Inspiring life despite a diagnosis

Daniel and his wife spent 11.5 years of their life devoted to taking care of their son Lucas.  Lucas had a very rare condition called Menkes disease.  Despite being total care, Lucas brought love, joy and happiness to their family. 

Menkes syndrome: Daniel’s Story

What is Menkes disease?

Menkes disease is a disorder that affects copper levels in the body. Menkes disease is characterized by sparse, kinky hair which is known to break easily, failure to thrive, seizures and deterioration of the nervous system.  People who have Menkes disease have a life expectancy of three to ten years. 

Finding out your son has Menkes disease

Daniel shared his experience about learning his son had Menkes disease. After Lucas missed milestones around nine months old, they sought help.  They were told to see a geneticist who thought because of Lucas’ unique hair texture that he had a copper related disorder.  

After meeting with him Daniel said, “I went home and Googled copper related syndromes and there are two. Wilson’s disease is when you have too much copper, but you can live a long life and manage it. There are three or four medications for it now, so I was rooting for Wilson’s disease. The other is Menkes disease where you have not enough copper and you live a very short life and it is full of challenges; like he probably won’t walk, talk, or sit unassisted and those were all true for Lucas. Seizures are indicated, we didn’t see very many with Lucas. So, sure enough within a few months the diagnosis came back and that is a blessing in a way that the diagnostic odyssey was short, but it’s bad news. 

Dealing with a terminal diagnosis

They were told Lucas’ life expectancy was between three to ten years.  Upon hearing about his diagnosis Daniel talked about his experience.  He said, “It changed everything you know, and he was one years old when we got the diagnosis, and everything changed. We thought for a while that there would be no happiness or joy or none of the normal expectations of what you thought your life with your child would be, everything seemed to get derailed.”

When asked if they grieved after finding out Lucas’ diagnosis, Daniel said, “And then there is the grief of all these little things. The realization that he won’t play sports, you grieve that a little bit, or they say he will never talk.”

He continued saying, “I’m still going through the grieving process….And since then, I’ve come to find out all these subcategories of grief that we were going through. There is anticipatory grief because you know that he will die before us, the prognosis was three-ten years and in our case, he lived 11 and a half years.”

Taking care of someone with Menkes disease

Daniel shared the daily schedule of caring for Lucas.  Lucas would wake up at seven AM.  He would have his daily meds that were timed with each meal, had a catheter every three hours, diaper changed,  and be fed through his G-tube.  There were small pockets of time throughout the day where he didn’t require active care.  

Lucas was lucky, he had a loving nurse who helped take care of him for eight years.  She would take care of Lucas when he came home from school until he went to bed at seven PM.  Daniel described having the nurse as a huge help.  He said, “..it was a burden off us”

Impact of having a child with Menkes disease

Lucas had a younger brother, Daniel described how Lucas impacted his life.  He said, “Now for his younger brother he never knew anything other than life with Lucas who had a different path and special needs and high complex medical care. I think it made him very compassionate, caring and very concerned.”

For Daniel and his wife, Lucas taught them to slow down and accept things for the way they are. “It’s an odd thing to say, and then for my wife and I too, I think we had to slow down, we had to calm down, we had to accept things that weren’t the way we wanted them to be. It really became a lot of those aphorisms you hear all the time. Like “No one is guaranteed tomorrow”, or ‘Live for the moment, or ‘Don’t sweat the small stuff’. We felt an extra permission to live that way and tried to.”

Brittney and Derik share what SHINE syndrome is and how it has made an impact in their life.  Their daughter has been a joy in their life despite some of the difficulties that come when having a child with SHINE syndrome.

SHINE syndrome: Brittney and Derik’s Story

What is SHINE syndrome?

SHINE syndrome stands for sleep disturbances, hypotonia, intellectual disabilities, neurological delays, and epilepsy. There are only 150 known cases world wide, making the disability extremely rare.  

Brittney, a parent of a child diagnosed with SHINE, said, “We think that there are a lot more that are under-diagnosed with either autism or epilepsy.  A lot of children with SHINE do have either one or both.”

Early signs of SHINE

The first thing Brittney and Derik noticed was that their daughter was diagnosed with torticollis.  “Her head was basically stuck in one direction; she would constantly look that way…that cleared up with physical therapy and then she was still developmentally delayed at that point,”  Brittney recalled. 

She continued saying that she wasn’t interested in toys, and she wasn’t rolling over. This was atypical for infants.  When compared to her two neurotypical boys, Brittney and Derik knew something was wrong.

SHINE syndrome is a spectrum disorder

After being diagnosed when their daughter was two years old, Brittney joined a SHINE Facebook group for parents.  She learned that each child’s disorder was unique because of the wide range of abilities and assistance needed.

“Some of them don’t walk, some of them don’t talk and then some of them did and then they regressed..A lot of kids will have a seizure for instance and lose progress in their development.”  Brittney said.  

Some children are total care, which means every aspect of the child’s life requires assistance, and others are independent.  There is one known case of a father with SHINE syndrome who has a child with SHINE as well.  

Getting SHINE diagnosed

After doing a genetic test on their daughter, Derik and Brittney were glad they found answers.  Derik said, “We definitely wanted to know what was going on with her..so, it was kind of comforting to know what the diagnosis was and what was going to be happening and just be able to help her treat that was a good thing too.  And knowing what we were going to be able to have an answer going forward to be able to address what was going on.” 

Brittney shared, “We have this answer of a reason why she is having all these difficulties and it brings us all hope that hopefully one day be able to support each other in the SHINE community and hopefully be able to help more families be able to know.”

 The joys of SHINE syndrome

“I think just the light that she brings, she is really joyful, she just makes you happy to see her smile.  She gives people hugs, she just runs up to strangers and gives people hugs and says hi to them. She really is just joyful to be around, so I really enjoy her presence. Just being around her lights up everything in the world and the people around her.”  Derik shared.

Advice for parents of children with SHINE syndrome

Brittney’s advice to parents is to do your research and be prepared to educate your doctors.  Most doctors are unfamiliar with SHINE syndrome because of how rare it is.  

Brittney said, “ A lot of the doctors that I see are like, ‘what is it?’ or I tell them now, look it up ahead of time, this is what my daughter has so that they are pre alerted so they know and they can research a little bit, because there are some articles and some research that has been done.  It’s minimal but there is a little bit.  

She also advised to be involved in the SHINE community.  They have a great support system through the community.   They have meetings once a month where they can meet and pick each other’s brains about issues or concerns they are having.  This has become a great source of information for Brittney and Derik.  

Brittney shared, “I’ve learned more I think about SHINE during those informal meetings from other parents’ questions and there are some more experienced parents with the SHINE syndrome that will answer and give us some advice on how to navigate different things.”

When Wendy first found out that she had a son with Down syndrome she was devastated.  She felt as if her life was over and didn’t know what life would look like for their future.  32 years later she now realizes how great her life is with her son Matt in it.

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.  

During a routine ultrasound, Madison and Ty found there was something was wrong with their baby boy. When they went to the specialist, they were told their baby’s bladder was large, and his kidneys were covered in cysts and had little to no function- a condition that is incompatible with life.

Devastated, Madison thought about the possibility of carrying their son as long as she could, so they could donate his organs. They learned to qualify for organ donation, he had to be carried to 36 weeks’ gestation, and weigh at least 6 pounds- this became their goal.

After delivery, their son, who they named Cameron, was placed on Madison’s chest and she said it was “the most magical, best feeling in the whole world.” Doctors confirmed there was nothing they could do to intervene. Madison and Ty said they were confident Cameron didn’t feel any pain, and it was the best decision for them.

Ty said that when he got to hold Cameron that “it was perfect, the world was perfect, everything was right.” Cameron lived for two hours and 43 minutes and Ty says, “for two hours and 43 minutes the world was perfect.”

When asked how that experience changed their lives, Madison said “it puts everything into perspective, our lives are so short. I want to be so positive; I want everybody that knows me to feel my love for my son.” Ty said that it had helped him to appreciate time and people more. He said, “I felt a new kind of love that I didn’t know existed, and that was special, it was so special.” Ty said advice he would give is that “your wife probably knows best. She has the closest connection, and she knows things that you don’t know or can’t experience, and you should trust her. I chose that whatever my wife would like to do, is what we are doing do. And that was the greatest decision that I’ve ever made. He said you get to experience good things out of it. Do your research, listen to your doctors they have a valued opinion, they are looking out for you as their patient, but this is your life.” Madison says the best advice she can give is to just acknowledge that it’s the worst thing in the world. For somebody in that situation, I would say I’m always here. I know it’s terrible but I’m always here.

Ty and Madison love to talk about Cameron. They want to take every opportunity to talk about him. Ty says “everyone apologizes and says, “oh I’m so sorry I didn’t know you lost your son.” Which he replies “don’t apologize, let me tell you about him.”

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. 

Kristy and Andrew shared their journey with their daughter Hadley, who has Pfeiffer syndrome.  They found out in utero something was wrong and were candid about their worries and stress.  When Hadley was born all of that changed. 

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.”

Having the only two known cases of a genetic mutation called THAP12, Mariah has used her daughter’s condition for good.  She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.

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.”

Agenesis of the Corpus Callosum, Goldenhar Syndrome

Knowing Something is Wrong

During a routine ultrasound Regan was told that her son, Matthew, had some abnormalities with his brain.  Regan shared, “Actually the doctor didn’t know a whole lot.  He just said there was a problem with the sonogram, he had to Google it.  He didn’t really give us a lot to go on.  But he told me what it was.”

His diagnosis was agenesis of the corpus callosum.  The corpus callosum in a piece of the brain that connects the two hemispheres.  Agenesis means a lack or absence.  Matthew was going to be born without his corpus callosum. 

Agenesis of the Corpus Callosum

The exact nature of Matthews diagnosis was undetermined.  People with agenesis of corpus callosum or ACC, vary in how they are affected.  “The pediatrician said that a lot of people have this, and they never know, and they may live perfectly normal lives while other kids have very extreme cases. The biggest symptom that Matthew has is low muscle tone.”  Reagan said.

Surprises in the Delivery Room

“Where is the pediatrician?  This baby has issues.” These are the first words Regan heard as Matthew was being born via c-section.  It was clear that something else besides ACC was going on.  Matthew was born with facial abnormalities and was missing an ear.

The Only Person in the World

Matthew was diagnosed with Goldenhar syndrome and when his family did genetic testing, they discovered he has a random extra chromosome.  ACC is very rare, Goldenhar syndrome is also very rare, and his extra chromosome, Matthew, is the only person in the world who has it.

Regan said, “What is interesting though is his extra chromosome, they looked through the bank of all the chromosomal disorders and there is not a match.  He is the only one that we know of.”

The Challenges of Raising a Child with a Disability

“He is delayed, so just understanding that he may meet milestones that other kids..but just ltr and some things he may never meet.  Just understanding all of his physical and mental needs is a challenge.” Regan said.

Matthew is fed through a G-tube, has a cecostomy to flush his bowels. One of the other issues they struggle with is speech.  Matthew uses a communication board to express what he wants or needs. 

There are a few people who know how to care for Matthew.  Regan said, “Not really knowing how to deal with his needs, I think that puts a little more pressure on us as his parents.  You don’t get a day off, because you don’t really have people that you can have your kids spend time with.”

Letting Them Know They are Loved

“One thing I always made a point of is that he always knows that he is loved.  Because I didn’t know what to do everyday to help him and I just wanted to make sure that he was loved.  The other thing I found out over the last 12 years is that there are other moms like me.”  Regan said.

She continues saying, “Even though our kids have different conditions and different challenges, there are a lot of us out there that support each other.  Social media has made the world smaller.  It is easy to find people that you can connect with, find people that you know and get a support system.”

“I never would have planned to have a special needs child.  I never would have volunteered to be in this position, but this has changed my purpose in life.  I have a bigger desire to help other people.  It is interesting how things that God puts into your life really causes you to look at everything differently.  It makes everything more special.”  Regan said as she closed the interview.

Dani and her family fought hard to receive an official diagnosis for her daughter Hayden.  After many specialists they finally received a diagnosis of DDX3X.  So rare that there that at that time there were less than 500 people that have ever been diagnosed with this genetic deletion. 

Dani: DDX3X

Family comes together to receive diagnosis

Dani is no stranger to working with children who are delayed.  She is an occupational therapist and worked with children in the early intervention program.  This allowed Dani to be aware and notice when things with Hayden weren’t quite right. 

She said, “At about three months I realized she started doing things that were reflective, not even functional.  Then she would just stop doing it and she was unable to sit up.”

Like Dani, her family has been involved in helping people with disabilities for decades. Her parents and brother were able to help observe Hayden and noticed when things seemed a little off. 

Journey to receiving a diagnosis

Knowing Hayden was delayed, Dani set off to find answers.  Hayden was evaluated and was found to be delayed with no known reason or cause.  This caused Dani to dig even further and fight for answers. 

She shared, “We had to go through tons and tons of hoops…what we had to do was go through three different genetic tests to find what her diagnosis was… I was not going to settle for an autistc diagnosis because I knew she was not autistic.  There was something more going on.”

For Dani, not knowing her daughter’s official diagnosis was the worst part.  She said, “For me, that was worse than getting the actual diagnosis…we really fought to get a diagnosis and it was so frustrating to find the right answers…it was very bitter-sweet.  For me, I felt validated as a mother.  I knew it, I knew something was wrong and it wasn’t autism.”

What is DDX3X?

DDX3X is a genetic deletion disorder that affects each individual differently.  Some of the common symptoms associated with DDX3X are: intellectual disability, developmental delays, low muscle tone, difficulty with speech, seizures, movement disorders, abnormality of the brain, microcephaly. 

Some individuals with DDX3X can learn to speak, run or jump while others are non-vercal and cannot walk. 

Hayden is non-verbal, something that Dani says is a really difficult challenge for them.  As Hayden has gotten older she has learned to make different sounds to indicate if she is happy or doesn’t like something.

Unexpected diagnosis turns grief into joy

Dani shared what it was like to grieve the life she thought Hayden would have, saying, “It’s like you go on this trip and you are looking forward to going to Italy your whole life…and you end up in Holland.  It’s not Italy, but Holland has tulips and they have beautiful weather…to grieve even some of those things like marriage, prom, taking…you have to grieve some of those things..and that is a process.  But once you get through it, you’re really able to enjoy Holland and you don’t want to leave.”

Despite her family working in the field of helping people with disabilities, it was a different ballgame receiving a diagnosis for their niece and granddaughter than they had been used to.  Jay, Haydens uncle said, “It actually gave me a great deal more empathy for the parents and people that we work with.”

How to be okay with your new normal

Dani simply says, “Embrace, Embrace every single feeling,  Embrace when you’re upset because it is okay to be upset,  Embrace the help that you are offered and just love.  Love and remember that is all for a purpose…I learn more from Hayden every day than I learned my entire life.”

Carrie was only 22 years old when she received the unexpected news that her son, Luke, was born with several disabilities. She lived far away from family, and single was single.  

Carrie

Finding out your child is different

Reflecting back, Carrie said, “So even from the beginning I honestly just thought ‘This is what I have.’  I didn’t know any different as a parent.”  As a first time mom, Carrie didn’t have anyone to compare Luke to.  She said, “I think in a way that was a blessing.”

Luke has several diagnoses.  His main diagnosis is SCN1A gene mutation which is the underlying cause of all of his diagnoses.  He also has been diagnosed with Gervais syndrome, a life-long severe form of epilepsy, cerebral palsy and autism.

“I do remember the day we got that first diagnosis of autism.  I was alone at the appointment; i was living in Atlanta with no family..there is a mark in your life where nothing will ever be the same..I pulled my car over and I remember processing that and thinking, ‘This is forever now.’”  Carrie shared.

Having a supportive family despite the distance

Even though Carrie lived several states away from her family, they took it upon themselves to be as supportive as possible.  Carrie shared, “My mom went to almost every one of my son’s appointments for 20 years now.  For any procedure we had done, she is always there.”

She continued saying, “They have never made it awkward.  I feel like they have done a good job of privately educating themselves, being comfortable, caring for him and being able to help.”  

Marrying when you have a child with a disability

When Luke was eight years old, Carrie started dating a man named Kevin.  Kevin and Luke hit it off immediately.  Carrie shared, “Their bond is just unbelievable, the level of love and trust between them.  I often feel like the outlier because he (Kevin) is the favorite and I love that.”

Carrie knows how lucky she was to find Kevin.  She said, “To have a man come into someone’s life with a child with severe disabilities and to make a choice to adopt him and to accept that and not only to accept that but fully embrace it and love his role as his father. I do know how rare that is.”

Being honest with where you are at

Carrie shared that she was fortunate enough to have several mentors in her life that gave her great pieces of advice.  She recalled their advice by saying, “..let yourself have the grief and let yourself have the breakdowns.. I think it is important to be real about the emotions that come with this and to let yourself feel them.”

She added, “At the same time though, let yourself be open to the happy times as well..reduce your expectations, and just roll with it.  You can’t really plan for a life.  You just never know, developmentally what it is going to look like next year, what your support system is going to look like next year. You just need to have love, and faith and just go for it.”