AHC.is

AHC samtökin óska eftir styrkjum

siggi — Fri, 18 May 2012 23:47:07 +0000

Sunna´s paralyzing truth

siggi — Fri, 11 May 2012 02:14:31 +0000

Interview with Sunna´s parents in Fréttatiminn on May 11th 2012 by Gunnhildur Arna Gunnarsdóttir. The article is about the reality of living with AHC and how hard it can be to raise funds to research rare diseases. There is also an interview with Sunna´s friend Ólafur Darri who is Icelands most beloved actor. He tells the journalist how wonderful he thinks Sunna´s brother Viktor handles his role in being a brother of a child with a rare disease.

INTERVIEW

Lamandi veruleiki Sunnu litlu

siggi — Fri, 11 May 2012 02:09:36 +0000

Gunnhildur Arna Gunnarsdóttir tók við foreldra Sunnu Valdísar. Fréttatíminn 11 maí 2012

FRÉTTATÍMINN

International collaboration on AHC research will give us impressive result very soon

siggi — Wed, 09 May 2012 13:42:30 +0000

Dear families,
Both sides of the Atlantic, Genetic research on AHC is going on with the aim to identify possible genetic mutations that were responsible for causing AHC..
The American AHC foundation AHCF is supporting several research groups in USA, and as you’ve been already informed, a European consortium gathering 3 genetic research groups (Italy – France – Netherlands) started a collaborative work by using samples kept in the Italian and French Biobanks, with the financial and logistic support of the French and Italian patient associations.

American and European research groups joined recently their efforts in a unique international project, thanks to a collaboration agreement, with the lead of an American genetic group; this collaborative effort caused an impressive progress of the research towards the finding of the genetic cause of AHC.

The scientific publication of this research is in progress and until then, none of the involved patient associations is authorized to give any specific information about it.
We hope that you will understand that, although we all would really love to share with you all the details of this research, at the same time we don’t want to endanger its publication among the scientific community thus compromising its value and its efficacy in producing further research.

As announced by AHCF, the details of the research will be presented by the leading team to the families attending their meeting in San Francisco (28 June – 1 July). Soon after that, we will ask geneticists from the European consortium, involved in this collaborative project, to prepare a written communication dedicated to European Families so that you receive the complete information and answer to main questions as about what could be next steps of the research.

In the meanwhile, the collaborative work of all the involved research groups is going on even more hardly, to exploit the results of this research, so that we hope to receive soon all the definitive answers about the genetic origin of AHC.
For this, it is important, now more than ever, that all the families support the work of the researchers by increasing their efforts in the fundraising and in the participation to the research, mainly through the Biobanks and the Clinical Registries.

We join AHCF in looking forward to sharing more information with you all and thank them for the continued collaboration in the support to the research.
Many thanks and best wishes to you all.

Rosaria Vavassori, A.I.S.EA
Dominique Poncelin, AFHA

Icelandic description on AHC by Dr. Solveig Sigurðardóttir, mars 2012

siggi — Thu, 26 Apr 2012 13:43:50 +0000

The Icelandic description on Alternating Hemiplegia was done by Dr. Solveig Sigurðardóttir who was assisted by Sigurður Hólmar Jóhannesson, president of the AHC association of Iceland.
Icelandic AHC description

WHERE ARE THE PARENTS?

siggi — Sat, 21 Apr 2012 20:45:11 +0000

Where are the parents?

They are on the phone to doctors and hospitals and fighting with insurance companies, wading through the red tape in order that their child’s medical needs can be properly addressed.

They are buried under a mountain of paperwork and medical bills, trying to make sense of a system that seems designed to confuse and intimidate all but the very savvy.

Where are the parents?

They are at home, diapering their 15 year old son, or trying to lift their 100 lb. daughter onto the toilet. They are spending an hour at each meal to feed a child who cannot chew, or laboriously and carefully feeding their child through a g-tube. They are administering medications, changing catheters and switching oxygen tanks.

Where are the parents?

They are sitting, bleary eyed and exhausted, in hospital emergency rooms, waiting for tests results to come back and wondering: is this the time when my child doesn’t pull through? The are sitting patiently, in hospital rooms as their child recovers from yet another surgery to lengthen hamstrings or straighten backs or repair a faulty internal organ. They are waiting in long lines in county clinics because no insurance company will touch their child.

Where are the parents?

They are sleeping in shifts because their child won’t sleep more than 2 or 3 hours a night, and must constantly be watched, lest he do himself, or another member of the family, harm. They are sitting at home with their child because family and friends are either too intimidated or too unwilling to help with child care and the state agencies that are designed to help are suffering cut backs of there own.

Where are the parents?

They are trying to spend time with their non-disabled children, as they try to make up for the extra time and effort that is critical to keeping their disabled child alive. They are struggling to keep a marriage together, because adversity does not always bring you closer. They are working 2 and sometime 3 jobs in order to keep up with the extra expenses. And sometimes they are a single parent struggling to do it all by themselves.

Where are the parents?

They are trying to survive in a society that pays lip service to helping those in need, as long as it doesn’t cost them anything. They are trying to patch their broken dreams together so that they might have some sort of normal life for their children and their families. They are busy, trying to survive.

AHC samtökin styrkt af The Vaccines – Frétt á mbl.is

siggi — Mon, 16 Apr 2012 18:42:55 +0000

HÉRNA er hægt að sjá fréttina

Alternating hemiplegia of childhood in Chinese following long-term treatment with flunarizine or topiramate.

siggi — Mon, 16 Apr 2012 17:36:25 +0000

Abstract
Abstract Objective: Alternating hemiplegia of childhood (AHC) is a rare and intractable disorder. The etiology and standard therapy of alternating hemiplegia of childhood remain unknown. The long-term effects of flunarizine or topiramate on patients with alternating hemiplegia of childhood are still not clear. Methods: Fifteen patients were investigated in this study. Their neurological disturbance and mental retardation after drug therapy were evaluated. Results: Nine patients treated with flunarizine therapy and three children with topimarate treatment presented with shorter duration or less frequency of the hemiplegic attacks. These drug responsive patients also showed improvements on neurological disturbance including eye movement disorder, choreo-athetotic movements, dystonia and ataxia. However seizure episodes and cognitive impairments were not alleviated in AHC with long-term drug therapy. Conclusions: The findings from the present study support flunarizine or topitamate as the rational treatment for alternating hemiplegia of childhood.

http://www.ncbi.nlm.nih.gov/pubmed/22494152

Hunter Wagner

siggi — Sun, 15 Apr 2012 23:26:35 +0000

A video showing Hunter Wagner in physical therapy at “Now I can”

Hunter is an amazing boy 4 1/2 years old and is a special friend.
HERE is the video

The saga of Sunna

siggi — Sun, 15 Apr 2012 13:47:13 +0000

Sunna Valdís is the daughter of Sigurður Hólmar Jóhannesson and Ragnheiður Erla Hjaltadóttir. This is her short STORY