INTRODUCTION OF ALTERNATING HEMIPLEGIA OF CHILDHOOD
THE PARENTS POINT OF VIEW
SUNNA VALDÍS
Who would ever guess that this beautiful and joyful little girl would suffer from an extremly rare neurological disease. But this is just the case, our daughter Sunna Valdís was diagnosed at age 14 months with Alternating Hemiplegia of Childhood.
AHC is a progressive neurological disease and known cases around the world are around 650.
What Is AHC?
AHC is a rare neurological disorder in which repeated, transient episodes of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once.
The hemiplegia ranges from simple numbness in an extremity to full loss of feeling and movement.
The episodes may last for minutes, hours or even days and are normally relieved by sleep.
The episodes of hemiplegia typically alternate from one side of the body to another, but it is not uncommon for one side to be more frequently affected, or for episodes to begin on one side, and then switch to the other
The Symptoms of AHC:
Children with AHC exhibit a wide range of symptoms
These include:
tonic attacks
Dystonic posturing
Ataxia
Nystagmus
Other ocular motor abnormalities
Developmental delays
Seizures in 50% of the patients
The Diagnostic Criteria for AHC
Onset of symptoms prior to 18 months of age
• Repeated attacks of hemiplegia that alternate in laterality
• Episodes of bilateral hemiplegia or quadriplegia as generalization of a hemiplegic episode or bilateral from the beginning
• Relief from symptoms upon sleeping, which may later resume after waking
• Other paroxysmal disturbances, including tonic or dystonic spells, abnormal involuntary eye movements, or autonomic symptoms which may occur in addition to the hemiplegia attacks or independently
• Evidence of developmental delay, dystonia or ataxia
•
What this means in laymans term is that our daughter gets episodes that leave her paralized and also affect the development since she “forgets” things and actions that she has learned so she will have to learn them again and again.
What triggers an episode ?
All children and young adults are different and have different triggers
The most common triggers are:
Water exposure – Emotional response – Excitement – Changes in temperature
Bright lights – sunlight and fluorescent light – Childhood illnesses and infections – Fatigue
Loud noises – Physical exercises, – Odors – Certain types of foods
THE PARENTS PERSPECTIVE
The first thing we did after we got the diagnoses was to google the disease, find out everything we could about the disease and how we could get a cure for our daughter.
With todays technology we can find almost everything on the internet but with very rare conditions like Alternating Hemiplegia where the reason for the condition is unknown, quality information can be very hard to find. Research is limited and information about how our child is going to do in the future is a blank piece of paper but we do know that a cure is not available – not for now.
With Alternating Hemiplegia the childrens cognitive and physical development range from almost normal to very poor.
Children with AHC have normal cognitive and physical development when they are born but with each episode they get worse so we are fighting the clock to find a cure. The simptoms of this disease is always changing, just when we think we have it under control something changes and we have to start learning how to react to the new simptoms once again.
Realizing that the world as we know it has changed forever was a traumatic event and dealing with it is something we have to work on constantly.
Our home changed from being a normal home to being a kind of a mini-hospital with special equipment for our daughter, a drug cabinet full of medicin and the home almost free of guests except on limited organized visiting hours.
The future of the child is always in the back of our mind. Will we always have to take care of her? What will happen when we die? who will take care of the her then? Will she ever be able to help herself with basic needs when she grows up?
The first years in Sunna´s life went by in a fog we were in and out of hospitals basically just trying to do our best to survive and keep our daughter as much episode free as possible.
It´s easy to block yourself from society when your social life is almost non excistance and all your friends are living a „normal life“
Just listening to other parents discribing how well their children are doing can be extremely hard.
Many parents live in constant anxiety and fear and need professional help on regular basis. Being able to stay in a healthy marriage can prove to be a really difficult task and needs a lot of planing and determination to work.
We have to accept that our world has changed, it is a very different world but it does not have to be a terrible world.
Getting assistance from the state is a challange for rare disease patients since they often do not fit in the medical and social system, we have been lucky to find people who are willing to look outside the box and find solutions, some of these hard working persons work for The State Diagnostic and Counselling Centre
When a few years passed we realised that we are going to have to do something more, fight the disease and find a cure for Sunna. So this became our mission in life.
We are so isolated on this little island and because Sunna is the first Icelandic patient diagnosed with AHC we could not turn to anybody here for support and advice.
We found an online chat group for parents of AHC patients and from this group we found enormous support and got useful information on how to treat our daughter..
We found associations that had been formed by other parents and saw that they were actually making some progress so we started our own association.
AHC ASSOCIATION OF ICELAND
The Alternating Hemiplegia association of Iceland was formed in 2009. We are a member of Eurordis and we worked with Eurordis in setting up a website for AHC on their rare disease community website. We have made it our goal to be a part of the European rare disease community and also to be close with the north American AHC foundation. We been to numerous meetings regarding AHC and rare diseases. The association agenda is informing the medical community and the public about AHC so that diagnoses can be made earlier but our primary objective is to find a cure for AHC.
AWARENESS
To raise awareness we had to open up our lives to the public, this can prove to be difficult for many people but it is impossible to raise awareness without informing others about your troubles and let the public into your life. Articles have to be written, interviews must be done, videos and pictures must be relieased, webpages must be made, it´s hard work and we use most of our free time to work for the association but we belive that is is worth it and that the work will pay off.
Recently there was an interview with us in an Icelandic newspaper with our children on the front page, since then 2 icelandic families have approached us because they have children that have not been diagnised but show simptoms that resemble AHC and this in a community of 320.000.
It shows us that if information about Alternating Hemiplegia will spread we will most likely have many thousands of AHC patients in the coming years. The odds of anyone having AHC is one in a million which indicates that there should be 7000 persons with AHC but only 650 have been identified.
Working together is the key to success
When we joined the AHC associations funding was and still is a major challenge. The most active associations have biobanks and are in contact with researchers that wanted to do research but lack the funding. Most of the funding that is available is being collected by parents doing charity events like walkathons, marathons, tombolas, selling various merchendise etc.
The association were not working together to make as good a use of the limited funds as they could have. The associations were also not collaborating on the limited research that was being done and so on.
Joining forces
Then the associations realized that we will have to work together if we are going to reach our goal and find a cure. In all the meetings and conferences we have attended for the last 2 years, people are talking about cooperation and collaboration.
WHAT IS GAINED BY JOINING FORCES?
By collaborating and coordinating our effords we make the most of the little funds we have, we also make the most of our effords and can brainstorm about alternative solutions.
NETWORKS ARE CREATED
VALUABLE FUNDING IS NOT WASTED
TIME IS NOT WASTED
BRAINSTORMING BY LARGER NUMBER OF DEDICATED PEOPLE
IDEAS ARE SHARED
COOPERATION AND COORDINATION PAYS OFF FOR OUR CHILDREN
Our cooperation with the Nordic countries could be better, we are in contact with the Danish AHC association but we have no knowledge on how many AHC patients are in Norway, Sweden or Finland and this is a pity.
It is very important that the countries are not doing the same research so that the valuable funds and time is not vasted. Working together is the key to success. This cooperation seems to be paying of for AHC associations and this year we are making progress in discovering the genes that cause Alternating Hemiplegia. It is safe to say that since we formally started our cooperation last year we have made more progress than had been made on this disease in the last 40 years.
Of course technology has helped us immensly but still I tribute our international cooperation a big portion of this milestone success.
WHAT IS NEXT?
Finding a drug that counteraffects the mutated genes may take many years. Funding and pushing drug trials is the next challenge
Driven parents
Through our work we have met alot of fantastic parents that are driven by the objective to find a cure for their children.
OUR FUTURE
Without the help of very good friends, amazing relatives, kind hearted strangers and driven proffessionals life would be much harder
We are very lucky that most of the time our daughter is a happy child and it is a real joy to be around her but without a drug to stop the episodes the future for us and our litle daughter is going to be a real struggle.
Having said that we are optimistic that ….
WE WILL FIND A CURE FOR AHC
We hope we have shed some light on the effort and hard work it takes to be a parent of a child with a rare disease and the importance of associations and the medical community working together towards the goal of finding a cure for rare diseases.
Thank you.
Sigurður Hólmar Jóhannesson
Ragnheiður Erla Hjaltadóttir