GLOW OF HOPE

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" If I were damned if body & soul, I know whose prayers would make me whole, Mother o' mine, O mother 0' mine " 

"Rudyard Kipling"

Mother - that selfless, ever-loving, undemanding person has all the good wishes and prayers for her child. No matter how old a mother is, she watches over her children like only god can, sometimes god's ways can be questioned but not a mother's. Even her middle-aged children are constantly being advised whether they like it or not. More than often we resent it because we think that we are grown up enough and surely we are above that age when we have to be taught what is right or wrong. When their children are concerned mothers do not think with their mind; they think with their heart - without any discrimination - with tremendous feeling of love.  

How much we take our mothers for granted!  This realisation dawned on me only when I lost my mother a few months back - a terrible personal tragedy, which is hard to forget.  When I saw her lying on the life support system, so helpless, so weak  - the person who was my strength was now totally devoid of all her strength - my heart went out to her - all the moments of my childhood & growing up years came flashing back. 

How I wished she would wake up and be there beside me - even without saying anything - her mere presence made me so secured and cocooned like a bird in her nest. Now when she is gone I long for that caress - those hugs - those loving hands forever on my back - her tremendous support whenever I needed it. She would instinctively know those moments of my needs, my pain. 

woman standing beside girl during daytimeHow i wish I had given her a lot more hugs, why didn't I tell her again and again how much I loved her - How Abhishek, my son while boarding the plane onto his journey to the UK for higher studies kept saying  - "if today Nanima was alive she would be so happy for me". There are so many things unsaid and undone - but those are the only wishful thoughts which would never be fulfilled now .....


To quote a few lines I read somewhere that touched my heart  "Take my advice should your respect and love to her now. Hurt anyone you choose but never your mother. The day she departs from this world that will mark the end of your experience with true selfless love. You will be left only with the memories, nostalgia and pain. As you become more and more involved with your life even that memory will fade till ...... till you yourself become a mother. Then you would realise how she bore the discomfort of carrying you for nine months, excruciating pain bringing you to this world, spent sleepless nights feeding you, she nursed your fevers, cooked only what you liked forgetting her own, her whole world was you till the end of her life. So treat her with kindness now when she is still there ---------- older, fragile and more sensitive to hurts. "

No matter what the provocation or reason, never ever belittle her, never raise your voice with her and never ever question her love for you, for her love for you is unique it is selfless and forever forgiving. If you want to say anything to Ma, say it now - make amends for something you have done - or what you should not have done - give her a hug and say sorry and ask to be forgiven. If you want to tell her that you love her - say it now - do not leave it for tomorrow. For tomorrow never comes .......... and you will be left repenting  "If Only" 



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This article was written by Anju Behl and was published in The Camellia Tea Planters' In-House Club Magazine for the Apr - June 2014 edition.  

Yes people, It is finally here and we are working on sending out updates to various people about Alternating Hemiplegia of Childhood UK via a newsletter and the chair's update. 



If you would like to be involved and to be kept informed about the various updates that are happening with AHC in the UK and all over the world - Please sign up to the new AHC UK Newsletter for updates ( Click on & add your name/email on this attached link :

We look forward in sharing our updates with you all.

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/  
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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 

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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

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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!