Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

Orphanet Journal of Rare Diseases201611:55

Received: 21 September 2015 Accepted: 25 April 2016 Published: 4 May 2016

adenosine
Abstract

Background
Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5′-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia.

Methods
A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5′- triphosphate supplementation orally as an innovative therapy for 2 years. Outcome was evaluated through the follow-up of improvement of hemiplegic episodes and psychomotor development. Side effects and safety were monitored in regularity.

 

Results
With the dosage of adenosine-5′-triphosphate administration increased, the patient showed significantly less frequency and shorter duration of hemiplegic episodes. Treatment with adenosine-5′-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. The maximum dose of oral administration of adenosine-5′-triphosphate reached 25 mg/kg per day. Adenosine-5′-triphosphate therapy was well tolerated without complaint of discomfort and side effects.

Conclusions
The 2-year follow-up outcome of adenosine-5′-triphosphate therapy for alternating hemiplegia of childhood was successful.

http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0438-7

Viðtal við Laufey Ýr Sigurðardóttir taugalækni

Viðtal þetta var tekið árið 2014 í tengslum við gerð heimildarmyndarinnar Human Timebombs.

.
Laufey Ýr var taugalæknir Sunnu Valdísar og þar til hún fluttist til Florida og greindi hana árið 2007 þegar Sunna var 14 mánaða.
Sum börn greinast ekki fyrr en eftir mörg ár og eru tilfelli þar sem einstaklingar eru að greinast með AHC á fullorðinsárum.

 

AHC samtökin ráða markaðsstjóra

AHC samtökin kynna með stolti nýjan markaðsstjóra, Ágústu Fanney Snorradóttir.
Agusta Fanney 1
AHC samtökin og Ágústa Fanney hafa um árabil átt gott samstarf en Ágústa Fanney hefur leikstýrt stuttmyndum um AHC og nú síðast heimildarmyndinni Human Timebombs sem frumsýnd var í desember síðastliðnum.

Ágústa Fanney Kvikmyndagerðarkona útskrifaðist árið 2013 úr kvikmyndagerð og sjónvarpsframleiðslu í Collage of the Canyons í Kalíforníu.

collage of the canyons
Collage of the Canyons

Hún hefur unnið í hinum ýmsu verkefnum fyrir sjónvarp og kvikmyndir jafnt í Bandaríkjunum sem og á Íslandi.  Ágústa Fanney starfaði einnig sem tökumaður hjá sjónvarpsstöðinni SCVTV í Los Angeles

Við bjóðum Ágústu Fanney velkomna til starfa og hlökkum til samstarfsins á komandi árum 🙂

Eliot’s Journey

From pseudo-tumor to Alternating Hemiplegia of Childhood (AHC)

This is Eliot Liam’s path through life as a short summary.

Eliot
Eliot

Eliot Liam was born in December 2010. At the end of December everything began to get a little difficult. Eliot screamed and screamed and didn’t stop. All there was for him was screaming, eating and sleeping. Furthermore he NEVER never lay still and his arms and legs were constantly moving. His pediatrician at the time just kept saying „Well, you just have a screamer baby, you have to cope with it“ or „When you get a bit calmer yourself your child will also get calmer“ and so on.

We were very unsure, but immediately recognized that something wasn’t right.

When he was 3 months old, I woke up one night (Eliot was in bed between us) and noticed immediately, that something was wrong. Eliot was lying there completely still (which he NEVER did while he was awake) and his eyes kept rolling up and down. This went on for about 10 minutes. The Pediatrician said that this was a perfectly natural phenomenon called „Greeting the Sun,“ and nothing to worry about. Eliot did this 2-3 times more, as far as I noticed. For me this was never „normal.“

As Eliot was still screaming a lot when he reached 3 months of age, and his development wasn’t going the way I was seeing in other children, we started to get more nervous. Eliot was cross-eyed to the outside, did not reach out to things, didn’t look at us and never smiled etc.

At this point we insisted (and we really had to fight for it) that Eliot’s eyes would be examined. The appointment for the eye exam happened when he was 5 and a half months old. The head doctor looked at his eyes and told us „You will drive directly to the University Hospital. I will refer him as an emergency. There is a suspicion that he may have a brain tumor, as your son has increased pressure in the pupil!“

After 2 and a half weeks of countless examinations (MRT, CT, Ultrasound, EEG) they did a lumbar puncture and found that Eliot was suffering from a pseudo-tumor Cerebri (excessive production of brain fluid.) He must have spent the first months of his life with terrible headaches and without really being able to see or hear anything much.

From that point on the screaming issue was a little better, but his development was still very delayed to the point where it was finally considered impaired. His motor skills are getting better, but anything requiring fine motor skills is very difficult. He does not talk and is hypotonic around the girth / loin area. He is farsighted, has sensory disorders and appears to be mentally handicapped.

When he was about 3 years old, he suffered the first paralysis attack that we properly noticed. Eliot collapsed on one side completely. We immediately informed the pediatric neurologist and he was taken to hospital. After more days of tests with EEG and MRT and so on he was discharged after about 5 days, without anything having been found. (He was well again at that point.)

As his paralytic attacks were becoming more frequent, and were interrupted by episodes of sleep or very deep and sustained quietness, our pediatric neurologist got together with a specialist for epilepsy and together they searched for illnesses which could fit the symptoms.

So this is how, today, we received the diagnosis AHC, but in his case it is a variant of the mutation which has not been documented in this form previously

Eliot is a happy, cheeky and funny little man, who wraps everyone around his little finger 🙂

The picture is about 1.5 years old now, but apart from the fact that he has grown he hasn’t changed.

– See more at: https://www.rareconnect.org/en/community/alternating-hemiplegia/article/eliot-s-journey#sthash.sgk7fYk6.dpuf

Jean Aicardi (8 November 1926 – 3 August 2015)

Dr. Jean Aicardi

Professor JEAN AICARDI is well known as one of the most distinguished and respected pediatric neurologists of any time.

Dr. Aicardi was the first neurologist to describe Alternating Hemiplegia of Childhood, AHC.

He had obtained the MD degree from Faculté de Médecine, Paris in 1955. He was research fellow in Harvard Medical School (1955-1956) and back in France he was Assistant Physician at Hôpital des Enfants Malades Paris (1957-1964) and Assistant Physician at Hôpital Saint-Vincent de Paul, Paris, (1974-1979). He was also Maître de Recherche (1969-1986) and Directeur de Recherche (1986-1991) at Institut national de la Santé et de la Recherche Médicale (INSERM). From 1992 to 1998 he was Honorary Professor of Child Neurology at Institute of Child Health, London UK.

Symposium 1997

He has obtained many Academic Honours and Distinctions: Cornelia de Lange Medalion (Dutch Child Neurology Society). Fellow royal College of Physicians (London). Honorary Fellow of the Royal College of Paediatrics and Child Health. Hower Award (US Child Neurology Society). Distinguished Investigator award (Milken award) (American Epilepsy Society). Honorary Member American Neurological Association. Ramon y Cajal Award (Iberoamerican Academy of Child Neurology). Peter Emil Becker Award (German Child Neurology society). Honored Guest The XXth Cleveland Clinic Meeting Cleveland USA, 2002. Honorary Member, European Paediatric Society,Göteborg, Sweden 2005).

He was author or coathor of many outstanding textbooks of the specialty: Diseases of the nervous system in childhood, 1st Edn 1992, 3rd Edn 2009 Epilepsy in children, 1st Edn 1986, 2nd Edn 1994, (Mac Keith Press and Cambridge University Press) 3rd Edn (With Arzimanoglou and Guerrini,) 2003,Philadelphia, Lippincott Epilepsy. A Comprehensive Textbook Edited by J. Engel Jr & T.A. Pedley 1998, 2nd Edn 2008 (Associate Editor with M. Dichter, U. Heinemann, S.Moshé, R.Porter & D.Taylor) Movement Disorders in Children (with E. Fernandez Alvarez), 2001, London, Mac Keith Press Movement Disorders and Epilepsy in Children 2002 ( Editor, with R.Guerrini, F.Andermann and M. Hallett)

He was Editor in Chief (1994-2004) and Founding Editor of the journal Epileptic Disorders besides being member of the Editorial Board and reviewer of many other journals like Neuropediatrics, Brain and Development, Pediatric Neurology, Journal of Child Neurology, Epilepsia, lancet neurology and Brain. Author of more than 260 articles in international peer-reviewed Journals and 110 chapters in books. He has described for the first time many neurodegenerative diseases of childhood and two disease were named after him Aicardi syndrome and Aicardi-Goutieres syndrome.[2] Aicardi syndrome only affects females, and in very rare cases, males with Klinefelter syndrome (XXY).

See also

Epilepsy world leaders to remember

Sunna with friend and actor Ólafur Darri Ólafsson in Independent people

Sunna and Darri

Ólafur Darri was a guest on the Icelandic television show Independent people, a show where Icelandic persons that excel in their profession are interviewed. Ólafur Darri just won best actor awards at Eddan (Icelandic Oscars) and is presently working with Hollywood stars like Liam Neeson in the movie A Walk Among the Tombstones and also with Matthew McConaughey  and  Woody Harrelson in the TV series True Detectives. Darri tells Jón Ársæll how he and Sunna became friends, Sunna started to collect pictures of Darri from the newspapers and clued them on a pink cardboard that she wanted to take with her where ever she went. It escalated so that she wanted to have him over for coffee.  Sunna´s father then called Darri and told him that his daughter was a kind of a „stalker“ and that she wanted to invite him over for coffee and pastries. Darri accepted the offer and from that moment they have been friends.
Darri tells about his need to help Sunna this year by dedicating his 40th birthday to her, he is thinking about charging family and friends admission to come to his party;)
He also is determined to run in the Reykjavik Marathon this August for Sunna. Sunna is not confident that Darri will run the marathon but we will see how that goes;)

Here is a clip from the TV show Independent people that shows the wonderful chemistry between them.

Matthew McConaughey