1 year anniversary of diagnosis day

 I remember one year ago very clearly.  We had appointment for Peter at Cleveland Clinic with a Retina Specialist.  We were hoping for clearer answers on why Peters visions was disappearing so quickly.  We planned to get lunch in Cleveland and go to one of the beaches by the lake afterwards.  I had trouble finding parking and had to back out of several interesting places.  In the waiting room between test and appointments we were reading “Odder” to him.  It is a book about a sea otter that gets lost and details his adventures getting back to his family.  

 

We were in the room with the retina specialist when we first heard the words Battens Disease.  He found the diagnosis when combing through his myChart file.  Our genetics specialist had buried the diagnosis in his file while she confirmed the results, her call would come the next day.   The doctor at Cleveland clinic said that the Batten’s diagnosis was consistent with what he was seeing in his retina.  He apologized to us.  He printed off a paper explaining more about Batten’s disease.  His look and demeanor told me it was not a hopeful diagnosis.  

 

I skimmed the first few pages of the paper while we drove to lunch and then the beach but didn’t really look at it in depth until we started our drive home.  Peter was in the back seat oblivious to what was going on.  He was listening to an audiobook.  I remember reading the phrase life expectancy late teens early 20s.  I remember throwing the paper into the console between Joe and I and sitting in silence.  I did not know how to process what I was reading.  My son had a life expectancy.  He would likely pass away before he was fully an adult.  Not only that, but in the years to come he would progressively lose all of his abilities.  His vision loss was just the first in the series of things he would lose until the disease ultimately takes his life.  Tears fell silently down my checks.  I was thankful that Peter could not see his momma face when he asked a question from the back seat.  Eventually I picked the paper back up and continued reading about this disease that would slowly steal my first born from me.  The paper detailed all the different types of Batten’s disease I started skipping over the parts of paper that described those, I couldn’t process it all.   The disease was genetic I learned.  Both Joe and I apparently carried the same mutation that when joined together has a 1 in 4 chance of resulting in an Batten affected child.   Peter had lost the genetic lottery.  

 

We arrived home and went through the motions of eating dinner.  Keeping up appearances or least at the sounds and motions of normalcy for Peter.  I still hadn’t been able to share with Joe the full scope of his diagnosis.  It was also the 2^nd Thursday of the month which for us meant our monthly board meeting.  I had already texted and asked for it to be moved to our home.  So we busied ourselves with preparing for that.  Trying to forget the new reality we now lived.  After the meeting was over and Peter was asleep I remember falling into Joe’s arms and again feeling the weight of it all without the distraction of busyness or the strong face of parenting.  I was 6 months pregnant at the time so my emotions on a normal day were heightened, that evening I was a mess.  That night I searched the internet for more information on Batten’s Disease CLN3.  There was not a lot of information but what there was gave no relief to the anguish.  No treatment, No Cure, Progressive, Degenerative, Seizures, Dementia, Terminal were all words that screamed at me from articles and stories I was finding.  I remember going to sit in Peters room and I just stared at him.  

 

Fast forward one year later, and the evening of May 12^th I found myself sitting and staring at Peter again while he slept.  It has been a full year.  We have tried our best to cram as much life as we could into that year.  There have been moments of happiness, laughter, and joy.  There have also been moments filled with questions, fear, frustration, tears, pain, and sorrow.  As much as we could we have tried to make the most of each moment that we have.  We have tried to do little and big things to enjoy the good times we have together.  With the help of our community and other organizations we have built a tree house, we went to Disney, we went back to Tennessee, we tried to fill as many days as possible with laughter, love and fulfilled dreams.  

 

One of those dreams was to write a book.  In first grade Peter started talking about being an author.  He has several stories he recorded or dictated on his iPad.  We thought it was a bit a fad that would pass but he continued to say he wanted to be an author.  So we started talking about what he would write about.  From there emerged the idea of telling the story of some of the adventures Peter goes on from the point of view of his white cane, marshmallow.  We worked on the story over a few weeks.  Peter took his story to school and people loved it.  Peters TVI connected us with a children’s book publisher.  And Peters dream of being a published author became a reality.  May 12^th, 2022 was a dark day filled with questions, uncertainty, sorrow and fear.  May 12^th, 2023 was a day filled with hope, with community support, with joy and excitement.  

 

Over 200 people filled the downstairs of the Loudonville library.  Each book got a stamp of Peter signature from 1^st grade and a Braille sticker that said Love, Peter.  There were pretzel rods decorated to be like mini marshmallow canes, there were braille and tactile resources for people to explore.  There was lots of conversation, laughter, and pictures.  It was an uplifting event where many from the Loudonville Community and beyond came out in support of Peter and his book.  It was wonderful to focus on making dreams come true and reminding people that differently abled doesn’t not mean unable.  Peter got to be a published author, have book signing, be on TV and will be in the newspaper.  May 12^th 2023 was filled with moments we will always remember.   When his Battens disease causes him to forget we will be able to remember for Peter and tell him all about that awesome day that it was.  

Choose Joy - Rare disease day

Today is Rare Disease Day.  A day I didn’t know existed until recently, nor did I understand its significance.  Rare diseases do not always receive the same press, funding, research etc. as more common diseases because the affected population is smaller.  Family members of those affected by rare diseases end up becoming advocates for and educators about the disease affecting their loved one with doctors, school, insurance companies, etc.  Often there is little knowledge or treatment of rare diseases.  So February 28^th is set aside each year to raise awareness and knowledge about rare diseases.   Peter is our rare disease hero, and I will gladly learn everything I can about our particular rare disease and advocate for a treatment or cure.  

If  you are interested here is a good fact sheet on the rare disease that affects Peter.  https://amicusrx.com/wp-content/uploads/2020/08/guide-to-batten-disease.pdf  

 

Recently I was a part of our community’s Ash Wednesday service.  As people went forward, I began to wonder how many of those receiving ashes would transition to ashes and dust before the next Ash Wednesday.  We often talk about not knowing what tomorrow will hold and this is true it is also true we do not know what the next year will hold. 

 

Sometimes I struggle with the ashes and dust part of our reality, specifically Peter’s.  This time last year our biggest struggle was learning to do life with Peter’s diminishing vision and not having answers to why.  Now we have answers and vision loss is only the beginning of the difficult things to come.  We have made shifts in how we live life, parent, and spend our time and resources.  Shifts that help to focus on the present moment and not get lost in the what ifs and whens of the future.  I will be honest some days I am really good at that.  Other days I struggle, I struggle with expectations, I struggle with planning for the future, I struggle with grief over what is to come, I struggle with anger, and a host of other emotions.  I am learning I am needing to give myself space and time to be there with those emotions, but I cannot stay there.  If I stay there then I am robbing myself of the present moment.  Worrying about tomorrow robs today of my mental presence, getting angry about the situation steals my focus from the life and memories happening right now.  

 

After reading a book of another mama’s story of her journey with her two sons with a different version of Batten’s disease I decided to have a phrase or a mantra or whatever you want to call it.  Here is the link to the book.  https://a.co/d/0AFpkkP 
My phrase is “Choose Joy”.  We always have a choice in how we look at a situation, in how we handle a situation, on how we remember something, I am striving to remember the joy of the past moments, to choose joy in my perspective of what is happening in the moment.   I promise it is a work very much in progress.  Sometimes the furthest thing from my mind is joy.  However, when I am intentional in allowing God to change my perspective, there is a peace that comes, there can be joy, happiness, and laughter even in the midst of the hard and difficult times.    

 

Jacob is mobile now; he is rolling and backwards scooting all over the place.  He has even started playing hide and seek.  See if you can find him in the picture below (I promise I always knew where he was and he was safe).   He is still toothless but very much teething.  He loves to watch his brother and our dog.  

 

Peter is doing well, continuing to learn Braille, and is doing well in school.  He is ready for the warmer weather so he can play outs
ide more.  But also wants it to snow so he can go sledding.  He has written a book and we are working to get it published.  

 

Until next time – Be intentional about choosing joy no matter what life throws at you.  

A full and blessed January

January has been quite the month for the Heath family. Just for fun we will work our way through backwards.

 

Jacob is now 7 months and rolling both ways and scooting and wiggling his way all over the place. He is also drooling pools and chewing on anything he can get in his mouth on. He has tried and loved almost all of the 9 foods he has tried. He watches whenever we eat and he

doesn’t understand when we don’t share. Cocoa (our dog) is also enjoying having another food dropper in our house. Jacob continues to be a joy and we are so thankful he is a part of our

family.

Our family has joined the pickleball craze. We received a pickleball set for Christmas. Joe and I began learning a few weeks ago and are enjoying a fun way to be active together. Recently, there was a two-hour late start for Peter and we had the court booked for 8:30 to 9:30am so Grandma and Grandpa hung out with Jacob as planned and Peter came with us to play pickleball a
nd loved it.

 

Peter continues to have his good days and not so good days. Most days are mostly good and for that we are grateful. He got his 2nd quarter report card and scores from recent testing.    Despite his challenges he has 3rd grade level reading comprehension and is on grade level for math. He is working hard at learning Braille.  He is not reading in Braille yet but he is working towards it.  He has learned almost all of his letters to both identify and type. He is now working on learning contracted Braille. He can type pretty fast on his Perkins Brailler. We are very proud of him and how hard he works. Peter had his 6 month appointment with his Batten’s team and he is doing well. The disease doesn’t seem to be progressing much right now which is great. Other than a cure or treatment, no progression is the best we can hope for.

 

The first week in January our family enjoyed a once in lifetime trip to Disney and stayed at Give Kids the World Village. It was a week filled with amazing memories, lots of laughter, joy and walking oh so much walking. Joe’s sister Joelle also spent the week with us. Jacob got to spend special time with Grandma and Grandpa H. Peter loves roller coasters that are 3’s, for  reference Thunder Mountain is a 3. He also loved the Slinky Dog ride at Hollywood Studios, and the Test Track ride at Epcot. Give Kids the World Village is an experience and a blessing all in itself. There was an ice cream pallor open all day. I think there was only one day we didn’t get ice cream. There was a wishing well, with the coins provided, that Peter loved. It made different noises when you threw the coins in (including burping). He got to go horseback riding and go trick or treating. There was a golf cart that delivered cookies and you could call for a pizza anytime. Peter also loved meeting Mickey Mouse. The Village had a special time that wish kids could meet and interact with Mickey, without all the crowds and lines that happen at Disney. While our time there was so special Joe and I both agree that we prefer Loudonville traffic over Orlando traffic.

 

Our wish trip was an amazing week that we focused on Peter and doing all we could to make it

a wonderful once in a lifetime trip. The amazing blessings of the trip (limited waiting, free

access to parks, etc) were only possible because of a life altering, life threatening, or fatal

illness. We met other wish families, who are struggling with their own diagnoses. Some

families were celebrating the last treatment and being cured, for other families there is no cure

and the trip was a needed break.

 

Just like much of life, January was filled with amazing blessings and moments of struggle.

The blessings outweighed the struggling moments this month and for that we are grateful and

will try to cherish those moments for the times that the struggles are greater.

 

We are so thankful for the support, prayers, and love we have received from our friends and

family. Peter may not have won the genetic lottery but he did win the best group of friends and

family a kid can have.

 

Until next time Choose Joy no matter if you are watching fireworks over a castle or watching

your dreams of the future crumble.

Make A Wish

 Make a wish.  

 

We wish on a star, we make a wish when we blow out the birthday candles, we make a wish as blow on a dandelion but I never thought I would be helping my son make a wish because of a medical diagnosis.  

 

We have been overwhelmed and so blessed by the out pouring of support we have received from our family, friends, and our local community since sharing about Peter’s diagnosis.  The tree house is built and has already brought hours of fun and laughter to Peter and his friends.  He loves showing his friends all the different elements of it and having lots of fun on it.  And we love the smile it brings to his face and the joy it brings to his heart.  

 

We have also been granted a wish through the Make A Wish foundation.  His doctors encouraged us to go ahead with the trip now while Peter is doing pretty well and can better enjo
y the trip.  Make a Wish actually has a Workbook that you do with your child to help them choose a wish.  The wishes are from one of four categories; something you do, something you have, something you want to be; something you want to give.  As we talked about we decided to let him choose something from each category and we would see if we could make all of the wishes come true over the next year or so.  

 

He wanted to have a treehouse and thanks to hard work of Joe, my dad, and several other amazing volunteers and your support he has a tree house.   He wanted to be an author and over the last little bit we have been working on a book called “The Adventures of Peter and Marshmallow.”  Marshmallow is what he named his white cane.  He wanted to go to Disney World and through the Make a Wish Foundation we are going to do just that.  

 

In January, we will spend a week in Orlando, FL at the Give Kids the World Village.  We will be able to go to the Disney Parks and Universal as well as enjoy all of the fun activities at the Give Kids the World Village.   We are looking forward to making some fun memories together and enjoying a care free week.  

   

I never dreamed that my family would be a Make a wish family, but we are that grateful we have been given this opportunity.  We are also grateful for organizations like Make A Wish that give opportunities for family with life threatening and terminal illnesses to make memories together as a family.  With all the heaviness that comes along with an illness it is nice to focus on happy things and memories.  

 

We did a treasure hunt with clues for Peter to find the Braille letters to spell Mickey to tell him about his trip.  Obviously, he is very excited and so are we.  Thanks for praying with us that we will have a wonderful trip and
make lots of fun memories together.  

 

If you missed our last blog post and are wondering what is going on please read our Blog post grace for the moment to better understand what is happening in life right now.  

Grace for the Moment

 Sometimes you get answers but they are not the answers you were hoping for.  

In our last blog we requested prayer that we would find out some answers to the cause of Peter’s blindness.  

 

Well we did find out an answer but it is not something we had ever heard of and wanted to know about.  

 

Peter has been diagnosed with a rare genetic degenerative neurological disease called Battens disease.  Basically his cells don’t deal with waste which causes the waste to build up and kill off the cells.  Vision loss is one of the first symptoms and followed by behavioral issues and cognitive decline.  Peter may also experience seizures in the next few years.  The disease will progress further but there is no set time line as each child is affected differently.  Eventually the disease will progress to where Peter is unable to walk, talk, or eat on his own.  Unfortunately Batten disease has no cure and unless a cure or treatment is found Peter will pass away from it in his late teens to his twenties.  

 

We are heartbroken but also trying to do everything that we can to enjoy the good moments, days, months and hopefully years we have with Peter before his health declines further.  Peter knows he has something called batten disease and that it caused his blindness and such.  He does not know anything about what may come and we don’t want him too.  We are asking that you do not talk to him or other children about the things to come.  As much as he can be we want him to be a normal 7 year old for as long as possible.  We are trying to do everything we can to be intentional about making the most of the good times we have together while Peter is still in good health.  We are trying to live in the present moment and not get overwhelmed or concerned about what the future may be.  

 

We know that God can and will heal him.  It may be through a miracle and God’s healing touch, it may through a miracle of a scientific break though, or it may be through the miracle of the ultimate healing received in heaven.  

 

We have shared the news with some of our circle.  This weekend we shared the news with our congregation.  And now we are sharing with our Facebook Framily.  Many of you have supported us so much during our journeys here in the US and South Africa and now in Ohio. However, we are asking that you don’t share or discuss this news with children as we would like Peter to be as normal as possible for as long as possible.  

 

As we have shared this news many have asked what can we do to help.  Right now we are doing okay.  We will likely need more support as this progresses but we also know it is hard to not be able to do anything.   So we have tried to think about an answer.  

 

• The first answer is prayer.  Pray for us that we would have patience, grace and strength for the moment in front us.  Some days are great and wonderful and filled with laughter and fun.  Other days are filled with struggles, tears, and frustration. Pray that we would be able to soak in the good days and have grace for the difficult days and times.  
• Second We are trying to be intentional to make the most of the healthy time we have with Peter.  So Peter is involved in horses, karate, and piano.  The times when he is not in school or at one his other activities you will find him playing Lego, playing soccer, doing crafts, and lately planning for his tree house.  He has big plans for a tree house and we are going to do what we can to make it happen.  So if you are local and have building materials that you are wanting to get rid please let us know.  (Picture is of the Tree House Model Joe and Peter created.) If you are not local but want to be a part send us a message and we can figure out a way for you to be involved. 
• Third, restaurant gift cards or gas gift cards.  I will be honest there are times that this is all very exhausting and figuring out dinner sometimes just seems like an overwhelming task.  These will be just a small way to lessen the load a bit sometimes and like a hug from our Framily to us.  
• Forth, Peter LOVES audiobooks, having books read to him, and hearing someone tell stories.  If you have the ability to record yourself reading a story or telling a story and sending it to us Peter would love that.  It only needs to be an audio file, because he wouldn’t be able to see the video anyway. J

There are blessings in the midst of the struggles. 

• As much as we don’t like the answer, it is a blessing to have an answer and to know what we are dealing with.  This allowed us to make a shift to focus on the moment and being intentional to focus on the present moment.  
• We know that our time with Peter is limited and so we know we need to make as many memories as we can while he is still healthy.  Shortly after we found out about Peter’s diagnosis the school shooting happened in Texas.  Those parents had no idea that there time with their children was limited. 
• There are only 6 Batten’s Centers in the world.  We live an hour and a half from one of them at Nationwide Children’s Clinic.  We have been seen by a team of doctors and specialist there and they are pleased with where Peter is at now.  They will walk with us the disease progresses and we are thankful.  
• Peter was diagnosed early. Only 6 months passed between Peters initial genetic testing and receiving his diagnosis.  Many families we have met, talked with, or read about go years misdiagnosed. Again this allows to focus on what is important.   
• We had Jacob tested and he is only carrier of the disease and will not be affected or have symptoms.  

We appreciate your love, prayers, and support as we walk this journey.  Please reach out if you have any questions.  

Play The Hand You've Been Dealt

 Bloom where you are planted. 

Minister where you are at. 

Play the hand you’ve been dealt. 

 

These are all different versions of the sentiment Joe and I have lived by in our years of ministry and even in our lives before we were together.  

 

The mantra has served us well and has gotten us through some tough times but also through some exciting times.  It has gotten us through the ordinary, the extraordinary, the good and the bad and the moments that were a little bit of both.  

 

As I mentioned before we are living the little bit of both right now.  My growing belly and our countdown to July is so exciting (and also a bit scary).  We are looking forward to welcoming “peanut” into our lives.  Peter is looking forward to being a big brother and has even committed to helping change diapers.  

 

At the same time, we are getting into better routines with Peter and his visual impartment.  We recently completed his IEP (individualized education plan) and he will be receiving Braille and Orientation and Mobility training in school and also some during the summer.   He now has a white cane, Peter named “marshmallow” that helps him see and navigate the world.  He has an aid that helps him throughout the day and is his eyes at school.  She has been a real blessing to our family and to Peter.  

 

We are getting used to being his eyes and learning to describe things in a way that is most helpful to him.  We narrate what we are seeing or what we what want him to understand and “see” about what is happening around him.  We are also discovering some of the parenting benefits of having a kiddo who can’t see; like we can have conversations with gestures or hide things in plain sight and he doesn’t even know it.  

 

I won’t lie some days it is exhausting.  Sometimes I get frustrated with myself and my lack of patience, or impatient with trying to give step by step instructions for something that would require no description a few months ago.  Sometimes my heart breaks at the fact that my sweet first born son may never know what his little brother looks like.  We try hard not to make everything about his diminishing (well at this point diminished) vision.  He is still a 6 year old boy with big plans for his birthday coming up.  He still has big plans for his future.  For the most part we have been able to figure out how to do the things he wants to do.  It may look different, it may take longer, but we don’t want eyes that don’t function to define him.  

We have an appointment with a Retina Specialist May 12^th.  While we are hopeful that there will be an answer, a known diagnosis, we are also trying to keep our expectations in line.  We fully know we could go through the tests and leave with no more answers than we came with.  Either way the sun will set and rise again.  Peter will still love to tell jokes and have dance parties.

 

While my blogs lately have been centered around Peter and Peanut.  I am enjoying being a pastor in a way I didn’t think I would.  Sure, there are overwhelming and stressful days.  I am learning to juggle roles and responsibilities, sometimes all the balls are in the air no problem and other times all the balls are bouncing on the ground instead of gliding through the air.  That would be true no matter what ministry I was part of or job I had.  

 

Someone recently asked us if we missed South Africa and we do but we are also enjoying settling into our home, lives and community here.  God is good even if life doesn’t look like what we thought it would.  God is good even though the future is uncertain and sometimes filled with question marks.  God is good when my sweet boy’s eyes are filled with smiles and the sound of his laughter is in the air.  God is good when tears fill his eyes and frustration colors his words.  God is good when my rainbow baby moves in my womb and God is good when pregnancy insomnia keeps me up at night.  God is good, period.  And God helps us to bloom where we are, God helps us play with what we are dealt, and minister where we are; and for that we are grateful.  

 

Until next time:  Remember, when you are a boy mom sometimes you have to learn to just roll with conversations about and sounds of burps and farts and other bodily functions, because if you do you may just hear the sound of his giggle.  

 

 

Where Joy and Sorrow Meet

 When you are a kid you think that adult life is so grand, or at least I did.  But now that I am squarely in the middle of adulthood I am realizing that life as an adult is a moments of joy and sorrow sometimes within the same moment.  

I was also under the misconception in my younger years that mountaintop moments and deep valley moments happened at some distance from each other.  That there were a number of steps between sorrow and joy.  I have learned in my adult years that is not true.  

 

Our family is currently walking a journey of joy and sorrow.  We are anxiously and excitedly waiting for the arrival of our baby in July.  Our journey to Heath party of four has been filled with unknowns, waiting, and sorrow.  With each passing month we grow more confident that we will be able to hold this blessing in our arms.  We have a scan at the end of the month to find out if we will be split evenly boys and girls or if the boys are going to continue to dominate and it will be 3 to 1 boys to girls.  Peter wants a brother, Joe and I want a baby.  We are making plans and dreaming dreams.  We are prayerful and hopeful about what the future holds.  

 

At the same time, our sweet, kind, resilient, fun-loving, 6 year old boy has progressively over the last 7 months lost most of his vision.  His vision has gone from needing glasses to be corrected, to his glasses being something he wears to protect his eyes but not really correct his vision.  His hands and his ears have now become his main tools and senses to see the world.  He has retinal degeneration.  His vision is now 20/350 and 20/600 and continues to worsen.  At a Low Vision Doctor appointment we were given a drawing of both his retina’s.  The area of his retina that is functioning is the size of the tip of my pinky on a 8.5 x 11 picture of a normal retina.   There seems to be no cure to what is happening and no real answers as to why and if/when things will go completely dark.  He can still see some, things just need to magnified (like times 16) and the lighting needs to be bright (read 3000 Lumens).  Somedays he can see more than others.  A few months ago he could see some of my facial features (my ears, my mouth sometimes) now most days he cannot.  

 

He will be learning Braille in school, he will be receiving mobility and orientation training.  He will likely add a white cane to his way of seeing the world.  Joe and I learning to navigate parenting Peter in a way that helps him feel secure in the midst of an ever changing situation.  We are trying to parent him in a way that Peter doesn’t see his vision loss as something that will hinder him.  While he may not get to live his dream of being a monster truck driver (a dream that was not all that likely even fully sighted); he can still be an author, a scientist, a cook, a builder, and a soccer player.  It may look different, it may take some tools that other do not use but it is possible.  It is my goal that I hear my little boy giggle and laugh each day.  Even though his eyes don’t function properly they still light up when his smile is genuine and real.  We do not want to allow Peter’s vision problems to take away from his childhood, his happiness, his joy.   

 

Even in the midst of an unknown future, diagnosis, and prognosis; we are still grateful.  Peter is otherwise healthy.  We can still hear the sound of his laugh.  He is not in pain (except when he bumps into things or people he didn’t see.) Other friends do not have that same luxury or blessing.  While his vision fading he is a growing boy with no other major health issues.  Other friends cannot make the same claim.  So while we struggle at times to know how to best navigate this new world we are in, with things like IEPs, Braille, ABLE accounts, and such, we are also thankful to hear the sound of Peters laughter, hear him playing the piano, or drumming on just about any surface.  We are living in a time where moments of joy and sorrow meet regularly.   

 

Adulthood, parenthood, ministry, and life are not always easy.  But we were not promised easy.  We were promised presence.  And we are have felt God’s presence with us this entire journey.  In the moments of joy and in the moments of sorrow; in the moments of fear and in the moments of relief; in the moments of laughter and in the moments of tears, He has been there with us.  

 

Say a prayer for us as we navigate these next few months.   Our families, our church family and the school have also been very helpful in this journey.  But there is still a lot to be figured out.  

 

Until next time – There are some benefits to your 6 year old not seeing so well.  The toy aisle at Walmart is a lot easier to get through now. J