Finding out your daughter has Down syndrome

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

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

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

Ongoing medical issues

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

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

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

How their other children have been affected

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

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

The joys of a Down syndrome diagnosis 

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

Advice for a parent with a Down syndrome diagnosis

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

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

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

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Menkes syndrome: Daniel’s Story

What is Menkes disease?

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

Finding out your son has Menkes disease

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

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

Dealing with a terminal diagnosis

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

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

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

Taking care of someone with Menkes disease

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

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

Impact of having a child with Menkes disease

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

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

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SHINE syndrome: Brittney and Derik’s Story

What is SHINE syndrome?

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

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

Early signs of SHINE

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

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

SHINE syndrome is a spectrum disorder

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

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

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

Getting SHINE diagnosed

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

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

 The joys of SHINE syndrome

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

Advice for parents of children with SHINE syndrome

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

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

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

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

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My life is ruined

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

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

Proving the naysayers wrong

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

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

Fighting the school system

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

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

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

It would take too long to talk about the joys

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

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

Finding a great man

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

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

Writing a book from life experiences

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

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

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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.”

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TRAK

Inspiration for a new program 

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

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

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

Getting the program started

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

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

Open program

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

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

Worth the drive

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

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

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

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

Mental health help

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

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

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

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

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

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

Getting an ASD diagnosis

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

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

Being labeled as ASD was the fear

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

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

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

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

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

Loving your child for who they are

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

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

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

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Pfeiffer Syndrome: Hadley

Something Was Wrong

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

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

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

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

Unwanted Comments

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

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

Surrounded by Love and Support

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

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

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

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

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Special thanks to Lacey and the Roots Therapy team for giving their time for this interview! They have a lot more to offer than what was given in this interview. If you want to know more about Roots Therapy and the services they offer, you can find that information and much more on their website.

Before Your First Appointment

Before your occupational therapist (OT) even meets with you and your child, there generally will be a questionnaire that is sent home. Lacey, an occupational therapist shared what items parents can expect from the questionnaire. 

She explained how these forms give them some background information on medical history, strengths and weaknesses, etc. in order to better understand what area of focus would benefit the child most in therapy. This questionnaire can also help the OT know if any further assessments would be needed during that first visit.

What to Expect During Your First OT Appointment

Most of this appointment is used for further assessments the OT might need to do. They will also use this time to get to know you and your child better. “We gather other information from them about play preferences, what they do gross-motor wise, big play activities and what they do with their hands and balance,” Lacey added.

For parents, the most helpful thing you can do is come prepared. Lacey expanded on that notion by stating, “I would just come with all your questions. Think of your child holistically; their motor skills, emotional regulation skills, your observations, and questions and concerns in that area.”

What is Expected as a Parent at OT Appointments?

Lacey recommends that parents be involved as much as their schedules allow. By being present at the appointments, parents can gain information about activities they can try at home. Lacey understands there are limits to what an OT experiences with a child, “We are with them one hour a week, but parents are with them usually all of that other time.”

She continues saying, “We love it when parents can come, but we understand it’s not always possible with schedules. So, if parents need to drop their kids off and touch base when they pick them up, we work with that as well.”

The most important thing to understand as parents is this experience requires patience. “For any family it almost never happens where a kid comes to a few sessions and magically all of the things they needed to work on have improved,” Lacey said. OT takes time, months of consistently going and putting in the work to see slow and steady progress. She reminds parents that they are not alone and the therapy is family centered. Lacey emphasized, “It’s a marathon, not a sprint.”

Finding An OT That Fits Your Child

Lacey shared that while all OT’s are qualified to work with kids in general categories, specific skill sets require a therapist who will match your needs. She said, “There are some areas that people (OT’s) can have additional training in…if there are extra needs beyond motor, sensory, emotional regulations, or social skills you can look into more specific therapies.” For example, Lacey is trained in SOS (Sequential Oral Sensory) feedings, but there are also several other areas that need a little extra training like splinting and orthotics.

Finding the best occupational therapist to fit your child’s needs is one way to help them navigate their lives. At the end of the day, you are the parent and know your child best. It may seem daunting at first, but there are many people out there who know how to help.

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