Living With A Mentally Disabled Sibling

It’s a world just a handful of us exist in, and few outsiders understand. A world so miniscule even grandparents or uncles do not fully grasp what goes on under our roof. A world so complicated that I will never entirely understand what my parents go through or what they feel, and they will never entirely understand what I go through or what I feel. I’m just here to share my perspective of the world I live in.

Despite the 6-year age gap between my older sister and I, I have embodied the “big sister” persona in our family. I don’t recall exactly when I really made the transformation from “little sis” to “big sis” but it was probably sometime in my elementary school days, when my academics, my emotions, and even my ability to do the tasks that have become second nature to us all (such tying shoes) greatly surpassed those of my sister. As each year passed by, and more and more milestones were piling up for my sister to complete, I began to recognize that this life, this family, this situation meant our lives would be shifted, and focused in on my sister.

Ashley

Alternating Hemiplegia of Childhood, or AHC for short is a rare neurological disorder that causes my sister to have episodes (which we call “spells”) of paralysis. There is no warning, no flashing red light of danger, and no siren to give us clue as to when this unwelcomed disorder creeps up and traps her inside her own body. There is no timer, no countdown, and no hourglass to inform us when it will end, when we can hit the “play” button on our lives again. There are triggers, and sparks that expedite her spells. The beach is a trigger. Water is a trigger. Excitement is a trigger. Loud noise is a trigger.

Until I left for college, our family operated as one whole unit, with my sister’s disability as the controller. It controls my mom, who sacrificed her passion and her work to care for my sister 24/7. It controls my dad, who works hours longer than anyone ever should to provide for us all. And it controls me, in ways I didn’t even realize until recently, but mainly it controls me emotionally. When you’re 6 years younger than your sibling, and suddenly the older sibling role is thrown at you, you have no choice but to face it. No choice but to mature at a faster pace than your peers around you are. I was exposed to different hospitals, doctors, neurologists, specialists, prescriptions, and ambulances from the time I was 4. I could describe my sister’s medical condition in detail by the age of 10, and better than the majority of neurologists could, considering almost all of the neurologists my sister has been to, have never even heard of AHC. We jumped from hospitals to doctor’s offices to specialists with a typed letter in hand- informing them of what they were supposed to help fix.

Not only mentally did I grow up faster in this situation, but emotionally as well. Emotions I didn’t know how to process when I was so young, emotions that I thought weren’t okay for me to feel. How could I think such negative things of my own sister, when my life is breeze compared to hers? If my sister would sing in public (her biggest passion) I would feel a twinge of embarrassment begin in the pit of my stomach, and snap at her to shut up. Thoughts of “Did I really just say that?” “She can’t help herself Ashley.” “How could you do that to her?” rushed into my head, and my face grew hot and deep red. Then I’d apologize immediately and tell her to belt her heart out. If she would go into a spell in public, neck locked up, head shaking, moaning in pain, I’d be torn. My emotions tended to always split halfway here. There were times when I would act as if I didn’t know my family, and not help my sister in her time of need. It was too embarrassing, too stressful, too much attention and I just wanted us to blend in. Then, I’d do a complete 180, and I’d be overly helpful, and maybe too aggressive towards strangers. I’d glare at them. I’d make snide remarks under my breath about how adults should teach their kids not to stare. I’ve even asked people if they wouldn’t mind me staring at them with a disgusted smirk and gaping mouth. You can imagine their reactions to my comments were less than enthusiastic, yet they seemed perfectly fine doing all of that to my sister.

Britt and Ashley

Over the past 5 years, I’ve been working on not letting this control my emotions so intensely. There are times when yes, I’m still embarrassed by my sister. There are times when I get angry and frustrated with her. But don’t we all go through ups and downs with our siblings, regardless of their physical and mental state? Don’t all sisters fight? Don’t all sisters want the attention to be on them and NOT their sister? (We are girls, after all). It’s been a lengthy and tough road to get where I am today. Where I realize it’s more than okay for me to feel everything I’m feeling. But as the “other sibling” in these special types of families, people who don’t understand, people who are outsiders will tell you that your feelings don’t matter, only your siblings do. And that it’s wrong for you to think or feel anything but positive things about your sibling and your situation. They will tell you that the focus isn’t on you. They will tell you that your sibling is more important. Trust me when I say we (the ones with disabled siblings) fully understand that there are certain medical, whether it be mental or physical, needs that our siblings have, and we do not. But needs don’t value our importance as humans, as daughters, as siblings.

And to my loving sister, thank you for constantly being the biggest supporter in my life. You have never once stopped encouraging me to follow my dreams of pursuing theatre and writing. You’ve been cheering me on since day one, and I wouldn’t want anyone else by my side in this crazy journey we call life. Keep singing, Britt. Sing so the whole world can hear your voice.

Ashley DeLuke

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INTERNATIONAL RESEARCH CONSORTIUM IAHCRC Press Release – 28 November 2014

IAHCRC

Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disease (one affected individual in a million), caused by specific groups of mutations in the ATP1A3 gene.

Rapid Onset Dystonia Parkinsonism (RDP) and, recently, a new syndrome (CAPOS) have been recognized involving other mutations of the same gene.
All these conditions are very rare and partly overlapping in their neurological manifestations. Common pathogenetic mechanisms could be involved.
The International Consortium IAHCRC, for the research on AHC and other ATP1A3 related rare diseases, was formed in 2012 to carry out a collaborative research that led to the identification of the ATP1A3 gene as the main cause of AHC (Heinzen et al., Nature Genetics, July 2012).

The Consortium involves clinicians, geneticists and researchers working at University centers in Europe, USA and Australia; it operates in close collaboration with health professionals and patient organizations, most of whom were already involved in the EU-funded projects “ENRAH for SMEs” (FP6, 2005-2007) and nEUroped (PH, 2008-2011). Its European branch was represented at the recent meetings organized by the European Commission for the creation of European Reference Networks.

Prof. Alexis Arzimanoglou describes the origins of the IAHCRC Consortium at the Second Symposium on ATP1A3 in Disease (Rome, 23 – 24 September 2013)

Prof. Alexis Arzimanoglou describes the origins of the IAHCRC Consortium
at the Second Symposium on ATP1A3 in Disease (Rome, 23 – 24 September 2013)

In 2013 the Consortium launched a new collaborative study GPC-AHC, directed by Prof. Alexis Arzimanoglou and Doctor Eleni Panagiotakaki (FR), aimed to identify possible correlations between the clinical phenotype associated with AHC and mutations in the ATP1A3 gene, with the goal to investigate whether different mutations can, in part, be responsible for the clinical heterogeneity observed in the disease. The data were collected from the largest international cohort of AHC patients to date (155 patients), and the results of their analysis are now submitted for publication.

Another study ECG-AHC, coordinated by Prof. Sanjay Sisodiya (UK), on some dysautonomic features of AHC, including 55 patients, is also submitted for publication.

Further collaborative studies, clinical, genetic and molecular, are currently in progress by the centers of the Consortium.

The objectives of the IAHCRC Consortium are the active contribution to the collaborative study of the pathogenetic mechanisms of the ATP1A3 diseases and the development of effective treatments. In close collaboration with patient associations, but also European and international networks, the IAHCRC will contribute to the promotion of a better care for all the affected patients, by developing specific standards for the diagnosis and the management of the diseases and by disseminating the information.

Last October 22nd, 15 founding member centers officially constituted the Consortium, through the approval of the IAHCRC Charter; the Charter contains a set of rules for the functioning of the Consortium and for the sharing of the information and patient data for its collaborative studies.

Last October 22nd, 15 founding member centers officially constituted the Consortium, through the approval of the IAHCRC Charter; the Charter contains a set of rules for the functioning of the Consortium and for the sharing of the information and patient data for its collaborative studies.

AHCF funds next phase of Vanderbilt Grant

2014 Molecular Physiology and Pharmacology of ATP1A3 Mutations in AHC

The Alternating Hemiplegia of Childhood Foundation is pleased to announce that we have partially funded phase three of a research grant awarded to Dr. Kevin Ess at Vanderbilt University and Dr. Alfred George, Jr. at Northwestern University in the amount of $140,807.00.  They will continue their work to determine functional and biochemical consequences of the three mostEss:Simmons in lab#1common gene mutations causing AHC. They will also continue to identify drugs or drug-like compounds through a drug screening program that are capable of restoring normal ATP1A3 gene function. Finally, they have made induced pluripotent stem cells (iPSCs) derived from AHC patients.  These again include the three most common gene mutations causing AHC.  These patient derived stem cells will be used to investigate electrophysiological abnormalities of neurons and to test whether compounds they have identified can restore ATP1A3 function in human cells.

 

 

The second half of phase three is due to be awarded in January, 2015. To date we have invested $404,496.00 and continue to explore all avenues of funding to avoid a cessation of the research that is drawing us ever closer to a viable treatment.

Quote from Dr. Ess:

Ess lab #3‘We are extremely honored to continue our work with the Foundation and its membership. This is a very exciting phase of discovery for everyone connected to AHC and is critical to expand our knowledge of ATP1A3 function and to seek new treatment strategies. The very generous donation by the AHCF will enable us to determine mechanisms used by specific ATP1A3 mutations that cause AHC. We will continue our success from last year by identifying novel potential drug therapies that can correct the defect caused by specific ATP1A3 mutations. Notably, we are using human cell lines including induced pluripotent stem cells (iPSCs) that harbor ATP1A3 mutations. Our experiential approach was designed to most quickly identify disease pathways as well as potential therapeutics that can help those afflicted with AHC.

 

AHC fundraisers and awareness to new heights

6 years ago you could hardly find an article on Alternating Hemiplegia of Childhood and you could certainly not find videos or educational material on the condition.
Today however awareness is reaching new heights where you can find a lot of videos on YOUTUBE about AHC. You can find many articles and educational material.

Also the parents and friends all over the world are raising funds to expedite research.

Here are a few samples of events that these amazing parents and friends are doing worldwide

 

AHC Chicago walk

AHC Chicago walk

 

 

Swimming the English Channel for AHC

Swimming the English Channel for AHC

 

 

Screenshot 2014-09-25 14.35.06

Dance party

 

 

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Chicago Walk

 

Womanless beauty pagent

Womanless beauty pagent

 

Make a wish foundation

Make a wish foundation

 

I love beer run for AHC

I love beer run for AHC

 

Jeans for Genes

Jeans for Genes

 

Hope for Connor

Hope for Connor

 

AHC golf

AHC golf

We hope to continue to raise awareness and funds so that we will find a cure for AHC

Alternating Hemiplegia of Childhood Ireland (AHCI).

AHC Ireland just opened a new website.

Screenshot 2014-09-06 17.40.37

Welcome to the website of AHCI, Alternating Hemiplegia of Childhood Ireland. Alternating Hemiplegia of Childhood (AHC) is a rare neurological disorder which affects approximately one in every one million children worldwide. Children affected by AHC suffer repeated attacks of hemiplegia (paralysis) that can affect one or both sides of the body. The attacks may last for minutes, hours or even days.

The aim of this website is to act as a resource for families affected by AHC in Ireland and also as a contact point for families affected by AHC worldwide. If you would like any more information on Alternating Hemiplegia of Childhood please feel free to get in touch at info@ahci.ie

Article about the making of AHC documentary in Umhyggja magazine

In the newest edition of Umhyggja Magazine there is an article about the AHC documentary.
“Preparations for the AHC documentary are finished and filming has already begun. The documentary will be filmed in Iceland, the US and in the Nederlands and we estimate to stop filming coming October.

The Documentary will review the history of AHC from when the disorder was first discovered in 1971 and we will follow the life of Sunna Valdis who is the only AHC champion in Iceland. We will follow Sunna in her daily life and watch the effect AHC has on Sunna and her family. The film crew will follow Sunna to Minneapolis. MN, where she will meet some of the best AHC specialists in the world. The documentary will contain interviews with the specialists and with families that have been fighting for a cure for AHC.

Heimildarmynd-umhyggja

The Documentary will be around 40 minutes and will be translated in at least 8 languages.
The producers will distribute the film all around the world and also send it to film festivals.

Sigurdur Holmar Johannesson president of the AHC Association of Iceland and Sunna´s father says tells us that the main purpose of the film is to raise awareness and find the undiagnosed AHC champions in the world that may be as many as 7000 so that they may receive best possible care.
“We desperately need to expedite the research in order to find cure”

Third Symposium ATP1A3 in disease

This third ATP1A3 meeting is a follow-up of the 2012 meeting in Brussels (www.enrah.net) and the 2013 meeting in Rome (www.symposium-atp1a3.tk).

Netherlands

Friday, August 29th 2014

16.00-22.00: ATP1A3 Meeting registration & hotel check-in
20.00-22.00: Official opening of the Symposium and patient’s organisation information evening

Saturday, August 30th 2014

8.30-12.00: Genetics of ATP1A3 pathologies
15.00-17.30: Clinical aspects of ATP1A3 pathologies
18.00: Joined program with the 14th International Conference
Na,K-ATPase and related transport ATPases: Structure, mechanism, cell biology, health and disease.

Sunday, August 31st 2014
Joined program with the 14th International Conference
Na,K-ATPase and related transport ATPases: Structure, mechanism, cell biology, health and disease.
08.30-12.00: Physiology, Medicine and Therapy
14.00-16.00: Physiology, Medicine and Therapy
17.00: Departure
Program Committee
Chairs: Jan Koenderink and Thomas Friedrich
David Goldstein
Tsveta Schyns
Arn van den Maagdenberg

Sponsors
The sponsors of the third symposium are the AHC organisations ACHA, AFHA, AHCAI, AHCF, AHC-Deutschland e.V., AHC Vereniging Nederland, AESHA, A.I.S.EA Onlus, Cure AHC and AHCUK

ENRAH is acknowledged for supporting the organisation of this symposium.

Symposium Registration
Registration for the Symposium is open from 15 April 2014.
Please note, that there is an “early bird” reduced registration fee before May 27 June 8, 2014 (see below).
Cancellations received before 31 July 2014 are subject to a charge of 25% of the registration fees for reservation costs. After 31 July 2014 full payment will be requested and refunds will not be provided. Transfer of the registration to other persons is at no extra cost.

Registration Fee
The registration fee covers the Symposium abstract book, coffee breaks and lunches on Saturday and Sunday, 30 and 31 August , and dinners on Friday and Saturday, 29 and 30 August 2014.
Hotel costs are not included. However, we made reservations (to reduce the costs) and will send you an offer as soon as the early bird registration closes (May 27 June 8, 2014).

Standard, 550 euro.
Reduced Registration Fee 370 euro *.
Reduced Registration Fee 230 euro * / **.
* For health professionals and non-profit organisations registered before May 27 June 8, 2014
** For registered participants in the 14th International Conference Na,K-ATPase and related transport ATPases: Structure, mechanism, cell biology, health and disease.

Registration
For registration, please note that this requires two steps:
- First, fill out the registration form: Registration and Payment.
- Second, send the completed attached form. Please note, that registration is only complete when confirmation of payment has been received.

Abstract Submission
Oral abstract submission deadline: May 27 June 8, 2014.
(must submit by this date to be considered for a talk)

Final poster abstract submission deadline: July 21, 2014.

Abstract submission guidelines:
• Abstract title field allows a 200 character maximum.
• Abstract body field allows for a 350 word count maximum.

To submit an abstract via the EasyChair system, please follow the link Abstract Submission.
If you do not have an EasyChair account, the system will first ask you to generate a personal EasyChair account. Once this is account created and confirmed (by clicking a link sent by E-mail from EasyChair), you are easily directed to the ATP1A3-2014 Head-page. By clicking the button “New submission” you can enter and submit an abstract.

Should you have questions or need support for abstract submission, please, contact atp1a3@p-atpases.org

Jan Koenderink and Thomas Friedrich