GLOW OF HOPE

Waiting for that Light to Sparkle ...
Follow Abhishek
Image may contain: ocean, sky, outdoor, nature and textImage result for atp1a3 symposium 2019

The 8th Annual Symposium on ATP1A3 in Disease

3-4 October 2019 

Reykjavík, Iceland


The 8th Annual Symposium on ATP1A3 in Disease 2019 will take place 3 - 4 October 2019 at the beautiful and conveniently located Grand Hotel Reykjavík in Iceland.
The host this year is the AHC Association of Iceland supported by an organizing committee that consist of European scientists that have been working on ATP1A3 related diseases for many years.
The ATP1A3 Symposium in Disease’ is an important symposium that focuses on one of the key genes, the ATP1A3 gene that is essential for normal brain functioning. Mutations in the ATP1A3 gene has been linked to several neurological diseases, including Alternating Hemiplegia of Childhood (AHC). The ATP1A3 gene encodes the alpha(a)3 subunit isoform of the sodium pump, an ion pump that is present in all cells of the body and help cells to maintain correct ion balance, to support in-and outflux of molecules in the cell. In the brain, the a 3 isoform is specific to nerve cells, the neurons. In most neurons, the a 3 isoform helps to maintain the resting membrane potential and reset the ion gradient after an action potential. Doing this, the sodium pump uses energy from the cells and is the most energy-consuming ion pump in the brain. Therefore, it is not surprising that mutations that alter the function of such a vital pump, is associated with neurological diseases.

Registration is open!





Confirmed Invited Speakers:


  • Allison Brashear - Professor, Wake Forest Baptist Medical Center, Winston-Salem, North Carolina
  • David B. Goldstein - Professor, Columbia University, New York
  • Francesco Danilo Tiziano - Associate professor, Università Cattolica del Sacro Cuore, Milano, Italy
  • Guangping Gao - Professor, University of Massachusetts Medical School, Worcester, Massachusetts
  • Helga Birgisdóttir - Artist, CEO and Creator of SMILER, Iceland
  • Kári Stefánsson - CEO of the company deCODE genetics, Island
  • Kathryn Swoboda - Professor, Massachusetts General Hospital, Boston, Massachusetts
  • Kevin Ess - Associate professor, Vanderbilt University Medical Center, Nashville, Tennessee
  • Laufey Ýr Sigurðardóttir - Child Neurologist and Epileptologist, University Hospital of Iceland, Reykjavik, Iceland
  • Laura Heimgartner, Mother of the boy Dax, who has AHC
  • Marisol Sampedro Castaneda - Project Research Scientist, The Francis Crick Institute, London, United Kingdom
  • Mohamad Mikati - Professor, Duke Institute for Brain Sciences, Durham, North Carolina
  • Peter Vangheluwe - Associate professor, Katholieke Universiteit Leuven, Belgium
  • Poul Nissen - Professor, Aarhus University, Aarhus, Denmark
  • Steven Gray - Associate professor, University of Texas Southwestern Medical Center, Dallas, Texas


    This year, we also have the honor of having The President of Iceland, Gudni Th. Johannesson, giving the opening speech at the symposium (if his schedule permits).

Associations & Organizations in attendance:


  • AHC Association of Iceland  - An association for patients with Alternating Hemiplegia of Childhood, and a non-profit organization offering support for affected children and their families
  • AHC Federation of Europe - Finding a treatment for Alternating Hemiplegia of Childhood

Further confirmed invited speakers will be announced soon

History of the ATP1A3 Symposium


Already since 2004, it has been known that mutations in the gene could cause a rare subtype of dystonia, the Rapid onset of Dystonia Parkinson (RDP). Since then, mutations in the ATP1A3 gene has been linked to diseases, including Alternating Hemiplegia of Childhood (AHC). Understanding the gene function will help find a treatment not only for the RDP and AHC diseases that have direct link to this gene but also to many other neurological diseases, which could will help millions of people suffering from disease such as Parkinson.
AHC is an extremely debilitating disease that causes temporary paralysis and dystonia as well as permanent mental disability, ADHD, autism and other related symptoms. Since the discovery that mutations in the ATP1A3 gene could cause AHC, researchers, parents and medical consultants join forces and formed the ATP1A3 annual symposium, to exchange advise, results and data to advance our knowledge towards a treatment.
The ATP1A3 Symposium in Disease’ took a starting point in 2012, where 3 publications (Goldstein (doi: 10.1038/ng.2358), Gärtner (doi: 10.1016/S1474-4422(12)70182-5) and Hirose (doi: 10.1371/journal.pone.0056120) groups, including many very dedicated researchers, parents/patients and clinicians, representing people who stay active in the research field) showed that mutations in the ATP1A3 gene could cause Alternating Hemiplegia of childhood (AHC), in addition to another movement disorder, Rapid onset of Dystonia (RDP), that was discovered in 2004. Since then, the genotype/phenotype of ATP1A3 and neurological diseases has proven extremely complex, and through our annual symposium meetings, we gather prominent scientists along clinicians, parents and patients to understand the disease and find a cure.  
Link to our vision and previous meetings: http://www.atp1a3disease.org/  
------------------------
My sincere thanks goes out to the Symposium Organisation Committee for all this effort put in the organisation and we cannot wait to attend the event 

Organizing committee

Representative of the AHC Association of Iceland, mail: ahc@ahc.is

Associate professor, Aarhus University, Denmark, mail: kly@biomed.au.dk 

Associate professor, Aarhus University, Denmark, mail: hp@mbg.au.dk

Professor, Aarhus University, Denmark, mail: pn@mbg.au.dk

Hendrik Rosewich,
Assistant professor, Georg August University, Göttingen, Germany, mail: hendrik.rosewich@med.uni-goettingen.de

Professor, Leiden University, Netherlands, mail: A.M.J.M.van_den_Maagdenberg@lumc.nl 

--------------------------
All text, information and pictures have been taken from the ATP1A3symposium2019 website and they hold all the copyrights. 

It has been a very long time since I wrote something on my blog. Life has been quite difficult these past few months with Anya's medical condition but that I leave for another blog post. Right now we are taking about Multiple Sclerosis (MS) and my journey of having this condition for nearly 18 years - I have been experiencing something that is known as a 'Foot Drop'.  

Image result for walking

Now you must be thinking what the hell am I actually talking about ???? 

Yes that is right - there is actually something called a 'Foot Drop' 

So what is a Foot Drop ? 


This is what I actually got when searching on the internet - Foot drop is a gait abnormality in which the dropping of the forefoot happens due to weakness, irritation or damage to the common fibular nerve including the sciatic nerve, or paralysis of the muscles in the anterior portion of the lower leg. It is usually a symptom of a greater problem, not a disease in itself (Source: Wikipedia).


Image result for a foot drop


Yes that is true - I am dragging my feet after a minute or so of walking. Its difficult to maintain that gait and time comes when I actually need to rest. 


What is the underlying problems of 'Foot Drop' ? 

It can be a long process to cure but it is very important to find out the underlying problems that has led to this drop. In my case it is my Multiple Sclerosis (MS) but for others it could be problems with peripheral nerve damage or neuropathy. In this most often its the squashing of the nerve that control the muscles that lift the leg. Most of the time even trapped nerves around the knee and lower spine could lead to a foot drop. Nerve damage linked to people having diabetes could also be a link to foot drop. Another underlying area is muscle weakness which is linked to muscular dystrophy and muscle wasting. When we speak about MS it is connected with causes on the brain and the spinal cord. Along with Multiple Sclerosis (MS) people with stroke and cerebral palsy are linked with the brain and spinal cord disorder.

How to get tested ? 


The best option is to first get yourself diagnosed and that is what I will be doing - I have my neuro  physiotherapist appointment coming soon and that will help me immensely just knowing what my  problems are and a strict exercise regime to improve and strengthen my foot. Maybe there would be the use of imaging tests like x-rays, ultrasound scans or CT scans. We just have to see what is in store. 

Best precautions to take with a ''Foot Drop''   


That is right - the most important tip here is to be careful as foot drop can lead to people having lots of falls. The falls happen when you find it difficult to lift up your front part of your foot and it starts to drag which leads to the body being unstable and you have a fall. This is the exact image to what is happening to me right now. 

There are measures in place to take and prevent a foot drop.  The need to start making small changes at home and your work place so that accidents do not happen. Its always easy to say then actions taken  ...... Changes have to be made - FULL STOP !!

Also other steps that people can take are :

  • Neurophysiotherapist:  Works on strengthening your weak muscles and gets the coordination back. Its a commitment and to get best results you have to follow their structured plan their recommended exercises. 
  • Electric Nerve Stimulation or ENS:  This step works with some patient but surely to get professional advice (your GP or Neurologist) on this and if it is needed in your case. 
  • Surgery:  This option is there in severe case but the best way to go about it to get professional advice on if you really need it. Your GP would be the best person to give that advice and recommend the best way forward. 
  • Ankle or Foot Brace:  This is a ankle-foot brace or splint that is worn on your lower part of your feet and gives support to the ankle and foot. This support straightens the foot and improves on the walk of the person. 

These are all steps that I would be looking into to try and get over my 'Foot Drop'. I know it is not the end of the world and I can still carry on living a normal life but something tells me that if I can strengthen my legs and my foot drop - a future MS episode did come my way, my legs would be strong enough to fight it and I still will have the ability to walk. Just have to be positive and take each step as it comes !!



Image result for foot drop


What is your take on 'Foot Drop' and have you experienced it personally or know someone that undergoes this medical condition ? 

Have your say on the comments box .....






Join us 

MAY
19

1 in a Million Charity Quiz for Anya Behl

Image result for anya behl

















Description

Our Charity Quiz and raffle, hosted by Goose's Quizzes, is to raise money for Anya Behl/AHC research, Sunday 19th May at Akva starting at 3pm

Anya has an extremely rare genetic condition called Alternating Hemiplegia of Childhood. She is only one of two children in Scotland with this devastating diagnosis and we are hoping to help her parents raise money for research to help find a cure for this condition. We can only imagine how this affects their every day lives and how hard it is to watch their child in so much pain. The following article gives more detail into their journey with this condition:
Please join us in helping to support Anya and her amazing parents, Katherine and Abhishek
Tickets are £5 per person or £28 for a group ticket for up to 6 people (excluding Eventbrite booking fee and VAT)

Children are welcome at Akva. The Quiz starts at 3pm but we recommend arriving 10-15 minutes before to secure your seat and buy a ticket for the raffle! :)
You can also pay on the day although we would prefer you purchase in advance so we can have an idea of many people are coming.
We will be holding a raffle with prizes, so far, including:
  • Charlie Miller haircut & blowdry
  • Walker Slater cashmere scarf
  • Cafe Anduluz £25 voucher
  • Valvonna & Crolla £20 voucher
  • Two tickets to see Amelie at the King's Theatre on June 25th
The winning quiz team will receive a gift from Akva! Maximum 6 people per team.
If you can't make it to the quiz but would like to donate here is Anya's Just Giving page:
Thanks so much you for your support!
Anya's medical condition showcased on BBC Scotland News at Nine. Attaching the write-up below:

My one-in-a-million daughter is a 'human timebomb'

Anya Behl
Image captionAnya can sometimes lose developmental skills and have to re-learn them all over again
An Edinburgh mother has described her 18-month-old daughter as a "human timebomb" after being diagnosed with a one-in-a-million condition.
Anya Behl is one of only two Scots with the rare illness, with only 500 cases in the world.
Doctors describe it as being like having seven diseases all at once.
Katherine Behl said she wakes every morning not knowing if it will be a normal day or one where her child has a life-threatening episode.

'Thought she would die'

Anya was born in July 2017.
When she was just 10 weeks old, she had her first experience of Alternating Hemiplegia of Childhood (AHC).
The condition causes "episodes" similar to epileptic seizures, but also has symptoms similar to stroke, paralysis and Parkinson's disease.
The episodes can happen at any time.
Katherine and Anya Behl
Image captionKatherine Behl thought 10-week-old Anya was going to die during her terrifying first episode
Mrs Behl, a doctor, told BBC Scotland's The Nine that the first one was terrifying: "At ten weeks old life just stopped.
"She was in bed with us - she was loving tummy time in the mornings. Suddenly she did this terrible, really heart-wrenching scream.
"We turned her over and my husband said her eyes were twitching. I had a quick look at them and it was obvious something really bad was happening.
"Her eyes were just flickering to the side and rolling and she was looking really vacant. She started getting really rigid in her spine. I thought she was having a seizure.
"It lasted about three minutes. We were getting ready to go to hospital. Then it happened again in the house.
"On the way on the car it started again. She did a scream and I thought she was having a stroke.
"I thought she was going to die."
Abhishek, Katherine and Anya Behl
Image captionAbhishek and Katherine have decided to make the most of each day while they try to help fund research into treatments

What is AHC?

AHC is caused by mutations in the ATP1A3 gene.
Sufferers experience repeated, though short-lasting, attacks of hemiplegia - paralysis of a portion of the body.
This ranges from numbness to full loss of feeling and movement.
Attacks or episodes may last for minutes, hours, or even days. Sleep can relieve the symptoms.
If the autonomic nervous system - which controls body functions such as breathing or the heartbeat - fails, AHC can cause sudden death.

Neurological symptoms

Many more episodes and many tests followed at the Royal Hospital for Sick Children and in February 2018 Katherine and her husband Abhishek learned from genetics results that Anya had the one-in-a-million condition.
Mrs Behl explained: "It involves lots of neurological symptoms and some experts describe it as many conditions in one. It is not inherited it is just by chance.
"Along with neurological symptoms which can be tremors, weakness, paralysis, eye movements, speech problems, painful rigidity, it causes other non-neurological problems - breathing, heart and developmental problems."

'Enjoy each day'

Mr Behl says it is sometimes a case of one step forward, two steps back.
After each episode, some skills can be lost. Things she has learnt can be lost because of her condition.
Mrs Behl said: "Last May, she lost her head control, went floppy like a new born. She had to re-learn that all over again."
Anya Behl
After spending months just waiting for the next episode to happen, the family decided they had to move on.
Mrs Behl said: "You can't live like that waiting for each episode to come so we just try to enjoy each day as it comes and we live in hope each day will go well.
Because the condition is so rare, there is little research and treatment.
The only drug she takes has so far been unable to stop the episodes.
The family are now fundraising to help pay for pre-clinical trials into the condition with the support of several AHC foundations in the US.
They hope this could mean a brighter future for their one-in-a-million girl.
Link to BBC News 



Anya Behl

Our one in a million daughter Anya on BBC Scotland at Nine. Sharing the video

Also attaching the JustGiving page link for people wanting to make a contribution.

Do leave a comment and have your say.

Thank you so much.