Thank you, Daddy from your son, with special needs

My son is 10, he is non-verbal and has profound and multiple learning difficulties. He can’t wish his Dad a Happy Father’s Day but I think this is what he’d say if he could…

Dear Dad,

I love that I’m the first person you speak to when you get home from work at night. You always ask me if I’ve had a good day at school and check with mum that I have been in good form.

I love that you include me in all the games you play with my brother, even if I can’t really do them. I don’t mind if the ball hits my head or my chair when we’re playing football because at least I’m there with you.

I love that you bought me a Liverpool kit just like my brother, although I’m sorry that I like to chew it.

I love shower time with you because you make it so much fun. Mum is always in a bit of a rush but you blow bubbles and tickle me and take a bit longer because you know how much I love the water.

I know it makes you sad that you can’t come to all my appointments but it’s OK because I know you are working hard for our family.

I know you get annoyed when people stare at me or say rude things but don’t worry, I’m never upset because I know you’ll always keep me safe.

Thank you for always being able to make me laugh with your funny noises.

Thank you for sitting with me at night when I have a sore tummy, I love snuggling in to you for cuddles. You always make me feel better.

Thank you for all the fab times we have together.

I know it’s getting hard but I love that you carry me over rocks so I can dip my toes in the water or carry me up sand dunes so I can see the view too.

I love that you’re my Dad.

Thank you for being you, you’re the best!

Your son xx

Review: Flying with the GoTo Seat

Review by Sophie Biddlecombe from the 4 Suitcases and a Wheelchair blog

As a family, we travelled to Italy last summer and booked our flights through EasyJet. This was our first flight with our daughter Millie, who has Quadriplegic Cerebral Palsy.

Initially, we thought we would need to take Millie’s big, bulky car seat on board the flight to enable her to travel.

After speaking to EasyJet’s Special Assistance however, we learned that they were happy for the GoTo seat to be used on the aircraft.

Now with the knowledge we could use Millie’s GoTo seat on board our flight, it suddenly made the whole experience feel less daunting and all the more accessible to us.

It certainly put our minds at rest that she would be secured safely and she would be comfortable in her own seat.

We now no longer faced the headache of trying to figure out how her car seat was going to fit.

EasyJet were not only very happy for us to use the GoTo seat, but they were also happy for us to take anything Millie needed to make our journey as comfortable as possible.

The GoTo seat is so light, once we had checked in we could easily rest the seat on the back of Millie’s wheelchair, to transport it to the aircraft.

We used an Ambulift to get us to the aircraft door where we left Millie’s wheelchair behind.

Needing to carry Millie and all our hand luggage, we were also easily able to manage the GoTo seat as, being so light it was easy to pop on to an arm, leaving a hand free for a bag!

Fixing the GoTo seat on Millie’s aircraft seat was so easy, it was really no different to attaching it to any other chair and believe me, we have tried chairs of all shapes and sizes!

The cabin crew were on hand to help us guide the straps through the seat and around the tray table behind.

Millie has low tone in her trunk, so her posture is not completely perfect in her GoTo seat but she loves her seat and was happy being in the familiarity of her own seat, whilst embarking on her brand new air travel adventure!

The GoTo seat enabled Millie to access and have a very normal family experience.

On our two-hour flight, Millie enjoyed peeking out the windows watching the clouds float by, munch away on snacks and watch her favourite television programmes on her tablet, just like her big brother, and any other three-year-old for that matter!

Flying to Italy was our first experience using the GoTo seat on board an aircraft but over the past two years, we have used the GoTo seat in everyday life.

In shopping trollies (if our much loved GoTo Shop trolley is not available), on swings, Go-carts, Little Tikes cars, trikes, and of course chairs of all shapes and sizes.

With the floor sitter attachment, Millie is often found in her GoTo seat in her bedroom playing, at friend’s houses, in the park for picnics, on the beach, on a tractor-trailer ride… you name it she has pretty much been there and done it!

It is also crucial equipment for everyday tasks such as hair drying!

The GoTo seat is so useful and keeps Millie as involved in everything as possible, we wouldn’t want to be without ours and can’t wait to take it on more travelling adventures.

You’re The Expert

Most of the heart felt posts that I have read over the years are from parents of children who have some type of condition.  The brutal honesty of the posts is so refreshing, and I believe them to be cathartic.

I’m not writing to validate those thoughts or feelings.

I’m a pediatric physical therapist of 25 (plus) years, but I’m also the sibling of an adult with special needs.  I’ve experienced all that you’re feeling from different perspectives.

My parents are gone, so I am now the caretaker for my sister.  From the other side, I have had the privilege of working with families like yours each day, for over 25 years, hoping to make a small difference in your life and that of your child, with the dream of changing their future by starting at ground zero.

I’m the first therapist, the first set of hands that your child will learn to trust.  I’m the one who will point out the little changes I see in your child even though they still can’t lift their head or walk.  I clearly take my job very seriously, but I LOVE WHAT I DO, as most pediatric physical therapist do.

I’m always in awe of the bravery, empathy, maturity, beauty and innocence of the children with whom I work.

However, I am writing to share some thoughts about your child from another perspective:

Learning starts on day one.  Make sure that your child is an active learner.  They may only be able to put out 10% with 90% assist but, always remember that ‘neurons that fire together are wired together’, and this can only help with communication, learning and motor.

Everything that you see and report to your doctors and therapists means something.

A twitch, moving one side more than the other, constipation…EVERYTHING!!  It may contribute to intervention, or may help pinpoint a diagnosis. Those holy 20 minutes that you get a sit down with your specialists may not be your child’s best, or may not be exhaustive enough to discuss all of your concerns. Come prepared.

Check with your insurance benefits before making any high-ticket purchases, including orthotics, braces, adaptive seating and equipment.  Just because theoretically something should work, it doesn’t always work, first see how the device benefits your child, and always ask about the return policy.

There may be years of opportunities in the future to participate in a variety of therapeutic interventions.

There’s PT/OT/SLP/equine therapy, swimming therapy, craniosacral therapy, massage, exergaming…. make sure that you seek out services based on your child’s needs, availability to participate, desire to participate, level of enjoyment, chemistry with the provider, and appropriateness for their age.

Throwing the kitchen sink at your child will not make them function better or faster.  Space them out so that your child doesn’t burn out, and more importantly, so that YOU don’t burn out. You can clearly see whether your child is benefiting from your visits with a therapist.  Therapy is expensive, don’t waste your money.

PRACTICE and REPETITION are successful means of learning for EVERYONE.

If you see your child do something in therapy, try to simulate that in your home or in the community.

Try to find community events and nonprofit organizations that have sports and social events to match your child’s needs. That will be as important, if not even more important, than therapy in the long run.  It will help create an environment where your child is just like other children, and help you network with other parents, and it’s FREE or less than therapy.

It takes a village!

Make sure you and your interventionist (specialists, teachers, private and school therapists) are all in communication with each other. This will benefit your child the most.

No one person will push your child ahead, it is the combined efforts of everyone, carryover from one setting to the other, and working on common goals that overlap or complement each other that will help your child achieve their goals.  Hint: email is one of the best ways to keep a log

Ask lots of questions.  It’s not insulting to a doctor or therapist when you want to understand why they’re doing what they’re doing.  It means that you’re interested.  If anyone is insulted by that…. think twice about going back!

You know your child best, you can read their cues better than anyone.

You are the expert!!

Written by: Sharon Galitzer PT, DScPT, MS, CIMi

Bohring-Opitz Awareness Day

Talynn Gurganus was born at 35 weeks on January 27, 2014. At birth, she was transported to Children’s Hospital of the Kings Daughters and spent 3 ½ weeks in the NICU.

At birth, she was transported to Children’s Hospital of the Kings Daughters and spent 3 ½ weeks in the NICU.

Over the first 11 months of her life, Talynn demonstrated the following symptoms:

● Missing part of her brain (P-ACC)

● Feeding difficulties (G-tube fed)

● Very slow growth (failure to thrive)

● Developmentally delayed

● Birthmark (flammeus nevus)

● Nearsighted (myopia)

● Prominent eyes

● Low muscle tone (hypotonia)

● Recurring respiratory infections (pneumonia)

● Silent aspiration

● Unable to communicate verbally

● Multiple hospitalizations

● Sleep apnea

● Abnormal hair density and length

We were in need of answers as to why our daughter had these symptoms and why she was hospitalized so many times.

We went through many doctors until we found the right team of twelve. Finally, the day came when we got a call from our Geneticist. She told us she suspected that Talynn had Bohring-Opitz Syndrome.

Bohring-Opitz Syndrome is an extremely rare genetic syndrome.

There are fewer than 100 cases in the world.

This syndrome is diagnosed by genetic testing and is a mutation in the ASXL1 gene.

The leading cause of death is respiratory infections.

Children with BOS can have feeding difficulties, recurring respiratory infections, sleep apnea, developmental delays, failure to thrive, abnormal hair density and length, Wilm’s Tumors, brain abnormalities, silent aspiration, and the list goes on.

On January 14, 2015, the genetic blood work came back and confirmed Talynn had Bohring-Opitz Syndrome.

Talynn’s first year of life was her hardest, but now that we know that she has BOS, it helps us better prepare for the hard days.

Since Talynn’s diagnosis, the only additional symptom she has developed is seizures.

Talynn continues to develop, but at her own pace. We will never let any of these labels define who she is.

We will help her be the best she can be!

Show your support this April 6, 2018 by wearing navy and gold for Talynn and the other Bohring-Opitz Syndrome patients!

Follow Talynn’s Journey @talynnsjourney.

Our Rare Disease Story

I imagined going for walks in the park with our dogs, swinging on swings and sliding on slides, shopping for shoes and her first pair of earrings, and sharing my great love of horses and horseback riding with her.

I pictured braiding her hair and talking about boys, sipping cocoa and watching movies like The Lion King and Frozen, singing songs on the radio with her in the car. . .

She was perfect, and beautiful. Our lives would be perfect and beautiful too.

It was Not perfect when we got home – unless you wanted to call it a perfect nightmare. She didn’t sleep.  She just didn’t.  She spent the nights wailing and screaming inconsolably.

I spent night after seemingly endless night in tears as I carried her, patting her, rocking her, nursing her until she slept – only  to lay her down and have the screams start again.

I didn’t know what to do. No one did.  I assumed it was colic, changed her formula and tried every over the counter gas and colic relief I could find.  Nothing worked. I resigned myself to suffering through it.

On top of everything else, she was a poor eater and scored “Failure to thrive” at her first checkup.

When she was 3 months old, my sister in-law noted that she wasn’t tracking. Fearing Hydrocephalus, we rushed her to the E.R.

The doctor there examined her, and ran a CT scan.  He relieved us of that particular fear, only to tell us that there were other concerns. “Global Developmental Delay.”

Those three words were just the tip of the iceberg that would turn our normal world upside down.  One doctor, referral and specialist after the other; each in turn left scratching their heads.

Was it Cerebral Palsy?  For a time, it seemed this would be our diagnosis.  I felt total dismay, but then a tiny sliver of hope.

After all, there were a few extraordinary individuals who overcame CP and lived full (if modified) lives. But one doctor wasn’t ready to assign this diagnosis.  It didn’t quite “fit.”

So we were sent to yet another hospital, with more specialists, examinations, consultations and tests.  Finally, full genetic testing was ordered.

As I had too many times before, I held down my hyper-flexible little girl as she screamed while vial after vial of her blood was drawn for testing.  My heart tore for her.  No child should suffer so much as this.

Eighteen weeks ticked by, suspending us in agony, leaving us victims of our imagination as we imagined the worst.  Finally on a summer day in 2016, I got the call.

“We have a diagnosis.”  My heart leapt with relief. Finally, we would have answers.

Finally, we might have a chance to cure her, to fix whatever was wrong.

At our consultation, the doctors seemed to struggle to explain what we were facing.  ATP8A2 was something they had never encountered, or heard of, for that matter.

They could name it, and they could explain what happened, and even give us an approximate time frame of when it occurred, but there was No Prognosis.

No one could tell us how the combined deletion and mutation would impact her life, or if it would impact her life expectancy.

We were told that there were 6 other documented cases in the world at the time, but she was the Only One with her exact deletion/mutation combination.

The hardest news for me was that there was no cure, no experiments or medical study. I was beyond devastated.   How could this be?  What were we going to do?

Now she’s turning three.  She’s lost the few words she had when she was not yet a year old, and she’s still unable to hold up her head, eat, roll over, crawl, sit, stand or walk.

She might never do those things. She loves to swing if she’s in our lap, but pony rides are still a distant dream.  She has very poor vision, and not much patience for TV, let alone movies.

I’ve recently learned there are actually about 15 cases documented worldwide that are exactly like hers.

I’ve even been able to contact a few of the parents and I’ve learned that with one or two exceptions, our kids all exhibit the exact same symptoms. Hypotonia, Ataxia, Atrophy of the Optic Nerve, Myopia, Hyper-Gag Reflex, Non-verbal, Non-mobile. . . handicapped  in every sense of the word.

One bright spot is that they understand everything. They can learn. They just can’t communicate.

As for my daughter, she’s a healthy, growing girl. She finds tremendous joy in the simplest things – like the breeze blowing through her hair.

She draws people to her wherever she goes with her happy smile, and love of attention.  For as long as she lives, I will fight this condition.

I will fight to make her life the fullest, richest and happiest that I can.  I will fight this with her, and for her.  And perhaps we can help make a difference.

Perhaps, these other parents and I with our kids; can help turn the attention of the medical world to the plight of our children.  Maybe – just maybe – there’s a cure to be found.

Certainly we can help bring global change to how the world views and understands Special Needs.

When Every Day is Rare Disease Day

It is estimated that 350 million people worldwide suffer from a rare disease, 80% of rare diseases are genetic in origin and 50% do not have a specific foundation supporting or researching their condition.

In my life, a rare disease is all of the unknowns surrounding my child.

5 years ago, Aubree was born. In those 5 years she has bravely tolerated intense weekly physiotherapy, occupational therapy, speech and language and feeding therapy appointments.

Multiple blood tests, MRIs of her brain, Botulinum Toxin injections, countless Doctors poking and prodding and leaving none the wiser.

In 5 years of life she has been misdiagnosed with 6 different conditions, each one more tragic than the last.

She has stumped every professional she has ever met, she is a quandary to specialists and more unique than we ever thought.

Most recently Aubree had a complete genome sequence, to try and find any possible fault in any gene that would cause her long list of symptoms to express themselves the way they have, it’s like trying to find a spelling mistake in 50 encyclopaedias.

Incredibly after a long wait, we got results, they found 2 class V genetic mutations in the SLC17A5 gene, located on chromosome 16q14-15, causing a condition called Salla Disease.

Salla Disease is an autosomal recessive lysosomal storage disease, her mutations cause a build-up of Sialic Acid, which is toxic to brain matter, so it destroys brain and central nervous system tissue.

Oddly, it was quite a relief to have this definitive I-promise-it-won’t-change-in-a-year diagnosis, however tragic it seems, this was a reason behind everything she has, everything she is.

Our geneticist said, “I can’t quote a number, there is no national average, there are only a handful of people in the world with this condition, and none from this country.”

Along with this came a strange sense of pride, at this point we was entirely unsurprised by its rareness, the trail of bewildered specialists we left in our wake were proof enough.

Not much is known about this condition, nothing is certain, all we have is now.

So, this is Aubree. She has an incredibly rare, life limiting progressive disease, she is also the most tenacious, exuberant, kind, innocent, wild soul I will ever know.

Do I Really Need a Fitbit..?

In recent years, there have been very humbling moments that we got to witness in our lives, how technology has enabled humanity to reach its full potential.

It almost feels like the efforts of all those struggling to make this technology possible would be in vain, if we don’t take the opportunity for them to enrich our lives.

The Fitbit is a wireless bracelet that captures the daily physical activity of a person, including such things as steps, distance, calories, sleep quality and more.

Fitbit can do this by taking advantage of the accelerometer technology, which monitors progress in the speed of your movement.

To be fair, no specific health claims have been made, but this kind of device is known to improve cardiovascular health, reducing blood pressure.

Think of it as your virtual fitness partner, as it can constantly record your activities even while you sleep.

Unlike other fitness watches, it was designed with style in mind. A narrow band that is not too large, and it fits comfortably on your wrist.

Why Do You Need a Fitbit?

The device is very innovative when combined with a corresponding app on your smartphone. The list of useful features is as follows:

–  You can enter your food intake with caloric value of the particular food item,

– The caloric intake of food during the day can be used to map the calories burned throughout the day, even without exercise.

– Together with the calorie counting base, it also interprets your daily movements such as walking, steps, running, etc.

– Along with the data capture for physical activity, it also records rests throughout the day.

Needless to say, the device is highly efficient for obtaining valuable information about your daily routine, which can be shown on a variety of graphs showing your performance over time.

How Does Fitbit Work?

What if you had a way to track all those steps you climb to work every day, miles you covered on your daily run, the food you eat, and even how well you sleep?

Fitbit has created a way for the user to do all these things and more.

Set Fitness Goals

Fitbit gives you the opportunity to set fitness goals every day.

The Led panel displays on the front of the bracelet light up which shows you your progress in relation to the day’s goals.

With this, you can challenge yourself and be more active

Track Key Metrics

With Fitbit, you can track things such as; steps taken, miles or kilometers covered, calorie burn, and your sleeping habits

Silent Alarm

In addition to monitoring the quality of your sleep, Fitbit has an integrated alarm that gently vibrates to wake you up.


Since the Fitbit is designed to be used during the day and night, its water-resistant design  means there is no point worrying yourself about getting it wet.

Wireless Sync

Following your fitness progress is easy with Fitbit.

The device automatically sends the data to a PC, Mac or iOS device … without cables!

Mobile App

Fitbit has some great free tools you can use to record and track key trends. The mobile app will help you take your workouts to the next level.

Use the app for tracking workouts, scan barcodes of food, route maps, calorie count, listen to music and much more.

Is the Fitbit Flex Right For You?

Fitbit is a great tool for anyone looking for that extra bit of motivation to stay active.

Due to all the useful features described above, you can have your virtual fitness partner and put yourself on the right track for a healthy and happy lifestyle.

3 Strategies To Get you Walking

Walking is also an easy activity for children to join in and explore the world around them.

Despite these perks, let’s face it–walking can get really old, really fast.

So how can you stay motivated to keep this incredibly easy and beneficial activity in your everyday life?

Use these three strategies to not only get you walking, but keep you walking.

1) Podcasts

Podcasts are audio files that can be downloaded or streamed from your computer or smartphone. iTunes alone boasts that it has hundreds of thousands of free podcasts.

With such an extensive inventory available to you, finding a topic you’re interested in (or already love) should only take a quick Google search.

Looking for information about the latest cerebral palsy or other special needs equipment? Look no further.

Are you a gardening enthusiast? Take your pick.

How about a lover of episodic horror stories? Got you covered.

2) Library Audiobooks

Library cards are free, and they provide access to far more than just the printed and bound books that line the shelves.

Many libraries also allow cardholders to check out digital materials like audiobooks (through sites like this one).

The audiobook files are usually downloaded through a connected app, where they can be played at your leisure.

When your checkout time expires, books are automatically returned for you.

Check out a story to listen to with your child, and see if this helps encourage them to keep walking as well.

Visit your local library’s website or speak with a librarian to find out what sort of digital offerings they provide.

3) Stream Your Favorite Shows

This one works better on a treadmill when you don’t have to worry about watching where you’re going, but it’s a simple and inexpensive way to get your mind off of your feet.

If you’re like most content consumers these days, you probably already have at least one streaming service you frequent.

If not, subscriptions to Netflix, Huluand Amazon Prime only cost around $8-12 per month.

Not sure if this is for you? Each service offers a short trial period for free.

Another delightful thing about walking is that it’s easy to do with others–friends, spouses, children.

So strap on that Upsee! It’s time to walk.