Pepco News

Pepco Supports the Bonsky Family in their Fight Against Alexander Disease

[fa icon="calendar"] Jun 14, 2016 4:17:19 PM / by Christy Angie

To support the Bonsky's in their fight against Alexander disease, please make a direct donation here or at Elise's Corner.

Alexander disease, a Leukodystrophy, is a progressive and fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, one of the so-called “glial” cells of the central nervous system. These aggregates are found occasionally in other disorders, but not with the abundance or particular distribution in the brain that occurs in Alexander disease.

Standard histology H&E staining of tissue from an eight-year-old Alexander disease patient. Rosenthal fibers -- the hallmark of the disease -- are shown in pink; nuclei are shown in blue.

The age of onset is quite variable, ranging from prenatal through the sixth decade. The most common classification divides patients into three categories based on age of onset, infantile (0–2 years), juvenile (2–12 years), and adult (>12 years). More recently, a different classification has been proposed, with only two categories of type I and type II, with the distinction hinging more on distribution of lesions and clinical presentation rather than age of onset (all type I cases being early onset, and type II cases occurring at all ages). Type I patients typically experience seizures and/or developmental delays affecting both cognitive and motor functions, followed by loss of milestones, and an abnormal increase in head size. Other common problems include vomiting and difficulty swallowing. Type II patients also frequently experience difficulty swallowing and speaking, and have poor coordination or gait. Problems with temperature control, sweating, constipation, and pain also sometimes occur. The disease occurs in both sexes, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.


Recent discoveries show that > 90% of patients with Alexander disease have a mutation on chromosome 17 in the gene for glial fibrillary acidic protein (GFAP). GFAP is a filamentous protein of astrocytes and also accumulates as part of the Rosenthal fibers. Most of the GFAP mutations result in the alteration of a single amino acid out of the total length of 432 amino acids. How these mutations cause Alexander disease is not presently understood. In most cases the mutation is not inherited, but arises spontaneously for unknown reasons. In some of the milder cases with later onset the mutation can be passed on to subsequent generations with an autosomal dominant pattern of inheritance. Not every patient with Alexander disease has an identified mutation in GFAP, so that there may be other genetic or perhaps even non-genetic causes that have yet to be discovered.


When Elise’s parents, Christopher* and Jennifer Bonsky, received word of her diagnosis on that fateful Thursday morning in mid-November 2014, they were left feeling utterly devastated, helpless, and alone. Hearing the news that their seemingly healthy 3-year old daughter had a serious neurological disorder – one that would eventually strip her of everything that makes her the energetic, carefree, sweet child that she is today – was too much for any parent to process. Outwardly, Elise appears just like any other healthy 3-year old!! There was no way that she could possibly have a disease with such a devastating prognosis.

After the reality of the diagnosis set in, Christopher and Jennifer became determined to do something – anything — to help their beautiful child. However, because AxD is such a rare and complex disease, there simply was no clear path to follow, no definitive “next steps” to take. They were told that they would be unable to manage Elise’s disease with medication, as there are no treatments currently available. According to doctors, they could try to change her diet or add therapies to help maintain her strength, but there would be no guarantee that anything would help. Certainly, they were told, the disease could not be reversed…there is no CURE.


During those first few weeks, Elise’s parents needed so badly to talk to someone – anyone – that could offer support, guidance, or some glimmer (as small as it might be) of HOPE. While an incredible group of people in Elise’s life came racing to her family’s side, there no one that could provide support from a place of real experience with AxD.

While HOPE quickly began to fade, their love and dedication to Elise persevered. Christopher and Jennifer knew that they needed to do something quickly.

After reaching out to several leading researchers – Drs. Amy Waldman (Children’s Hospital of Philadelphia), Albee Messing (University of Wisconsin, Waisman Center) and Daniel Bonthius (University of Iowa, University of Iowa Children’s Hospital), the couple became more educated…and HOPEful. Each of the doctors and their respective facilities share a common goal of trying to turn off the abnormal GFAP gene, or preventing its harmful effects (see About AxD section for additional details on GFAP).

The Children’s Hospital of Philadelphia (CHOP) is home to one of the largest pediatric neurology divisions in the world. The hospital also has a world-class metabolic disease center, the ability to perform the latest genetic sequencing, and expertise in bone marrow and stem cell transplantation. In early June 2015, CHOP launched a formal Center for Leukodystrophy Excellence, in which affected children will benefit from the hospital’s expertise in managing complex conditions such as Leukodystrophies, as well as ongoing research into new treatments and potential cures for diseases. CHOP is a world class facility that – our family remains convinced – will be the ultimate place that will find a CURE for children with AxD.

In Wisconsin, at the Waisman Center, their approach is presently twofold:

  1. To gain a better understanding of the basic mechanisms of the disease – as in, how do changes in GFAP cause AxD?
  2. Examine potential therapeutic strategies for treatment of the disorder, and identify biomarkers that would permit the monitoring of severity / progression of AxD.

Take note that, while a portion of the Waisman Center’s research related to understanding the root cause of the Disease is federally funded by the National Institute of Health (NIH), all efforts aimed at identifying treatments is 100% privately funded.

Partially funded by the NIH, the University of Iowa is focused on gene therapy – or, simply put, a CURE for AxD. Their research lab is developing viral gene therapy vectors to deliver RNA Interference to silence the abnormal GFAP. In a test tube, molecular biologists have even been able to turn off the abnormal GFAP gene without affecting the “good” GFAP gene!! The next step for Dr. Bonthius and his coworkers at the University of Iowa is to achieve this same selective suppression of the abnormal gene, not just in the test tube, but in further experimentation.

These three research facilities are providing much needed hope to those affected by AxD. However, without private research dollars directed toward their efforts, both programs are in danger of becoming obsolete.

Researchers and neurologists alike – from all across the globe – are showing interest in the Disease. While the Bonsky’s may be part of a “rare disease” family, they firmly believe that a CURE is just around the corner….for Elise and the others affected by AxD.

Christopher and Jennifer want to ensure that no patient, parent, or family member EVER has to experience the despair and helplessness that they felt on that Thursday morning.

For that reason, the Family launched Elise’s Corner on Mother’s Day in 2014. The family will not benefit financially in any way, shape or form. This is not a fund that will assist with medical bills, treatments, etc. Rather, all monies raised by this Fund will go strictly towards further RESEARCH of AxD.

The hope is there. A cure is right around the corner. Please, come stand with us in Elise’s corner.

When Elise walks into a room, it’s almost as if a light follows her wherever she goes – people are easily drawn into her world by her easygoing, happy demeanor, constant smile and infectious laugh. Appearing almost angelic at times with her fair skin, sun kissed hair, and wide, crystal-clear blue eyes, Elise truly is an outwardly striking child.


But what lies beneath Elise’s physical appearance is what makes her so incredibly special.

See, to know Elise is to love her, because that is exactly what she represents. Simply put, Elise is LOVE. At just four years old, she has one of the biggest hearts of any person around – no matter their age. She exudes compassion and kindness in everything she does – from playing patiently (almost always) with her little sister Emmersyn, to helping her mom and dad with chores around the house, to caring for her beloved pets, Maxwell and Blu.

Elise is especially eager to lend a hand in times of need. She’s always quick to offer up a huge hug and kiss, a pat on the back, and an “I love you” anytime she sees those around her having a bad day.

According to Elise, everything will always be okay. And it always is….because she’s there.

Elise also has an unbelievable imagination that pulls people into a carefree world, filled with sunshine, happiness, and make believe. She loves to do arts and crafts – especially those that involve her favorite color, GREEN – and is always full of new and creative ideas. Whether she’s building forts, playing hide and seek, or performing a dance recital in the middle of the family room, there is never a shortage of giggles and fun when Elise is around.

Elise just makes the world right.

To support the Bonsky's in their fight against Alexander disease, please make a direct donation here or at Elise's Corner.

*Chris works in outside sales in the Utility/High Voltage Division at Pepco's Eastlake Branch. Pepco has supported the Bonsky family in their fight against Alexander disease by being a Gold Sponsor at last year's #LOVEHOPECURE event.








Topics: Pepco, Alexander Disease, leukodystrophies

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