Tuesday, July 4, 2017

Year Two

We have entered the second year without our Lacy.  The anniversary date of his passing was very difficult.

The year mark made his absence that much more pronounced.  This is real, and this is permanent.

We are also talking about him more, and the memories include so many happy ones.

Lacy loved to watch the clouds.  He was a weather "nut."  He knew the names of clouds and could identify them by sight.  For years, he would pour over the weather books we bought for him.  I find myself watching the clouds and thinking of how he would examine the skies and tell us what the cloud formations meant.

National Geographic magazines where his favorite reading material.  He like to collect them and put them in order by date.  He could pick one out of a stack of 10 or so and turn to a page that he wanted to share.  He memorized the covers and could tell you what month and year it was published.  One of our friends reminded me this week that when we went to visit, Lacy would organize all her magazines by date.

"Did you know..." preceded Lacy's often amazing knowledge of facts and trivia.  He knew who wrote and performed all his favorite worship songs, and the dates the songs were copyrighted.

It is these reminders of Lacy and his uniqueness that gives us a bittersweet joy and we enter year two without him.   We had so many challenges, and such struggles throughout his life, but he was our greatest joy and taught us so much.  We are thankful to God that He chose us to be Lacy's parents.

We miss our boy, but what a blessing he was to us, and how he enriched our lives and the lives of other people.

Saturday, June 17, 2017

To test or not to test? The gamble...

Many people unfamiliar with HD wonder why anyone wouldn't want to know about their genetic status.  Surely people want to avoid passing the gene on.  Surely you'd want to be able to make plans.  But the reality is that finding out - without a doubt - that you will develop the "cruelest disease known to man" is not an easy decision.

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The decision to test our son, Lacy, was made when we began to realize that the changes in his personality and health HAD to be Huntington's Disease.  We had known when we adopted him that HD ran in his family - his maternal grandmother had the disease - but we put this knowledge to the back of our minds and we worked to support Lacy in being the best he could be in all areas.  We were advised not to seek testing when he was young, and this was a great advice.  The specter of HD would have clouded everything we did, and every push to help him rise to his best self.

However, ours is not a typical story.   Alys, Lesia, and Drew have different takes on the testing issue.  The decision to test is a personal one, and we cannot ask those at risk to make decisions that may alter their lives in ways they cannot even imagine.  A person who decides to be tested for HD must undergo months of counseling to determine if they are ready to hear the results.  The incidence of suicide among those testing positive for HD is high, especially in the early months and years of diagnosis.  Doctors will not put someone through the agony of testing if the patient is not ready emotionally and mentally to know their genetic status.  Even after a person is tested, he or she is given a choice to hear the results or to leave them sealed for only the doctor to know.  These results are not shared with anyone without a patient's permission.

Lesia Fry has chosen not to be tested.  “I am afraid to know.  I have a daughter who is 16 and I just want her to be a regular teenager without worrying about me or about herself.  There is no cure so why [be tested]?  If I have it, it will soon be clear and I will deal with it then.  I am 44 and seem to be symptom free.”

Drew Earls was conflicted about testing.  “My wife wanted me to get tested before we had kids, but I wasn’t ready.  At that time pre-existing conditions with insurance was a problem.” However, the idea of testing – and knowing – was also frightening for Drew to contemplate.   Eventually, Drew felt he was ready to cope with knowing his status.   “I finally felt spiritually strong enough to deal with the results.”  Drew’s test was positive.  He and his wife, Kellie, have two young children who are living at risk.

Alys Bloch and her brother decided to go through the testing together earlier this year. Both tested positive for Huntington’s Disease.  “We chose to get tested because we were both ready.  [My brother] was ready to think about starting a family with the woman he had been dating for a few years.  I decided we should rip it off like a Band-Aid and get all of the pain done at once.”  Alys says she feels it is a blessing to know her HD status.  “The bright side is [my brother and I] have vowed to have kids in ways that stop this disease right here.  We are done with this monster in our family.”    Adoption and in-vitro fertilization (testing embryos before implantation) are possible options for Alys and her brother.

“To somebody who does not know about HD, God bless you,” Alys says.  “I wish that was me.  I wish that was me so bad.  Please educate yourself and others on diseases [like HD] that are under the radar.”

For Drew, it’s the research he is most positive about.  “Research is very important.”  He is counting on a cure for his family.

Lesia sends this message to those who do not know much about HD: “This disease and its effects on families needs to be told.  I don’t know how to educate people more, but I would like to.  I just can’t get into it that much cause it depresses me so much if I do.  It makes you feel helpless.  My dad died from cancer at 52.  I would welcome cancer, or any other disease in my life, before HD.  That says it all if you ask me.  I beg to get cancer, diabetes, whatever over HD.”

Tuesday, June 13, 2017

Drew - Hoping for a cure

The importance of search for possible treatments or a cure for Huntingtion's Disease is the one ray of hope for the hopelessness of HD.  Because the gene mutation has been identified, and we know what happens in the brain of a person who has this gene mutation,  a cure is theoretically possible.

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Drew Earls is a young husband and father who lives with the knowledge that he has the HD genetic mutation.  Although HD ran in his family, it wasn't until he was a young teen that he was made aware of that genetic history.  His maternal grandmother was diagnosed shortly after the genetic test became available in the mid 1990s.   

"Everyone thought she was crazy,” Drew recalls.  "My grandmother was an angry, bitter person, and my mom did not have a good relationship with her."  Because of their estrangement,  his mother did not find out about the diagnosis until well after her mother had been tested.  

Drew didn't see his grandmother much, but he believes that her anger and bitterness was a symptom of HD.  This change in personality and behavior common in HD can create an environment in which communication about genetic issues is nearly impossible.  

For Drew, the possibility of a meaningful treatment or an actual cure is one he firmly believes he will see in his lifetime.  His mother has been in  a drug trial program and has seen improvement in her symptoms.  Drew himself is hopeful to participate in a trial soon.  Because he is young and healthy, he hopes to qualify for a number of studies.  

"Research is very important to me and my family," Drew says.  He is counting on a cure.  

Saturday, June 10, 2017

Living with HD - Alys


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One of the biggest sources of guilt and conflict is the caregiving aspect of Huntington's Disease.  Even though Lacy had lived away from home for many years, I was often plagued with guilt over not caring for him daily.  He was in a great nursing home, easy for us to visit, but for other families who try to keep their loved ones at home, there is much frustration and guilt and the decision to move their family member to a nursing home is not easy.  The story Alys Bloch tells is typical for many families.
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Alys Bloch was initially perplexed about the symptoms that plagued her mother.   “I found out that HD ran in my family when my mother started showing symptoms when I was about 8 or 10.” Alys recalls.   Alys and her brother wondered what was going on, but the siblings weren’t given much information.  “Unfortunately, we were only told that my mom was sick - no further details.  It wasn’t until we were old enough to understand that it really made sense to me.”  Gradually, the siblings became aware of the presence of HD in their family.   “Two of my aunts had it as well, so there was no hiding that it was genetic, that it came from a family gene.”

--> In HD families, the younger generation often takes on the caregiving role, even though they, too, may be at risk for developing the disease.  Caregivers who are at risk watch their grandparent or parent succumb to the disease, and wonder if they are seeing their future as well. 


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“I was my mom’s closest caregiver for the last couple of years she lived at home,” Alys explains.   “She counted on me the most, and that was ok.  I enjoyed making sure she was comfortable and our bond is stronger than ever.”  But Alys admits that she felt frustrated watching her mother’s decline and sometimes that frustration boiled over.  “There were times when I was so mad,” Alys says.  “Why couldn’t she [do things] on her own?  But [Mom] understood where I was coming from…that was my least favorite memory of taking care of her.   And when it was time for a nursing home, [the decision to move her] killed me inside.  I still struggle with not taking her to the bathroom and getting her ready when I visit her.” 


Friday, June 9, 2017

Living with HD - Lesia's Story

In the next series of posts, I'll be telling the story of three people who live with, or are at risk for, Huntington's Disease.  
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An HD diagnosis affects multiple generations.    Each child of an affected parent has a 50/50 chance of inheriting HD.  Those who test positive for the defective gene will develop Huntington’s Disease and some families lose whole generations.

Our family has received support from the international HD community.  We’ve attended the Huntington’s Disease Society of America yearly conference where HD families connect with others around the world.    We’ve also joined the Facebook page Huntington’s Disease Support – The Good, The Bad, and The Ugly.  Through these services, we have met Lesia Fry, Alys Bloch, and Drew Earls (psuedonyms).    These friends have shared their own journey as their respective families deal with Huntington’s Disease, and have agreed to allow me to write about their experiences.

Lesia spent years trying to get help for her mother. “We knew my mom had maybe a stroke or something.  She has been very odd for about 15 or 20 years,” Lesia told me.  She had no idea that there was a genetic component to her mother’s illness.  Lesia detailed her quest to find out what was ailing her mother.  “I first went to her primary care physician ten years ago.  He referred us to a ‘renowned’ local neurologist who told me my mother must have a B-12 deficiency or something.  He sent me home saying to look up ‘chorea’ on the internet, and gave us a prescription for a head PET scan.”

That night Lesia said, she “went nuts” looking up chorea.  What she found was frightening.  “It led me to [the possibility of] three different diseases.” Lesia automatically ruled out two of them, leaving only the third; Huntington’s Disease.   “The symptoms read like they had lived with my mom for 20 years.  I knew that was it.”   

While Lesia thought she had a good case for the doctor to pursue testing for HD for her mother, the doctor insisted she must be wrong.  “He told me there was no way it was HD, that I had to be wrong because of the late onset.  I called multiple times saying it wasn’t late onset, that these symptoms had been going on for years.  He never listened.”


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Lesia did not give up.  “I found the University of South Florida HD Center of Excellence.  I emailed them and they immediately responded.  The asked me why I thought my mother had HD.  I told them about the last 20 years with my mom and they made an appointment for us.  They agreed to test her.”  Six months later, Lesia’s mother was diagnosed with Huntington’s Disease.