, ,

Spinal Muscular Atrophy (SMA): 

Medical breakthroughs create better lives

What is SMA?

Spinal muscular atrophy (SMA) is a genetic disease that affects the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). A majority of nerve cells that control muscles are located in the spinal cord. SMA  primarily affects muscles, because they don’t receive signals from specific nerve cells, called motor neurons. When muscles aren’t stimulated by nerve cells, they get smaller or atrophy.  Because SMA involves the loss of nerve cells called motor neurons in the spinal cord, it is classified as a motor neuron disease.

Degree of motor function decrease is roughly correlated to the age at which SMA symptoms start. Generally, kids who have symptoms at birth or in infancy usually have the lowest level of functioning (type 1). As a rule, later-onset SMA with a less severe course (types 2 and 3, and in teens or adults, type 4) corresponds with progressively higher levels of motor function.

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neurons”, which appears necessary for normal motor neuron function. SMN has a crucial role for gene expression in motor neurons. 

What are the symptoms of SMA?

The scope of SMA symptoms are broad, and symptoms range from mild to severe. Typically the “proximal” muscles (closer to the center of the body) are the most affected in the body.  SMN-related SMA presents with weakness of the voluntary muscles as a primary symptom and often include shoulders, hips, thighs, and upper back. Lower limbs seem to be more than upper limbs, and there is a decrease in deep tendon reflexes.  If the muscles used for breathing or swallowing are impacted, there may be complications with those functions.  Similarly, back muscles weakening may result in development of spinal curvatures.

What huge treatment advances now exist?

Recently, there have been exciting treatments for various types of SMA that have been complete game changers for individuals who have the disease. Current research strategies have focused on increasing the body’s production of the SMN protein that’s lacking in the chromosome 5-related forms of SMA. Methods include approaches to increase motor neuron survival in adverse circumstances.

The Food and Drug Administration (FDA) approved Spinraza (nusinersen) for the treatment of SMA, on Dec. 23, 2016. Spinraza is designed to treat the underlying defect in SMA, meaning it potentially might be effective at slowing, stopping, or possibly reversing the symptoms of SMA.

In May 2019, the FDA approved Zolgensma (onasemnogene abeparvovac-xioi), which represents the first gene-replacement therapy for a neuromuscular disease. Zolgensma is a one-time intravenous infusion, and is used to treat pediatric patients younger than 2 years of age with SMA, who exhibit bi-allelic mutations in the SMN1 gene. This includes those who are presymptomatic at diagnosis. Read more information at: FDA Approves AveXis’ Zolgensma for Treatment of Spinal Muscular Atrophy in Pediatric Patients.

Additionally, the FDA approved risdiplam (brand name Evrysdi) in August 2020, for the treatment of SMA in adults and children two months of age or older. It is an oral medication that functions to raise SMN protein levels, by boosting production from the SMN2 “backup” gene.

Where can I read more on SMA?

For a detailed and simple-to understand overview of SMA, visit the Muscular Dystrophy Association website for the SMA fact sheet at:

https://www.mda.org/sites/default/files/2020/11/MDA_SMA_Fact_Sheet_Nov_2020.pdf

What’s it like to live with SMA?

Currently, one of the best known people with SMA is Shane Burcaw.  Shane has been affected by SMA most of his life, yet it doesn’t define him fully or keep him from living a productive life as a disability advocate, speaker and author.  Together with his wife, Hannah, they run a popular YouTube channel ,“Squirmy and Grubs” and  share their relationship story with the world, with the hope to change the way society thinks about disability.

The link below is a video on the channel where Shane talks about his diagnosis and early life. It also showcases the amazing relationship he and his wife share.

References:

  1. https://www.mda.org/disease/spinal-muscular-atrophy
  2. https://www.squirmyandgrubs.com/more-about-squirmy-and-grubs

/0 Comments/by
, , , , ,

Mom ALWAYS knows best:

Trusting Your GUT when your child is ill

What happens when your child is ill?

Have you ever thought you were going crazy when it came to your kids? Sure, we all get stressed out by the demands parenting requires of us whether they be mundane, daily happenings (“No you can’t have another cookie!”, “Stop teasing your brother!”) or extreme, unlikely circumstances (Hello pandemic-looking at you!)

But, what if there was something wrong with your child, (who also happens to have neurodevelopmental delays or another neurodivergent diagnosis)  and no experts had any answers for you? What if you took your kiddo to all the “BEST” doctors out there and they either had no answers, their diagnosis conflicted with one another, or worst of all, they just didn’t believe your child had a problem?

Mom gives daughter medicine

Misdiagnosis happens.

I am here to tell you that it happens.  And when it is your child who is struggling and suffering, it is exquisitely painful. You feel like you are living in a nightmare that you simply cannot wake from and that somehow, those around you are seeing a distorted view of reality.  A 2019 article* states that, “the mindset that young children are rarely seriously ill is one of the main reasons that they are more likely to be misdiagnosed than adults are. That’s on top of all of the ways that approximately 10 percent of American adults are misdiagnosed every year. When doctors and nurses expect to see a healthy child with a common short-lived illness, they may miss the uncommon ones.”  

The article goes on to list the main reasons for children receiving a diagnosis that’s wrong or delayed:

  1. Attitude: Since most children are healthy, and most illnesses resolve on their own, doctors may tend to reassure parents rather than accept concerns are real
  2. Biology: Young children’s bodies and systems are radically different than adults, so they present and respond in unexpected ways
  3. Unequipped: Most children’s emergency room visits are to community or adult hospitals that often don’t have needed kid-sized equipment or pediatric experts. Urgent care centers have similar issues.
  4. Communication: Young children don’t understand or know what is wrong so they’re dependent on parents or caregivers to recognize and then interpret their symptoms

Experts may give you the brush off.

However, there are cases where a parent’s concerns are dismissed, as I was when my daughter presented with a long, puzzling, seemingly unrelated laundry list of symptoms that spanned years, nearly a decade by the time a diagnosis was finally rendered.  During that time period, I was given advice from some well-meaning individuals who said things like:

  • “Just accept her as she is and stop looking for answers that aren’t there.”
  • “Doctors are the experts and you have to trust them when they tell you something, even when treatments don’t work or something seems to be missing in their answer.”
  • “You want her to be sick so that you get attention or sympathy”
lab test machine

Did any of this help my daughter get better or me find answers? That would be a resounding no.  Oh, and by the way, that last piece of “advice” above was given to me, in front of my child, by a supposedly well-respected doctor. He dismissed all the hundreds of pages of tests, scans, medical records and prior diagnosis, didn’t help my daughter, and charged for it!

So what DO YOU DO?  You don’t give up- you trust your gut! Parents know their children best and what their “normal” looks like, even if it doesn’t match the textbook image. Remember to believe in yourself and your ability to help your child. Make a bulleted list of every symptom, even if it does not seem totally related, and the date the symptom started. Research the heck out of your child’s symptoms and any test results you have, using the best and most trusted resources you can find.  Become well acquainted with clinical research papers, societies for various branches of disease types ( think brain, stomach, nervous system, etc.)  Join an online group for other parents who may be seeking answers for their child or who may have information to share.

The Society to Improve Diagnosis in Medicine says not to get overwhelmed by the risks of misdiagnosis. Rather, recognize there are a few key things to do, to assist in getting an accurate and (hopefully) prompt diagnosis. These tips also help if your child is in the middle of a diagnostic journey today.

  1. Sign up for the doctors’ or hospitals’ patient portal and check the records thoroughly. “Is the information correct? Are the medications and medical history correct? Read it, correct it, and tell the doctor” or the staff.
  2. Important test results can slip through the cracks and that may lead to misdiagnosis and lack of treatment. Keep track of any tests that are done on your child. That includes blood tests, urine tests, x-rays, and any other type of scan. If your child has a test, simply ask when the results are expected and note it in your calendar. If you don’t get called or emailed with results, call and ask about them. Remember, “No News is No News.” Don’t accept being told, “We will call you if there’s a problem.”
  3. Trust your gut. You’re the people who know and care about your child the most. All of the experts encourage parents to speak up if they feel their child’s symptoms aren’t getting enough attention or if there’s any confusion between what the family is saying and the medical professional is hearing.
  4. If your child isn’t showing signs of improvement, get a second opinion. Ask friends and family members in town for a recommendation of a pediatrician in a different practice, or ask your current pediatrician for a specialist to give a second opinion.
  5. Be prepared before you bring your child to the doctor or an emergency room. While your child is healthy, check if there’s a pediatric urgent care or emergency room close to where you live. If you have a planned appointment, there is a valuable tool you can start using today. The SIDM Patient Toolkit is a handy step-by-step workbook with sections to fill out before, during and after your doctor’s appointment.
  6. If you’re using the internet to look for more information, be sure to use reliable and trusted sources. The American Academy of Pediatrics’ (AAP) Healthy Children section is a great place to begin. 

In closing, you, as a parent, are the most trusted authority on your child.  If you feel that something is wrong with your child and it is not getting resolved, don’t be afraid to speak up.  Your child and your family deserve answers and the best possible care.  Be brave and know that what your GUT is telling you, may be right. (If you have a question for Melanie (author/Kid PT Marketing) email her at info@kidpt.com)

*References

https://www.improvediagnosis.org/dxiq-column/why-your-child-is-more-likely-to-be-misdiagnosed-than-you-are/

/0 Comments/by
, , , , , ,

Top 7 Reasons to Supercharge Your Child’s Physical Therapy with the Spider Cage

There are so many reasons why the Spider Cage is a powerful therapeutic tool to integrate into your child’s physical therapy program. If you worry about your child not having all possible opportunities to develop new movement skills, you should try out the Spider Cage during a trial session at our office to see firsthand what your child can do!

Why is the Spider Cage so powerful? Let’s look at 7 reasons that the Spider Cage gives children access to developing new skills and abilities, by supporting them to increase strength, balance, motor control, endurance and sensory processing, all while having sooooo much fun. Remember, fun is really important when it comes to children- if they’re having fun, then they’re LEARNING! Let’s get into those 7 reasons now.

  1. Exploration of New Skills

The Spider Cage is setup where the child wears a belt and the bungees connect to the belt. There are 8 bungees that can be attached to the belt with 2 on each corner.The child can be sitting, on hands and knees, standing, walking on a treadmill or moving between positions. The bungees in the Spider Cage provide support, but they’re also dynamic, so it is a different experience for a child that has been in a stander or a gait trainer. It is also different than having a parent or therapist helping. The child can try out new skills with just enough assist, but they are initiating the movement and responding to what worked and what didn’t work to learn from the experience.

In the video below, you can see the boy practicing standing up by himself without using his hands, which he can’t do outside of the Spider Cage. Over time the bungees can be lowered or only 4 bungees can be used to build more independence, which can then generalize to outside of the Spider Cage.

2. Confidence Building

Many children with movement delays or disabilities develop a learned helplessness from frequently experiencing things being difficult or impossible. Learned helplessness is when you have learned that you can’t do something, so you stop trying. It is an understandable reaction, but one we have to mindful of when guiding children to develop new skills and abilities. The Spider Cage is a fantastic tool for children to experience that they are capable of doing, with just the right support. This can be basic gross motor skills like sitting, standing and walking, or it can be more advanced skills, like hopping and balancing on dynamic surfaces.

The boy in the video initially needed hands on help to perform this motion. He didn’t try to initiate it on his own and needed help to complete the motion. After several times in the Spider Cage, he learned how to transition from hands and knees to standing with the help of the bungees alone. He was so proud of himself and this transferred to him helping more with transitions off the floor outside of the Spider Cage.

3. Safety to Try Higher Level Balance Skills

Children will limit attempts at new skills if they know their body isn’t going to be able to do it reliably and safely. Knowing they can’t fall, the Spider Cage gives the opportunity to try all sorts of challenging balance tasks without the risk of falling and hurting yourself. This way, the kids can work on those advanced skills, flood their brains with novelty and develop more advanced movement control.

In the video below, she challenges herself to move from standing to half kneel while standing on a bolster that rolls side to side. What a challenging task! This would be a risky thing to try holding maybe a trapeze overhead and would have allowed her to rely mostly on her arms, instead of her hips. Doing this activity in the Spider Cage let her work on a high level of hip and balance control and no rely on her arms for help.

4. Sensational Sensations

As we said before, the Spider Cage is a DYNAMIC place to be! The bungees provide resistance and assist to movement, giving intense proprioceptive/deep pressure input to the children’s bodies. All of the movement is very stimulating to the vestibular system in the inner ear as well. The Spider Cage is a great place to put together the postural system with the eyes, vestibular (inner ear), and proprioceptive (information from joints and muscles) to work on improving body awareness and regulation skills.

In this video you will see a boy doing intense jumping, having a BLAST, and regulating his system to do focussed work afterwards!

5. Hands Free Movement

Children who use crutches or walkers for mobility are always using their hands to help manage the rest of their bodies. The problem is that they then become limited in using their hands for other activities, such as carrying something, and they rely on using their arms to initiate movement, rather than using the pelvis, the cornerstone and powerhouse of our bodies.

In this video you’ll se a boy playing basketball where he typically needs a person to help or his hands on an assistive device to be able to do an activity like this.

6. Speed & Power

The Spider Cage gives the support a child needs to be able to work on moving at increased speeds than they could do outside of the cage. It also lets them work on their power with jumping and leaping. The dynamic assist on the bungees give greater access to new skills while decreasing risk of falls at the same time. This allows motor control, strength and endurance to build to support the use of increased power and speed outside of the cage in the future.

In this video, the boy walks 2mph, when he usually walks at a slow pace with crutches, he’s able to explore increased speed. You can see how proud he is at his acomplishment!

7. Play

Play is how babies and children learn! Play in the Spider Cage gives access to children with a limited play repertoire to develop more advanced play skills. Children can jump, kick a ball, throw a ball, and knock down towers. There are so many games children with limited play skills can try out in the Spider Cage!

In the first video below, the boy initially needed assistance from the therapist to stop on the target. With practice he was doing it all on his own and laughing so hard each time!

In the second video, we used the Spider Cage in a completely different way to make a ninja obstacle course with the bungees! The boy is working on his midrange postural control to move over and under while trying not to touch the bungees.

In the 3rd video the boy is playing t-ball! He has the opportunity to be hands free using the support of the bungees to play the game!

Blast off!!!
The ninja avoids the obstacles at all cost!!!
Baseball time!!!
Every kid deserves to knock over their therapist once in a while!!!

/0 Comments/by
, , , , ,

Arts for All!

Participation in the arts are a way for someone to express themselves. It creates a window into the soul and an escape all in one. Some turn to painting, drawing, music, drama, or dancing to find their sense of self or to relieve stress after a long day, and this is no different for kids and adults with Cerebral Palsy (CP). Taking part in the arts is a wonderful thing for children with CP to do, no matter their level of disability, and here’s why!


Self Expression Without Limits

The arts allow for a place to explore what you are thinking or feeling. Whether you are verbal or non-verbal, participation in an art form is a way to get your feelings out! Society often tries to put us in boxes that may make us feel limited. But when you are creating art, you get to make the rules. Bend the rules to work for you

Adaptability

With the free form nature of many arts programs there are no rules that have to be adjusted to make it work for your body. If your dancing includes, moving your head side to side to make your wheelchair turn to the right and the left, do it! If you need something to secure a paint brush to one of your hands or to your head to paint your beautiful picture, why not! It’s your masterpiece, so the environment can be set up to make creating your art that much easier.

Community OR Solitary Art

Many arts are performed in a group setting for those who love being social, like Drama. You can find your Drama, Dance, or Visual Arts community if that floats your boat. BUT the cool thing about the arts is many forms don’t have to be done in a group, they can be done alone too if you’d prefer to work that way.

Confidence Booster

For many kids and adults, taking part in the creation of something beautiful, or something they made themselves, is a huge confidence booster. When the right adaptations are in place to support each child or adult, either with motor or intellectual considerations, the child can make something by themselves (or with a little bit of teamwork if needed) and feel proud of themselves for doing so!

Types of Art

Visual Arts

  • Visual arts include painting, drawing, sculpture and photography, are likely to be the most common of all arts programs designed for people with disabilities.
  • The visual arts are easily modified. A child’s pointer finger, pencils, and brushes can all be adapted to fit their needs by instructors or parents. The most common forms of modifications are handles and grips on paint brushes, pencils and pens; easels that can be attached to a wheelchair or placed on a table. There are even attachments designed for the head in which the artist can manipulate the brush, just as is used on a pointer for the computer.
  • Photography can also be modified to meet various physical needs. Cameras can be attached to wheelchairs so they can remain stable while a person is shooting a photo. It might require some creative thinking, but if the photographer cannot use their fingers, cameras can be placed in such a way that a student can use their tongue to release the shutter.

Dance

  • When many people think of dance, they picture the ballerina trope, but that’s not all dance is, in fact, there are so many styles of dance! This includes modern, ballet, tap, and jazz. In the past years, dance has become so much more freeform than people think. With the dawn of modern dance and creative movement, movement can be whatever you want! The creation of movement is often left up to the dancer OR to the choreographer
  • Movement can be created in many ways. Students in wheelchairs can be pushed by a fellow dancer while they dance in their chair or other times can push themselves in a pattern as part of the choreography. Students can use their crutches or walkers to move, participate in floor mobility, and show off their specific mobility strengths. Choreographers can play into this as well, creating routines that maximize each dancer’s strengths.
  • As Dance is very aerobic, it also provides an outlet to work on mobility, strength, and develop flexibility. It can help those moving to stay fit and healthy. It can also help children with CP work on coordination and balance!

Drama

  • Theater programs for disabled actors provide opportunities to show off their talent. Often, modifications are made to shows that make the performance accessible to actors with disabilities. There are troupes of performers with disabilities as well as productions who participate in inclusive casting. 
  • Theater is often all about building community and putting yourself out there, and for many regardless of mobility status, gives actors the chance to put on a second skin. When you are acting as another person, you get to leave your own troubles behind and step into that person’s life and mind for a few hours. This can be a great escape for anyone, including children and adults with a disability.

Music

  • Music is another way that children and adults with CP can creatively express themselves and can be a great stress reliever. Music, like the other artistic forms discussed above, can be followed, but it can also be created! A child with CP can participate in a piece of music though percussive instruments, can learn to strum the strings of a guitar, and others too. 
  • Music therapy is a great outlet to explore as it not only allows for creative expression but also works on rhythm and timing, social skills, language, and mobility!

But where is there to go in NJ for my child with CP to participate in the arts? Check out these links to find out more!

Dance:

http://kayelynndance.com/chance-to-dance/

http://www.danceinnovations.org/dipf

http://kayelynndance.com/chance-to-dance/

http://www.danceinnovations.org/dipf

Theater:

https://papermill.org/access-for-all

Art: 

https://www.tasoc.org/

Music:

https://www.theconnectiononline.org/com

https://jamminjenn.com

References:

https://www.cerebralpalsy.org/information/activities/arts

https://www.cerebral-palsy-faq.org/art-exhibit-highlights-skills-of-children-with-cerebral-palsy.html#:~:text=Art%20therapy%20stimulates%20expression%20and,intelligibility%20due%20to%20cerebral%20palsy.

/0 Comments/by

Muscular Dystrophy and The Role of Physical Therapist

Most children who come to physical therapy require strengthening to be a core component to their rehabilitation.  It is critically important for both therapists and families to understand the difference in the rehabilitation approach for children with muscular dystrophy. Read more

/0 Comments/by

Happy 20th Birthday Anthony!

Anthony DeVergillo is a young man who writes a blog called “The Optimist’s Guide to Life”, “spreading optimism one smile at a time”. On his blog he talks about optimism and living with disability. Anthony has Duchenne Muscular Dystrophy and his writings will inspire, teach and guide you to reflect on your own life experience. While his blog is filled with incredible poetry, music and guest posts, the following are a “greatest hits” of posts that I believe will be helpful the readers of this blog. Read more

/0 Comments/by
, , , , , ,

What is Pediatric Physical Therapy?

Pediatric Physical Therapy In Action

“My son can’t keep up with his twin.”

“My daughter is always tripping and gets frustrated.”

“We finally got answers as to why my child is delayed, but now what?”

Do these concerns sound familiar to you? Have you been worried about your child and wondering where you might find answers and help?  If so, you’ve come to the right place! Let’s start by answering the question-

What is a Pediatric Physical Therapist and Who Do They Help? 

Pediatric Physical therapists (PTs) are licensed health professionals who have specialized knowledge and experience in the unique aspects of working with children and their families to improve motor development, independence, fitness and active participation in the family and in the community. Pediatric PTs work with children from birth through adolescence and participate on teams with other specialists, including physicians, occupational therapists and speech therapists.

They work with children to improve their brain-body connection, balance, strength, body awareness, coordination, and movement skills from crawling and walking to jumping and hopping. Pediatric physical therapists work with children to improve their sensory awareness and motor abilities. Improvement these skills can have a far ranging impact on the child beyond the movement itself, such as improving confidence, success in school, and social interaction.

Pediatric physical therapy often looks like play, but that is part of the magic! Pediatric physical therapists know how to engage the child with fun, share the joy of movement and combine that with the science of the brain and body. All these pieces come together to stimulate to new skills that the child can use in daily life at home, at school and in the community. New skills means new confidence and new success!

Read more
/0 Comments/by