  She threw up repeatedly these past two weeks. We ended up seeing a GI specialist for her.  The GI specialist thinks it’s the cold and the baby is gaging herself, when she coughs.  She just got a nebulizer last week and she not coughing at night anymore.  I don’t know what the job answer for me is.  I worked so hard to get here.  I do have career goals, when I looked into both my daughter’s eyes.  I just want to be with them.  I want to be the mom that is there.

Today was an interesting.  It was the first uterine ultra sound without being pregnant or trying to become pregnant.  Thankfully, no Fibroids were spotted.  I have been having heavy bleeding during my cycles since having the baby.  My OB GYN thinks I will need meds to control the bleeding until menopause.  Every time I enter the state of Rhode Island, I see a sign that makes me sad.  It has a picture of a baby as a sign that there is a God.  I remember being infertile and burying our children.  If you are bereaved, some question God.  I love my babies Avery, Haven and Addison.  A piece of me died with them.

After 13 years of trying and hoping, I had a baby.  The roads of my life are open.  I see how much I gave up in my life in my quest for a baby.  I don’t know where to go.   I am keeping myself open to all the possibilities.