Tag: AHC

Birt þann

Sue Freckington supports Sunna

 

Sue Frecklington from Skellingthorpe, Lincolnshire, England, supported the AHC Association of Iceland by 500 GBP this week.

Sue has been raising sponsorship for AHC association of Iceland this year through her BIKE TO ICELAND challenge.

Sue Frecklington

 

Sue (born 1948) made it her mission to bicycle from Skellingthorpe to Garðabær and has been collecting pledges along the way.

Of course she did not actually bicycle to Iceland as the Atlantic ocean would make that a bit difficult but she rode the same mileage as a straight line from Skellingthorphe to Gardabær or 1076 miles

This is the second time Sue donates to AHC Association of Iceland and we thank her from the bottom of our hearts 3>

Birt þann

6th Symposium ATP1A3 in Disease – Tokyo japan

From the Organising Committee of the 6th Symposium ATP1A3 in Disease:

Our special thanks to the Organising Committee of the 6th Symposium ATP1A3 in Disease, chaired by Dr Masayuki Sasaki, for making the 2017 annual meeting a great success. The Tokyo event was attended by over 107 people and included some excellent presentations with new research and unpublished data. Thanks very much for all contributions!

We are also very pleased to announce that the next Symposium on ATP1A3 in Disease will take place at the Northwestern University Medical Center, Chicago, Illinois USA on October 13th and 14th (Saturday to Sunday) 2018.

The Organising Committee includes Allison Brashear, MD (Wake Forest Medical Center), Al George, MD (Northwestern University Medical Center), Kevin Ess, MD, PhD (Vanderbilt University Medical Center), and the AHC Foundation.

Kind regards.
The ATP1A3 in Disease Symposia Standing Committee
email: 6th.symp.atp1a3@gmail.com
www.atp1a3disease.org

Birt þann

Grants bolster research on rare neurological disorder AHC

Kevin Ess, M.D., Ph.D., Gerald M. Fenichel Professor of Neurology, has received two grants from the Alternating Hemiplegia of Childhood Foundation (AHCF).

Kevin C. Ess, MD,PhD
Neurology

Kevin Ess, M.D., Ph.D.
The grants will support efforts to understand cellular and molecular defects that contribute to AHC, a rare neurological disorder that causes repeated, sporadic attacks of hemiplegia — paralysis of part of the body. Patients with AHC often also suffer developmental delay, epilepsy and dystonia (abnormal muscle tone).

The hemiplegia attacks in AHC may cause mild weakness to complete paralysis on one or both sides of the body — sometimes alternating between sides — and they can vary in duration from minutes to hours to days. Patients are usually diagnosed before 18 months of age and may initially be misdiagnosed as having a seizure disorder instead of hemiplegia.

In up to 75 percent of patients, mutations in the gene ATP1A3 cause the disease. ATP1A3 encodes a protein component of the sodium/potassium ATPase — a molecular pump that moves sodium and potassium ions across the cell membrane and is responsible for establishing and maintaining the electrical gradients that are important for nerve and muscle excitability.

In a project that AHCF has continuously supported since 2012, Ess and close collaborator Alfred George, M.D., at Northwestern University, are studying human neurons generated from AHC patient-derived stem cells.

They are also using gene editing approaches to correct the ATP1A3 mutations in patient-derived cells. In addition, they are screening drugs and compounds for their ability to correct the defect in order to identify potential new treatments for AHC.

Ess also received AHCF funding for a second complementary project, in which his team is generating specific antibodies directed against the alpha3 and alpha2 subunits of the sodium/potassium ATPase. These antibodies will be highly useful tools for assessing levels of the specific subunits of the sodium/potassium ATPase.

They will be used not only in the human stem cell-based models, but also in mouse models of AHC that are being developed, Ess said.

“This should be an excellent investment that should continue to pay dividends far into the future,” Ess added.

Ess is the director of the Division of Pediatric Neurology and leads an AHC clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt.

Media Inquiries:
Leigh MacMillan, (615) 322-4747
leigh.macmillan@vanderbilt.edu

Birt þann

Dr. Kathryn J Swoboda hleypur í Reykjavíkurmaraþoninu

Þekktur taugalæknir og genafræðingur Kathryn J Swoboda hleypur fyrir Sunnu Valdísi og AHC samtökin í Reykjavíkurmaraþoninu þetta árið.


Kathryn hefur síðustu 20 ár verið einn helsti sérfræðingur um AHC og SMA og er einnig með rannsóknarstofu í Cambridge, MA þar sem hún vinnur að því að finna meðferðir við SMA og AHC.
Kathryn verður hér á landi í nokkra daga en gefur sér tíma til þess að skoða eina AHC sjúklinginn á Íslandi, Sunnu Valdísi Sigurðardóttir og einnig ætlar hún sér að hlaupa í Reykjavíkurmaraþoninu ásamt syni sínum og frænda.

Þegar Sunna Valdís lenti inn á spítala árið 2008 með óstöðvandi AHC köst þá var það ráðleggingar frá Dr. Swoboda sem björguðu lífi Sunnu Valdísar.

Sunna var búin að vera í hrikalegum köstum í 11 daga og gat ekki lengur borðað, gengið, var með ósjálfráðar hreyfingar og læknarnir á Íslandi höfðu engin ráð. Sunna var að fá yfir 50 köst á dag og hrakaði stöðugt.

Faðir Sunnu, Sigurður Hólmar fékk gsm símanúmer hjá Dr. Swoboda gegnum Bandarísku AHC samtökin.

Dr. Swoboda svaraði símanum þrátt fyrir að vera í sumarfríi og leiðbeindi svo íslensku taugalæknunum hvernig væri best að taka næstu skref. Sunna var svæfð og haldið sofandi í 4 daga. Þegar hún var vakin þá hélt hún áfram að fá köstin en svo fækkaði þeim og að lokum stoppuðu þau eftir nokkra daga. Sunna þurfi að vera í stífri enduhæfingu í 3 mánuði á eftir til þess að læra að, borða, ganga og hreyfa sig eðlilega aftur.

Það er nokkuð ljóst að án ráðlegginga Dr. Swoboda þá hefði Sunna Valdís ekki lifað þetta af….

Allar götur síðan hefur Dr Swoboda ráðlagt með umönnun Sunnu Valdísar.

Hérna er hægt að heita á Dr. Kathryn

http://www.massgeneral.org/children/doctors/doctor.aspx?id=19696#

http://www.scmp.com/news/hong-kong/health-environment/article/2003739/drug-trial-brings-new-hope-sufferers-rare-genetic

Cure SMA’s 2015 Researcher Meeting: New Born Screening

https://www.hlaupastyrkur.is/godgerdafelog/charity/229/ahc-samtokin

Birt þann

Human Timebombs wins another award

„Human Timebombs“ has won the title for Best Global Impact Award for the 7th edition of Move Me Productions’ Festival.“

Congratulations Agusta Fanney, this is the 4th award the film receives. We could not be happier 🙂

www.humantimebombs.com

#humantimebombs #raredisease #rareconnect

Birt þann

The disease that is removed by dreams

A very good article from a Spanish website about AHC, here is a summary from the article:

„The triggers of attacks are diverse and unpredictable, they are often related to good times. Marta no longer wants to go to the carnival because the parade involves ending up paralysed.“

 

Ollie from Spain with her twin sister Charlotte

Ollie is a little girl with golden curls that her twin sister Charlotte calls Lele. When parents show Charlotte a video of Ollie eating a porridge her pupils begin to move, she smiles, shouts her name and goes to look for her in the crib where she sleeps.

Ollie is 21 months old and just diagnosed with AHC.
Ollie and the other 18 cases of Spain are loved.  Now they just need a cure to leave the pain and the paralysis behind.

„when Charlotte sees something happening with Ollie, she takes care of her, it’s a great encouragement because Ollie imitates her, chases her around the house and they both mess up,“ said her mother Bridget Vranckx.

Ollie and the other 18 cases of Spain have love. Now they just need a cure with which to leave the pain and the paralysis behind.

„Rachel’s attacks come with happy moments. Opening the birthday presents, going to the carnival or seeing the boy she likes becomes a torture.“

Human Timebombs, a documentary filmed to spread awareness of the disease that can be seen in the website www.humantimebombs.com

One of the main characters tells us about a particular event where his daughter forgot the word „dad“ after a bad crisis. It erased the word so that she could not say dad again until a year later.

In the film not only are the fears visualised: You can also see that the hope persists when the film ends.

In 2012, researchers, working closely with family associations, were able to discover that the mutation that causes Alternating Hemiplegia is found in the ATP1A3 gene and with sufficient funding, finding an effective treatment seems possible.

„The key is to find out how the function of the gene can be restored or at least to stabilize the pump so that patients can lead a life as normal as possible,“ says Dr. Carme Fons Estupinà, a neurologist who has investigated the syndrome in the Sant Joan de Dèu since 2006.

„In Spain, Ollie’s parents, the recent case diagnosed two months ago, drink from that yearning. Aware that no pharmaceutical company is betting on this syndrome, they joined the Spanish Association of Alternating Hemiplegia Syndrome headed by Rafi Muñoz and Pilar Tejero, the mothers of Raquel and Marta, to raise funds.

 

For the full article click HERE

Birt þann

Diagnosis and Treatment of Alternating Hemiplegia of Childhood

The diagnosis and treatment of patients with Alternating Hemiplegia of Childhood (AHC) and related disorders should be provided by a multidisciplinary team experienced with the spectrum of presentations of this disease, with its related disorders, with its complex and fluctuating manifestations, and with cutting edge advances occurring in the field.

Involvement in research to advance the understanding of this disease and partnership with international collaborators and family organizations are also important. An example of such an approach is that of The Duke AHC and Related Disorders Multi-Disciplinary Clinic and Program, which, in partnership with the Cure AHC Foundation, has developed and applied this approach to patients seen since early 2013. The program provides comprehensive care and education directly to AHC patients and their families and collaborates with referring physicians on the care of patients with AHC whether evaluated at Duke clinics or not.

It also is involved in clinical and basic research and in collaborations with other International AHC Research Consortium (IAHCRC) partners. The clinic is staffed with physicians and experts from Neurology, Cardiology, Child Behavioral Health, Medical Genetics, Neurodevelopment, Neuropsychology, Nursing, Physical and Occupational Therapies, Psychiatry, Sleep Medicine, and Speech/Language Pathology. Patients are seen either for full comprehensive evaluations that last several days or for targeted evaluations with one or few appointments.

Alternating hemiplegia of childhood is a serious disorder that, together with its related disorders, is becoming increasingly recognized. Its diagnosis and management require a multidisciplinary team that addresses all aspects of this very complex disease and the needs of the patient and family. Active clinical and basic science research and collaboration among centers concentrating on this disease are creating opportunities to deepen the understanding of this disorder and to better treat it.

For the full article click HERE

Birt þann

Local girl battles rare disease – Fox news

NEW JERSEY (WTXF) – A local girl is battling a rare, debilitating disease. Her mom is fighting to find a cure.
Emilia Schalick is a bubbly, fun loving, affectionate 5-year-old girl with so much personality she lights up any room. Spend a few minutes with her and she’ll melt your heart and you’re a fan forever.

 

Soon after she was born her mother, Meredith Schalick, noticed something wasn’t quite right. In the recovery room right her eyes were sort of wandering a bit and she was having trouble breathing.

“They brought her to my room about a half hour later she had a blue spell. She stopped breathing altogether,” she told FOX 29.

As Emilia got older she missed some of her developmental milestones.

“We had 7 specialists working with us and we couldn’t figure out what it was,” Meredith explained.

They did brain scans, tests and MRIs but everything came back normal. That’s when Kristy researched online and found an article that sort of matched her symptoms 2 and a half years later, Emilia was diagnosed with alternating hemiplegia of childhood or AHC.

“A rare neurological development disorder that’s characterized by recurrent episodes,” CHOP neurologist Dr. Katherine Taub said.

Dr. Katherine Taub is a neurologist at Children’s Hospital of Philadelphia and she’s been helping Emilia since the beginning.

„It wasn’t until she was working with her occupational therapist at the Children’s Hospital of Philadelphia who witnessed a few episodes of weakness,“ her mother said.

Emilia goes to CHOP at Virtua in Voorhees for therapy once a week with longtime therapist Kristy Pucci. Like others with AHC, Emilia has episodes of paralysis once or twice a week.

„When we started working together especially in the pool she would have these periods of just becoming completely almost paralyzed. A limp doll.“

Living with AHC is a challenge. It’s a debilitating disease while the disease is diagnosed before a child is 2, kids don’t grow out of it. Emilia’s mom worries about Emilia’s future while she is used to the episodes they are still scary.

These episodes happen once or twice a day for Emilia but when there are changes in weather or she gets over-stimulated they can increase. The episodes can last for a few minutes or hours but if Emilia can sleep she’s back to normal.

Emilia’s mom, a law professor at Rutgers law school in Camden, is patient, compassionate and determined to raise awareness and find a cure for this debilitating disease.

Despite the fact that Emilia has a potentially devastating and rare disease she triumphs over the limitations of her condition in amazing ways.

If you want to learn more about AHC or support medical research for a cure, please visit http://ahckids.org/

Birt þann

A heartwrenching glimpse into the horrors of AHC

A day in the life of Abigale...
As I have said before and if you are walking the same journey will know all too well, no 2 days are the same with AHC. But I thought I would give you all a peek into Abigail’s recent days.


Monday
Today is day 9 of AHC episodes
7am – All woken up with Abigail screaming for a drink and shoving her fingers in our ears / noses – As is the usual occurance Abigail woke up during the night and had to come into our bed
7.20am – Gavin has the kettle on and Abigail is now sat happily drinking hot chocolate
7.25am – Abigail fingers are starting to cramp and her arm is now not working ( hemi episode)


8.40am – Gavin leaves to take Hugh to school which causes Abigail to have a meltdown and now her leg is also not working and her mouth is starting to droop on one side – Today is going to be a long day, It’s OK Gavin is working from home today so I have an extra pair of hands
11am – Abigail has bad dystonia and is crying in pain – there is nothing worse than having to listen to your child crying in pain and having to wait for the medications to kick in
11.10am – Abigail is now in a bilateral episode. All 4 of Abigail’s limbs are not working, her mouth is being affected and more than anything she looks scared – My heart breaks a little bit more as each minute ticks by and we just do not know how long this is going to last .
12pm – Gave Abigail some melatoinin to see if we can get her off for a sleep and paced the floor – Abigail seems more settled if you walk and rock her , not an easy task at 17+kg
12.15 – 12,55pm – Abigail asleep , hopefully when she wakes up the episode will have at least improved to a hemi
1pm – Abigail is awake and still in bilateral episode. All we can do is give her lots of hugs and make her as comfortable as possible
3.30pm – Abigail is still in bilateral and really starting to more and more unsettled so Gavin & I decide as per Abigail’s protocol we will give her buccal to see if we can break the episode and give some relief. We don’t like doing this as it does not always work and Abigail has a tendency to seize when in bilateral episode and it means that if this happens we have reduced the drugs we can admisiter at home.
3.40pm – Give Abigail 7,5mg buccal and wait to see if it is going to work

3.55pm – The buccal has worked and Abigail is now asking for a drink


4.10pm – Gavin goes to collect Hugh from football and I make Abigail some ready brek as she has not been able to eat for most of the day
4.30pm – Abigail arm and leg have stopped working again ( hemi episode) Is she ever going to get a break !
5.30 pm – Decide to bring Abigail’s evening medications forward so that we can bring bedtime forward

and this ain’t all of it 🙂
7.30pm Abigail is asleep and in bed – fingers crossed tonight will be the night that the episode breaks
9,40pm – Abigail has woken up – Gavin goes up to settle
10.45pm – Abigail has woken up – I go up to settle
11.20pm- Gavin & I get into bed and pray tomorrow is a better day for Abigail

In between all of the above we have also read with Hugh, talked about his day at school, cooked Hugh dinner and tidied up as best we can. So glad Gavin and I are a good team
Gavin & I had crusty bread & cheese for dinner – too late to cook!!!!

Tuesday

6.45am – Woken up by Abigail protesting that she wants “ Mummy” yes Abigail has woken up during the night again and is in our bed.
6,55am – Gavin, Abigail & I go downstairs to start the day
7am – Abigail’s arm and leg have stopped working – Gavin has to go into work today so I am on my own today
8.40am – Gavin & Hugh leave for school & work
8.40am – 9am – Abigail screams looking for Daddy & Hugh, finally distract by putting photos on the PC for us to look at.
10.30am – Abigail has gone in to a bilateral episode – It is going to be a long long day
12pm – Abigail is having problems controlling her saliva / swallow and is really unhappy as the dystonia is back with full force. Give Abigail some pain relief and hope it helps

12.10 – 1pm Walk and rock Abigail to try and give some relief
1pm – Ask one of the neighbours who I have seen if they would mind holding Abigail while I use the toilet.
1.30 pm – Abigail seems more settled so we have snuggles on the sofa and watch tv – All the time keeping a eye on her pulse ox machine

3.30pm – Hugh comes home from school and he joins us on the sofa for a hug and to tell me all about his day and reads his book beautifully to Abigail & I
3.40pm – Abigail starts to seize

3.43pm – Administer the first lot of emergency drugs, call neighbour to see if Hugh can go over for a while
3.50pm – Call 999

3.53pm – Administer second dose of emergency meds and put Abigail onto oxygen as her stats have started to drop
3.54pm – wassapp Gavin too let him know what is happening and ask him to head home
4.15pm – Rapid response car arrives – It is someone who knows Abigail, which is always a bonus
4.25pm – Ambulance arrives and the first responder leaves us in their care
5.10pm – Gavin gets home
6pm – Ambulance crew leave after giving Abigail a full check over. We and the ambulance staff try to keep Abigail at home as much as we can as going into A&E always adds the risk to triggering the AHC
6.30pm – Hugh comes back from the neighbours who have fed and watered him.
6.45pm – Abigail has her evening meds and pjs on
7,30pm – Abigail settled in bed
Gavin & I decide that we are both too tired to cook so end up ordering takeout.
During today the only adult conversation / interaction I have had is the 5 mins while the neighbour held Abigail and then when the ambulance staff arrived.
Life can be VERY lonely some days
After these two days the lovely Hugh fell ill as well but that’s a whole other story how I manage both 😊
Catch up with you all soon Em x –cureahcukmummy
#humantimebombs #oneinamillion #findacure

Emma Mallon

London, UK
Jan 29th, 2017