888-533-4443 Info@FamiliesforHoPE.org 1219 N. Wittfield Street, Indianapolis, IN 46229

My Amazing life, at least it is to me!

By Heather Rinard

The blades of the grass softly whispered their song in my ear, as I laid sprawled out on the checkered cloth, enjoying our teddy bear picnic. Momma made our childhood magical. From tea parties in the garden, family night games of drawing in the dark and Red hots in our hot cocoa while we stared through the skylights waiting to see a glimpse of Santa’s slay.

Daddy read every book series out there in the 80’s to my baby sister and I. You see Little House on the Prairie was my favorite. My momma fixed My sis’ hair like Laura Ingalls and I always looked liked Nellie Olson. I guess that could be why it was recommended that I revisit kindergarten for the second time. To learn better social skills. Apparently I thought I was the teacher.

That same year my older sister Christie was married in March. I was dripping in cream lace and peach flowers. It snowed that morning.

Now there is only 3 of us siblings at home. By the time I was 10 my brother moved on and I became the oldest.

I debated my way through jr high. Danced on the hearts of many in drill team and in my senior year was captain of the cheerleadering squad.

The van was bulging at the seems. My Nellie belle, a 71 VW bug, was in tow behind. Off we went to Southern California from suburbia, conservative Idaho. Nothing could have prepared me for that eye opening experience into the world. I graduated co-valedictorian with a degree in Interior design.

I tempered with fate, falling for business in front and party in the back, criminal boy.

4 months later pregnant and married. Then 4 years later contemplating suicide and drowning in depression. I tidied up and threw away the debris. My little boy, Gavin and I had a vibrant new beginning.

My heart flutters, swooning over the freckled faced red head. Was it Love at first sight? Matt and I met on June 9th, a month later at minor league baseball game I was wrangled into playing a game on the field. Guess what’s in the box! The last box was a ring, Matt was on bended knee in front of a crowd of thousands professing his never ending love to me. A month later we were married in a funeral home. We drove away hearing the clanging of tin cans behind the hearse.

Shortly after Samis 2nd birthday the Economy tanked and we moved half way across the states to Texas. The next to come was my Izzy bug. Now there’s 3. We were happy and fulfilled. Life was planned out, little did I know that God had other plans. After a failed vasectomy, we were expecting our 4th child.

I stood there knowing that was the last time I would see my daddy. His raspy voice said I love you and drive safely. 26 hours later we pulled into the driveway. At 11pm the call came in, daddy was no longer in pain. We honored daddy by naming our 4th child after him, Charliedawn.

Early Wednesday morning my husband and I were crammed on a small bench in the NICU. The sun filtered in warming the ice cold room.

The room became a blur, my head was spinning and the tears stung my cheeks. Words were spewing out of their mouths like lava hitting the ocean; vegetable, no quality of life, will NEVER know who you are and won’t live past 6 months. Our world fell apart.

The phone rang, on the other end was the PICU Hospitalist. My breathing quickened, my heart sank and the words “nothing more we can do” echoed in my ears. However by the end of the day Charliedawn starred death in the face and screamed I’m not done yet! It’s my birthday and I made it to 1.

Shortly after Charliedawns trach surgery, the 3 kids and I crammed into the mini van and ventured out to the next chapter in our lives.

Cactus and rocks as far as you could see was our landscape of our future.

Maybe the journey isn’t so much about becoming anything. Maybe it’s about unbecoming everything that isn’t really you, so you can be who you were meant to be in the first place.

 

HoPE Walk ‘N’ Roll

First Annual HoPE Walk ‘N’ Roll festival

Families for HoPE, Inc. is a 501(c)(3) nonprofit organization formed to address the needs of families and children diagnosed with holoprosencephaly (HPE) and related brain malformations.

Deeply committed to raising awareness of holoprosencephaly, a group of HPE families in Arizona are joining together to host an awareness event and fundraising walk on November 9th 2019. The event will be held at Power Ranch Park 4546 E Haven Crest Dr Gilbert, AZ 85297

Grandparents View

Written by Pete Lawler

While I’m preparing to complete the 2020 conference registration for Dorothy and I, we were talking about last year’s event. 2018 was my second conference. The first was in 2008 when Chloe was a baby, and I learned so much about HPE and about my granddaughter.

Like a lot of families, when we got her diagnosis, even though the doctor told us not to go home and google it, we did. It was scary seeing “the worst”.  Then we went to the conference and learned that it isn’t all gloom and doom. I met a young lady that at, I believe, 6 years old told her doctor her name and said, “I have Holoprosencephaly”. I was just learning how to say it and still look it up to spell it.

Many of our children cannot speak, like our granddaughter, Chloe, but that doesn’t mean they cannot express themselves.

In 2018 Dorothy and I had the opportunity to attend the conference again. This time it was at Great Wolf Lodge in Mason, Ohio as it will be in 2020.  The chance to see families I met in 2008 and to meet new families was too much to miss out on so we loaded up and headed north. I’m sure some of the families got tired of me and my camera.  I took hundreds of pictures during the conference. Some of the kids became favorite subjects of mine and if you see the pictures you know why. I think it is the eyes.

This little doll was one of my favorite picture subjects.  I probably have more pictures of her than even my own granddaughter.

Getting the chance to watch these families (mostly the kids) interact was worth more than any registration fee. I got to meet some great people from as far away as Holland. Miss Kate and her family became friends who we still stay in touch with. Unfortunately, Kate and the crew will not be able to attend the 2020 conference, but we look forward to seeing them again in 2022. Last year’s conference gave us the chance again to learn more about these amazing kids (I guess I should say people as some are adults now).  The speakers that come are some of the most knowledgeable in the field and give families hope instead of just telling parents how short their life will be.

As I look back through these pictures again, I see children interacting with their siblings and other kids.  I see wonderful smiles on faces that can light up a room and make you smile on your worst day. Our children are full of life and have purpose.

At the 2018 conference I also attended as a vendor.  I make vinyl decals and through my decal booth, I met even more of the families and learned some of their stories. While designing decals to fit a specific family, we would talk, and I got the chance to learn about them and their child.  I wouldn’t give up that opportunity for anything.

On top of the invited speakers, they had an evening just for them to go, relax and get to know each other more. The guys, well we had an evening to go and see one of the best collections of classic cars I have ever seen and to bond and get to know each other better as well.

The facility has a great pool area where the families got the chance to go and spend time relaxing and be with old and new friends. It’s also right next door to Kings Island Theme Park. Some of the families and a lot of the older kids made a day of it on the rides there.

Overall, the conferences are great experiences for families. There is no better way to learn about Holoprosencephaly than to be in a building with a group of families who are going through the same thing as you.  I am so looking forward to attending in 2020. While I’m thinking about it, I want to say thank you to everyone who had a part in all the past conferences and for those who are working so hard already for the 2020 event.

For those who didn’t attend in 2018, this picture will give you an idea of how many were in the last conference. Hope to see everyone in April.

Exhausted

For the exhausted mom who hides a few minutes to cry in the bathroom…

For the mom hidden in the bathroom, because she needs a few minutes of tranquility while slipping tears from her eyes.

Rare Disease Day

What is holoprosencephaly?

Holoprosencephaly is an abnormality of brain development in which the brain doesn’t properly divide into the right and left hemispheres. The condition can also affect development of the head and face. In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include intellectual disabilities and pituitary gland problems. Holoprosencephaly can be caused by mutations in any of at least 14 different genes; chromosome abnormalities; or agents that can cause birth defects. It may also be a feature of several unique genetic syndromes. In many cases, the exact cause is unknown. Life expectancy for people with this condition varies, and treatment depends on the symptoms and severity in each person. (https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly/cases/27877)

Subdivisions of Holoprosencephaly

*Alobar, in which the brain has not divided at all, is usually associated with severe facial deformities. 

*Semilobar, in which the brain’s hemispheres have somewhat divided, causes an intermediate form of the disorder. 

*Lobar, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly the baby’s brain may be nearly normal.

Causes

Holoprosencephaly is a birth defect that arises during the first few weeks of the pregnancy. Diabetes in the mother during the pregnancy can increase the risk of holoprosencephaly in the fetus. However, for most children, no known intrauterine exposure is identified that is causally related to holoprosencephaly in that child.

Some children will have an identifiable genetic cause of holoprosencephaly. Approximately one-third of children born with holoprosencephaly have an abnormality of the chromosomes, which contain the genetic material (DNA). The most common chromosomal abnormality associated with HPE is when there are 3 copies of chromosome 13 (trisomy 13), although a number of other chromosomal changes can also cause holoprosencephaly.

In other children, holoprosencephaly is due to a change in a specific gene. These changes cause the genes and their proteins to function abnormally, and this affects the development of the brain, resulting in holoprosencephaly. Some of these genes are SHH, SIX3, TGIF1, ZIC2, PTCH1, FOXH1, NODAL, CDON, FGF8, and GLI2. Holoprosencephaly can also occur in certain genetic syndromes in which there are other medical issues besides those mentioned in this report that affect organs in addition to the brain and face (e.g., Smith-Lemli-Opitz syndrome).

Despite the above understanding of the causes of holoprosencephaly, the exact cause of the condition is not identified for many individuals. There are likely to be additional genetic causes other than those already known and mentioned above. (https://rarediseases.org/rare-diseases/holoprosencephaly/)