I have been amazed at how our girl has blossomed. She has gained weight, she has outgrown many clothing sizes and she went from barely sitting up to now walking with assistance.

She has learned to communicate by using sign language and she is hearing with the assistance of a cochlear implant.

Even with all the discoveries, we still have many unanswered questions.

Our medical paperwork has huge blanks due to her medical history and family history being unknown.

Last week, our doctor suggested that we explore the field of genetics for more answers.

We will be going to a genetics clinic later on this month and begin testing in hopes of learning more about Afua.

A part of me is excited to gain more information and a part of me is nervous that we may find something more devastating.

But like our Doctor said, knowledge is power and we can be more proactive about Afua’s care once we know more.

I’d been waiting all afternoon to talk to the attending doctor, and he still hadn’t arrived by eight in the evening.

But as luck would have it, he of course arrived at my daughter’s bedside just minutes after I’d left the unit.

My husband was still there pacing back and forth like a point guard next to Mia’s bedside, so I knew she was in good hands.

The long awaited talk with the attending doctor is always a special occasion in the hospital, not only because we get to talk to the person that is calling the shots, but because it is also the chance to explain the intricacies of our daughter’s rare diagnosis.

Being able to convey these details sometimes can make a difference in the clinical care that is provided.

Carrying the badge of a rare diagnosis means that nine times out of ten, even the most versed doctor will not have heard of your child’s condition—or let alone even met another child with the same diagnosis.

It also means that the hidden unknowns of the rare disease can often cause surprise side effects to typical medical interventions.

Parents of children with rare diagnoses spend a great deal of time researching and networking through the glory of today’s social networks.

Gathering information and anecdotal experiences, basically anything that can paint a picture of the rare condition at hand and hopefully allow for some insight into medical care.

My husband did his best to convey the prevailing characteristics of our daughter’s diagnosis, even spelling out the syndrome twice to ensure that the doctor could do his own research.

So I was a little surprised, when I later read the patient medical history, which read, ‘Patient has an extremely rare genetic disorder called Phasing McMurphy Syndrome. It is not listed in any database.’

I had to laugh at that one, it sounded more like a popular pub than a diagnosis to be reckoned with.

My daughter has a rare syndrome, but it actually is recognized internationally with an estimated 1,000 children and adults currently diagnosed worldwide.

She happens to be the only registered case in Switzerland, even though statistically there should be more.

It is called Phelan Mcdermid Syndrome (P-MS), and involves a micro deletion on chromosome 22, so it is sometimes also referred to as 22q.13 Deletion Syndrome.

Sadly, this is not an isolated scenario.

Families with rare diagnosis children are born into the role of advocate from day one, mostly out of necessity.

The National Portage Association is “named after the town of Portage in Wisconsin, USA. It was developed there as a way of supporting parents in helping their children in their own homes” http://www.portage.org.uk/.

t is a charity that works closely with the county council community services and provide educational play therapy for children with additional needs.

They work with profiles and developmental checklists which feed into the journals used by early support services and educational settings, helping to identify additional needs, strengths and targets for future learning.

Our Home Visitor has been fantastic!

Of all the people we have met through early support services she is the one who has got to know Twinkle the best, partly because she has had such regular contact, but mostly because play therapy is fun!

She gets to see more of Twinkle’s developing personality than anyone else and bring out the giggles in her.

Another dimension has been that she is a parent of a child with additional needs herself and therefore has been in our shoes.

Of course this isn’t a pre-requisite for providing caring therapy to a child, but it really does make such a difference emotionally for me as a parent knowing that I am speaking to someone who really does understand a lot of the journey our family is taking.

Our Home Visitor has been a regular visitor and friendly face to the whole family.

Someone to answer questions about the often confusing early support, health and education system and the person who sorted out the gaps in support for Twinkle for us – the involvement of Visual Impairment team (much needed as Twinkle has cortical VI) and a referral for Music Therapy (which Twinkle loves and really brings her to life!).

The portage service in our area help to run weekly groups for children with additional needs at various children’s centres around the city. They have also been running an annual portage party!

We went to the party last year and it was great to meet lots of other families similar to ours and to be in an environment where we were all ‘normal’!

We met some lovely people who we have since kept in touch with (in real life and also found we were in the same online support forums – small ‘additional needs’ world!).

However, now that Twinkle has gone up to 15 hours at nursery we have come to the end of our entitlement to portage visits and we had to have a very emotional (for all of us!) sign off visit a few weeks ago.

My little baby is growing up and growing out of early support services ready to start school!

And we will really miss our regular visits from our lovely friend……I really hope we will manage to keep in touch!

Tim explains; “I run because I can. When I get tired, I remember those who can’t run, what they would give to have this simple gift I take for granted, and I run harder for them.” (source: http://www.whoirun4.com/about-ir4/)

I registered Hugh, my 4 year old son who has severe developmental delay, and he was quickly paired with a runner from America.

Runners and their ‘buddies’ are encouraged to post regularly ion the Facebook group with photos, details of their run or workout, news and messages of support.

The page is a hive of daily activity with buddies and runners from all over the world sharing stores, building relationships and making connections.

Some runners compete in races wearing t-shirts emblazoned with the name of their buddy then send the medals on to them.

Some runners and buddies have met, others run in virtual races and clock up the miles to cover the distance between them.

Some runners post photos of their workouts all with the message – ‘I’m doing this for you’; the person they’re running for spurring them on to train harder or run faster.

The buddies send regular updates – what they’re doing at school for example – and some post cards and letters or pictures to their runners.

They also have two secondary organisations, building on the foundations of the original idea:

Kerri on: I run for remembrance: where athletes are paired with families who’ve lost members due to special needs conditions, sudden death or other tragedies

I run 4 siblings: the unsung heroes: which pairs athletes with the brothers and sisters of children with special needs.

Hugh being matched with a runner was fabulous, but he is profoundly disabled and has no awareness of it.

I have enjoyed making connections with his runner though and sharing stories about Hugh with her and she has offered encouragement and support, particularly when Hugh has been in hospital or unwell.

For our family it is The I Run 4 Siblings group which has had the most positive impact.

Siblings of children with special needs are often the forgotten heroes in the drama.

Sean, at just 6 years old, has witnessed and experienced things no child ever should.

He has watched me resuscitate Hugh countless times, he’s witnessed his baby brother being whisked away in an ambulance with blue lights and sirens, and he’s seen him hooked up to all kinds of monitors and machines in hospital.

From a very young age he knew how to ring for an ambulance and he’s already adept at tube feeding.

Even with the best of intentions our lives revolve a little (and sometimes a lot) around Hugh. If Hugh’s ill we can’t leave the house – friends and family take Sean to school for me.

If Hugh’s in hospital (which is often), Sean is palmed off on whoever can help, since I need to stay in the hospital and their dad needs to work – unfortunately those bills still need paying!

We do our very best to make Sean feel important and special but he knows, and accepts with his adult-like empathy, that often Hugh’s needs are our priority.

And that makes me very sad.

So when Sean got paired with a runner I was delighted to share it with him. This was something just for him.

He has been really involved with messaging Sarah, his runner, and is excited to hear from her.

The teacher in me couldn’t resist using it to teach him about the world – so we looked at where Sarah is from in America and where she has been deployed to with the army and found them on the globe.

We found out the time zones in both those places and at various times of the day we’d check to see if Sarah or her family at home would be awake or asleep.

Sean’s really impressed she’s in the army and has asked lots of questions about war in the Middle East.

He eagerly scours the photos she posts for any tanks or guns and even asked if she might be able to send him a real one!

In return, Sean likes to tell Sarah about football (or rather soccer as she calls it).

He’s shared his love of Aston Villa with her and about the matches he’s played with his local team.

And when he received an engraved medal at his football-themed birthday party earlier this year – he asked me to post one out to Sarah. Last week Sean was off school with a bug.

He sat curled up on the sofa watching films.

Then up popped this: All the way from an army base in Kuwait came a get well message. #And what followed were messages to ‘feel better soon’ and ‘get well’ from runners and buddies alike all over the world! Sean was absolutely delighted.

If you would like to find out more about I Run 4, their website is here: http://www.whoirun4.com/

CE consolidates forms of education and rehab in a client centred approach, and helps people with lifelong disabilities improve/maintain their maximum level of independence by improving their physical, cognitive and problem solving abilities by working collaboratively with a multidisciplinary team (Tuersley-Dixon et al, 2010).

The role of the ‘teacher’, known as a Conductor; Analyses, provides feedback, keeps tempo, guides, practices, coordinates, encourages and motivates individuals as they gain mastery of their minds and bodies.

The “conductor’s music” is the particular functions and everyday tasks that a person needs to perform in order to reach their maximum level of independence and control.

This method aims to avoid learned helplessness that may come from doing too much for a child, rather than teaching the child to do things for itself.

Who can be treated?

Conductive education is suitable for children and adults with neurologically based disorders of movement, balance, voluntary and involuntary muscle control, perception, speech and language.

Suitable conditions include; Cerebral palsy, Parkinson’s Disease, Multiple Sclerosis, Stroke and Acquired Head Injury

Conductive Education in Northern Ireland

Background

In Northern Ireland, Conductive Education is administered a Buddy Bear Trust School.

This school was set up by the Buddy Bear Trust charity for children who suffer from cerebral palsy and motor disorders. Conductive education at the School has had life changing consequences for some of the children who have been lucky enough to attend.

The School can only help 12 children, each on a part-time basis. This is due to lack of funds and consequently, lack of teachers.

The school is, however recognised by the Educational Authorities in Northern Ireland as a Private Independent School.

Cost

The Buddy Bear Trust School is an independent school recognised and inspected by the department of Education.

The Education and Library Boards have paid the fees to enable children to be educated at the school since it opened in 1993.

The Education and Library Boards also pays a travel allowance to parents/guardians if necessary.

Parents pay nothing for the provision of the services of the school.

Whilst all political parties in Northern Ireland have been very supportive over many years, public funding has been very limited.

Referral process

Any parent who wishes to have a child attend the school should first of all contact the school and arrange an appointment to meet the principal Ildiko Veres who will then assess whether the child can be admitted to the school.

Any child of school age will be considered for admission.

Children of pre-school age will have the opportunity of attending the Mother and Child Group.

Parents may indicate a preference for the Buddy Bear School and if the statement names the Buddy Bear School the Education and Library Board must place the child in the school and pay fees and may also pay a contribution towards travelling expenses.

Arranging for a Board to place a child in the school can be quiet a long and complicated procedure so it is recommended that the parents start the process as soon as possible.

Contact

Buddy Bear Trust Killyman Road Dungannon BT71 6DE

Tel & Fax: 028 87752025

Email: [email protected]

Research

Strong evidence based research on Conductive education is limited and it has been assessed in only a few controlled studies which have focused mainly on progress in motor skills, and the method has been compared to traditional physiotherapy.

These studies are known to have been unsuccessful to reveal the dominance of conductive education.

There has been no scientific examination of long-term success or cost effectiveness of the therapy as a whole.

A review by Darah et al in 2004 found that the research literature did not provide conclusive evidence either in support of or against conductive education, and that the limited number of studies and their poor quality made failed to provide purely evidence-based decision-making about conductive education.

References

Darrah, J., Watkins, B., CHEN, L., BONIN, C., 2004. Conductive education intervention for children with cerebral palsy: an AACPDM evidence report. Developmental Medicine & Child Neurology, 46, pp.87–203.

Fossberg, H., Rosbald, B, 2000. Conductive education -an educational program for children with cerebral palsy, Swedish Council on Technology Assessment in Health Care.

Sutton., A, 1999. Towards Conductive Education. In ISBN 978-963-85499-2-1

TUERSLEY- DIXON, L., FREDERICKSON, N., 2010. Conductive education: appraising the evidence. Educ Psychol Pract, 26, pp. 353–73.