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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Collaborative Corner for Exceptional Children  

Hormone Growth Deficiency 

Both Jessica and Johnathan’s children have hormone growth deficiency or (GHD).  GHD affects the pituitary gland, the gland that is responsible for the production of various growth hormones.  “Trent’s pituitary gland works at a rate of 30% and Jake’s works at 70%” said Jessica.  

Trent has several other diagnoses.  Jessica shared, “Trent is more severe.  He’s got a Rathke’s cleft cyst that sits at the base of his pituitary gland..he is on the autism spectrum, he also has combined type ADHD, vision impairment, he had sensory processing disorder and some developmental delays

Most Doctors Dismissed Their Concerns

After struggling to find a doctor who would take their concerns seriously, Jessica finally found a doctor who listened.  Jonathan recalled, “..we went through a number of doctors early on in Trent’s life. Most of which dismissed it as normal or you’re first time parents, allergies..it was Jessica who really had this feeling or inkling that is not normal or that there was something else.”

Jessica’s determination paid off.  She was able to find a doctor who really listened to her and wanted to help them figure out what was going on.  Jessica said, “She was the first person to sit and actually listen instead of coming in with a preconceived diagnosis what this is just by looking at what I filled out.  She brought nothing in with her but a piece of paper and pen, took notes and listened to my concerns.”

Advocacy Helped get Through the Grief

“I pushed the grief along for so long because I was determined to figure out a way to help him..once I was able to accept the diagnosis and focus on his abilities instead of his disabilities I was able to move on from the grief.”

“So, once I decided I was part of the team instead of just somebody coming in and listening to the doctors, I started challenging and asking more questions and decided this is what is best.  We were working together, I was able to advocate for him more. I was able to say, ‘Hey this is not working for us as a family, I don’t think this is going to work for him.’ So, I really became his voice in that way.”

It was through her advocacy and experiences with Trent that led Jessica into forming her nonprofit company, Collaborative Corner for Exceptional Children. 

Starting Collaborative Corner for Exceptional Children

Jessica wanted to start Collaborative Corner to help other parents who found themselves in a similar situation as her.  She said, “I initially just wanted one centralized hub that people could get simple answers to questions they have..so that way they didn’t have to go to five locations just to find out what they needed to do next or to find answers to their questions.”

Jessica said, I met with them (Trent and Jake’s speech therapists) one time and over one lunch we decided that we were going to start a new organization that was for all families and children with exceptional needs and we were going to help them in any way that we could and offer as many specialist and services as we possibly could.”

Services Collaborative Corner Offers

Kristen who is a co-founder of Collaborative Corner said, “..we have a multitude of services that we offer.  We offer a ground of expert panelists in each of their fields. We offer a panel of speech therapists, feeding therapists, physical therapist, occupational therapists, ASL teachers, behavioral therapists, and IEP advocates.” 

She added, “With these panelists, families can email these panelists directly their questions at no cost; any questions pertaining to their child..so, they have access to us and we will respond to them within 24 hours about their questions.”

Working Moms Making Collaborative Corner a Reality

Jessica, Kristen and Blaire all have jobs working elsewhere.  They are all dedicated to achieving their goal to make Collaborative Corner for Exceptional Children real. They all shared how they balance work, family, and Collaborative Corner.

Blaire, who is the company’s executive director, said, “I work part time..my husband is a firefighter, so we have a really crazy schedule..working on Collaborative Corner, not in the morning.  I’ll do mine on a lunch break or definitely in the afternoon while he (her son) is in tutoring.”

Kristen, who is the director of development, shared how she balances her work schedule; saying, “I’m typically up at five so I can work on Collaborative Corner for at least an hour, answering emails, writing some blog posts. Whatever needs to get done..I’m making phone calls in the car on my lunch break..you can find me at my daughter’s dance studio on my laptop..it has been a real learning curve, finding that balance,..it’s a big juggle but we are figuring it out.”

Jessica also works part time and said, “I also have a part time job..so that does take up a bit of time..but my days are filled with growing Collaborative Corner..because we offer these services after hours, we operate when people get home from work. So I’m often doing phone consultations at 9 PM..we work well into the night, all of us do, every night.”

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Determined Mom Paves Path for Many Others

NICU stay reveals heart defects

When Sandra had her twin boys, they seemed nothing but perfect.  She said, “After a little while, Tony was not keeping his body temperature up and he was not sucking, so they brought him to the NICU.”  It was there at the NICU that they discovered that Tony had four heart defects.  

“He had a very large VSD, he had an ASD and he had something called a right aortic arch; which means his arch is going the wrong way in the vascular ring.”  Sandra said. Those heart conditions are usually associated with a disorder known as chromosome 22 deletion. They immediately sent off for testing and anticipated the results.  A few weeks later, the results came back as negative. This led Tony’s parents to believe that his heart defects were an isolated event and not caused by a disorder.

Having twins reveals differences in development

Sandra said, “..what quickly became evident as the boys were growing, was something was off with Tony.  He wasn’t looking at us, he wasn’t playing with toys, he wasn’t hitting any of those developmental milestones like his brother was.” 

They hoped that he would eventually catch up to his brother but then they started receiving different diagnoses.  “They told us he had cortical blindness, which doesn’t mean he’s bling, it means his brain wasn’t processing his vision.”  

MRI reveals abnormalities in brain

The doctors sent for an MRI to further investigate his cortical blindness.  “That’s when our worst fears were confirmed that something much bigger was wrong with Tony.”  Sandra said. They discovered several brain abnormalities that would lead them to a long and tedious journey.

Sandra said that he had a long list of symptoms that no one was able to tell them what was going on.  Tony was bounced back and forth between different specialists who kept playing the blame game. “..everybody would ping-pong back and forth with the blame game, but no one had any idea of what to do.  That was the most frustrating thing.”

ADNP syndrome

Also known as Helsmoortel-VanDerAa syndrome, it is an extremely rare neurodevelopmental genetic disorder that affects several different systems of the body. Sharing Tony’s symptoms, Sandra said, “He had extra axial fluid and he had poor malnization, cerebral atrophy twice, he has seizures, congenital heart abnormalities, feeding problems, he would aspirate and throw up, he couldn’t chew, he couldn’t swallow, he had a feeding tube, he had global developmental delay, which included gross motor, fine motor, and oral motor.  

She continued saying, “He also has autism, severe cognitive and speech delays, his neurological structural and visual impairments, he’s in diapers, and he has sleep problems.”

Diagnosis brings uncertainty for parents

While most parents receive a feeling of relief in finding a diagnosis for their child, Sandra said that for her, a diagnosis came with more frustration. After getting Tony into every genetic testing available in the country, Sandra finally received a diagnosis for Tony.  The problem was, it didn’t even have a name yet, and there were only 10 other people documented in the world of having it.

Sandra said, “That diagnosis was almost more isolating because Tony was the only child in the U.S. that got diagnosed.” They were given a piece of paper that had little to no information on it.  This proved difficult in knowing what interventions to start Tony with.  

Rare diagnosis opens doors

Tony’s diagnosis stumped some of the country’s best doctors.  Sandra decided, “I’m going to learn about it, this gene.” After tracking down the other families that had the same diagnosis as Tony, Sandra decided to start a Facebook group to help start sharing information with each other.  

After collecting information Sandra decided to compile all of the data on a website.  Sandra said, “I built a website and started putting my statistical data on there and everyone who has since gotten diagnosed, their doctors are directing them to the website.  They were using us for protocol.” Her website is, www.adnpkids.com, where she has a bunch of information for parents.  She wanted to ensure that no family went through the same experience as she did.

Finding an easier way to identify ADNP

This collection of data led Sandra to start working with researchers.  They quickly realized they needed to start a foundation where they could obtain money to conduct further research.  Sandra has been on five medical publications and she helped identify a genetic file marker for ADNP.  

81% of children with ADNP have a full set of teeth when they are one year old. This genetic file marker is only common in ADNP, something that Sandra said could help others be diagnosed early in life and receive proper intervention at an earlier age.  

The happiest kids

Oftentimes children with ADNP syndrome are thought to have Angelman syndrome because they are so happy and cheerful.  Sandra said, “Tony was always a very happy, loving and just a laughing little baby. He still is although he’s very autistic..all these kiddos are extremely hard working.  He’s been doing therapy everyday since he was probably three years old and he does it with a smile on his face. That’s why we call him our superman, he’s a rock star.”

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The Only One in the World

Finding out your son is different

“When I was pregnant with Jacob, we found during one of the ultrasounds that there was a large cyst forming in the back of his brain that caused his brain to form differently.”  Nicole recalled. The doctor gave her an option for termination, Nicole and her husband decided to get a second opinion.

She said, “When we first found out, we were given some pretty grim predictions as to what it would be like.  At first they didn’t even think I would be able to carry to term. Then we found a second opinion and a third opinion, and with each opinion, things got a little bit better.”

Jacob was diagnosed with a single gene mutation, tracheomalacia and developmental delay. “The problem with the mutation is that it’s never been documented before..so right now, we are learning about Jacob as we go.” Nicole said.

What his diagnoses mean

Jacob was having sleep apnea episodes which led to the diagnosis of tracheomalacia, Nicole described it as, “..his trachea is very weak and was actually closing up on itself..No one can actually tell us why or what’s causing it..he still continues to have them even after having major surgery to correct it.”

The cyst on his brain caused there to be a difference in how his brain stem looks.  However, they aren’t sure how exactly it will affect Jacob. Just as his parent’s are learning as they go, Nicole mentioned that the neurologists they are working with are learning too, saying,  “..this is definitely something new. When they look at the brain scan, they can’t find one similar to Jacob’s.”

Not knowing is the hardest part

Jacob is truly one of a kind.  Since there are no other documented cases similar to Jacob, Nicole finds frustration in not knowing what to expect for him.  She said, “We don’t know how long he will live, or how long he will be here with us. Will he develop, will he not develop, will this eventually go away? We just don’t know.”

When they travel, they have to bring several pieces of equipment; oxygen equipment and suction equipment. Some of their friends weren’t able to deal with the stress of it all.  Nicole said, “I think that’s been really hard, losing some friendships..it has been really hard because you can feel quite a load at times.”

Being lucky with family

Nicole said, “Regarding my immediate family..they just jumped right in..they have come to by side at the hospital; even the days that I don’t want them there, they are there anyway..One of my sisters has taken the liberty of getting trained to deal with all the equipment so that she can come in and give us a little break to take care of Jacob.”

They have felt continuous love and support of their family since they found out that Jacob was going to have some abnormalities.  Nicole’s mother said to her, “It doesn’t matter, we love Jacob no matter what.”

One of a kind joy

“I don’t even know where to start with those because honestly, for as scary and difficult this journey has been, it has probably been the most amazing journey for both my husband and me.” Nicole Stated

She continued saying, “We always say that if we were told this again, we would never change our minds because the joy that Jacob brings us is just one of kind..he’s kind of defying the odds..he’s teaching us to live in the moment, appreciate the small things, stop worrying about the big things, stop having expectations and just start to appreciate the little things that happen everyday.”

Finding your tribe

Jacob spent the first year of his life in and out of the hospital.  Nicole was able to meet several other moms there and form a special relationship.  She said, “.,we call ourselves ‘our tribe’. We can literally message, email or call each other, and we live far away from each other.. Surround yourself with people in similar circumstances if super helpful.”

She also advised reaching out and asking questions to other parents, saying, “Don’t be afraid or intimidated to reach out to somebody if they’ve touched you or you have a question.  I found that to be so helpful to me..talking with a parent who’s going through it is the best piece of advice I can give.”

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Rare Diagnosis Brings Joy and Love for Parents

Baby missing developmental milestones

Early in his life, Kayla and Josh noticed that Parker was falling behind developmentally.  However, Parker was their first child. Josh shared, “Well we went through, you know he’s out first kid.  Part of it you don’t know what to expect with your first kid.”  

After realizing that he wasn’t where he should be they took him to their pediatrician who explained that there is a wide variety in children.  They wanted to think that nothing was wrong. Around the time Parker was 12 months old, they realized it was more than just differences in children.

Whole exome sequencing genetic testing

Parker had just started army crawling when they started looking at other possibilities behind his global developmental delay.  Josh said, “.there was a year long deal of just trying to rule things out. We had a really good genetics doctor..So he put us through to get the testing, the whole exome sequencing, which is still kind of a new deal.”

They were lucky to receive their results quickly and their insurance covered the test.  Kayla said, “I didn’t expect to get a diagnosis. I had read that there’s maybe a 25% chance that we would get one from the whole exome sequence thing.  Just generally I was surprised for then it to be something so rare.”

ADNP syndrome

Kayla described Parker’s diagnosis as, “ADNP syndrome is a rare, complicated, neuro-developmental condition…you start out with global developmental delays, speech is severely affected, many of them have autism and intellectual disability.”

She continued saying, “It affects you know various systems.  A lot of kids have heart defects, sleep apnea..abnormal MRIs.  Some children have had brain atrophy, so it affects a lot of different things, and the children in different ways.”

Paradigm shift

Kayla described that for her, changing her view of what Parker’s life is going to be. “I think kind of coming to terms with that.  Just the whole change in what I expected his life to be..probably realizing that the chances of him living independently as an adult are very slim.”  However, she noted that since Parker is such a joy to be around that she doesn’t ever want him to leave.  

Josh also experienced a change in his expectations as well.  He said, “..you have an idea of what you’re expecting your life with your son to be.  Your typical take him to the baseball game or the football game. So you know and that kind of just goes out the window.”  

The joy in raising a child with a disability

Despite having to find a new reality with Parker, both Kayla and Josh described the undeniable joy Parker brings to their life.  Josh said, “He’s a happy kid..he’s got this inner peace and joy that’s just contagious..I mean he puts a smile on everyone’s face, and that’s just who he is..he’s just a happy, mischievous, loving and even caring I would say.”

Feeling like Parker has made a great impact on everyone he meets, Kayla said, “I feel like he is changing all of us for the better, I feel like anyone that gets to know him, their lives are impacted by him.  I can see kind of our group of friends, all their children are typically developing, and as they kind of learn about Parker, I can see him touch them as well.”

She added, “I would say that whenever it’s been a really hard day with all the therapy, or he’s had a meltdown or whatever I’m upset about it, and Josh will always remind me, ‘Just forget about all that, and just go play with him.’  and sure enough he gives me one of those huge hugs.”

Wouldn’t change a thing

At first, when Josh heard parents of children with disabilities saying that they wouldn’t change anything about their child, he thought, “They are  just saying that.” Now, having Parker he said, “I would not do anything differently. I love that kid, I really do.” He also gave advice to other parents who have a child with  ADNP syndrome. He said, “Enjoy it. It’s a blessing. It doesn’t sound like it when you first get the news, it probably doesn’t look like it, it’s scary, but man, it’s a joy.”

Finding her people was what Kayla described as, “a huge blessing.”  Shortly after Parker’s diagnosis, she was able to connect with other families on Facebook.  She said, “The parents of the older children, they want to help you, and they want to guide you, and they’re going to give you information that’s going to help your child.”

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The Impact of One Person

Finding out your child has multiple diagnoses

When Farah was six months old, she was officially diagnosed with cerebral palsy and cognitive impairment with a seizure disorder.  Connie said, “I saw them much earlier than anyone else sis as a mother..she was having seizures.”

Describing receiving a diagnosis as “one of the darkest days of my life” Connie was mourning the life she thought Farah would have.  At first she struggled to accept that her daughter was going to be different. Connie was able to come to terms with Farah’s diagnosis and now says that Farah is the greatest thing to happen to her. 

As usual, doctors from this time era, recommended that Connie put Farah in an institution.  They felt like if Connie’s family was going to experience life as they should, they needed to institutionalize her.  Connie said, “..we couldn’t; she’s our daughter and our little angel, and I would never put her under someone else’s care”.

She requires total-care

“Farah is what we call ‘total-care’.  She’s like an infant, she depends on us for everything. We have to bathe her and feed her..you have to worry about her water intake, whether she is hot or cold, just everything.  You have to become aware of her needs. She cannot talk; she’s not vocal, so you have to learn to pick up signals from her.” Connie said.

There are varying degrees in severity with cerebral palsy.  Farah is more severely affected in the fact that she is total-care, non-verbal and is in a wheelchair.  Cerebral palsy affects your ability to control your muscles due to abnormal brain development.

The simple joys of having a child with a disability

“Just a smile fills your heart because it’s such an innocent smile.  You learn to appreciate all kinds of little things, and I think it has drawn our family a lot closer.” Connie said.  Farah was fortunate enough to live close to her grandparents. Connie described her dad as, “He was an old farmer, and he was very gruff and rough.”

Despite this, he was very gentle and loving to Farah.  Connie said, “He was darling with her. He would come over..and every morning take her for a ride in his wheelbarrow, and it brought our family closer together.” 

To keep the rest of her family in the loop, Connie has a Facebook page for Farah.  “My other siblings and their children..everybody follows her on Facebook. They are all interested, and no matter what’s happened to the people as they’ve gone their different ways, they all check in on Farah.  They don’t check in for anyone else, but they all know what Farah is doing, so Farah has drawn our family and extended family as well, together. I don’t think anyone else could have.”

Impact of Farah on the community

Connie shared a touching example of the positive impact that Farah has had on her community.  She said, “We had a birthday party for her when she was 40..we had 300 people show up in the rain to commemorate that birthday, coming together with the community and friends to tell us stories of how she has influenced their lives for it.  It was a marvelous experience, something that we weren’t expecting.”

Connie has wondered why Farah is still on this earth when she is suffering.  She has come to the conclusion that she is here for the betterment of everyone around her.  Her family, friends and the community.

Having a child with a disability is a great accomplishment

When asked to share her advice, Connie said, “I would say number one is to look at this human being as truly one of the biggest and best accomplishments you will make in your life.  I think that you will grow more by taking care of this little child in ways that there’s no other way that you could grow.”

There are three of four people who have helped Connie in taking care of Farah.  To their surprise they too had a child with a disability. They later told Connie, “We knew that we could do this because your family has done so well, and because we can see the light and the brightness that she brings into your home.”

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A Sibling Story: A Unique Perspective

“All Three of My Older Siblings Have Disabilities”

Will is the youngest of four children and all three of his older siblings have disabilities. His sister has Down syndrome and he has two brothers with autism, one high functioning and one low functioning. “It was definitely interesting to get that type of perspective growing up,” said Will.

The Glass Child

Many children who have siblings with disabilities feel like they are the glass child. “Meaning that we’re fragile like glass but that our parents see right through our needs to directly address the needs of my siblings,” said Will. “That was something that really hit me…realizing that my needs weren’t necessarily addressed because they were so focused on my siblings.”

Will turned to basketball and other recreational activities. “Basketball has taken me where I am today, and I love the game,” said Will. He also enjoys being able to bike with his brother. “I love to bike everywhere. My brother Beret and I would bike pretty much anywhere.”

Will feels like cycling was a great sport for him. “It was not only a great opportunity for me to express myself through that kind of outlet, but also it empowers me and helps empower my siblings as, in ways that I never really could have imagined,” said Will.

Special Olympics

“All three of my siblings participated in the Special Olympics growing up, so I had a really close association with them,” said Will. “My brother did track and field, my sister did swimming, and my brother Beret did basketball and swimming. From an early age, I was immersed in sports and the disability community.”

“I Didn’t Really Have a Childhood to a Degree”

Will didn’t realize his family was different until high school, when he became more involved with friends. He noticed his friend’s families and realized his childhood and family were a lot different. “I thought that I didn’t really have a childhood to a degree, because so much of it was focused on taking care of my siblings,” said Will.

The Hardest Part

“I think the hardest part was in trying to embrace it. What I mean by that is that I always would remember my dad trying to take us to different activities, like a normal family would do, such as going to the zoo,” said Will. He remembers family activities turning to disasters when his brother would try to run away, or people would give their family unkind looks. “That really kind of stuck with me, that people didn’t necessarily understand and were really quick to judge,” said Will.

Will tried not to associate with his family during these outings. “I would walk behind them because I wouldn’t really know what to do,” said Will. “I would try to help handle the situation if my dad asked me, but to a degree, it was more like I was embarrassed.”

As Will started getting older he realized the importance of helping his siblings succeed by helping them be in the right environment. “They had a different way of thinking of things,” said Will.

Their Successes Have Brought a lot of Joy to Their Family

Will describes feeling joy when he sees his siblings succeed. “Whenever they accomplish something great, like graduating from the Special School District or accomplishing the goal of being a part of the Special Olympics, you could see how much joy it brought,” said Will.

Will described how hard his parents worked at helping his siblings have successes. He watched his parents devoted service to his siblings. Besides sports his siblings were also involved in art, dance and humanities.

His sister works in a sheltered workshop and is involved in a dance program. She currently has a boyfriend. “Probably one of the best moments I’ve experienced is when she met her boyfriend, who also has Down syndrome. They’ve been dating for five years which is absolutely incredible,” said Will. “They’re the cutest couple which is so nice to see. And, seeing the genuine love and affection they have for each other has had an impact on all of us.”

His brothers are able to live independently with assistance. One of them even saved up money to buy a car and got a driver’s license. “It’s a testament to what I was saying before, that it’s mainly about the environment that you put them in,” said Will. “I guess that was the biggest joy that I’ve had with my brother.

“It’s the little victories with my sister, it’s the victories that I see with my brother…, and then it’s the amazing growth that my brother has experienced growing and learning these independent skills and really becoming a functioning member of society,” said Will. “I’ve seen those joys through three different avenues, and if anything, it has given me a lot of perspective as to what I should appreciate in this life.”

“I Wouldn’t Trade it for Anything in the World”

Will feels like his childhood has helped him become the person he is today. “I wouldn’t trade it. I really wouldn’t, because even though it was a tough childhood, it really shaped me by giving me that perspective in terms of what I really wanted to do with my life,” said Will. “Those are the kind of things that I think about in terms of life growth and development as a person.”

“The way that I was raised allowed me to understand where everybody is coming from. It has given me a sense of knowing my place in life, because of how I was raised,” said Will.

The post Will: Down syndrome and Autism appeared first on Orangesocks.org.

Every Baby Deserves a Chance

Finding out your son is going to be different

Alyssa recalled the moment they first found out that their son, Will, was going to be different than what they expected.  She said, “During the ultrasound, our doctor saw a cyst and said what he described as ‘a horseshoe.’.the head measured smaller than it was supposed to, .so he sent us up to Madison Memorial Hospital that has more updated equipment where they could have a radiologist look at it.”

The next day their doctor received the results and called Alyssa and Ben.  It was what he had previously thought, there was a cyst and his head was measuring smaller than it should have.  He recommended a specialist to look at it to make sure. The specialist was able to see them a few days later and gave them a grim diagnosis.

He told Alyssa and Ben that their baby had an encephalocele, the brain was being pushed into a sack.  He said that their child had less than one percent change of living past 30 weeks pregnancy.  They asked, “What about if the baby lives?” To which he replied, “I guess there is a chance, like a tiny, tiny chance, and if the baby lives, he’ll have absolutely no quality of life. He won’t most, he won’t walk, he may live a couple of hours after birth, and if he lives more than that, he won’t do anything. He’ll be a vegetable.”  The only thing he could offer them was an abortion.

It took awhile for reality to set in

After they received this news, Ben said, “I was definitely very, very scared, and I don’t think it really hit us.  It took a while for it really to sink in that there wasn’t going to be a possibility for Will to survive.”

A few weeks after they met with the specialist is when Ben said they really felt the full facts of there being little to no chance of Will surviving.  He said, “It was kind of like a slap in the face..so it was definitely very scary and almost not realistic, like not real.”

Choosing full intervention after birth

After Alyssa hit 31 and 32 weeks, they realized that Will was doing great.  They planned for his birth with a scheduled C-section. The doctor told them that she didn’t expect Will to live.  Alyssa and Ben said that they wanted full intervention so they could have a little time with him. Their doctor agreed.  

With the big machines booted up and the NICU teams standing by, they started her C-section.  Alyssa said, “..the doctor who said that he would come out blue and not breathing, took him out and suctioned his mouth, and then he opened his mouth, looked at her and screamed and started crying right at her.”

Having one plan after you give birth

They had been told for most of their pregnancy that Will would die either before, during, or shortly after birth.  Alyssa and Ben shared that their only plan after he was born was to have a funeral. They had picked out the cemetery plots, and the casket.  “That’s what our plan was; we didn’t really plan for when he would live because no one gave us hope.”

They had to quickly drop their original plan and come up with a new one.  Will shocked all of the doctors with how vigorous and how well he thrived.  

Cutis aplasia congenita

After he was born, Will received his official diagnosis of cutis aplasia congenita with a developmental delay.  Typically when someone has cutis aplasia they have a quarter sized hole of missing skin in the back of their head. Sometimes the bone is there or not there. Will is missing the entire back of his head.  

Typically, they can let bone and skin grow in, however, Will’s is so significant, Alyssa said, “..It gets really difficult as to ‘how so you cover that with no bone to cover?’ Surgery-wise, it was very difficult and very hard.”  Will has had 13 surgeries for different skin grafts and is expected to have several more for additional skin grafts and for bone grafts as well.

Embracing differences

“One of the ways it has impacted us is just to embrace differences, and know that it’s okay to have a child with a disability..it doesn’t have to be a bad thing just because it’s different or just because we don’t understand it.  It’s just that he’s different and it’s okay to be different.” said Alyssa.

Ben attributes Will to bringing Alyssa and him closer together.  He said that, “I think in general it has affected everyone a little differently..it has definitely been a transition for a lot of family and friends to be able to know how to interact with us and him.  It has not always been easy for them. It’s not always easy for us, but I actually think in general, it has definitely been a good transition for everything to have him here.”

Knowing you did everything for your baby

This is something Alyssa wanted to be able to say.  She chose not to abort Will because she wanted to know that she gave him a chance, she said, “One doctor said that, ‘You know, I encourage you to have him and the University of Utah Hospital because everything is there, and if he passes away, you know you did everything you could to give him the best chance.”

Ben added, “All children who have disabilities are here for a reason, and they are all definitely here to make differences in people’s lives.”

The post Alyssa and Ben: Aplasia Cutis Congenita appeared first on Orangesocks.org.