Finding out your daughter has Down syndrome

Erick didn’t find out about her diagnosis until after she was born. 

Erick said, “Maybe five minutes in. I remember the doctor, she actually said “I don’t know but it seems like your daughter might have Down syndrome. I have a feeling from what I’m seeing.” My reaction was “okay, she can be wrong, or she can be right, but she looks healthy so that’s fine.” 

But then, when it really hit me was when I looked at my wife and I saw her face. She was freaking out, she was silent. She is really good at controlling her emotions, but yeah, I still remember her eyes when she looked at me and that really hurt. That hit me like a ton of bricks, that is when I realized yeah, we may have a problem here.”

Ongoing medical issues

Erick’s family was very supportive. They didn’t care if Erika had Down syndrome or not, the problem wasn’t her Down syndrome but her other health challenges. Erick explained, “The issue was that she was not digesting her milk. So basically, she was regurgitating constantly, and we were like “why is she doing that?” and she started losing weight and it got to the point where the doctor told us “Something is wrong.” 

He continued, “They ran tests, and they were pretty blunt, they told us “She might die.” Erika had a successful microsurgery that cleared a blockage in her duodenal passage that allowed the milk to be absorbed. She continued to have health problems as time went on. Erika developed something called Thrombocytopenia. Erick said, “there is this agent in the blood that she lacked at the time. That agent basically keeps you from bleeding through your pores. So, it seems like she had a little rash, when I reality she was basically bleeding at a microscopic level.” 

That has since cleared up, but she now has hypothyroidism. 

How their other children have been affected

Erika is Erick’s third child. Erick explains how Erika’s birth affected her older siblings. 

“Well Wendy was one year older than Erika was so Wendy didn’t understand. Wendy was born with Asperger’s. At the moment, we had no idea that she had Asperger’s. But Keira the oldest she was in love with her. I still remember she brought her this little plushie pink baby toad and it reminded me of her. When Erika was born, she had this pinkish hue to her skin, so we said, “Oh this kind of looks like you.” And we were always playing with her. But she loved her little sister and even to this day you know she takes care of her, and they have a good bond. It is a beautiful thing.” 

The joys of a Down syndrome diagnosis 

Erick said, “Everything collided in this harmonious way. A lot of things that were amiss, and situations with other family members, everything came together. She brought that type of harmony into our home and to this day she is the light of this house. She is always making us laugh, she sees that, and she is pretty intuitive. If she sees that someone is sad or something, she will approach you and do or say something just to make you smile. 

Advice for a parent with a Down syndrome diagnosis

Erick wants people to experience being with a beautiful person who is full of joy and love. 

He said, “If I were able to build a time machine I would go back and tell myself, “Brother you have won the lottery.” And I would love to tell people watching us right now that these children will bring more joy to your life than anything negative that you might be thinking in your mind. Let the fear go. Because this situation is only going to make you a better human being. It is only going to make your family come together as nothing else can. The moment that you don’t see your child even if it’s because you’re on a trip or a business trip or whatever, you miss them so much. 

He continued saying, “If you are a parent that is actually thinking that maybe you shouldn’t have this child and you are scared, which is normal, don’t be. Just let them come. They will change your life for the better. Don’t miss out on that opportunity because you will regret it if you do and as a friend I really hope that you don’t have to go through that pain, the pain of knowing that you could have been surrounded by a beautiful being that is full of joy and love and nothing will be able to basically supply that source of happiness and have that baby, take care of them.”

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My life is ruined

When Matt was 3 hours old, Wendy recalls her experience, “Yeah well so a lot of emotions, a ton of emotions.  I think every emotion known was going through.  I experienced um shock, fear, trauma, devastation, anger, what did I do?, um why me?, All of those because what I did know about Down syndrome I was afraid that my life had just been ruined.”

After a few days in the NICU Matt was able to go home.  Wendy shared what leaving the hospital was like, “The truth is by the time I left the hospital I had bonded with him..so we stayed in the hospital with him and I you know had a lot of time just he and I, when the nurses would bring him in to me I couldn’t see all of those abnormalities..all I could see was this perfect little baby.”

Proving the naysayers wrong

Wendy had one goal when she left the hospital: to prove the naysayers wrong.  She shared what goals and hopes and dreams she had for Matt.  She said, “So we walked out of the hospital doors and I had these goals, he was going to drive, he was going to work, he was going to get married, he was going to finish high school, he was going to date, he was going to do all these things.”

After 32 years Wendy shared, “He’s done things that even I, I’ve underestimated in my own son you know.  But at the same time we had to shift those goals and dress that I have for when I walked out of the hospital, we just created new goals and dreams.”

Fighting the school system

One of the hardest things Wendy had to do for Matt was fighting to get a good education.  She explained that while she wanted him to be mainstreamed she understood that Matt needed a different approach to learning.  He attended a cluster classroom.  The downside to the cluster classrooms was the inconsistency.  Each year the cluster classroom would switch locations.  

Wendy said, “So for us the cluster worked well. It was just unfortunate that it moved from school to school and so every year it was him getting to know a whole new set of other students and teachers and staff.”

The cluster classrooms weren’t the other issue Wendy and Matt faced while working with the school system,  She said, “They even went as far as trying to guilt me into backing off because my request was taking away from another child’s need.” 

It would take too long to talk about the joys

Wendy said “..there is joy in everything you know we celebrate.  I did not know this life would be a life of celebration.  We celebrated when he learned to tie his shoes, when he learned to button up his pants..there are hoys in watching him accomplish what he wants to do..you can’t even pinpoint all of the joys.”

“You’re in for a wonderful ride, you know this, I know it’s hard to believe this right now but trust me this life is going to be amazing.”

Finding a great man

For many years Wendy was a single mom.  She felt as if she would be alone forever.  She was hesitant to date anyone for fear of rejection for both her and Matt.  However, once she accidentally met John their lives changed for the better.

“John is awesome, he came into my life just when I needed him and when it became serious and I felt brave enough to introduce him to matt..I mean we’ve been together for a good 25 years nd so he and Matt are like buds..they just go hang out..i just love watching how he treats my son.”  Wendy shared.

Writing a book from life experiences

Wendy took all of her life experiences and situations and was able to write them as a book to help other parents going through what she did.  She said, “Every chapter is a story and it’s a situation he’s put me in whether it’s embarrassing or in a learning opportunity..so what I’ve done is tried to make it a book of humor because in this life we need to laugh.”

Wendy’s book is called, ‘Big People Don’t Pee in the Park: A Mother and Son’s Journey with Down syndrome’.  It was published October 3 2023 just in time for Down syndrome awareness month.  

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TRAK

Inspiration for a new program 

TRAK is short for Therapeutic Ranch for Animals and Kids.  The co-founder Jill shared her inspiration in starting the program.  She said there were a few things she saw while working as a teacher with adolescents who were in and out of the judicial system. 

The first thing she noticed was that the children she worked with always had a connection with the animals she had in her classroom.  The other thing she noticed was the low self-esteem or self-worth her students had. 

Her students needed to do community service.  Jill then had the idea to put community service together with animals to help build their self esteem

Getting the program started

Scott, the co-founder of TRAK, is Jill’s husband.  He was fortunate to live in a ranch where he learned to take care of the animals from his neighbor. Scott shared the purpose of TRAK is, to “bring families back together.” 

Get them off of their phones and interact with each other and the animals.  He also shared the unique opportunity TRAK has, is to help connect those with disabilities to their community.  When people with disabilities work alongside those who don’t have disabilities, those without disabilities are able to see that they have value and can build compassion for them.

Open program

TRAK is different from most animal therapy centers.  They offer participants to interact with the animal they connect to.  TRAK has bunnies, pigs, chickens, goats, dogs and horses. They allow participants to work at their own pace. Kristin, the mom of a TRAK participant, shared her experience.

When Jackson, Kirstins son, first started TRAK he was terrified of the dogs.  TRAK would put the dogs away and allow Jackson to be comfortable.  Now, Jackson loves the dogs and wants to interact with them and all of the animals. 

Worth the drive

Kristin lives in southern California.  Every two months she makes the eight hour journey to TRAK with her son.  Saying that the program has helped her son flourish in all aspects of his life.  The skills he is learning while taking care of the animals, he has been able to transfer those skills into skills he can use to become more independent.  Such as self grooming, language skills, and overall being more willing to learn new skills at home.

She attributes TRAK’s open program to Jackson’s success.  There is no check-list at TRAK, they accept you and love you for who you are.  This is something that Kristin says has set Jackson up for success, not failure.

Porter, a TRAK employee, talked about the work he does for TRAK. He first started there as a TRAK participant as a young child.  Now he is 19 years old and works as a horse trainer and ferrier.  He said that his job as a trainer is to get the horses to trust him.

TRAK provided the opportunity for Porter to go to a ferrier program to learn how to properly take care of the horses hooves.  

Mental health help

Chelsea, the program director, shared that as a young child, she struggled with anxiety and depression.  Her horse is what she says saved her life.  She shared what makes animals so therapeutic and helpful to those with mental health issues.  

They have a calming energy, they meet you where you are at, they can sense what you are feeling all through non-verbal communication.  Animals are emotional creatures and have the ability to connect with humans emotionally. 

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Erika and Steve first noticed something was different with their son Blaise when he was 18 months old. Erika recalled, “He went to daycare and we would go in and notice that all the kids are playing in one area and he’s over to an area by himself.  He always did individual play.”

That wasn’t the only thing she noticed.  She shared that one of the most telling signs that something was wrong was when she dropped Blaise off at daycare.  The other children would cry for their moms with intention and Blaise would just cry.  “He wouldn’t cry for me, he wouldn’t cry Mama Mama.” Erika recalled. 

Steve noticed Blaise was delayed in speech and was missing developmental milestones. He noticed  a few more things which he shared saying, “Some of the behaviors, he would get fixated on say ipad or you know one particular thing and then he would stay on it. He also made these peculiar noises like all day long.”  

After searching on google, Steven thought that Blaise had some of the same signs and symptoms of someone who has Autism.  

Getting an ASD diagnosis

Most doctors will not give an autism diagnosis at 18 months.  Erika and Steven were able to get connected with a company that helped Blaise get early intervention services as well as getting into a developmental preschool.

After Blaise attended the preschool for a little bit, Erika and Steven worked with another company to get a formal diagnosis when Blaise was 2.5 years old. 

Being labeled as ASD was the fear

Erika shared an interesting perspective about receiving her son’s diagnosis.  By the time he was formally diagnosed she shared that her and Steven had already accepted the fact Blaise was different and had autism.  Erika was afraid of what a formal diagnosis would mean for the care Blaise would receive. 

She shared, “My biggest fear, I didn’t want to get a diagnosis, even though we believed he had autism because in my mind I didn’t want them to stick him in a box.”

She continued, “Once he was labeled then that’s all the care he’s going to get. He was only going to get autism care and an autism teacher…and it’s a bigger world than that and I wanted him to have all the exposure that he could have.”

To help ensure Blaise wasn’t put in a box, Erika started working at the school Blaise was enrolled in.  She gave a great example of how she has helped keep Blaise progressing.  She shared, “Because he has autism and because he has sensory issues..they put headphones on him, because that’s what he needs.  When we have assemblies, I go in the assemblies and I take the headphones off…let’s see if he can push through it. Don’t just give it to him because he has autism.”  

Steve shared that he feels like when some parents have a diagnosis, they automatically put up a glass ceiling of what their child is capable of. Not even trying things because of the child’s label.  “We wanted to treat him as regular as possible, give him the same experiences as regular children.”

Loving your child for who they are

Regardless of his disability, Steve said that he and Erika have loved, supported, and accepted Blaise for who he is.  He said, “Don’t give up, once you get that diagnosis, it’s not a death sentence.  Just focus on the early intervention, focus on the things that you can control and then eventually things turn out ok.” 

Erika and Steve both shared their joys of having Blaise as a son, Erika shared, “Just when he meets those little milestones…he had to work four times harder to do something that comes naturally to someone else.”

Steve shared his joy saying, “I remember the first time he walked up to me with no prompts or anything and said, “Daddy I love you.” He looked me dead in the eye, and I was like “wow”.”  Being able to see Blaise work towards a goal and accomplish it has been very rewarding for both Erika and Steve. 

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Pfeiffer Syndrome: Hadley

Something Was Wrong

During her 20 week anatomy scan, Kristy was told there were some things that were abnormal with her baby.  At the time, Kristy didn’t think much about it.  She recalled, “we didn’t really think anything of it. I should have because another ultrasound tech came in and did the measurements also, but I didn’t”

After being referred to a maternal fetal specialist, Kristy realized there was something wrong.  She said, “Things just started unfolding.  They didn’t know what it was, they just knew that something was very wrong.  So that was terrifying.”   

With the help of a second specialist and some tests, they were finally given a diagnosis of Pfeiffer syndrome. After receiving a diagnosis, Kristy and her husband Andrew worried about what life would be like for their daughter.  

Pfeiffer syndrome is a genetic disorder that causes abnormalities of the skull, face and limbs.  

Unwanted Comments

While in the waiting room at a doctors office Kristy has received nasty comments such as, “DId you know she was going to be born like that?”  Andrew said, “I’ve been asked point blank in a therapy office by another parent about if we were given the option to abort.” 

He added “It’s pretty invasive, and it is a snap judgment, and you look at the value of a life.  They don’t know my story at that point.”  

Surrounded by Love and Support

Hadley now is total care, this means that she requires help performing everyday tasks both big and small.  Despite this Kristy said, “I love having a girl.  She is just so sweet, always so sweet and smiley and I feel like she knows who we are and gets excited.  She knows her brothers, she loves her dog, It’s not hard to find simple things that are just adorable about her.”

Her brothers joined in the interview and shared their perspective on Hadley.  Oliver shared, “She is five and she likes to watch TV and she likes sleeping.  She is pretty ordinary.  I like to read books with her, listen to music with her and sometimes she listens to me.  She laughs and smiles and sometimes she talks and sings.”  He later added “So at first without surgery she looks very different, but I realized that doesn’t really matter.  Everybody is different, everybody has their problems.”

Her other brother Micah said how much he likes to play peek-a-boo with Hadley and how he also sometimes gets to pick out her outfits

Hadley’s grandparents were also able to add their thoughts about Hadley.  Her grandma said, “You know they say special needs, well we all have special needs..she is easy to be around.  She is a happy little girl.”

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THAP12: The Only Two in The World

Three Month Old Started Turning Blue

Mariah has two daughters, Emma and Abby, both of whom were born with a very rare genetic mutation.  Mariah recounted, “They were diagnosed with a genetic condition that had not ever been discovered before and in fact at this point they are only two known people in the world to have their specific genetic condition. They are ultra-rare.  It feels like we won the lottery in maybe not the best way.”

When Emma was born, it wasn’t apparent right away that anything was wrong. “My pregnancy and birth with Emma was so perfect.  I have such amazing memories of that time.”  Three months later, Emma started turning blue periodically and doing weird movements. 

An ambulance ride and hospital stay later, Mariah received devastating news.  Emma was having two different kinds of seizures, focal and infantile spasms.

Focal Seizures and Infantile Spasms

These types of seizures start on one side of the brain and then move throughout the rest of the brain.  For Emma, these seizures were causing her to stop breathing. 

Infantile spasms are extremely damaging.  “The brain is so chaotic that it can’t learn and develop.  It is critical to get those under control.  We tried treatments with her, pretty serious treatments that have some scary side effects.  We initially got control, but it only lasted a week or two before she started having seizures again.” said Mariah.  Since then, they have struggled to get them under control.

Another Baby was Born with the Same Condition

After genetic testing proved nothing, doctors told Mariah, “We don’t know what is causing this.  But likely it is just some mutation that happened in Emma during pregnancy or early development, and it was probably just a fluke.” 

With the reassurance that it was a one time thing, Mariah and her husband decided to try for another baby.  Abby was born, and around three months she too started exhibiting the same symptoms as Emma. 

Mariah and her husband decided to take Abby into the hospital and start her diagnosis process.  She too was diagnosed with infantile spasms.  It was at that point, they knew there had to be a genetic component, the odds of it happening was too great to just be a coincidence.

Extensive Genetic Testing Reveals

Using Emma, Abby, Mariah and her husband’s DNA, they were able to find the specific gene that was the cause of the mutation.  Both of the girls have THAP12 mutation. 

Finding out the specific mutation, they have been able to start pursuing treatments for genetic treatment for both Emma and Abby.

Being the only known two cases has its severe limitations. There is no current research and understanding on what the extent of the effects the mutation will have.  Mariah said, “I believe that there are people out there that have it, they just don’t know it..they may be doing genetic testing and they just don’t know to look for THAP12 because it is not recognized as a disease-causing gene.”

THAP12 Symptoms

“Some of our big advocacy efforts with out girls and our foundation is to raise awareness for THAP12 so that hopefully we can find more people with this disease.” Mariah said.

THAP12 primarily presents as seizures, Emma still struggles daily with seizures.  Abby, fortunately, has been able to have her seizures more controlled.  Both of the girls have severe developmental disabilities, low muscle tone.  Both girls require total care, neither can hold their heads up, walk, they require to be fed through a g-tube.

Using Grief to Fuel a Purpose

Once Abby was born Mariah recalls, “I think Abby lit a fire under my butt.  Like, ‘Okay, we are going to have to figure this out.’..I went through the mourning process then I just decided that this is what our journey is going to look ikke, and this is what we have been handed. This is really when I really decided that I wasn;t going to sit by and live it, we were going to fight it.”

Mariah finished her interview by saying, “It has been an incredible journey and I’m so lucky that they chose me to be their mom.”

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Sister are Best Friends

Finding Out Your Sister has Down Syndrome

When Candace’s mother was pregnant with Angelita she knew something was different.  Candace recalls her mother saying, “I can’t explain it, I just knew something was a little different.” Even though she had a feeling that something was different, Candace’s family didn’t find out Angelita had Down syndrome until she was born.

Upon hearing this news, Candace said, “..my mom always said, ‘She has Down syndrome, but she is still the same and I want you to treat her exactly the same.” 

Sticking Out in a Crowd

Candace described her family as being abnormal.  Where she grew up, it was common for families who had children with disabilities to hide them.  She said, “So, when we would see someone we would be like, ‘Wow! Someone with Down syndrome.’ Because we weren’t used to it.”

When Angelita was born she had some technical dependency.  Candace said, “So that was different, going to elementary school and my mom having to drag all of her machines with her because she was on a G-tube and oxygen.”

“Forget You Had Her”

When Angelita was born she was very ill, for the first six months of her life her family didn’t get to see her.  Angelita was flown to a different hospital that could better suit her needs.  Candace said, “When she was born, the doctors told my mom, ‘Why don’t you just forget you had her?’ That really upset my mom.  She said, ‘I’ll forget I met you.’ They gave her my sister wrapped in her own IVs.”

A nurse from the hospital saw that interaction and contacted a different hospital.  Candace’s mom and Angelita flew with nothing but the clothes on their back to the hospital and stayed there for six months.

Glass Child Syndrome

Sometimes, when a family has a child with a disability, the needs of the child with the disability are so great that the parents look right through the other child’s needs to take care of the child with the disability.   

In reference to the glass child syndrome, Candace said, “..we came from such a big family it was more of a buddy system.  We didn’t have my mom being super attentive to come child because she has so many.”

Angelita is a Celebrity

Candace remembered that her friends knew Angelita was a little different.  She said, “Mainly because my mom would take us to school and when she would take Angelita out of the car, it was a whole process of taking machines and the oxygen machine on wheels.”

“So, everybody grew to love her, and she just grew into the community.  Everybody knew her, all of our neighbors, everybody at church, everybody at school.  It was a community around Angelita”  Candace said

Best Friends

Candace shared some of the things that make Angelita and her best friends.  She said, “I saw she is my best friend; she always tries to sneak away with me when I go home..We’ve been in a Flamenco class together..we hangout, I teach her the sassy comebacks.”

“I hope she comes to live with me.  I want her to come live with me..but several siblings are fighting for her.”

“She is Going to be a Chef”

Angelita hasn’t let anything stop her.  Candace said, “She is still in school. She is in culinary school..she is going to be a chef.”

Candace ultimately would love for Angelita to finish school and then come live with her as her mom is getting sick.  She wants Angelita to have opportunity and resources.  Something that Candace now does as a career.  She helps families access resources in their community.

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Southwest Autism Resource and Research Center

Denise founded two organizations to help better the lives for people with disabilities.  She was inspired by her own son Matt, who is on the autism spectrum.  Southwest Autism Resource and Research Center (SARRC) and First Place.

She shared what SARRC is, saying, “SARRC was formed with a big vision, ‘To ensure that individuals with autism and their families would be supported throughout their lifetimes, while advancing discovery and research’..We are one of the most robust sites in the country for the recruitment of subjects for the pharmaceutical trials and genetic materials.”  

Finding Housing for People with Disabilities

Using SARRC, Denise and her team focused on finding housing for people with disabilities.  She said, “..we started searching and forming, and working on strategic plans…to evaluate 100 different residential options across the country specifically focused on special populations.”

After collecting this data, they were able to establish guidelines and codes for housing options.  They created a model nonprofit company called First Place.

First Place

Using the data they collected, they were able to establish 10 specific design goals and guidelines for First Place.  “Our bold vision for First Place is to ensure that housing and community options are as bountiful for people with Matthew, and those with other differences, as they are for everyone else.”  Denise said.

Looking at the unique needs of someone with a disability, First Place provides a variety of accommodations to help people with disabilities learn and achieve independence.  Denise shared, “First and foremost, we know that families were very concerned about safety and security..people are well aware that they need to come in and check-in, and check out when they leave the property.”  

There are also 34 cameras in the public spaces to keep a watchful eye on what is happening at the residence.  

Unique Accommodations for People with Disabilities

“We’re also responsive to sensory issues.  There are no fluorescent lights in the building, they’re all low-voltage LED lights..beyond that, we’ve used sound baffles and gypcrete between the floors to create a quieter building.” said Denise.

She continued to explain that they encourage health and wellness.  They have a sports pool, a culinary teaching kitchen, fitness room, and a Zen room.  

Other unique features First Place offers are motion sensors that will shut off the stove or oven if it doesn’t sense motion for a certain period of time, different color palettes for each floor, health spot, Lego lounge, and a Cardinal’s game room. 

Denise shared that they use the culinary teaching kitchen to help people learn how to make their own meals.  They don’t offer group dining, they want to encourage the residence to learn those skills for themselves.  “..it’s almost like senior housing in reverse..we’re providing most intense support early in adult life, hoping to increase that level of independence, increase their quality of life, increase their choices for where they go next, and reduce the cost throughout their lifetime.”  shared Denise.

Challenges in Raising a Child with Autism

First Place and SARRC were both created in response to the challenges Denise and her husband felt in raising Matt.  She said, “I think the hardest thing as Matt’s mother is believing that I’m doing the very best I can, and that I’m not leaving any stone unturned during my lifetime to try and help Matt be the very best he can be.” 

She added, “..realizing that just as Matt needs a community, as parents, we need a community too of helping us get to that next space.  As much as First Place is for the people who live here, it’s also for families like ours, who want to get to that next space, and want to help their loved ones do the very best they can.”

Joys that Come with Parenting a Child with Autism

Denise goes on to explain that parenting Matt has taught her to experience a different side of parenting she didn’t know existed.  She shared, “..he keeps us grounded on a daily basis of what’s really important, and helps us not take for granted so much of the progress that he’s worked so hard to make.”

Matt has taught his parents to “live in the moment, to be joyful..he’s taught us about love, unconditional love at the deepest level.” 

Finding What is Attainable

The best advice Denise could give is, “..do what’s attainable.  What’s attainable today may look different tomorrow.  And that we can’t change the challenges in front of us all at once.  And we’re so much stronger when we work together and not go at this alone.”

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Surprise

When Katherine was 12 years old she was shocked to learn that she has a sister! Her parents were encouraged to put her sister Margaret in an institution. Katherine stated, “the specialist as soon as he saw my sister said to my mom, ‘your child is severely, profoundly retarted and she will never be able to live a normal life and she should be institutionalized.’..and my mom was just crushed.”

When asked what her initial reaction was to finding out she had a sister, Katherine said, “I always wanted a sister…why didn’t they tell us about her. I didn’t understand. I found it really hard to accept what they said about her..and I guess I really wanted to meet her and find out what was going on with her. But I didn’t actually meet her until I was in my 20’s.

Meeting Margaret

When Katherine first met Margaret she described the experience as “overwhelming”. Her sister was in a very large institution. She recalled, “When I saw my sister, she was beautiful. She looked like my mom and my dad. She had my mom’s eye which none of us got. I could see right away that I would have known anywhere that she was my sister.”

“I felt this connection wither her as soon as I met her..I knew that we belonged together in some way..her spirit just spoke to my spirit in some sort of way.”

Becoming a guardian

Upon learning that the institution Margaret had lived in for 35 years was closing, Katherine decided to become her guardian and help find an alternative living place for her. Margaret was placed in another institution closer to where Katherine lived. Margaret lived there for several more years and finally moved into a group home when she was 65. She lived in an institution for 63 years.

“When I saw the way she was living, I thought this can’t go on indefinitely. I felt like I had entered an alternate universe. I thought ‘oh my goodness. I had driven by places like this and I had no idea what was going on here. How people were living or what their life was like.’ and I’ve felt that ever since.”

Advocacy

Because of her interactions with Margaret, Katherine became a strong advocate for people with disabilities. Particular, those living in institutions. Katherine was the chair for the Human Rights Committee. She said “I loved that and I wanted to try to change things for people.” She worked for the state of Illinois for 11 years doing advocacy work.

“They had given up on her”

Katherine and Margaret’s parents were still alive when Margaret was moved out of an institution. Katherine was asked how they felt about that; this was her response. “They were uncomfortable with that at first. I think a lot of it had to do with the fact that they had given up on her. It was hard for them..my mom particularly because she felt like she had given away her daughter.”

Even when Margaret was placed into a group home, her parents never visited her. A mentality that many parents of that generation still have. Despite that, her brothers have become more involved in her life. “My older brother has actually come and visited and we have had some holidays together now, which we never had growing up.”

Being a sibling

“From my perspective whatever the disabilities are and there are some difficulties of being a sibling to a disabled sibling. I won’t sugar coat it. There are times when you feel very responsible and you will feel like other people don’t understand what you’re experiencing.”

“But I think the joy and love of having a sibling like my sister, she loves me unconditionally. That’s something that very few people do. She is just a joy in my life.”

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Multiple Diagnoses Lead to Love and Acceptance

Daughter born with catastrophic seizure disorder

Elie was 3 months old when Christie and Eric noticed she was making some odd movements. They mentioned their concerns to their pediatrician who told them that, at 6 months if she was still wasn’t achieving age appropriate development, he would send them to a neurologist.

When Elie was 5 months old, Eric and Christie decided they couldn’t wait any longer to see a neurologist. As soon as the neurologist saw Elie, he knew she had a serious condition and soon after diagnosed Elie with infantile spasms, which is considered a medically catastrophic seizure disorder.

“It was heartbreaking,” Eric said. “I remember thinking that I didn’t know what to think. I didn’t know what to expect. It was a whole road that we couldn’t see in front of us.”

Christie felt a little more comfortable with the diagnosis and the medical issues involved, she has a cousin with a developmental disability and she once wanted to be a nurse. Christie had wanted a daughter for a very long time, and because of the disability she went right into the momma bear mode. “Okay, what do we need to know? What’s next on the road?”

A different kind of seizure disorder

Infantile Spasms is an unusual seizure disorder because the child will stop having the specific related seizures at a young age but if it’s not controlled it moves into another seizure type. It turns out that Elie was having about 200 seizures a day and she qualified for a study being done by UCLA and was immediately enrolled in the study. Christie said it was great to have the level of care and oversight offered by the doctors doing the study.

Christie also started doing research on her own and found that vitamin B6 could help control seizures and when the other treatments didn’t work the doctors finally agreed to try the vitamin B6 treatment. “Within three days her seizures were gone,” Christie said. “Unfortunately, they went on for too long,” and a serious developmental disability resulted.

Day-to-day routine with someone who has an unusual seizure disorder

“The first two or three years was, I think a very similar experience to other parents,” said Eric. Elie was nonverbal but she toddled after other children her age and she had fun playing. “But the older she became the more distant she became from her peers,” said Eric. They had great support from friends and family, but as they interacted with friends it was also a reminder of the differences in Elie from other children her age. “It was very challenging, we had lots of therapies, we got her right into occupational therapy and speech therapy,” Eric said. ” Lots of medical appointments, metabolic studies, we were doing stuff at UCLA and USC Children’s Hospital all the time, it seemed like.” Their days were full of the logistics and caring for Elie.

Becoming an advocate for their daughter

“I always felt like I had to be Elie’s voice,” she said. Christie became an expert on Infantile Spasms by doing a lot of research. They were living in California at the time and qualified for speech, occupational and physical therapy twice a week. Elie was three when she had her first IEP (Individual Educational Plan). “I think for me the most difficult thing has been all of the advocacy. The difficulties with state agencies with various people and committees,” Eric said. “We’d have to work with and sometimes against (these committees) unfortunately to get Elie’s needs met.”

Autism diagnosis improved communication

As she got older Elie was diagnosed with autism. Christie said, “it was actually a very helpful diagnosis because it helped us to understand her communication.” They learned to communicate with her through pictures.

Developed Self-Injury at an Early Age

Elie developed severe self-injury behaviors when she was about 9 years old. She would cycle in and out of the behavior but at age 11 she cycled in and never came out of it. This led to admission to the Kennedy Krieger Institute’s inpatient neuro behavioral unit on two different admissions, the first time for 5 months and the second time for 7 months. “It’s a unit that focuses mainly on children who have autism who have what they call severe problem behaviors,” Christie said.

“It’s certainly horrible to see your child self-injure,” Christie said. “There is something uniquely devastating…about seeing you child self-injure and seeing that she doesn’t want to do it but she can’t help herself and she needs help.”

Eric said, “We’ve gone through the whole grief process with just the initial diagnosis and coming to terms with a child who is going to have an intellectual disability and she’ll be nonverbal, and we moved through that, and it was okay. But then the self-injury came a long and it was a whole new thing, almost a double whammy.” The self-injury came on gradually and it cycled in and out. “We would think this is horrible, but it seems to have cleared up.”

11-year-old placed in a group home because of self-injury

When Elie was 11 years old, she cycled into a very serious self-injury behavior cycle. “She needed somebody with her at her side during all 18 hours (a day) to prevent her from hurting herself too much,” said Christie. “We didn’t have a choice but to place her in a group home because otherwise she was at risk. So, in some ways that made it easier. This was a clear that was in her best interest.” It was a hard decision to have their 11 year-old daughter move out of their home but that it was what was best for her.

Elie’s impact on her brother and cousins

Christie and Eric have a son who is 5 years younger than Elie. “I’ve been very cautious from the beginning from not wanting him to feel like he’s responsible for taking care of her,” Christie said.

Eric and Christie attended classes to be aware of the psychological effects of having a sibling that has demanding needs. “He has been very impacted by it and we’ve done our best to let him have a normal life,” said Christie. “It’s difficult, but at the same time, he has great care and concern for people with disabilities in the community, and he has learned a lot.”

When Elie was younger extended family was able to be involved more in helping with her care. After she developed the self-injury behavior it became a lot more difficult for family members to help. “We’d get a lot of sympathy and a lot of help in other ways, but that didn’t turn into them being intimately involved in her life,” said Eric.

Christie added, ” I think anytime there are particularly challenging behaviors with the self-injury, it’s scary. It’s scary to see it, and you don’t feel equipped. It can be very scary and just too much. So, we don’t expect family to get in there and to take care of her.”

With serious challenges come great joys

“She is delightful and loves to laugh and be active,” said Christie. “Elie is pure happiness.” Elie wants to be happy and getting her services in place allows her to be her happy self. “There is no purer joy that what Elie is happy,” said Christie. “That is just an amazing, healing blessing that you just don’t get from other experiences. There’s just something about it.”

“I would say, Elie is Elie. There is not artifice, no manipulation. When she is happy, it is 100%. If somebody is able to experience her and be on her level, it is amazingly rewarding and heart filling,” Eric said. Most of the care givers Elie has had over the years still keep in touch with her and want to see current pictures of her.

Advice to parents facing serious developmental disabilities

“It’s easily isolating, or easy to be isolated. You get so involved and wrapped up in their care and it just feels like nobody else can do this” Eric said. “Try to break out of that and realize that there are people who want to help. Let them.”

“Thankfully, with the internet you can find what you need with parents. It’s easy to let yourself be isolated because it’s just all consuming to take care of your child. but one step in front of the other, don’t take on too much at a time. Reach out to parents.” Christie said. She advises trying everything possible and reaching out to professionals.

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