VWM Patient Stories
Sam. Age 5. Connecticut, USA. Read About Sam
In February 2013, our 2-year-old son Sam was playing on the bed, when he fell off onto the carpet. He was unresponsive for 30 seconds. When he came to, he seemed to be unharmed but, when we tried to stand him up, he collapsed, unable to stand. We knew something was wrong so we called an ambulance. At the hospital, they suspected a hip sprain, and sent him home.
After 6 weeks, several visits to the doctor, and minimal improvement in Sam’s walking, we insisted he be sent for further tests. That is when a CT scan showed that there was something very wrong. A few days later an MRI was performed and on April 4, 2013 we got the worst news that any parent could possibly hear. Our son has a very rare brain disease. There is no treatment or cure. It could be 2 years or 10, but Sam will not grow up.
Since diagnosis, Sam has completely lost the ability to walk or stand independently. He hops to get around the house, using his upper body strength to propel him along the floor. He has severe hand tremors and his speech is very slow.
The last 3 years have been a roller coaster of emotions. We are thankful for every day we get to spend with Sam, he is joy personified. He smiles, laughs, and shows affection with ease. How we will ever be able to live without him, we can’t even begin to imagine.
But every day is also a struggle. As any parent with a disabled child will tell you, it is both mentally and physically exhausting. During the day it is easy to be happy, almost normal, though often by the end of the day you are spent and the sadness sets in. It is a life of extremes. The tears are always just under the surface but at the same time we are happier than we have ever been before. When Sam says things like ‘I want to be an astronaut when I grow up’ it shatters you heart into a thousand pieces, watching other children Sam’s age run and play brings on almost physical pain. This constant sadness is at odds with a heightened ability to take joy from life and appreciate all it has to offer.
And then there is the fear. Not so much fear of Sam’s death, but fear of what comes after his death. Will we know how to pick up the pieces? Will we lose ourselves, each other? We hope not, but there is no way to know.
When we were told Sam had VWM, it was clear we had a choice to make. We could become very protective and try to keep him with us as long as possible or we could let him live life fully, even if that meant he left us sooner. We chose the latter. Life has to be lived no matter how long we have on this earth. Since his diagnosis, Sam has been to his first concert (Train — his favorite song is ‘Drive By’) and met the band, getting a big hug from the lead singer much to Sam’s delight. He has eaten pizza in Naples, ridden in a gondola in Venice, met his favorite F1 driver and sat in his race car, celebrated his birthday in Budapest, sat on Santa’s lap in Lapland, and even met the Duchess of Cambridge. He has experienced more in his 5 years than most do in a lifetime.
Hopefully the lessons we have learned from Sam will carry us through the coming years. Every day is a gift, what is important in life is so clear for us now. We don’t sweat the small stuff and we try to the most of every single day. For now all we can do is try to live in the present and take each day as it comes.
Follow our journey at: www.facebook.com/SamVsVwm
Note: In 2016, Sam’s parents set up VWM Families Foundation. This Foundation will raise money for the two current VWM research projects in Amsterdam and Tel Aviv, and help support fellow VWM families.
Isabella. Age 10. Illinois, USA. Read About Isabella
Ever since my niece has been diagnosed with Vanishing White Matter Disease (VWM), I have been on a quest to #findacureforvwm.
Isabella was 2 yrs old when my sister noticed, that she seemed to stumble more than other kids her age. Her pediatrician said Isabella would outgrow it. But she didn’t. As she grew, she had trouble skipping and jumping.
When Isabella was 4, an orthopedic doctor tested her Babinski reflex and referred her to a neurologist. This was 2009. That’s when we heard “leukodystrophy” for the first time. MRI results were sent to a specialist in the Netherlands, Prof. M.S. (Marjo) van der Knaap .
Few months later, she diagnosed Isabella with an incurable, fatal genetic disorder called Vanishing White Matter (VWM).
Currently there is no treatment or cure for VWM. Isabella wears orthotics and struggles to physically keep up with peers. For long distances she uses a wheelchair to move around, especially the airports. In addition to this, she attends physical and occupational therapy and wears protective cap at school. However, she’s as happy as can be and brings laughter to everyone, especially her cousins.
Julie. Died 2010. Age 43. New Jersey, USA. Read About Julie
Julie’s story as told by her husband Joel.
I first met Julie in November 2002 at a dance. The theme of the dance was Fall in Love. I fell in love immediately with Julie.
Julie had a good heart and was a wonderful person. We were engaged 10 months later and were married a year later.
Julie was fine when I met her. She held down a job and lived on her own. She showed no symptoms of any disease.
Then in November of 2005 I started noticing changes in Julie. Her speech and gait were becoming impaired. Julie went to see her PCP in Spring 2006 and he sent her to a neurologist. The neurologist thought she might have MS but he referred us to hospital in Teaneck where she was examined by a doctor who first diagnosed her with Leukodystrophy.
In February 2007 we went to see Dr. Eichler in Boston. He confirmed that she had Leukodystrophy. She wasn’t diagnosed with a specific type at that time. She was able to walk and talk with some difficulty but by 2008 she started to decline rapidly.
She stopped talking and walking. She had difficulty swallowing and she used a wheelchair. Then in 2009 we began to see Dr. Johnson at Robert Wood Johnson in NJ to see if he could diagnose what type Leukodystrophy she had.
Unfortunately she passed away in 2010 without being diagnosed.
Thanks to Facebook and a Leukodystrophy group I was part of I contacted Prof. M.S. (Marjo) van der Knaap and sent her Julie’s MRI . Dr. van der Knaap diagnosed Julie with VWM although its not definitive but I believe it fits Julie — since she had symptoms that match VWM like no period, although she was ovulating and her white matter in the brain was affected by the disease plus no speech.”
Reese. Age 8. Ontario, Canada. Read About Reese
Reese’s diagnosis was and is a long journey. When Reese was born she was completely healthy, she developed just like any other child until the age of 3.
On November 1, 2011 she woke up and could not stand on her own, at first we put it off as she was tired from a long evening of trick or treating and she was just still tired, until she didn’t seem to be getting better throughout the morning. I took her to the local ER and was told her candy might have been drugged, every parent’s worst fear on Halloween. But after all the tests came back negative for drugs they had no idea what was wrong. So we were sent to London Sick Kids. After a week in the hospital, we received a false diagnosis of ADAM that would get better over time. So relieved that she was going to be OK we left and waited. And waited.
Six months passed and it seemed she was getting a little better but then I got a call from her daycare. She was screaming in agonizing pain telling her teachers to make it stop. I took her right back to Sick Kids and them still thinking its ADAM did a blood transfusion treatment with steroids. Our next Neurologist appointment came and with no improvement he started looking at other diagnosis.
First on the list was Vanishing White Matter Disease (VWM). Reese had more blood work to do and they then sent her samples to Georgia to be genetically tested for Vanishing White Matter Disease (VWM). August 29, 2012 was when we got the dreaded news that our daughter would have a short life. We would have to watch her deteriorate never knowing when we will lose her.
Despite every challenge that Reese has faced she has been strong through and through. She is a happy fun loving little girl and she is what gets our family through the hard days with her smiles and positive attitude. She has always been so full of life. Now coming to the end of her grade 2 year she is excited for a full summer of camping! She doesn’t let the fact that she is in a wheelchair stop her from doing things that she loves, and we don’t want this disease to stop her from the life she deserves! We need to find a cure! #believeinreese https://www.facebook.com/groups/1393612534219492/
Matthew. Age 11. Michigan, USA. Read About Matthew
Matthew was born on January 2005 a sweet healthy baby boy. For his first three years of his life he grew and acted the same as would be expected.
One day, Matthew was playing with his sister and cousins he hit his head and was unresponsive.
We rushed him to the hospital. Few days later after much testing, the news got worse. The doctors informed us Matthew has Leukodystrophy . That was December 2007. We had no idea what this was or what to expect.
When we read what this disease did to children it was devastating no cure. No treatment. Life expectancy very short. Matthew the fighter that he is began to walk again with a walker, braces and a soft helmet.
In January 2008, after genetic testing with Dr. Ralph Schiffmann we found out Matthew has leukodystrophy known as Vanishing White Matter Disease (VWM).
Matthew began to loose his abilities: first his walking, and shortly after eating became difficult for him, his ability to talk soon was gone.
This was the most difficult time for us, watching our son deteriorate. Trying to feed him with no results ,seeing him go from eating normally to barely sucking through a straw and Matthew trying to communicate that he can’t do it anymore.
From age 5 until present day. Matthew suffers from severe scoliosis that affects his breathing that leads to him having to wear the ventilator with oxygen it helps to expand his lungs.
Due to Matthew’s bone loss his bones have become very brittle that has caused him to have a dislocated hip. Matthew experiences a collage of ups and downs. He has slipped into a coma in which the doctors said we would not survive, he did.
Matthew has been hospitalized several occasions where the doctors had written him off, yet he survived
Our family was on a retreat when Matthew became seriously ill. He was taken to a local hospital where he was intubated and air lifted to Mott Children’s Hospital where he was on life support for two months with no chance of survival.
He is still here. Matthew is a hero and a miracle and is very much loved by all who come in contact with him. We will never give up fighting for him as he grows older. Gods will be done in all things.
Written by Matthew’s mom.
Follow Matthew’s journey on facebook: https://www.facebook.com/savingmatthew/
Micaiah. Age 3. Oregon, USA. Read About Micaiah
Until January 22, 2016, two-year-old Micaiah was a completely normal child. The pregnancy and birth were problem free, and she met every developmental milestone. She was an unusually sweet and cheerful child, who brought a lot of sunshine into our family.
On January 22, 2016, Micaiah suddenly became unable to walk without assistance. Her three-year-old cousin said that Micaiah had fallen down while they were trying to walk backwards as they played. We took Micaiah to the doctor, who stated that it was probably just some residual inflammation from the trauma of her fall and to just give it some time. X-rays revealed no broken bones. Micaiah did improve and was able to walk again, but not like she could before. Her walking was unsteady. After a return trip to the doctor, Micaiah was referred to a wonderful pediatric neurologist, who did an extensive history and examination. She told us some options of what might be going on, and then ordered an MRI and some bloodwork. All the bloodwork came back normal.
After Micaiah had her MRI done, we had a peaceful weekend because they let us take Micaiah home afterwards and never hinted that anything was wrong. Her appointment had been early in the morning, and we didn’t hear from the doctor’s office that day. We were going with the theory that no news is good news. However, Monday we got a call saying we needed to come right in to discuss the results of the MRI with the neurologist. We knew in our hearts that it was not going to be good news, but still we hoped and prayed that it would be something that could be fixed. The pediatric neurologist told us that Micaiah had leukodystrophy, but she didn’t know which kind. Her symptoms seemed to be pointing toward the extremely rare vanishing white matter disease (VWM). VWM is a neurological condition that destroys myelin, the brain’s white matter, thus causing the brain to lose its ability to send signals to the rest of the body. Currently only about 250 people worldwide are known to have VWM disease. VWM is progressive, untreatable, incurable and terminal. The neurologist ordered a genetic blood test and wanted us to see a genetic specialist at Oregon Health Sciences University to confirm.
On June 28, 2016 we found out that the blood tests confirmed that Micaiah has VWM disease. We have been blessed that we were able to receive a correct diagnosis in just six months. So many times it is misdiagnosed at first. Our lives changed irrevocably that day. We were supposed to watch our sweet and special little girl grow into a beautiful woman, not watch the skills she had learned and proudly conquered slowly slip away. Now she crawls instead of walking. Too soon she will leave us instead of living. Parents aren’t supposed to say goodbye to their children, especially when they are still children.
Our lives are a balance between letting Micaiah enjoy life to the fullest, and protecting her from trauma and fever, as these can accelerate the disease. Even being startled or frightened can accelerate the decline. We have felt every emotion. We have so many questions, but no one has any real answers because so little is known. We have rivers of tears, and an abundance of hugs, kisses, and love.
Micaiah can still walk if she is holding onto someone or something. She loves life and finds beauty in so many things that we overlook. Micaiah has a special and uniquely sweet personality. She is little, but loves with every cell in her body, especially babies. She would ask multiple times a day when she was going to have a baby. I would tell her in about 20 years, but now we know she most likely won’t be here in 20 years. (Interestingly enough, she has never asked that question again since we found out she had leukodystrophy.)
We have moved in with our parents, as we sell our two-story house, in the hope that eventually we can find a one-level house where Micaiah can maneuver her walker, and when the day comes, her wheelchair. We want it to become a home for her while she can still move around and enjoy it. We are thankful and blessed for every day we have with this precious girl!
Follow Micaiah’s story at: https://www.facebook.com/Micaiahsjourney
Sheana. Age 34. Virginia, USA. Read About Sheana
This is Sheana. She has defied the odds and turned 34 years old in September 2016. This picture captures her personality perfectly and was taken at the 2014 United Leukodystrophy Foundation (ULF) conference in Baltimore.
We first noticed that something wasn’t “quite right” with Sheana when she began to walk. That was the beginning of our journey.
The Shriner’s were wonderful to us, providing specialty doctors and equipment all through Sheana’s childhood. Unfortunately though, we had many years of a Cerebral Palsy diagnosis, then a mitochondrial disorder, and finally in 2012 we were confirmed with VWM.
Her ability to walk has declined to being fully dependent on a wheelchair and she can (and sometimes does) provide assistance with transfers. What a roller coaster ride it has been. Sheana loves to play on the computer, color, can read, count, do basic math addition (and subtraction sometimes), and loves to talk to everyone. She is a very social being. She also loves to travel.
Isaiah. Died 2016. Age 5. Missouri, USA. Read About Isaiah
Isaiah was born on October 13th. He was healthy and cute as a button!
Well, we thought he was healthy. After his 1st birthday, I started to worry because he wasn’t walking yet. I asked the pediatrician but she told me that he would walk when he was ready.
Finally, at 15 months he started walking. I will never forget the first time he walked. You could just tell that he saw this as freedom and a grand opportunity! Over the next several months he would pretty much run everywhere. He was in a hurry most of the time.
Then, over the summer before his 2nd birthday I noticed he was starting to fall more than normal. That turned into him falling down and not being able to get back up. He would put his hands down on the ground and try to pull his feet underneath him, but then he would fall on his face. It confused him and he would get very frustrated. Eventually you had to go over and stand him back up and he was off again. For the time being, we kind of wrote it off as “Oh, he is probably twisting his ankle when he trips. We will just keep an eye on it.” As the months inched closer to his birthday, his gait started getting a little more unsteady. I decided to wait until his 2 year check-up at the pediatricians office to ask about it. I don’t know why I thought that was a good idea and I will probably never forgive myself for waiting too long to ask.
His check-up was almost two weeks after his birthday because of time constraints. We went in and I explained the odd things I had noticed with his walking. The doctor checked every single thing she could to try to answer my concern. But she said that everything that could possibly be causing him problems were fine. That’s when she said “that means the problem is either in a nerve or in his brain”. I was so scared. I remember calling my dad and telling him what the doctor said. He said “It’s going to be just fine. I’m sure its nothing serious.” We all had no idea what was coming next.
The pediatrician referred us to a neurologist at the Children’s Hospital here in Kansas City. My mom went with Isaiah and I, and we were both so nervous and scared. We saw the neurologist and he thought Isaiah had a virus in his cerebellum that temporarily causes issues with walking. But, he wanted to be sure that there was nothing else going on and requested Isaiah stay at the hospital for awhile longer and have an MRI done. We wanted to say no because we wanted to believe there was nothing else wrong and it would go away in a week or two. The doctor insisted though. So we were admitted, Isaiah went through a horrifying experience for his MRI, and then it was the waiting game.
Finally, someone came up and told us that we needed to stay over night. The doctor reading the MRI found something of concern and wanted a second opinion. They said the doctor would be in first thing in the morning to tell us the results of the MRI. The next morning came and we were being told about Childhood Ataxia with Central Hypomyelination (CACH). We had no clue what was going on but we knew it was bad because one of the medical students was crying with us. Before we were able to leave the doctor had asked for a blood sample to do a genetic test. That would later confirm Isaiah’s diagnosis of Vanishing White Matter (VWM).
When we initially took him into the hospital, he could still walk some. He stumbled but he could get around. After the trauma of the MRI situation and them taking blood, we left the hospital with a 2 year old boy who couldn’t walk anymore. When he would try to take steps he would fall down.
We went home and did some research and we were completely devastated. At some point we had to cut ourselves off from doing research because we were making ourselves miserable. We had found the hardest details to swallow and that was enough for us. We had been referred to a doctor and two therapists. None of these people had even heard of Isaiah’s condition. They had no answers for us, but they took us anyway.
Isaiah had many changes in a short time. We were told that his mutated gene would give the least amount of symptoms and most likely progress the slowest. That has not been the case in my opinion, but we deal with it accordingly.
Since diagnosis, Isaiah has stopped walking, crawling, eating, using his arms and hands for certain activities. He has had breathing problems here and there, along with severe muscle tightness, shaking (ataxia), and serious constipation issues. That doesn’t even begin to list all of his problems but that gives you an idea. He has fought a long, hard battle and it makes me so angry that this happened to him .
I do want to share a few good things with you. Isaiah has the sweetest personality. He absolutely loves to make people laugh or smile. His positivity makes me want to be positive. He makes me a better person every single day, just by loving me. He also reminds all of us to be strong. He is fighting the hardest part of the battle but he still smiles every single day. My family has come together and we spend so much more time together because of Isaiah. It is a true blessing to have so many people in your life that love Isaiah.
You reach a point in the process of fighting where you realize that his quality of life is the most important thing. I know my family and I decided long ago that we wanted his time here on Earth to be good and joyous. We don’t want him to feel any ounce of sadness. We will feel it for him so all of his days can be spent happy. There are times where I still beg God to trade my life for Isaiah’s but I know it isn’t realistic. So, we will keep being thankful for every day that we get to play trains with the cutest little boy and keep on fighting.
Isaiah passed away on June 29, 2016 at the age of 5.
Arda. Age 5. Istanbul, Turkey. Read About Arda
My son Arda was born as healthy and very sweet baby boy on August 6, 2011. He developed just like his older brother until the age four.
He loved to go to kindergarten, play with children, swim and play football with his brother.
On June 6 2015 he got very high fever with seizure. We went to the hospital . After this he started to have a problem with his balance. He would fall down every-time. We went to a lot of doctors. Finally, September 2015 Arda had his MRI and the doctor said to us: “I think it’s Vanishing White Matter Disease (VWM) “. We were shocked . I didn’t believe it.
To be sure we sent his samples to be genetically tested for vanishing white matter (VWM). Few months later we got the dreaded news that our son would die.
It’s heartbreaking there is no cure for this monster disease . It’s heartbreaking to see my son deteriorate every day. Currently, Arda lost his ability to walk and stand. All we can do is live in “hope” and believe that one day the cure will be found.
Emma. Age 6. Ohio, USA. Read About Emma
Emma Hope Gilbert was born on October 6th, 2010, a beautiful and seemingly healthy 7 pound 3-ounce bouncing baby girl. She became an answer to her parent’s prayers and a very welcomed baby as she was the first grandchild on both sides of the family. Ryan and Shellene had tried for years to become parents and were a month away from starting fertility treatments when Emma was conceived naturally, because of this, her mother always believed that Emma had a special purpose and calling in life. The next four years of raising Emma were blissful as she grew and became her own person. She is a stubborn and curious child, full of life and laughter (she has the greatest sense of humor!) Emma is known for her contagious laugh and smile. She loves her friends and family, the color blue, playing outside and watching her favorite shows.
At two and a half, her mother, who was studying to become a special education teacher, recognized that she was not using enough language. After seeking help from specialists, Emma was considered a late talker and began speech and preschool services where she thrived. This was the only concern her family had ever raised about Emma with the exception of a few colds, she appeared to be a happy and healthy child. That was until around her fourth birthday in the fall of 2014. Emma’s teacher had noticed that her hands would shake when she was writing and coloring, but her pediatrician assured her parents that this was normal for children her age. There was a sigh of relief until January of 2015, when after playing outside in the snow Emma came down with a bad cold that turned into pneumonia. During this time, the shakiness in her hands increased and she began to frequently lose her balance. Emma’s walking gait became awkward, causing her concerned parents to take her to the doctor. Emma was referred to a pediatric neurologist at Akron Children’s Hospital who scheduled her for an MRI. On February 10th, 2015 the Gilbert’s world came crashing down. Upon completion of the MRI, Emma’s parents, maternal grandmother and paternal grandfather were asked to go directly to the office of the neurologist. While sitting in a small room, the doctor explained to them that her brain scans were consistent with those of children suffering from Leukodystrophy. As Emma’s family sat stunned, the doctor went on to explain that Emma would continue to lose her ability to walk, and eventually, her vision, hearing, swallowing capabilities and finally all cognitive functioning. Lastly, the neurologist told them that Leukodystrophy is fatal and there is no cure.
Heartbroken and scared, Emma’s father and aunt began searching for answers and help. They learned that leukodystrophies make up a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath, which insulates nerve cells. These disorders are progressive, meaning that they tend to worsen throughout the life of the patient. The word leukodystrophy comes from the Greek words leuko (meaning white), trophy (meaning growth), and dys (meaning ill). Putting these pieces together, the word leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter (myelin). All leukodystrophies are a result of problems with the growth or maintenance of the myelin sheath. There are many genes that are important in this process. For example, some genes are involved with the synthesis of the proteins needed for the myelin, while others are required for the proper transport of these proteins to their final location in the myelin sheath that covers the axons. Defects in any of the genes (called a mutation) may lead to a leukodystrophy; however, the symptoms of the individual leukodystrophies may vary because of the differences in their genetic causes.
After speaking with the few specialists in the country, including Washington DC, Emma’s family found themselves traveling to Pittsburgh Children’s Hospital. After a week of testing by one of America’s most renowned specialists in Leukodystrophies, they were not any closer to answers. It turned out that her MRI was consistent with a certain type of Leukodystrophy, called Metachromatic Leukodystrophy (MLD). However; her blood work and urine came back negative and did not confirm the specific type. Emma’s parents returned home to Seville feeling even more defeated. Emma began seeing a pediatric neurologist at The Cleveland Clinic, he would run two genetic tests to try and narrow down the specific type of Leukodystrophy Emma has; both tests were unable to confirm the type. In October 2015, Emma and her parents had blood work drawn for a newer genetic test called Whole Exome Sequencing (WES). This $10,000 test, is to date, the most comprehensive way to identify rare diseases. The Gilbert’s waited for almost seven months for answers, even though there was a 50% chance that WES would not be able to identify the faulty gene that is responsible for Emma’s disease. On May 5th. 2016 Dr. Parikh finally called and it was confirmed that Emma was suffering from Vanishing White Matter or VWM. This was 1 year and 3 months after the initial leukodystrophy diagnosis. Can you imagine spending 15 months just trying to identify the disease that is taking your child’s life? We know this disease will progress faster if she becomes sick or has a fever, or even if she gets a bump on the head.
It’s been almost two years since Emma’s initial diagnosis, she is now six years old. She has lost her ability to walk unassisted during this time but remains stable in other areas. She is continuing to grow and learn each day. She attends a Conductive Education Center 5 days a week for Kindergarten, where she works on retaining her motor skills and learning age appropriate curriculum. She has had success academically and is on the verge of reading and conquering beginning math skills. Each week she also works hard participating in speech, occupational, physical and swimming therapies. Her family has decided to make her life as special as possible, they try to live each day to the fullest. It is important for them to give Emma as many opportunities and experiences as they can while making sweet memories to last a lifetime.
During the summers of 2015 and 2016, Emma’s loving relatives friends helped organize three successful fundraisers in Emma’s honor. Her family has been so blessed and with these funds; they were able to make some modifications to their home for Emma’s ease and comfort and order necessary medical equipment, as well as keep up with rising medical bills. At this time, Emma regularly visits 5 specialists numerous times a year, as well as up to 4 therapists a week. As she grows, however, her needs change and her parents are concerned that their current home will need more modifications and changes to keep Emma safe and mobile. Fundraising will need to be continuous as each year, Emma’s needs have changed. It is mind boggling how quickly her equipment has become obsolete and no longer fit her specific needs. Her family would also love to start a non-profit organization in Emma’s name in order to continuously fundraise and donate the money to research to help find a treatment and CURE VWM and other Leukodystrophies. This will be Emma’s special purpose in life, helping herself and others end this debilitating disease, making the premonition her mother had while pregnant with Emma come to fruition. So please, if possible, help us raise awareness and funds for Emma and Leukodystrophy!
For more information, visit Emma’s Hope on Facebook: https://www.facebook.com/groups/1568102010113319/
Angel. Age 39. Texas, USA. Read About Angel
Angelica Maria Gallegos “ANGEL” (almost 39 yrs) met her milestones growing up and all seemed normal. She started school and did well in her first couple of years and suddenly her grades dropped.
We never knew why, just thought that she would struggle more than other children. She graduated high school at 17 and started college at 17 but always had to work very hard to maintain grades. She earned two degrees during this struggle with VWM.
It wasn’t until she started showing physical symptoms at age 26 (2004) that we realized something was very wrong. She started to fall, became lethargic, lost her balance easily; her body would bend and couldn’t straighten out. She also never had a regular menstrual cycle and menopaused in her mid twenties due to ovarian failure. This is also a symptom of VWM.
We went to a few different neurologists and was treated for 4–5 years for MS. She continued to get worse and her symptoms no longer mimicked MS. Her neurologist quit on us and told us to take her to a super neurologist. I then took Angel to the Southwestern Medical Research Center in Dallas and after months and TONS of testing they told me “she does not have MS and we don’t know what she has”.
They did however refer me to Dr. Juan Pascual who knew about VWM. He turned out to be the doctor that did the genetic testing to confirm his suspicions of VWM.
I was devastated when we met to get the results (took 3 months) and he explained the rarity of this disease especially in adults. He told us that he only knew of 13 cases (at that time) and that there was no cure. He told me to take her home, make her comfortable, spoil her and cherish my time with her. That was 2009.
I wasn’t sure I was hearing right so I asked, “Is this a fatal disease” and his answer was yes. I’m not too sure what else was said after that but Angel quipped back, “I should have bought a lottery ticket” because of the odds of getting VWM.
She told me on the way home that she was happy to take this illness on as long as her brothers didn’t. She mentioned that one brother had 3 children that needed him and the other was so young that his life was just beginning and she had no children.
She has faced this terrible disease with courage and grace. She has had so many hospital stays but always remains positive with a great attitude. She never complains or has pity parties. She has to use a wheelchair or walker at times and wears braces always but it doesn’t stop her. She wants to help everyone.
With all these children that are facing this disease, she told me yesterday that she is an organ donor but wants to donate her brain as well when she earns her wings.
Angel is our inspiration; she works hard and never gives up. I wish I had her strength — she makes me proud.
Vanishing White Matter disease (VWM)is under the umbrella of Leukodystrophy. Since it is so rare there are no public research funds for this disease. The only funds are those raised by the families trying to save their children. This afflicts mostly children. There are very few adults with this disease because the children don’t make it into adulthood.
Michael. Age 11. Ontario, Canada. Read About Michael
It was 2008 — Michael was 18 months old when he got a simple cold that he just could not shake.
It was the first week of February and we must have visited the Doctors office 3 times that week. “Its just a cold” “He will get over it” I heard it each time I took him there. “But he just wants to sleep” “He is not acting like himself” I would say, “He won’t even walk to the couch to watch TV”.
My husband finally suggested we take him to Sick Kids Hospital in Toronto. We took him on the Friday of a long weekend expecting to be in and out before dinner. It was a blur of tests and Doctors, a Cat Scan, Test for meningitis, the doctors were very concerned .
Lucky for us we had the head of Neurology working her shift in the ER that night. She came in around 11pm and asked several questions before sending Michael for an MRI first thing Saturday morning. Monday morning we got news we never expected or wanted to hear.
Michael has Childhood Ataxia with diffuse CNS Hypomyelination (CACH) or more commonly know as Vanishing White Matter (VWM).
I don’t remember much from that meeting, I do remember the Doctor telling me not to plan for his 10th birthday.
Michael is 11 now and its been a tough 9 1/2 years but we wouldn’t trade a minute in for anything. We have had good days and bad, Michael has always been such a happy social child, even on his bad days he never ceases to amaze us how positive he stays.