Inspiring life despite a diagnosis

Immediately following his daughter's birth, the doctor told them she suspected their baby girl had Down syndrome.

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.  

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.

When Matt was only 3 hours old, Wendy was told he had Down syndrome. When we asked her how she felt receiving that news she told us, "I think I every emotion known, I was going through. I experienced shock, fear, trauma, devastation, anger. I thought, what did I do? Why me? I was afraid that my life had just been ruined'

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.”

First signs something was wrong  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. 

utero something was wrong and were candid about their worries and stress.  When Hadley was born all of that changed. 

for good.  She is a fierce advocate by paving the way for future research to help others who may receive the same diagnosis.

Matthew has three very rare abnormalities. He has been diagnosed with Goldenhar syndrome, agenesis of the corpus callosum, and an extra copy of his 78N22 chromosome. Now at 12 years old, Regan, Matthew's mom, shares her experience with Matthew so far.

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. 

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.

Wrayanne was a first time mom when she learned her daughter, Morgan, was born with a rare severe epileptic seizure disorder. Wrayanne was candid about her struggles and her hopes for Morgan's future.

Lily was born at 24 weeks gestation weighing only one pound. Lily is a twin and unfortunately, her sister was stillborn. Lily has Bronchopulmonary Dysplasia. Her mom, Jess talks about the grief of losing a child while dealing with the news her daughter had a disability.

In this episode, we dive into the history surrounding the formation of the Special Olympics. We interview Rebecca Ralston, who is the director of the Young Athletes Program of The International Special Olympics.

Amy Jandrisevits created A Doll Like Me, so kids with physical differences could love and cherish their very own doll that looked exactly like them. She personally makes each doll by hand, and to date she has raised more than $225,000 to help off set the financial burden for those who could not otherwise afford a doll.

Candace comes from a big family; 11 children to be exact. The youngest child was born with Down syndrome. Candace shares her special relationship with Angelita and how she has impacted her family and life for good.

In this episode, Gerald talks with Josh Veach, the co-director for Go Shout Love. A cause-driven for-profit  business that raises funds and awareness for families on unique medical journeys.  Go Shout Love The formation of Go Shout Love Go Should Love was first created by Kristen Estock in 2014.  She used her blog as a platform to tell a family’s story about their child who had spinal muscular atrophy or SMA.  Now Go Shout Love is a cause-driven for-profit business that raises awareness and funds for families with rare medical needs.   As a for-profit company, Go Shout Love has an online store that shares 50% of the proceeds to directly help families. Josh Veach, the co-director of Go Shout Love shared a few examples of the type of care Go Shout Love provides.  He said, “For some families that might look like helping contribute to the cost of repairing or getting a new handicapped accessible van or making their home more handicapped accessible.” Josh also explained how each month, Go Shout Love has new t-shirts in their online store that are inspired by the child they are featuring for the month. Go Shout Love’s mission Later Josh shared what his team of seven dedicated members hope to accomplish with Go Shout Love.  He said there are two main things they are trying to achieve through their platform of Go Shout Love.  The first is the tangible gift of money, the second is the connection of story and love with others. Josh described the second goal of Goal Shout Love as the real sense of accomplishment his team and he feels. “We want these families to have a place where they’re heard and loved and supported.” The process of being sponsored on Go Shout Love There are two main ways that someone can be sponsored through Go Shout Love.  Josh described the process as, “Kind of how the process works is they get nominated through our website.  Families nominate themselves or maybe a friend or family member nominates them.” After they receive a nomination they look to see if the family would be a good fit based on certain criteria. The families are then able to share their story through video.  For one month the family is featured on their website and their story is shared.  Throughout the month, all of the items on their website sold, 50% of the proceeds will go directly to the family. Challenges and joys working for Go Shout Love “The joys are getting to meet the families and the kids..to know that, that check we are getting ready to send is going to tangibly make a difference in their everyday life is incredibly rewarding for me.”  Josh said. Being a business is what Josh described as being challenging.  He shared, “We have to navigate tough times or low months or even in the midst of this season where the economy is in a really difficult position.  Our ability to provide not only for our families but also continue to pay our team members in a fair wage..I think the biggest challenge in the big picture is that we are limited in how many families we can help.” The impact this line of work has on someone Josh shared how this journey has impacted his life.  He said, “When you meet people who have navigated and are navigating extremely difficult situations with grace, with strength, with courage, it is impossible to not be impacted by their stories.”  He continued by saying, “It has given me an overwhelming realignment in my perspective in my lens in how I view the world, how I view other people.  Especially people that look and act in every way possible different than me.” How to get involved Go Shout Love has several different avenues that people can get involved in.  They are on Instagram, Facebook, and Twitter.  You can find their website at https://goshout.love/.  There you can find additional ways to get involved and find their store, podcasts, and their family stories.  “Look for the opportunity to be the good.”  These were Josh’s last words.

Denise shares how her son, Matt, who is on the autism spectrum inspired her to create two amazing companies that strive to better the lives of people with disabilities.

Katherine has a sister she never knew existed until she was 12 years old. A sister, who is profoundly disabled was placed in an institution as a young child. Katherine reconnected with her and has become her guardian.

Dr. Gerald Nebeker talks about a few adoption agencies that help facilitate international adoptions for children with disabilities. In this podcast you will also hear from Michelle, the CEO of Reece’s Rainbow as well as Kecia and Chris who have adopted two children with Down syndrome from the Ukraine.

Dr. Gerald Nebeker talks about early intervention services that are available to children with developmental delays and disabilities.  Gerald speaks with Kristin who is the director of the Early Intervention program at RISE. She explains who is eligible and the purpose behind early intervention. Early Intervention According to the CDC, early intervention is a term used to describe services offered to children ages birth to three with developmental disabilities and or developmental delays and their families.  There are several different types of services offered through early intervention. Depending on what the child needs, they can receive the following services: speech therapy, physical therapy, or occupational therapy. Each state has their own early intervention program.  These programs are publicly funded and provide services at a reduced cost or for free for any child who is eligible.   Early intervention is focused on ages birth to three.  This is a critical learning point in a child’s life.  The main goal of early intervention is to help with delays as soon as they become an issue; rather than waiting until later.   Is My Child Eligible for Early Intervention? Kristin, who is the director of the Early Intervention program at RISE, helped explain who qualifies for services.  She said, “..we’re looking at children that are birth to three that are demonstrating a developmental delay, whether it’s a mild to a significant developmental delay those are the children that would be eligible for the program.” Kristin then gave a great example of a developmental delay.  She said, “..for example when a child is walking.  We would expect a child to be walking between the ages of 12-15 months, and so if you have an 18-month-old child that hasn’t started walking yet, we would consider that a developmental delay.”  Determining if a Child is Eligible for Services At the pediatrician, parents or caregivers are asked developmental questions about their child.  Pediatricians use these to help find children who may need additional support.  The pediatrician will refer that child for services.  Depending on where you live, the eligibility criteria process and criteria can vary.   Kristin is in the state of Arizona.  After they receive a referral for services, a member of their team will assess the child in five different categories to determine if they qualify for services.  Those categories are: cognition, language, motor skills, social emotional skills, and their adaptive or self-help skills.   Members of the early intervention team use a standardized assessment to assess where the child is at for each of the five areas.  Who Pays for Early Intervention? Depending on which state you live in, depends on which department is paying for the early intervention services.  Kristin said, “The services are provided by contractors within the state.  Every state is different, some are through the Department of Education, some of it’s through the Department of Health and there is federal funding that supports early intervention as well, and that's the IDEA Part-C.” What Happens After Age Three? Early intervention is only ages birth to three, what about the children who require additional supports after they turn three?  Kristin explained that part of the early intervention is helping with the transition to other services.   Some children go to a special education preschool, some children can qualify for a Medicaid program through their state, and others, if they choose, can use their private insurance to pay for additional services the child might need. Family is Critical for Success in Early Intervention Part of early intervention is helping support the parents in their home with their child.  Kristin said, “Practice makes perfect.”.  In the case of early intervention nothing could be more true.  Our brains require repetition to learn something new.  

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."

Even though the country has a record low employment rate of 2-3 percent, people with disabilities have an unemployment rate of 65 percent. Why is this?  In this Podcast Gerald talks about with proper training, coaching, and job matching, people with disabilities are able to become dedicated employees. Employment Opportunities for People with Disabilities Unemployment Rates There are 48.9 million people in the US with at least one form of a disability.  65 percent of those are unemployed. With the national unemployment average at 2-3 percent, it’s shocking that people with disabilities have an unemployment rate so high.   There are several reasons someone with a disability could be unemployed.  Some perhaps don’t want to work, for some it’s an accessibility issue, and for others it could be an issue of training.   Why Not Hire Someone with a Disability? There are several jobs out there that someone with a disability could do if given the proper training.  For instance, sorting hangers at a clothing store, janitorial work, cleaners, or stock clerks. None of these jobs are made up, they require somebody to do them.  Given the right training and matching of skills, somebody with a disability could fill those needs. Using Their Strengths to Help People with Disabilities Find Employment Gerald shared a wonderful example of employing someone with a disability.  Bob is on the autism spectrum and loves to sort things. Bob rarely speaks and has episodes of self-injurious behaviors or aggressive behaviors towards others.   At first you might think Bob is unemployable.  However, with some creativity and using what skills Bob has, he found the perfect job.  Bob sorts maps for the Forest Service. He is great at it, it doesn’t require communication with others while sorting, and his aggressive behaviors are non-existent while he is sorting. How do People with Disabilities Find Employment? There are organizations like RISE, Orange Socks’ parent company, that have contracted with the state to supply supported employment.  RISE has staff who contact businesses and explore their needs and how someone with a disability could fulfill those needs. When the person is placed in the job, they get a job coach who shadows the client making sure they perform the required task.  At first that shadowing could be full-time, but then it’s gradually faded to a point where they no longer need a job coach.

Jessica and Johnathan were shocked and relieved to receive a diagnosis for their son Trenton. Jessica struggled for years to find a doctor who would help her. Her journey in advocacy led her to start a nonprofit organization called Collaborative Corner for Exceptional Children. A company dedicated to helping parents find resources and become advocates for their children with disabilities.

All Maria wanted was to be able to get the chance to tell Serenity how much she was loved. She said, “I just prayed and I asked God if he could just give me fifteen minutes to love her. To tell her how much I loved her.

In this episode Dr. Gerald Nebeker talks about NIPT prenatal testing and how the results are often misinterpreted.  NIPT Testing What is NIPT? NIPT stands for noninvasive prenatal testing. Doctors often use NIPT to screen for genetic abnormalities.  It is considered non-invasive because the test requires blood from the mother. They are then able to differentiate between the fetus’ DNA and the mother’s.  While this test is considered to be very accurate, Gerald points out some cautions. “It’s important to know that it's a screening test only. A positive result doesn’t necessarily mean the baby has a condition. The test results show that the baby has an increased risk but it cannot diagnose a disorder” Beware of How Statistics are Represented The NIPT test boasts a 99% accuracy or 99% sensitivity.  However, if you receive a positive result, this does not mean that your child has a 99% chance of having that condition. When quoting Bloom Life Gerald stated, “NIPT can detect over 99% of fetuses with Down syndrome but a positive result on a NIPT does not mean that you have a 99% chance of having a baby with Down syndrome.” Chance Result Sometimes NIPT gives a chance result when the baby does not actually have the condition.  For instance if you are given a high chance result for Down syndrome there is 20% chance the baby does not have Down syndrome, for Patil syndrome there is a 50 chance the test is wrong and for Edwards syndrome there is a 60% chance the test is wrong.   You will still need to get further testing such as an amniocentesis to confirm a diagnosis.  Why Get NIPT? Even though NIPT there can result in a false positive or negative result, when used as a screening tool, it can be effective in helping to determine if further testing is required.  Some women have mentioned that because nothing is guaranteed they wouldn't want to have a NIPT done. Others have stated that they want to be prepared for the possibility of having a child with a condition the test screens for. Gerald said, “I’ve done a number of Orange Socks interviews where a screening test indicated something wrong with the baby and the parents were strongly encouraged to terminate the pregnancy. Only to find when the baby was born that he or she didn't have that condition.” Tamara and Matthew's Experience with NIPT While Tamara was pregnant with their son Grayson, they had a NIPT done to determine the gender of their baby.  They received the unexpected news that their child was at high risk for Down syndrome.  During their follow up interview, after Grayson was born, Tamara and Matthew shared their experience.  Even knowing their screening results, they grieved the fact that Grayson did in fact have Down syndrome.  However, they have come to realize they had nothing really to worry about. >>See Tamara and Matthew's interview here 

Rocky admits that at first he had worries and concerns about raising a child with special needs, but these concerns quickly dissolved. He tells us "The joy that comes when you sacrifice for other people and other things...It helps you to focus on the things that really matter in this life and to take joy in the simple things that we often take for granted."

Stacy said that her daughters have been a blessing from the beginning but that she had to adjust her thinking to a different path than what she had expected. Now they are just "Sydney and Logan. Stacy tells us, "They are actually easier to raise than my other two daughters who are non-delayed." Despite the challenges they know it is worth it. "Everyone has problems, you just have to adjust...They are worth it. I wouldn't give up anything. I love coming home...," said Terry. He loves that his twin daughters still live at home and he gets about 20 hugs a day from them.

Cathy McMorris Rodgers and her husband Brian Rodgers found out their son Cole had Down syndrome at his birth. "It was tough. The doctors laid out a lot of things and it was very difficult. The fear of the unknown is what is overwhelming in that moment. Go talk to other people, don't make an isolated decision. Educate yourself, I remember when we go the news about Cole, that so much of it was focused on the negative. It was focused on what health issues he may have or other challenges. Rather than really being told what the potential was."

 Jessica is a single mom and the parent of two boys, Britton and Chewy. Britton was born at 28 weeks gestation weighing only two pounds and 14 ounces. He is 13 years old now and has had many health challenges, including a stroke and brain bleed which has resulted in Traumatic Brain Injury (TBI).

For this Good In Our Community feature, we're featuring Betrayal Trauma Recovery. This is a great resource for anyone that is parenting a child with special needs, that has a parter who is abusive. Here is a blog written by their founder, Anne Blythe: We all know women raising children with special needs. But in some situations, these women are also dealing with abuse in their relationships privately. Anne, founder of Betrayal Trauma Recovery, states, “A lot of people see the disability from the outside, but they don’t see anything that is going on in the inside, like what types of things are going on with their spouse. Women may be free and open to talk about their children’s needs and the disabilities, but they are quiet about the private suffering due to abuse in their home.” Parenting Children With Special Needs Is Difficult In An Abusive Situation June, a single mom of four children, all of whom have special needs of varying degrees, was in this situation. She suffered private abuse by her husband, while trying to fulfill the many needs her children required. On the outside, things may have looked well-managed, but the abuse was not seen or recognized because the disabilities were more visible and that is what most people paid attention to. She explains, “All of my children have been affected by trauma from seeing abuse in the home, in regards to how I was treated by my husband in front of them. He was extremely verbally and emotionally abusive and eventually physically abusive to me in front of them. Regardless of whether or not a child has special needs, the treatment for children who have been impacted by trauma and children that have special needs overlaps greatly.” June adds how she found great value and connection in local and online communities that offered support for parents of children with special needs. For any parent of a child with a disability, finding a community is something that is essential. Orange Socks, is one such organization, that aims to help families find a new normal as they navigate through the grief that comes when they’re told that their little one will be different. For victims of betrayal trauma, the importance of finding a community is just as important and essential. Children With Special Needs Are Profoundly Impacted By Witnessing Abuse In The Home The difficulty of being in an abusive relationship while at the same time trying to parent and raise children with special needs is undeniable. The challenges involved in this situation can be unimaginable. June describes how this situation impacted her as a mother, “I tried very hard to save my marriage. I delved into learning all I could about porn use, unhealthy relationships, overcoming affairs and infidelity, and abuse. It became clear to me that the situation I was in was taking away from my ability to be the best parent I could for my children. So much of the time, I was in trauma repeatedly from daily verbal abuse, emotional manipulation, sexual coercion, and spiritual abuse and it impacted by ability to really be present for my children and advocate for them.” Abuse Must Not Be Normalized Or Modeled For Children With Special Needs Being in an abusive relationship can hinder a woman’s ability to be the best parent she can be because she is in a constant state of trauma. Implementing boundaries and learning about abuse and toxic relationships can help empower women in these difficult situations. June shares the point of intersection that became undeniable for her to realize her situation was not sustainable, “My son did not speak until he was age 5. The turning point for me was when he started talking, I realized he could start mimicking the verbal abuse he was hearing in the home and repeating the horrific words I was being called by my husband. I knew it was a impacting my children and would continue to impact them. I did not want this abuse to be normalized for my children any longer.”

They told us they thought he had a form of dwarfism based on his femur length. His femurs are shortened and curved, which is a marker for other conditions. At 32 weeks we got the results back that it was Osteogenesis Imperfecta- also known as brittle bones.

"I held her and I cried and the nurse held me and from that moment on I said “I don’t care about anything else other than protecting her and doing whatever it takes to keep her happy and safe and loved.”

Adrianne and Jason had two biological daughters and an adopted son when they adopted and their daughter Maria from the Philippines. Maria was born missing all 4 limbs, a condition known as Tetra Amelia syndrome. Tetra Amelia syndrome: Exceeding Expectations Adoption After a rough second pregnancy Adrianne and Jason decided they wanted to adopt to complete their family. They have adopted two children from the Philippines.  Their daughter, Maria was born missing all four of her limbs. Upon first seeing Maria’s picture Adrianne questioned “Well what do you think?” Jason replied “I don’t know, why don’t we?”  Preparing for Maria They had no experience with someone with special needs, so they had to search and find resources, ask questions, and prepare to adopt Maria. They found several individuals with the same condition as Maria. “..it seemed like almost every person we could find who had this Tetra Amelia was for the most part a very productive member of society, living a very good life. That really brought us a lot of comfort as to what kind of life our daughter could have.” Finding Resources Adrianne recalls “we were able to go online and find other families with kids with similar conditions and ask them questions, and find resources in our area. I guess for us that was the hardest part, just finding all our resources.” “This was our first child with special needs, and we didn’t really know how that all worked and what resources were out there, so it took a little bit of research on our part.  The Cost of Adoption For Jason, his concerns were different, “How am I going to pay for everything?  Adoption in itself is expensive, and then to adopt a child with special needs started my gears turning about what this is going to cost us. I had some reservations about that, but I think there are great resources out there. "We Got to Watch her Grow Up" “When we first brought her home, she was just over two years old.... She didn’t know how to play or interact, so we’ve watched her grow and find ways to interact with us.” Jason continued “We found out what she enjoys; she likes being in swings, and she likes movement.” Adrianne has found great joy in watching Maria overcome things. “We put limits on her abilities, and she just turns around and does things we don’t think that she is capable of doing. She surprises us every day with things that she learns how to do. She is just so smart, and she is so willing to try everything.” “It’s Going to be Okay” In her advice to other parents Adrianne says, “There are so many resources and different groups. Through social media, there are all sorts of different limb deficiencies or different conditions, and you just take it one step at a time, because they are going to start as a baby, doing the same things that all babies do. Then as they grow, you kind of grow with them, and you know learn how to do different things in a different way” ‘For the most part, they are really smart kids, and they figure out how to do things on their own. I’ll try to show Maria how to do something, and she kind of shakes her head like she doesn’t want to do it that way and she’ll find her own way to do it.’ Kids Just Want to be Loved Jason added, “...like any other kids, these kids just want to be loved. All kids need a family. They want to be loved, and if you love them, they are going to love you back.” “They really don’t know any different when they are born that way; we look at it as a deficiency because we were born and raised with arms and legs, and we learned how to everything just like every other kid, but they are born that way and don’t know any different, so they grow up that way and learn how to adapt.”

Jori and Dan have a very unique son named Luxton.  He is one of three cases in the world that has autosomal recessive centronuclear myopathy type 5. Luxton however is the only one in the world that has two mutated genes. Autosomal Recessive Centronuclear Myopathy Type 5: The Only One Something Was Wrong Luxton’s doctors knew there was something wrong right off the bat.  However, no one really knew what it was. “He couldn’t breathe on his own, they called a code blue.” Jori recalls.   She continues by saying, “ They had a laundry list of things they thought it could be.  His MRI showed some brain bleeds. They thought he had Gyneschemic brain injuries because he did have a rough delivery so he was restricted in utero.” “It’s Terminal, Whatever he Has” At three weeks old his oxygen dropped to the 20’s and Jori and Dan were unable to find a pulse.  They were admitted for three months on and off and the doctors were still not able to find out what was wrong.  “It’s terminal whatever he has.  So don’t expect him to look at you, don’t expect him to laugh.  He’s never going to play with toys. He’s never going to walk, he;s never going to crawl, he’s never going to sit up, he’s going to be a vegetable.”  Official Diagnosis at 16 Months After 16 long months, they received a test called a microarray.  The test showed small deletion on chromosome two. “Well we got the diagnosis and I remember the lady walking in the room.  She was like “so we found something this is a gene it affects but we have no other records of this being found”  “The other two records that are very similar is both kids are trach vented and doctors said that they don’t have a very good prognosis” I was devastated” Jori mentioned.   “Just be his Mom” In the first couple months of Luxton’s life Jori was struggling, she was feeling sad, guilty, jealous and like she couldn’t do it.  Dan put things in perspective for her by saying “Jori stop listening to the doctors, stop looking at everything they are telling you is wrong and just be his mom.” “I stopped looking at what he’s never going to do and what everyone's labeling my child as and once I stopped doing that,  was able to pay attention to what he can do… and then I started getting joy out of that.” He’s Proving Doctors Wrong “He does things they told us he would never even do..he rolls and now he is lifting his head up off the ground...he does things that other moms don’t get to experience, we just have a very special bond.” said Jori. Dan loves Luxton's happy personality, he said, “I love coming home and seeing him dance around me and get excited.  It’s really wonderful having him be part of our family. He just seems to have this determination to never really give up.”

Laurel and Jaron didn't receive a diagnosis for their son, Shane, until he was 4 years old. Shane is diagnosed with 18 P Deletion.  18p Deletion He Started Missing Milestones “We assumed he was like any other kid until he started missing some mile markers. We started seeking early intervention, we would ask questions at the doctor and say “so do we need to have him tested for anything?” it was always “no, at this point he’s still doing very well he’s just behind and he is receiving all of the services he’d have otherwise.” “It wasn’t until this past year that we pursued it a little bit further. We spoke to the pediatrician who said “I think the best person to have you see is Dr. Kurr she’s a neurologist and a genetic specialist.” Laurel recalls. “Shane Doesn’t Look Anything like You Guys” That’s what the doctor said when she first walked into the room. Laurel said, “All it took was a simple blood test, a microarray, that took all of 30 seconds to draw his blood.  A week later we knew that the reason for some of his funny quirks, his little characteristics that we just thought were compilation of things that make up Shane. They are also things that come as symptoms of his deletion.”  Jaron said, "I was balling and I didn’t even know why, because I already knew he had something. It was just good to finally have an answer.  I didn’t think differently of Shane. We waited four years and all of a sudden we have this diagnosis. We thought “what do we have to do, what does this mean with his life going forward?” Symptoms of 18p Having a diagnosis means that they now know what to watch for.  Shane will visit a variety of specialists annually to track his progress. Jaron provided a list of symptoms Shane has related to 18p deletion.   He said “He has strabismus, which is a lazy eye, we got that corrected when he was 2. So far that surgery has held, so he doesn’t have that anymore. He has mental delays so even though he’s five, he has a cognitive of a two year old. He has a little high blood pressure in his lungs but nothing too much to worry about. Other things that are related to this disorder can be heart problems. Do they Wish they had Known Earlier?  Laurel tell us, "I feel lucky that we didn’t know, which seems kind of strange. I think with a lot of things it would be important to know right from the get go so that you can prepare for those medical health issues that could come. But in our case, Shane’s just a healthy kid. We got to know him and love him. The only difference is we found out what it was that was helping him to be the person that he is." For Laurel and Jaron the most challenging part of Shane’s disability is his difficulty communicating. The Joy they Have Received Jaron says, “He’s just a happy kid, he just loves everybody. He’s always hugging everybody, he’ll hug strangers that he doesn't even know. You’ll just be walking in the store and he’ll just walk up and hug somebody and you’re like “he’s a hugger you know, sorry.” He brings a different kind of need to our family, it’s good for Savannah, our oldest daughter, because she’s the best big sister. She knows you got to take care of him” Sibling Dynamic They have two other children, Dallin, who is one, and  Savannah, who is seven. They've found that there’s a been a big enough age difference between Savannah and Shane that Savannah has picked up pretty quickly that although he is five, he’s not like other five-year-olds and you can’t treat him the same way. But you always say “don’t treat him any different, but also do treat him different because they are different.” He does have special needs, they have different needs than other kids, I mean everyone has special needs. It’s really cute to see Savannah as just this prime example of a big sister.” Advice for Someone who Receives the Same Diagnosis Laurel tells us, "A cute mom on our tiny little Facebook group for families of children with 18 P deletion, she came new to the group and said,

Both of their daughters were diagnosed in utero with a fatal form of Dwarfism. They chose to continue with the pregnancy, and doctors couldn't give them statistics, because everyone else they knew that received the same diagnosis chose to abort.

While looking through adoption files from an orphanage in Yerevan Armenia,   Sarah saw a picture of Maria, who has Down syndrome. Sarah told us, " I saw Maria’s face, and I had seen many other faces over the years, and they are always just so cute and you want to adopt them all, but something was very different when I saw Maria’s face. It's like God told me, "that’s your daughter, go get her!" 

There's only a handful of kids who have been diagnosed with NONO gene deletion. Doctors can't tell you what your life will be like, Morgan and Rikki can.

Having a sister with Down syndrome is difficult at times but rewarding in so many other ways. All Corinne wants for her sister, Vanessa, is to be accepted.

There were suspicions in utero that their baby would have Down syndrome, but they didn’t know for sure until he was point. After a lot of study and then ultimately meeting their son with Down syndrome, they have decided Grayson is perfect the way he was born.  

Jennifer and James have a very unique family, they have 10 children! 6 of them have been adopted and 4 or those adopted have disabilities.  They each have brought love and joy into their family.   Internationally Adopted Children with Special Needs The Unexpected Jennifer and James went to Kazakhstan to adopt their daughter.  They were unaware at the time that she has autism and other medical issues as a result of living in an orphanage.  Jennifer recalled “She ended up with Reye syndrome and came home with severe liver problems and cognitive disabilities..they did some testing and told me that she had severe autism” Both Jennifer and James were crushed by the diagnosis. However, she has exceeded expectations and is on the honor roll as a freshman in high school.  “As soon as I think we’re going to hit a ceiling, she breaks through it.” Jennifer added. Adding More After struggling with miscarriages for a few years Jennifer knew it was time to adopt and add another to their family.  Some countries have restrictions on allowing typically developing children to be adopted if there are other children in the home.  This led Jennifer and James to start adopting more children with disabilities. The moment Jennifer saw Jacob, she knew he was supposed to be in their family.  “I recognized him, I knew it was him and he had Trisomy 21, Down syndrome.” Jennifer said. Children with Special Needs have Special Abilities to Love James says children with disabilities have a unique gift to love. The amount of happiness felt not only by his wife and him, but also their other kids, has dramatically increased since they’ve adopted children with disabilities. “The light and joy that they bring us is immense,” James said, “and this is true with each one of our children. They have their own unique traits and their own unique abilities. But with those things that the world would call special needs, they come as a total package, and with those special needs have come special abilities, and that’s not just lip service. Truly special abilities that have blessed our lives more than I can begin to say.” Jennifer said, these children with special needs know what’s most important in life and really understand happiness. They naturally have many talents and capabilities that do not come so easily to others. This family knows to truly love, care for, and raise children with special abilities means to be blessed to be in the presence of angels. The Impact of Having Children with Special Needs Jennifer and James both agree that their children who have special needs have had a profound impact their immediate family as well as their extended family.  Jennifer said “they all have a very special connection with all of our children, but particularly the ones with Down syndrome..my brother was the one who said to me..‘I think that their chromosome (the extra one) is the love chromosome.’  “It’s been fun to see that they’ve not only impacted up in our immediate family but in our extended family and our community.” added Jennifer Questions when Adopting Children with Special Needs Parents who want to adopt but aren’t sure, James encourages them to look deeper. Of course the cost of adoption is high—especially from a foreign country—is expensive, but adopting a child is infinitely more valuable than any material possession anyone would spend the same amount of money on. Jennifer says she knows every child has a forever family whether it’s their own or an adoptive family.

Rebekah and Chris have Achondroplasia, a form of Dwarfism. They have 2 children, one that has Dwarfism, and one that does not. Rebekah and Chris open up about what it's like living as a little person, and how they feel now that they have a daughter with the same condition. Rebekah is a great resource to parents who receive a Dwarfism diagnosis for their child.

Having a child with Pfeiffer syndrome comes with it's challenges. You will discover, however, these kids are just like any other, they just look different.

Typical of that time era, David and his wife were encouraged to place their daughter, Sharmi, who had Down syndrome in a state institution.  They chose to keep Sharmi at home. A decision David is grateful for. Sharmi’s sister, Valerie, eventually became her guardian. Valerie recalled what a joy it was to have Sharmi in her life. Choosing to Keep Her Home Doctors paint a grim prognosis When David and his wife found out that their daughter had Down syndrome, they were told, “She’s not going to be able to walk, and she’s not going to be able to feed herself.” While giving them a grim prognosis, they encouraged them to place Sharmi in a state institution. Sharmi’s mom replied, “No, she’s my daughter; I want to take care of her.”  That is just what they did. They helped Sharmi learn basic life skills, and helped her accomplish things the doctors said she never would. Siblings help raise sister with Down syndrome Valerie is one of Sharmi’s siblings.  She loved participating in helping take care of Sharmi.  She said, “She was our baby sister, and what little girl doesn’t want to help with a baby in the family?..We all helped take care of her, and we spent a lot of our playtime, especially when we were younger, playing with Sharmi.” It was through all of this playtime that Sharmi learned how to walk.  David talks about how his children would lay on the floor and take Sharmi’s feet and walk her around the house.   Creature of habit Both David and Valerie lovingly recalled how Sharmi was very particular with the way things were done.  Valerie shared, “We would have popcorn on a Sunday night and watch ‘The Wonderful World of Disney’. If Dad hadn’t got the popcorn popper out by then to start popping popcorn, she would get the popcorn popper out; she knew the routine.” David explained that he would purposely not put the popcorn popper out.  He said, “She’d go get it out of the drawer, set it on the counter with the popcorn and stand back.  She wouldn’t speak; she’d just look at you like, ‘Come on, let’s get going.’” Moving to a group home When all of Sharmi’s siblings moved out, Sharmi became lonely.  It was at this point that they decided to place her in a group home where she could interact with other women who had developmental disabilities.   Valerie was able to visit Sharmi often and would take her home with her on the weekends.  “I was married, and my children were very accepting of Sharmi.” Valerie said. Admiration for sibling with Down syndrome Valerie recalls all the time she was able to spend with Sharmi.  She was able to learn many qualities that Valerie admires. She shared, “They are completely without guile.  They love everyone and they’re continually positive.” She continued saying, “They overlook all of your flaws, and it’s like a spirit surrounds them.  We always felt like she had an extremely positive impact on our family. I realized what a wonderful person she was and for the opportunity to have this wonderful person in your life, and to share her with your friends.” Alzheimer's and people with Down syndrome When Sharmi was 40 years old, she started showing signs that she had Alzheimer's.  Valerie said, “It was slow and progressive..I started visiting her more at the home rather than bringing her home.  She still knew who I was; she still responded when I would come.” Sharmi started having seizures.  She also had poor circulation on her feet, this caused blisters to form.  The last five years of her life, she was in a wheelchair. The side effects of her seizure medication and the brain dysfunction from Alzheimer's made it so Sharmi couldn’t interact and respond like she used to.   Valerie shared her experience when Sharmi passed away.  She said, “You didn’t want her to go, but at the same time you did, because you knew that she was suffering and could no longer participate in the world..she passed away very quietly and peacefully, which is what we wanted for her.  I don’t think you could ever go wrong when you s...

Gwen is the mother of Claire and Lola, teenagers with asparagine synthetase deficiency or ASNS.  Both Claire and Lola have microcephaly as a result of ASNS. Despite this, they have filled their family and community with love. Finding Happiness and Joy The Unexpected For Gwen and her husband, there was no cause for concern while starting their family.  They had one boy, born typically. Gwen’s tests and scans all came back normal during her second pregnancy as well.  However, when Claire was born, it was apparent something was wrong. Gwen recalls, “There was no reason to believe anything was going to happen.  I had a pretty uneventful labor, and she was born, and instantly everyone freaked out...they were pretty concerned and called in all the specialists to give her a thorough exam.” “It Happened Again” Doctors were unable to find the cause of Claire’s microcephaly and assured Gwen and her husband that there was a 25% chance of it happening again.  Confident it wouldn’t happen again, they got pregnant.  At first all of the scans came back normal.  It wasn’t until she was 22 weeks pregnant there started being concerns.  When Gwen was 26 weeks along, they confirmed microcephaly for Lola, her unborn child.  Claire had this to say about it, “I don’t know if I’ve cried as much in my whole life as I did those 24 hours after Lola was diagnosed.  It just felt so unfair to have to go through it again..we really, truly thought we had a 75% chance or greater that everything would be fine.” Choosing Life Even though her obstetrician didn’t push for termination of her pregnancy, he encouraged Gwen to look at all her options.  Gwen recalled what happened, “I just remember going back to my OB who said, ‘you guys have been through an awful lot. Look Gwen, you have options, and I’m not going to judge you guys whichever option you take, but I would encourage you to check out every option.’...and I did exactly what he said.” Gwen did her research.  She talked with people who had been through similar situations, visited websites, and read testimonials.  She said the following, “Who am I to play God? I was given this child for a reason; why am I to change this path?” She chose life! A decision to this day she would choose over and over again. Finding the Reason It had taken years to find the reason behind Claire and Lola’s microcephaly.  After sending blood into different research hospitals, they finally had a definitive answer.  Her daughters have Asparagine Synthetase Deficiency or ASNS.   Since getting a diagnosis, Gwen has created a Facebook page.  This page has helped other parents connect and find support in each other. Gwen had this to say, “It has been really neat to connect with these other families and see the similarities..How nice is it to know another family who understands what we are going through.” Sleep is Hard When asked what some of the challenges for Claire and Lola are Gwen mentioned a few things.  The first being the ability to control the girls’ seizures and the other is sleep. “I can’t say that nighttime is normal because they don’t sleep steadily.” Gwen said.  Lola requires constant supervision while sleeping. Usually there is a nurse who stays with her to help monitor her sleep and seizure activity.  “Typically Atypical”  Life with Medically Complex Children “There is nothing typical about any of my days, nor are any two days the same..the tricky part is we have PT, OT, speak technology and we have a vision therapist who comes and two teachers who come, so that’s like seven people who are trying to come Monday-Friday every single day.” “We try to squeeze stuff in for our son.  A lot of times in the evenings he’ll have basketball games or practices, or we go with him to the gym..we try to have as much normalcy for him as we can.  We’ve always tried to do that. We are a pretty close knit family; we just like spending time together.” Gwen said. “Life is Special and Perfect and Wonderful Exactly the Way it Is”

Kenai is truly one of a kind.  With only a handful of people in the world diagnosed with 7Q deletion, he is paving the way and proving doctors wrong.  His parents, Kassy and Darren, share what a joy he’s been to their family and how they are helping him grow and learn. Differently-Abled Uncertainty Even though Kenai was born five weeks early and weighed only three pounds, his parents had no reason to believe he would be anything but typical.  However, when he was less than 24 hours old, a nurse told his mom Kassy that there was something wrong with her baby.   Kassy said “..by day five of life they told us it was a deletion on the seventh chromosome, there are about 34 reported cases that are similar but not exact to his.”  Having a diagnosis so rare meant doctors had to guess what would happen next with Kenai. Google Isn’t Your Friend “They didn’t really know what he would do; if he’d smile or anything..he was so tiny when we got his diagnosis.  I googled it and all of the results were bad. All of the cases were bad and scary and it took me a while to just breathe and not try to search who he would be, and just watch him develop. That was kind of a hard hump to get over.” Diagnosis Brings Mixed Reactions from Family When Kassy and Darren told their families about Kenai’s diagnosis they received a variety of reactions.  Darren said, “My family is kind of dramatic. When we first brought the news to them a lot of them were really taken back and automatically sent things into worse case scenarios...maybe they were scared for us but we never felt that way.” “Their initial reactions would be ‘I’m so sorry’ and I just had to say ‘Don’t say sorry, we’re still excited and we still just had a baby and we still love him so much.’” recalled Kassy. Words of Advice: Don’t Use Google “Do not Google anything ever.  Don’t take your doctor's word for it because they don’t know everything, they can predict all they want but no one’s going to tell you what your baby is going to do until your baby tell you what they are capable of.  You just need to wait, it’s hard to accept but you need to trust the process and trust your journey.” This is what Kassy had to say when asked to share some advice for parents. Darren added, “Positivity is a big deal for us.  You really attract what you think about, that’s why I’ve commented so much about him being this positive entity in our home.  There’s a lot of positive stuff that can come from this, I would just say concentrate and focus 100% on all of the positive things and build off that.”

Piper is a vivacious little girl with spina bifida.  She surpassed the doctors’ expectations even before she was born in an in utero surgery.   High-Risk Surgery Before She Was Born “I Had a Feeling that Something Wasn’t Right” During her 16 week ultrasound, Nicole noticed the technician acting cautious.  She said, “During the ultrasound, the technician was asking me a lot of questions about my health.  It seemed like she was taking a lot of pictures of the fetus..she said ‘you need to need with the doctor.  She needs to go over your results.’ My mind just immediately went to the worst situation that something wasn’t right.” The doctor then informed Nicole that her daughter had Spina Bifida.  He discussed a few options of what to do next but ultimately referred Nicole to a perinatologist. Three Options Presented at Diagnosis When Nicole met with the perinatologist, a special high-risk OBGYN, he discussed three options for Nicole and her unborn daughter.  She recalls, “when I met with the perinatologist, he said, “there are your options: you can abort the fetus, you can see if you qualify for in utero surgery, or you could do surgery after the baby is born.’’  Not really knowing what an in utero surgery entailed, Nicole further researched it.  She said, “It was something very hard for me to wrap my brain around, having surgery while you’re pregnant and then staying pregnant...I thought about that and talked with family members and friends, trying to get any information from anyone who had heard about this and I look it up online, Googling it.” After talking with a nurse and getting many questions answered, Nicole made the brave decision to have the in utero surgery.   The Results of Having Surgery While Pregnant Having such a high risk surgery, there were only three hospitals in the country that offered in utero surgery.  “The results were better than I’d hoped for..she had a reversal in her brain malformation. She has surpassed all of her doctors’ expectations.  Regarding her mobility, we were told best-case scenario was that she would use a walker or braces to walk for the rest of her life, and not she’s running and walking without any assistive devices.” Even though Piper has excelled because of the surgery, Nicole experienced some complications after.  “Surgery went well, but the healing afterwards did not. I was in the hospital for about six weeks until she was born in an emergency c-section.”  Nicole stated. The Challenges of Finding a New Norm Nicole described finding a new norm was part of the challenges she now faces.  She explained, “It has been difficult accepting that our norm is different. It has been difficult to not wish it were different for us.  It’s difficult knowing that we will be different from her peers and from her siblings, and that she will have challenges that other kids won’t.  It’s difficult knowing that I can’t control a lot of that..I want to teach her to embrace who she is and embrace her strengths.” Dating Someone Who has a Child with a Disability Nicole was lucky to find Adam when Piper was three years old.  Adam had this to say about Piper, “She’s just so easy to fall in love with; she has such a personality. It wasn’t really difficult.  If you understand the expectations, there is so much upside to it.” Adam's other children were nothing but welcoming to Piper and Nicole.  Adam explained the impact having Piper in their family has had on his biological children, “It’s like the light.  That’s the only thing they talk about...when they are at their mom’s house, they talk about Piper all the time. It’s remarkable the impact that one person can have.” “Her Quality of Life is Going to be Just as Great.” The decision to choose life can be difficult when filled with uncertainty.  Nicole said, “I would say to seek as much information as you can..I thought that from what I’ve been told and from what I’ve learned about Spina Bifida, her quality of life is going to be just as great.

Auni lived a short life due to Spinal Muscular Atrophy. Despite this, she made a lasting impact on her parents and all who knew her.

Christie and her husband built their family by adopting special needs children, 26 of them to be exact. Special needs children bring such joy into a home.

Alie and Tyler have an extremely unique family.  They have three children, all who have different disabilities.  Jack has Asperger’s, Amelia was diagnosed with anencephaly and died two days after she was born, and Owen has albinism and is legally blind.   Becoming Flexible Amelia Alie and Tyler received their first diagnosis when Alie was pregnant with their second child.  Alie was 20 weeks pregnant and was told their baby had Anencephaly. Alie recalled, “They wanted to make sure that we knew at that appointment that our baby had no chance of survival. I remember the doctor look at us and saying, ‘Would you like to terminate the pregnancy?’ As he was saying that, I could feel her kicking inside of me and I thought, ‘No way, this is our child.’..That night we went home and became crazy google people and learned everything that we could about Anencephaly.  It was hard; it was really really hard.” Anencephaly is when there is a neural tube brain defect which causes the brain not to form much above the brainstem.  Choosing Organ Donation After Your Baby Dies Even though Alie and Tyler knew Amelia would die at birth or shortly afterwards, they made the brave decision to carry her to term and have her be an organ donor. Tyler said, “People though we were crazy and that maybe it would be a waste of time, but we kept trying, knowing that in one way in which Amelia’s life could have some purpose for everybody.” There are a several rules and guidelines set into place regarding Amelia’s organ donation.  One of which was that Amelia needed to live an optimal number of hours after birth. Amelia surpassed that number and therefore only her heart valves were able to be used for donation.   Alie said, “Throughout all of this, we knew we could help other babies, and we didn't get that it was heartbreaking.  That was hard to deal with, being in the hospital with her and wishing she could die earlier so that we could help these other babies.” Amelia ended up being able to go home where she lived for another 12 hours.  In total she lived for two-and-a-half days. Much longer than doctors anticipated. Giving herself a chance to truly become part of the family. Owen Two years after Amelia had passed away, Alie and Tyler welcomed Owen into their family. Alie recalled, “I don’t know if you ever feel ready for another pregnancy after you’ve buried your baby.  I was just really scared, and it was really hard on me..I knew deep down that something wasn’t right and started pestering the doctors, trying to get an appointment and kept getting pushed off. I kept insisting that something was going on.” Alie was right.  After finally getting an appointment with an opthamologist, Owen was diagnosed with nystagmus, strabismus and albinism.   Owen’s eyes would rapidly wiggle back and forth.  When he was around two years old, he received surgery to correct the nystagmus.  A simple procedure that Alie and Tyler said has made all the difference along with glasses for Owen. Jack Alie and Tyler are no strangers to having children with disabilities.  Their oldest Jack wasn’t diagnosed until he was a little bit older. Alie described that experience as, “When Jack was around one-and-a-half to two-years old, we started seeing some differences in him. He was evaluated for speech, so we did speech for maybe three to four years...he taught himself to read, but we notices his interactions with his peers were different.  He struggles a little bit socially, and we finally got the diagnosis of Asperger’s” “By that time, we thought, ‘okay, third time around, we can handle this’ but it’s troubling for us that this was under our noses the whole time.  It made it a little harder emotionally..we felt like we missed something that we could have helped him earlier.” Tyler said. He continued by saying, “We didn’t get that diagnosis just so that we could apply a label to him; we got that diagnosis so that we could learn how to help him.” “Sometimes We Have to be Flexible”