The heroes of Chelsea’s Hope that will not be forgotten

Matthew DeSimas

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Boston Massachusetts
(January 5, 1989-September 26, 2011)

South Coast Today, September 28, 2011

FAIRHAVEN — Matthew DeSimas, 22, of Fairhaven, MA, died on September 26, 2011 after a long and courageous battle with Lafora Disease. He was born in New Bedford on January 5, 1989, the son of Lisa Santos of Fairhaven and Steven DeSimas of New Bedford.

Matt grew up in Fairhaven and attended St. Joseph’s Elementary School, Hastings Middle School and Bishop Stang High School. He played for Fairhaven Little League and enjoyed roller hockey and golf. He was an avid outdoorsman who loved snow-boarding, skiing, hiking and mountain biking in New Hampshire. He loved his faithful pets; Ben and Jerry, Maxine and Fussy.

He enrolled in Bishop Stang High School and joined the football team. As the disease progressed and he was no longer able to play, the team rallied behind Matt and he became the team manager. He graduated from Stang in 2007 with the love and support from the students and faculty. In fact, Matt received his diploma bedside at Children’s Hospital with all the pomp and circumstance befitting a new grad.

Matt was diagnosed with Lafora Disease when he was just thirteen and for every day of the last nine years, he handled himself with courage and grace while this rare disease tragically cut short his life.

Matt is survived by his parents, step-father, Scott Santos, grandparents, Thomas and Aina Holden, Yvette DeSimas, and the late Herbert and Barbara Santos, Frederick DeSimas; as well as an aunt, uncles and cousins.

In keeping with Matthew’s memory, we ask you to share a smile and a story with someone today.

His Funeral Mass will be held on Friday, September 30, 2011 at 11am in St. Joseph’s Church, 74 Spring St., Fairhaven. Visiting hours on Thursday 4-8pm in the Waring-Sullivan Home of Memorial Tribute at Fairlawn, 180 Washington St., Fairhaven. Burial in River-Side Cemetery.

In lieu of flowers, donations in Matt’s memory may be made to Friends of the Hospital for Sick Children, Toronto, Inc., c/o Roha & Flaherty, 1725 I Street, N. W. Suite 300, Washington, DC 20006-2423, or donate online at www.networkforgood.org – the donation is for “Dr. Minassian’s Lafora research,” or to Bishop Stang High School, 500 Slocum Road, No Dartmouth, MA 02747. For online remembrances please visit: www.caringbridge.org/visit/matthewdesimas.

Biography

Matthew suffers from a form of Progressive Myoclonic Epilepsy known as Lafora Disease. He showed no signs of illness until his 1st seizure at age13. He was an honors student and athlete who enjoyed football, hiking, mountain biking and snow boarding. Due to Lafora’s rarity (around 200 cases worldwide) it took over 3 years and visits to Children’s Hospital in Boston, Dartmouth-Hitchcock Medical Center in New Hampshire and the Hospital for Sick Children in Toronto to get a definitive diagnosis. Unfortunately the diagnosis is not the one we wanted to here. Lafora Disease is characterized by progressively worsening seizures and cognitive decline. It is typically terminal within 10 years of onset.

We are now focusing on Matthew’s quality of life and raising funds for Lafora research. Due to the disease’s scarcity, there is little funding to find a cure. We’ve held several yard sales and the Ride for a Cure Motorcycle run to raise over $6,000 for this cause.

Although Matt continues his battle with Lafora Disease we have managed to fit in a number of highlights.

The Make-A-Wish people arranged for a tour of Fenway Park where we got to watch batting practice from the field and watch a Yankees – Red Sox game. Matt met and got a ball signed by Reggie Jackson.

We summited Mount Washington via the Cog Railway this summer. We toured the Niagara region of Canada and visited the Rock and Roll Hall of Fame in Cleveland. Matt’s goal has long been to attend Notre Dame University, so we took a trip to South Bend where he got a private tour.

Matt was elected Homecoming King and his classmates went out of their way to make it a very special weekend for him. In December, his classmates and the faculty held a variety night benefit fundraiser for Matthew. The whole Bishop Stang community has been wonderful to us throughout this whole ordeal.

– Provided by Matthew’s Parents

 

 

 

 

 

Caring Bridge: Matthew DeSimas
“Welcome to our CaringBridge site. It has been created to keep friends and family updated about Matthew’s battle with Lafora Disease. We’ve set this site up as the demands of his illness has kept us from keeping in touch as much as we should.”
http://www.caringbridge.org/visit/matthewdesimas

Parent Diaries

January, 2008
December, 2008
February, 2009
March, 2009
April, 2009
May, 2009
October, 2010
Summer, 2011
September, 2011

Mallorie Taylor Lindo

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Boston, Massachusetts
(October 3, 1995 – March 20, 2013)

Mallorie Taylor Lindo, 17, of North Washington Street, North Attleboro, died surrounded by her loving and devoted family at the Boston Medical Center on Wednesday evening, March 20, 2013 following a heroic effort over her illness.

Born in Fall River, Massachusetts on October 3, 1995, she was a daughter of David J. Lindo, Jr. of Fall River and Jennifer Shattuck of North Attleboro.

She was a resident of North Attleboro for the past 8 years having moved to the community from her native Fall River.

Mallorie attended Community School prior to the North Attleboro Middle and High Schools.

A soccer enthusiast since age four, Mallorie was a member of the Junior Varsity Girl’s Soccer Team at North Attleboro High School and the North Attleboro United Team. She was also a member of the North Attleboro High School Girl’s Track and Field Team.

Her favorite pastimes included listening to music, particularly Justin Beiber and texting her friends and family.

Mallorie attended Evangelical Covenant Church, Attleboro with her family.

In addition to her parents, she leaves her siblings: Donovan J. Lindo of North Attleboro and Molly A. and Kylie E. Lindo both of Newton; her maternal grandparents: Donald and Theresa (Havener) Shattuck of Pine Island, Florida; her paternal grandmother: Helena (Rebello) Lindo of Fall River; three uncles: Matt Armstrong in Illinois; Jared Shattuck of Atlanta, Georgia and Chad Michaels of Tallahassee, Florida; a cousin: Miles Shattuck of Atlanta, Georgia and numerous extended family members and dear friends.

Biography

Mallorie Lindo is a 16 year old girl living right outside of Boston Massachusetts and suffers from the rare form of epilepsy known simply as Lafora. Mallorie’s story is similar to others dealing with this atrocious disease. She was a normal, lively teenage girl whose life was drastically changed the day of her first seizure. Constant hospital visits, sporadic seizure activity, and hundreds of tests are now the norm. A once star soccer player and straight A student is slowly changing right before our eyes.

The type of Lafora that Mallorie has creates some questions amongst the Lafora experts. She possesses a rare genetic mutation that had never been mapped before and therefore created a sense of hope that perhaps there were answers hidden inside this small genome. Albeit a small sense of hope I think every parent dealing with Lafora’s can understand that any hope is worth holding onto. Unfortunately we have been told the rare defect will not help, but rather speed up the process. Another devastating blow.

When the official diagnosis came I had all the same questions every other person dealing with an affected loved one had… Why her? Why something this severe? Why not me? There are and never will be any answers. We can only enjoy one day at a time.

So we said screw it and started enjoying what we had. This summer Mal has been to Disney, Sea World, Epcot, and Universal Studios on behalf of Make-A-Wish. The local YMCA threw her a massive Sweet 16 party since she missed hers. She’s been to Maine to go canoeing, swimming, and cook spider dogs (hotdogs). We just recently made a trip to Patriots Spring Training to go cheer on her favorite football team and of course see some of the cute boys. What’s even more impressive is how everyone is coming together to show their support and love (golf tournaments, auctions, fundraisers, cards, meals, etc).

Through all the heartache and pains she continues to focus on ensuring that everyone finds JOY somewhere in life. Be it something simple like a phone call to an old friend or taking that trip you’ve been putting off for too long. Our lives are too short and if Mallorie’s disease can bring some kind of good to this world then she wins. She’ll beat it and we will all be healthier because of her.

As of today Mallorie has her ups and down. Some days are great and she is very aware of her surroundings. Other days are a struggle to say the least. We have found many cool little tricks that help her still be a strong willed teenager, but keep her safe as her body is slowly taking charge of her actions. It’s hard on everyone around her as well, but her younger brother Donovan has been amazing through it all and is always there to lend a hand. Unfortunately he is slowly losing his sister and it breaks my heart.

It’s times like these when you feel you are alone dealing with this atrocious disease, but families like Chelsea’s and those connected through Chelsea’s Hope are an amazing asset. I wish everyone dealing with their form of Lafora the best as my thoughts and well wishes are with each of you.

Jen Shattuck Cosentino – Mallorie’s mom

 

Golf for Epilepsy

Lucy Terceira

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Toronto, Ontario

“My beautiful sister Lucy passed away in December of 2009. I cannot express accurately what the passing of my sister has done to our family. To say that it has been devastating would be an understatement. It was devastating enough to get the Lafora diagnosis several years ago, and then to lose her was and still is unbearable.

We are from Toronto, Ontario. My sister passed away just a few weeks shy of what would have been her 24th Birthday. Her battle with Lafora went on for approximately 10 years. Lucy was a super bright energetic teenager and at the age of 14 we knew that something was wrong. Her balance was off, she started dropping things, complained of headaches and her vision and loss of power on her ankles and legs when walking, then the seizures started. We saw a few neurologists and several other medical professionals and everyone diagnosed epilepsy. We knew it was much more than that. Medication was simply not controlling the seizures and trial and error went on for a while until we found a balance. When we were introduced to Dr. Minnassian several years ago it only took about 4-6 weeks to get the diagnosis we were not prepared for.

This disease is monstrous. Within a few short years, my sister’s energetic body became so frail and dependant. I still cannot believe how the disease progressed. My sister towards the end could not walk, said a few words here and there, and had a G-tube, but boy could she ever still smile!!! 🙂 In the end, my sister lost her battle with Lafora because of complications with her G-Tube. After going in to the hospital to have it replaced somewhere along the process her stomach was ruptured. Later on that day, when my sister’s discomfort did not pass with some medication per the radiologist’s order, we brought her back in to the hospital. Within that last hour, we knew something was very wrong. She was slipping away from us. Her vitals were almost non-existent. Things happened so quickly. She was put on life support that night and on the following morning they operated to mend her stomach. We were in shock! They told us she might not make it through the operation. She did though, my sister was a fighter! For a few weeks after that although she was still critical because of all of the infections she got, we never lost hope. When my sister was at her weakest, Lafora kicked in overdrive. Her seizures did not subside. The only way to give her body any sort of rest was to sedate her. She was sedated for long periods of time. It was so heart breaking. We knew we would lose her to Lafora because a cure was not yet had, but not because of her G-tube. I am still having a hard time with this as I type these words. The emotions are so uncontrollable right now. The tears are dropping steadily on my keyboard.

My sister passed away peacefully with us loved ones at her side, so that makes the grieving a bit easier. Throughout her stay at the hospital, Dr. Minassian was always within reach, God bless him. He even came to visit with my mom and sister. We donated my sister’s brain, heart and muscle to help with research as the Gellel family did several years ago with their daughter Diane. We keep telling ourselves now that it is selfish to want my sister alive and back with us, because she was not like you and I, she was ill. Her beautiful smiling face only went so far. She was confined to a wheelchair, ate through a tube, could barely speak and needed a lot of suctioning towards the end of her fight. It hurt like hell to see what she went from being to what the disease did to her over the years. Her beautiful face remained though, and her smile was as radiant as always. God only takes the best. we will never forget this.

To all of you who have lost someone to this disease, we share in your grief immensely. We personally know Sam and Rita Gellel who have lost two of their daughters to Lafora. The level of grief is so difficult to fathom. Keep strong everyone and hold your children and family members a little tighter each time.”

Biography

My sister Lucy was diagnosed with Lafora several years ago. Lucy was an energetic teenager and actively involved in martial arts up until the age of 16, when we knew something was very wrong with her. It began with the breaking of dishes and Lucy spilling her drinks. Next, Lucy was always tripping and losing her balance. All of our family doctors told us that nothing was wrong and that this stage would pass. Then, shortly after her 16th Birthday, Lucy fell down the stairs, a result of having a seizure. Shortly after that Lucy was put on a series of medications, all of which were not affectively controlling her seizures. Her neurologist at the time recommended that we pay Dr. Minnassian a visit. A few months afterwards, we were given the terrible news that Lucy had been diagnosed with Lafora.

Several times within the last few years, we thought that we were going to lose Lucy. This disease is absolutely and 100% completely heart breaking. Lucy went from being a very popular and fun loving, energetic girl to being unable to walk, dress herself and feed herself. Lucy now receives her food and medication through a G-tube. Without the G-tube we would have lost Lucy a long time ago. But no matter how frail and tired this disease has made her, Lucy still to this day smiles as bright and as big as she did prior to being diagnosed.

Lafora has devastated our lives, but day in and day out we all strive to infuse as much love and affection as we can into Lucy’s life. And our main priority is to keep Lucy as comfortable and as happy as possible.

– Provided by Lucy Terceira’s Sister, Jennifer Terceira

Kristen Rice

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 Seattle Washington
(1986-January 7, 2014)

January 6, 2014 – The below text is taken from the Caring Bridge Site for Kristen Rice

We are creating this website to let everyone know about Kristen’s current situation. We feel that she is now almost certainly approaching the end of her life. I almost got this site up and running over a month ago, when she was hospitalized with pneumonia, but that strong body of hers pulled through and I thought we might have more time. However, she now has another pneumonia, and the Hospice team tells us that we can expect hours to days. She is at home, surrounded by more love than our hearts can hold.

This has been a long journey. She has lived with Lafora Disease for 14 years, half of her life, given that her 28th birthday is less than two weeks away. What a good life she’s had, despite the relentless progression of this neurodegenerative disease over the past 14 years. She’s already given and received a lifetime allotment of love (and then some!) She’s remained cheerful and resilient … even joyful through most of the journey, despite her profound physical and mental impairment. And she’s brought immeasurable joy into our lives along with the heartache.

I’ve posted some pictures that were taken on September 22 on San Juan Island, “wheelchair dancing” with Mom and Dad to “My Girl” by the Temptations. How fortunate we were that our dear friend Charlotte, a professional photographer, happened to be there with her camera, and captured these moments for us forever.

That’s the last glimpse we’ve had of her joyful essence. Within a month of those pictures being taken, she became wracked with uncontrollable seizures. She’s exhausted, as we all are, but she’s now resting peacefully.

If you have a memory or two of Kristen you’d like to share here, we’d be most grateful. We’d like to make this time a celebration of her life, and we’d treasure your anecdotes of this beautiful, quirky little poet and philosopher. We promise to read them to her, and I believe she will hear them and they will bring her joy.

January 7, 2014 –

Kristen has gone to a place where there are no seizures. She waited for Katie to make it home at about 10:30 last night. Once Katie arrived, her breathing became peaceful. At 7 AM this morning she drew her last breath.

Thank you all for your love and support. We read all of your entries to her as they came in, and they gave us much comfort throughout the long, dark night.

With Love,
Kim, Jim, Katie, and Kristen

To leave a message of sympathy and support for the Rice family please visit www.caringbridge.org/visit/kristenrice

Biography

Kristen was a beautiful, articulate, high-achieving, 14 year old, full of fun and curiosity, when she began to experience occasional uncontrollable jerks, which we came to learn soon after, represented myoclonus.  The early manifestations were subtle, such as accidentally spilling her milk at the dinner table and breaking dishes when she unloaded the dishwasher.  We were seen by a neurologist, who sent her for an EEG and diagnosed Juvenile Myoclonic Epilepsy (JME).    We were told that this is a quite benign type of epilepsy that is readily responsive to antiepileptic medications, usually quite easy to fully control.  So she was started on Depakote, and for a few months, went on with the life of a basically normal eighth grader.  She announced that she wasn’t going to let her epilepsy be a “big deal” in her life, and her greatest concern was that she was no longer allowed to take baths in the tub.  However, we soon began to notice increasing clumsiness, and she began to have difficulty for the first time in her life in honors math.  And rather than getting the myoclonus under control with Depakote, she began to have full tonic-clonic seizures and much difficulty walking as well. This was in the winter/spring of 2000.

That’s when I got on the internet and started learning about all the terrible forms of PME.  I couldn’t let myself believe that it could be any of those horrible things, and our neurologist was still hopeful that it was simply a matter of not being on the right medication.  On the neurologist’s advice, she was admitted to Children’s hospital for a “rapid crossover” of medication, i.e. switching her from depakote to keppra over the course of 3 days rather than the conventional gradual weaning off one medication while slowly increasing the other.  (No one I have ever spoken to has ever heard of this kind of unconventional approach.)  This turned out to be a disastrous plan, landing Kristen in the ICU in a pentobarb-induced coma.  At that point we were told that we may never be able to stop the seizures and that her survival was in eminent jeopardy.  I can tell you that only a parent who has endured this experience, watching their child’s flat-line EEG while the body is being kept alive by a ventilator, can understand that depth of suffering.

The doctors were able to wean Kristen off the pentobarbitol and on to phenobarbitol so that she no longer required a ventilator and could be transferred out of the ICU.  However for 5 weeks after that she never regained consciousness, and we began to make plans to take her home and care for her in a vegetative state.  Then one day she woke up.

She didn’t talk right away, but she smiled and really connected with us through her facial expressions, so we knew she was still there.

Only a parent who has experienced this with their child, can possibly understand the depth of that joy.  After several days she began to say a few words.  She surprised the neurologist who made rounds every day and always held up his pen and other objects for her to name.  When she actually named them one day, he was so excited he started jumping up and down and squealing, with tears streaming down his face.  After he left the room, Kristen said to me drolly, “He’s a real nut.”  Soon she was saying things like: “These pajamas are atrocious”, noticing for the first time the cute frog pajamas I’d dressed her in while she was in her coma.  With physical therapy, she regained the strength to walk with assistance.  Though she had walked in to the hospital on her own, when she left 5 months later, the ataxia was too severe.  She never walked again without assistance.

After that nightmare 5 months in the hospital, where her disease progressed so rapidly (no doubt greatly  accelerated by the unfortunate “drug crossover” attempt), her progression has been very slow.  She was never able to read after leaving the hospital, although, with great effort,  she was able to write the alphabet and tried to write some poetry, which she had loved to do before.  Her speech was very slow, but, with effort, she could produce whole sentences.  She could feed herself with adaptive utensils.  She could dress herself with moderate assistance, although it would take over an hour.  She didn’t know she couldn’t walk without assistance, so during this early period, there were many falls and trips to the emergency room for stitches.  If you turned your back on her for an instant, she’s stand up and over she’d topple.  We had a device under her mattress that alerted us when she started to climb out of bed at night.  There was very little sleep, even in those days.

Now, almost 8 years into this, she is in a tilt-in-space wheelchair because she is no longer able to support her head and trunk, let alone to stand or walk.  She is completely non-verbal, mostly incontinent, and completely dependent on her caregivers for all activities of daily living.  She is no longer able to swallow liquids and rarely exhibits any interest in solid food, although she can still swallow solids. She chokes more and more frequently on her own secretions.  She has a gastrostomy tube through which she receives her medications, fluids, and most of her nutrition.  Without her feeding tube, she would have died many years ago.

Kristen has grown from a teenager into a beautiful young woman, now 5’ll” tall, having finally grown into her long legs, but we’ve never seen her stand on them.  She has a mane of thick dark brown hair, but we’ve never seen her toss it the way beautiful girls do. Whenever I see a beautiful tall young woman walking down the street tossing her hair, I indulge myself in a brief fantasy that it is Kristen.  It does seem like such a waste to me.  But even more than her outer beauty, being robbed of her gifts and talents seems such a shame.  She was so full of potential, a writer, an artist, an environmental and human rights activist.  She was going to change the world.

My husband and I, and her home nurses, and social worker from the palliative care team, are beginning to have conversations about acknowledging that a time may come when we will be faced with a decision whether or not it is in Kristen’s best interest to continue keeping her alive through the gastrostomy tube.  We all agree that we’re not there yet, as she continues to light up the room with her radiant smile and to reach out with her shaky little arms to give the most wonderful hugs in the world.  But those moments are fewer and farther between, the farther we go on this sad journey.  Whenever I contemplate the world without Kristen, I have to go bury my face into her neck and smell her sweet skin.  She lives at home, and always will, and we cherish every moment with her and pray that the end is still a long, long time away.

Let me just end with a tribute to the amazing person Kristen is.  My sense is that she shares many qualities with the other children in this group, leading me to believe that God chooses only the most special and sweet-spirited ones for this type of journey.  Many other parents on the website have expressed the same kind of awe at the strength and grace of these children, who tend to accept their devastating losses without complaint, and to exude joy right up until the end, teaching everyone around them what is and is not truly important in this world.

– Provided by Kim Rice, mother of Kristen

Parent Diaries

A Wedding Tribute
August, 2010
February, 2012
November, 2013
December, 2013