Monday, November 30, 2009

The trials of being my son's mother

With his nurses, caregivers and friends he's charming and lovable. With me he's angry and inconsolable

Marcy White

From Monday's Globe and Mail Published on Monday, Nov. 30, 2009 12:00AM EST Last updated on Monday, Nov. 30, 2009 6:28PM EST

As Jacob and I make our way down the crowded aisles at the grocery store, I am acutely aware of strangers glancing at us. They see a mother and son shopping together. But we stand out because we are different.

Jacob can't sit or stand without support, so I can't secure him in the seat at the front of the cart, or have him stand at the end, holding onto the metal basket as I push a food-filled wagon through the store. Instead, we make our way down the aisle with me pushing him in his wheelchair and him balancing our selected items on his lap.

Like many kids his age, Jacob does not enjoy this errand. As soon as I stop pushing him to grab an item off the shelf, he complains. Jacob knows what he wants, but unlike his peers he can't run ahead and explore on his own. This frustrates him, so he screams. As I try to console him, he screams louder.

While many parents can treat their little helpers to a candy or a bag of chips at the end of a shopping expedition, I don't have this reward at my disposal because Jacob can't eat.

My seven-year-old son has Pelizaeus-Merzbacher disease, a rare neurodegenerative disorder that affects all aspects of his life. Jacob cannot sit by himself, walk or speak. He is fed by a tube that was surgically implanted into his stomach when he was an infant. But he understands what is said to him and loves listening to silly jokes.



Ever since he was born, Jacob has had a special effect on people. There is something intangible that draws people, and makes them fall in love with him. Year after year, I have watched my son attract people to him and melt their hearts with his infectious laughter and mischievous grin.

But when they leave, he changes. He screams, he protests and he cries. Gone is the charm, the lovable smile and the twinkle in his green eyes. I am left with an angry little boy who is inconsolable. Why can't I elicit the same wonderful qualities that his nurses and friends do so effortlessly?

I am in charge of Jacob's care, his schedule and his endless appointments. I am the one who accompanies him to the doctors he hates. I am the one who holds his hand and walks with him in the hallways of hospitals while we wait for hours for the dreaded visits.

I feel like a nasty mother who allows therapists to subject him to painful and difficult exercises. It's no wonder he prefers his caregivers whose main goal is to entertain and please him.

As Jacob's mother, I know he is receiving the care he needs. His frequent screaming in my presence is purely behavioural, designed to manipulate me into giving him what he wants. My heart beats quickly as I run through the list of things that might calm him down, like chasing our cat Spot, helping him strum his red guitar, reading a book or telling him a story.

When nothing else works and I am at a loss for what to try next to quiet his screams, I resort to the phone call. At this point, Jacob has been yelling for so long and with such vigour that his face is red and his hair is so wet he looks like he just had a shower. Listening to his favourite person, Belle, on the telephone is a guaranteed mood changer. It's the one thing that will always calm him down and make him smile.

In my weaker moments I feel sorry for myself. I am upset that I can't soothe him. I am his mother; I should be his favourite person.

When the crisis is over and peace has been restored, I look at my curly-haired child and know that his behaviour, in some way, is typical for any child.

Most parents will agree their children behave better with those who aren't their parents. And Jacob, in this respect, is a regular child. Intellectually I know this, but it hurts. It's heartbreaking to witness someone else pacify my child, something I repeatedly try but fail to do.

Compared to Jacob, his healthy twin sisters are easy to parent. At 4½, they are typical children. When they are upset or hurt, they run to me. They get angry when I go out and leave them in the care of someone else. As their mommy, I can make everything better. My kisses fix their boo-boos and they love it when I play with them. Why can't I fill the same role for my son?

I try.

In September, after a stressful doctor visit, I brought Jacob with me to buy a coffee. He enjoyed sitting on my lap, watching the cars drive by the store. It has become our special outing, on our way home from an appointment or when we have a free hour on the weekend.

I look forward to these moments of quiet and peaceful interaction with my son. When I ask if he wants to come for coffee with me, he smiles and slowly nods his head. My heart expands and I feel a whoosh of love for my little boy.

It is hard being the one he associates with dreaded appointments. It is challenging to find things Jacob likes to do with me. But I will persist because I love spending happy times with my son. I will keep trying to be the one he wants when he is sad. Because I am Jacob's mom.

Marcy White lives in Toronto.

Illustration by Steve Adams.

Sunday, October 18, 2009

Jacob's Soul


I've been told that Jacob is a "pure neshama" or pure soul but didn't really understand what that means. I was given the following explanation and thought that maybe, on some level, it makes sense. You can make your own assessment:
G-d's Handicapped Children

(IsraelNN.com) Question

A friend gave birth to a baby with a rare condition that has rendered her severely handicapped. She is not expected to live much past her tenth birthday I can't understand why G-d does that. If life has a purpose, what's the purpose of such a short sad life?

Answer

Every birth is a gamble. A soul enters the world innocent and pure. But it may not stay that way. This world is a maze of diverging pathways, both good and evil and the choice is ours which way we go. Once a soul enters a body, it is free and therefore vulnerable to corruption while acts of good elevate the soul. Every act of evil makes a blemish on the soul.

Some souls are so pure it simply isn't worth the gamble These souls are too precious to risk being compromised by life in a body. They are too high to come down to this world. But the other option, not to be sent down at all, to never reach this world, would mean that we would miss out on meeting these holy and lofty souls and hearing their message.


So these souls do come down. But in order to be protected from the potential evils of an earthly existence, they are sent down into a body that will not compromise their holiness. They enter this world in a form that is above sin above evil. From a purely physical perspective we call them disabled or handicapped. From the perspective of the soul, they are protected. They will never sin. Their sojourn in this world is often brief and, in terms of this world, may seem sad. But they have retained their purity. And they have fulfilled their mission.

These special souls remind us that true love doesn’t need a reason. We often love others for what they give us. We love our children because they are cute, smart and high achievers; we love our spouse for the pleasure and contentment they give us; we love our parents because they care for us. This is love, but it is not pure.

When a child is born that will never achieve worldly success, cannot provide the usual source of pride for her parents, all extraneous reasons to love her fall away and what’s left is the purest love that there can be. These children are lovable not because of what they do for you, and not because of what they will one day become, but simply because they are.

These pure souls remind us what love should be. Only such a pure and holy soul can elicit such a pure and holy emotion. We can only stand in awe of them, and the parents and friends who care for them. And we can only thank them all, for giving us a glimpse of what true love really means.

Tuesday, August 4, 2009

A fantastic experience



How can I properly thank Jacob's princesses for giving him the most incredible experience of his life?
By all reports, including his, he had the best 21 days imaginable. Every picture I saw (and I'd love to see more!) showed him smiling. And the smiles were different from his regular grins - he had a more relaxed look about him, something I can't quite explain but do notice.
Heading up to camp I was pretty sure he'd have fun. Daily doses of Bracha, Shoshana and Batsheva would ensure a happy time. But he had more than fun. Not surprisingly, he added quite a few princesses to his harem and loves being the center of attention (my son is not shy!).
I was thrilled when I heard he also made a friend, a boy around his own age. I was told that Nosson and Jacob were inseparable. Jacob frequently joined Nosson and his family at meals, and when his parents wanted to locate him, they simply had to find out where Jacob was.
When we drove up to get him at the end of his camp stay, Andrew put Jake's things in the car and we were ready to go. But his princesses were not willing to relinquish their prince.
As Jacob was passed from group to group, he left a stream of teary-eyed girls in his wake. Each person wanted to have their last moment with our special boy. They wanted to watch his face break into a huge smile when he heard their jokes and listen to his squeaky giggle. It was hard taking him away from them. The one thing that made it easier for Jacob was having Bracha in the car next to him for the next 6 hours!
Thank you to all the warm and loving people who opened their hearts (and arms!) to Jacob at camp. You helped him have a fantastic experience.

Sunday, July 12, 2009

The Time of His Life


Today Marcy and I took the twins up to Jacob's summer camp to see how he's doing after 12 days away from us. We've been talking to him on the phone and texting Bracha daily, but we hadn't seen him in ages. From the moment we got there till the time we left he was so excited and squirming around. He looked great. Older and tanned too.

I think he was really happy to see us and to show us his camp. He's made a ton of friends at camp. Everyone loves him. As always, he's the center of attention with a swarm of princesses around him. I think he was glad we came. I can't speak for Marcy, but I was a bit relieved to see him in his element so happy, truly having the time of his life.


video

Monday, June 15, 2009

Jacob's report card

Jacob attended Ledbury Park Hebrew school on Tuesday afternoons after school during this past school year. He was placed in a classroom with typically-developing kids the same age as him. He had a great teacher and enjoyed coming to class each week.
Contrary to the ignorant statement by a director of education at a local Hebrew school who believes that exposing young children to kids like Jacob is "too traumatic", Jacob's report card illustrates a perfect example of how everyone can benefit from being around my incredible son.
Morah Hadassah, Jacob's teacher, summarized Jacob's year in the following report:
"Having Yacov in our class really added to the learning experience. His bright smile and big eyes always brought joy to our class. Yacov's favorite part of the day was davening, whenever we came across the word "Yacov", all the kids would point to him. Yacov would get so excited each time and everyone enjoyed watching his face light up. Yacov shows an interest in learning about Judaism. Having Yacov in our class was more beneficial for all of us - the students learned from him and loved reaching out and giving to him. When Yacov was absent or late, all his classmates would ask for him. The students love Yacov and looked forward to his coming each week. I truly enjoyed having Yacov in my class. Thank you for the experience."
And I thank you, Faigel and Hadassah, for giving Jacob this wonderful opportunity.

Tuesday, June 9, 2009

Jacob and his Princesses - from Canadian Jewish News - June 8 2009

Jacob and his princesses
By MARCY WHITE, Special to cjnews.com
Monday, 08 June 2009
“Have you lost your mind?” Megan shrieked into the phone after I told her about Jacob’s summer plans. My friend did not attempt to hide her disapproval, which was heightened when I told her three Orthodox Jewish teenagers would be responsible for his well-being.

Maybe I did lose it, I’m not sure. And I started doubting my parental abilities, again.

Jacob, my green-eyed son, has Pelizaeus-Merzbacher disease (PMD) a degenerative neurological disorder that prevents him from sitting by himself, walking, talking and swallowing. It does not, however, impair his ability to understand conversations or affect his amazing sense of humour.

As a parent of a child who cannot speak or move independently, is it irresponsible of me to send him to Camp Yaldei, an overnight camp, with teenage caregivers whose lifestyle and beliefs are different from mine?

The first time I noticed the figures in black was when I was a child going to the bagel factory with my parents on a Saturday night in Montreal. The bagels were hot; the car windows would fog up during our drive home and filled the interior with the aroma of warm bread and sesame seeds. I remember watching the men dressed in black suits and black hats during the hottest nights of July.

Following a short distance behind these shadowy figures were the women, wearing shirts with long sleeves and long skirts, pushing baby strollers, older children holding the hands of their younger siblings. I watched these people and wondered why they chose to have so many children, why the women agreed to wear wigs, and I thought how awful it must be for the children to be raised without television.

When Jacob was 16 months old, I hesitantly enrolled him at the Zareinu Educational Centre, a school for children with medical, physical and developmental challenges. I was reluctant to take him to the program for several reasons, one of which was that it was run by the Orthodox Jewish community. I feared Jacob would not be accepted because our family was not religious; we did not even belong to a synagogue.

At first, I was uncomfortable in that surrounding. It was difficult being in a group with eight babies and toddlers with various challenges, but it was even harder when I realized that Jacob’s issues were the most severe and complex in the class. Nobody commented when I wore jeans to class instead of the long skirts preferred by the other mothers. When Jacob was engaged with a therapist, I had time to chat with the others. I learned a lot about their religious beliefs, and I started to realize how misinformed I was.

A few years later, I saw a flyer for a weekly program for kids like Jacob, children with special needs. Yedidus, which loosely translated from Hebrew means “friendship,” was held at Bais Yaakov High School, an Orthodox school for girls. I considered sending Jacob but was concerned that the lack of adult supervision in the program would expose my son to danger. My friends, Megan included, ardently supported my decision. They convinced me that I should not leave my defenceless little boy in the care of girls who some would consider children themselves.

The following year, when Jacob was four years old and I was desperate to find an activity for on the weekends, I enrolled him in Yedidus. The group was organized by girls dressed in long, dark skirts, their hair styled in identical ponytails. They were kids in grades 10 through 12 and ran the program every Sunday morning when most teenagers are still sleeping, tired from a night out partying with their friends.

This religious community gives their children more responsibilities at an earlier age than those who lead a secular life. They marry younger, have children younger and are taught to be charitable, financially as well as with their time, at a much younger age. A 16-year-old in the Orthodox community is much more responsible and more interested in helping a neighbour than a typical teen, who is more concerned with the hottest music and the latest trends.

Some of the most wonderful examples of compassion and love are showered on Jacob when these kids play with him, talk to him and spin him in circles to make him laugh. These girls, who dress in skirts that fall four inches below their knees, help reinforce Jacob’s younger sisters’ belief that princesses only wear skirts.

Jacob is a fixture at Bais Yaakov on Sundays and is adored by almost all the students at the school. At 10:30 on Sunday mornings, as I push his wheelchair into the driveway of the school, Jacob starts squirming. His obvious excitement when he realizes where we are is restrained only by the seatbelt and foot straps that secure his body to his chair. The chorus of high-pitched “hi, Jacobs!” erupts as soon as the first teenager spots us. As we enter the building, a counsellor affectionately whisks Jacob out of my arms and plants kisses on his soft cheeks.

Sarah, Jacob’s counsellor during his first year at Yedidus and his favourite person in the world, has seen Jacob at his best and at his worst. Just mentioning her name makes him smile. Hearing her raspy voice on the telephone is enough to stop him from screaming regardless of the cause of his upset. She has witnessed Jacob’s chocking episodes, seizures, hives, general discomfort, and more than one episode of projectile vomiting. She is extremely capable with Jacob, and I often forget she is a teenager.

Some of my family and friends shake their heads in disbelief (or is it disapproval?) when they hear we have no qualms about entrusting Jacob’s well-being to this group of girls. They look surprised (or is it shocked?) that these kids know how to feed him through the tube in his stomach, an activity most adults in my life are too fearful to learn. I imagine they would consider me irresponsible (or is it crazy?) when they learn about his latest adventure, three weeks at an overnight camp in a neighbouring province.

But I won’t let their opinions sway my decision this time. I know Jacob will have an incredible experience surrounded by people who love him and enjoy making him happy. I know he will be safe. And I know that I am lucky to be part of this warm and generous community.

Marcy White lives in Toronto.

Mother Knows Best - from Exceptional Parent - May 6, 2009

From EP Global Communications

Mother Knows Best

Posted in: Regular Story
By Marcy White
May 6, 2009 - 7:22:06 AM

“I’ve never seen anything like this before” were the first words I remember a doctor stating the moment my son was born, as I listened to the donkey-like sound my son made. From where I was lying on the delivery table, it looked like his ribs were made of rubber and folded in half with each noisy inhalation. With every breath he took, his ribcage would collapse. Of course the doctor had never experienced this. We learned, five long, agonizing days later that it was because both of Jacob’s vocal cords were paralyzed, something so rare that the specialists at Sick Kids Hospital had not seen in over 15 years.

Until then, my only experience with doctors had been for routine check-ups and the occasional sore throat. Doctors had the answers; they diagnosed the problem and prescribed the remedy. And it usually worked. Not this time.

It wasn’t until 10 months after I heard those frightening words that Jacob was diagnosed with Pelizaeus-Merzbacher disease (PMD), a rare, neurodegenerative disease. I was at home playing with my son when the telephone rang. The doctor informed me that one of the many tests Jacob took came back positive. He had PMD. I had never heard of this disease and did not know what it meant. When I started asking questions, I was informed that there is no cure and no treatment available. According to the medical professional, our only option was to treat each new symptom as it appeared. I would not accept that this was the only option. My role as a mother was to keep my son happy, healthy, and safe. I would not sit back and wait for the disease to destroy Jacob’s body.

I lived my first year of motherhood as if I were in a bubble. While other new moms were taking their babies to music classes and various “mom and tot” programs, I was at home, isolated from the rest of the world. Because of his weak immune system, a simple cold was life-threatening for Jacob. I was not willing to risk infection by inviting other children into our home for visits or taking him for a walk in the nearby mall.

Instead, as I held him for two hours at a time for his feeding, his tiny head would get so hot it soaked through the layers of blankets that were between us. Without stopping, I was uttering the same two syllables in slow motion: Jaaaacobbbbb, Jaaaacobbbbb for hours. My biceps were burning from holding his little body as still as possible as any movement might cause him to vomit. This process was repeated every three hours. My clothes were drenched and stank from partially digested breast milk that was painfully pumped for 20 minutes, seven times a day, month after month.

Being a mother took on a new meaning for me. Yes, I held my son like any new mother, but it was different. Very different. Nothing like I thought it would be. I had to make sure I did not dislodge any of the tubes that helped him live. Yes, I fed my son like any new mother, but it was different. Instead of holding him to my breast or placing a bottle in his mouth, I had to connect him to a feeding system that dripped pumped breast milk into a tube that was inserted into his stomach, bypassing his mouth. And yes, eventually I was allowed to take him for walks in his stroller, but it was different. We walked in the halls of the hospital, stopping occasionally so I could place a suction tube in his mouth to help him breathe.

This was not the way I visualized motherhood. Seeing a healthy child was so painful for me, I felt like I would collapse in tears. When I saw a baby that was the same age as Jacob, I had to look away. I couldn’t help thinking my son should be sitting like that by now; he should be able to smile, too. When I listened to a mother complain about her child needing glasses, I wanted to scream at her and tell her to be thankful for having a child who could walk and talk.

As we were given the freedom to venture farther away from his room, I started gaining confidence in my ability to feed him by myself and was beginning to overcome my revulsion at threading a tube up his nose and down his throat for the deep suctioning he sometimes required. I was terrified. I can still feel my inexperienced hands trembling as I snaked the tube in his nose until it reached the point where it would turn, move down his throat and clear the thick mucous that was impeding his airway. I was not enjoying this part of motherhood. Not one bit.

Then, all of a sudden, I realized that I had changed. Somehow along the way, in the midst of all the feedings, appointments, and isolation, I seemed to have stopped saying that I couldn’t handle it. I stopped feeling like I was going to scream every time we were told that there was nothing anyone could do. I stopped shaking every time I had to suction Jacob, and I stopped apologizing to strangers in waiting rooms for Jacob’s screaming.

Eventually I stopped saying “I can’t handle it.” I don’t know exactly when, but at some point, I realized that I can, and I had to.

It is well known that mother-bears will stop at nothing to defend their cubs. And that was me, I realized. Perhaps my child had disabilities, but still, I was a mother-bear. I had found strength and courage from reserves located somewhere deep, deep inside me. I started to question the medical professionals. I began to realize they did not have answers, and even though many were reluctant to admit it, I learned they knew little about how to help Jacob. But as time passed, as I became more comfortable with the tiny fighter who is my son, I realized that I could not depend on the doctors for the answers. Jacob is my son. I know him better than a doctor who examines him for 10 minutes, despite the plethora of degrees hanging on his office wall.

The doctors were doing their best, but I was the expert. During one of our many hospital visits, a doctor told me that he wanted to surgically remove a piece of Jacob’s skin for analysis. I asked why. I wanted to know if the results would lead to a treatment or if it was simply to add more details to Jacob’s voluminous medical file. At another appointment, a specialist suggested a second MRI. I weighed the potential benefits against the risk of not being able to remove the breathing tube required for the anesthetic. As my confidence grew, so did my voice. I decided that any medical test or procedure that Jacob would undergo must have the potential benefit of bringing us closer to a treatment. I would not let him suffer for the sake of gathering additional information that would be useful only in the context of academic publications about rare disorders.

Some of the professionals I’ve encountered have labeled me a demanding parent; others call me difficult because I don’t blindly accept what they say. I know what I am. I am a mother-bear who will stop at nothing to protect her cub. I will stop at nothing to make sure Jacob has the happiest, healthiest, and safest life possible. Because frankly, that’s my job.

For more information about PMD, visit curepmd.com.


© Copyright 2009 by EP Global Communications

Wednesday, April 22, 2009

Great News for Over Expressers

No I don't mean good news for bloggers or drama queens, I mean great news for PMD kids with duplications.

Marcy and I just got back from Wilmington DE where we participated in the PMD Symposium at AI Dupont Hospital. The first day was action packed lectures given by several scientists describing their latest publications (or soon to be in some cases).

Among other things, Dr. Klaus-Armin Nave from the Max Planck Institute for Experimental Medicine in Germany presented some experiments that showed that an anti-progesterone drug can reduce the PLP expression in his transgenic mice with PLP duplications. As many of you already know, turning off the PLP gene may have a therapeutic effect since the null syndrome is not as severely debilitating as most other PMD variants. Now we just need that drug to go through the FDA approval process. Fortunately, the drug is being developed for a lucrative disease like breast cancer, so the pharmaceutical company has a real vested interest beyond just our poor over expressing friends.

Dr Skoff presented some more interesting work with the same over expressing transgenic mice from Dr. Nave. He found that a simple anti-biotic could help prevent oligos from dieing from apoptosis. This could reduce the severity of the condition and slow the degenerative process. I believe Dr. Skoff and Garbern are trying to get NIH funding to do further studies to get this closer to treating our over expressing PMD kids.

While, I'm very happy to see this tangible progress, it does not help my Jacob who has a very severe point mutation, T257C. One obvious option is to see if Dr. Nave's anti-progesterone helps mutant mice with a condition more like Jacobs such as the Jimpy. Don't worry, Marcy and I are on it like a wet rag!

Today I had an interesting conversation with a guy from the NIH Chemical Genomics Center. They have a fully robotic system designed to perform massive in-vitro drug tests quickly. For example, they would do 3000 different compounds in 15 different dosages each in a sample of 100. With controls it's pushing half a million tests that they run automatically in an afternoon! Of course you need to develop a suitable assay - or screen test - that can be automatically executed with their robotics. We first heard the shotgun approach for treatment at the previous PMD Symposium in Wilmington from Dr. Kamholz nearly SIX years ago. I can't believe we didn't do anything about it in all these years! Can Jacob ever forgive us? Well, better late than never I figure. I will follow up with this guy to see what's needed to take our shot in the dark as soon as possible.

There are a number of other interesting research efforts still worth exploring. In fact, Dr. Kamholz told us about a Canadian with some very interesting primary research with transgenic mice in search of the keys to PLP regulation. You'll have to wait for another blog for more on this.

Tuesday, April 21, 2009

Meeting Other Families


Andrew and I attended a PMD conference this past week where we had a chance to meet with some of the researchers and hear about the latest developments in the field. That's what I expected. I also expected to meet some families who have kids with PMD.

What I didn't expect was to feel so comfortable in a room with so many wheelchairs, suction machines and several kids being tube fed at any given time. Basically, we were in a room with families like ours. Many had healthy kids, in addition to the PMD ones. There was something comforting about being surrounded by this group of people.

Some kids were able to walk and speak. Most kids looked more comfortable in their wheelchairs than Jacob ever does in his. An amazing thing was that most of these kids are happy and have the same silly, mischievous sense of humor that Jacob has. There was a definite feeling of unity among these families. We share something that only we can fully understand. That part was great.

The sad part was that last time we were at this conference, shortly after Jacob was diagnosed 6 years ago, we looked around the room and thought that Jacob looked so much stronger/healthier than the kids we met. This time things were different: Jacob is older. He has a severe form of the disease. And it's degenerative, so it gets worse over time.

Looking around the room last week, I realized that most of the kids seemed healthier than Jacob. They can move their limbs more freely and are more relaxed. This is when I was forced to acknowledge that the degenerative aspect of this disease has started to affect Jacob. Despite all the therapy and movement, it is still progressing. This makes me more determined to find a treatment or push for a cure. Even a small step forward in treatment options can have a profound affect on Jacob's quality of life. But we have to hurry.

Sunday, March 22, 2009

Proud Sponsors of the PMD Symposium April 17/18 2009

The PMD fund of Jacob's Ladder is proud to sponsor the


Pelizaeus-Merzbacher Disease Symposium



A world where there is no PMD: How to get there through Research

Friday and Saturday, April 17-18, 2009 -- Alfred I duPont Hospital for Children Wilmington, DE



Marcy and I are happy to sponsor the second PMD Symposium mid next month. Of course we will be attending as we did five years ago when we first learned of the horrible disease that plagues our Jacob. We met so many valuable US based medical researchers who have helped us with our ongoing research efforts to find a treatment for Jacob and other boys like him.

While our first two experimental investments have not yet produced treatments, we believe we're getting closer and closer. In fact, we're already in negotiations for our next investment with a speaker who will present some recent work at the symposium next month. Expect to hear more about this soon. We are very excited about the potential for near term treatment opportunities with this next round of experimentation. Some experimentation using off-lable medication with animal models with PLP duplications has already successfully shown down regulation of PLP expression along with verifiable and quantifiable clinical improvements. We hope to show that similar benefits can be had with severe point mutations like Jacob's.

This is extremely exciting and we can barely contain ourselves. But as you probably know, medical research is both extremely expensive and unbelievably time consuming. Your donations are greatly appreciated and going directly to fund very important research that could help Jacob and other PMD kids like him very soon. We'll keep you posted.

Tross out

Monday, March 2, 2009

Sheltered from my son, by Marcy White

We're very proud of Marcy for getting the following article published in today's Globe and Mail, Sheltered from my son, by Marcy White March 2, 2009

Sunday, March 1, 2009

It's official. They are seizures.


I can't say it came as a surprise, it's something we've been wondering about for a long time. We even have the prescription for the medication all ready to go, but we were holding off, waiting for confirmation. It came. Today. Jacob has been having seizures.
They aren't the typical thrashing-around-just-like-in-the-movies kind of seizure. Nothing with Jacob is 'typical'. They mostly happen at night, as he's falling asleep and while he is asleep. It looks like he just heard a loud noise and was startled. It's over within seconds but it happens every night, and several times a night when he is sick. We finally caught a few 'good ones' on video (thanks to the video camera mounted over his bed so we can watch him while we are in another room during the few hours we are nurse-less between shifts) and forwarded the clip to his neurologist.
So now we have another medication to introduce into his small body. He is on so many different meds: 2 for reflux, 1 for muscle spasms and 1 for his lungs. And now one for seizures.
The one bright note in this is that his new medication has sometimes shown a positive side-effect in PMD kids - it may slow down PLP production, which in English, means that there is a chance it will lessen the severity of the PMD symptoms. So for now, we're keeping our fingers crossed and hoping for the best: no more 'startles' (it's still too hard to call them seizures) and fewer symptoms.

Monday, January 19, 2009

It's all about the SMILES

Those of you who know us well, already know how this beautiful child can scream inconsolably for hours on end, especially when he's with mommy or daddy. Where's Bracha when he needs her?

The picture you see is a rare moment captured forever. You see Jacob does have fun with his dad from time to time. Yesterday, I had Jake for the morning because his normal Sunday program was canceled this week so the girls could study, or not ;-). As soon as his nurse left, we jumped into the car to go to Home Depot. How's that for a masculine thing to do on a Sunday morning?
Jacob was pretty good in the store; only complaining when we stopped for too long while I tried to find something. As we were driving home, I asked him what he wanted to do. After several strategically prepared yes-no questions, he said he wanted to go to "Unky's place". He refused to agree to behave if we went, but he was probably smart enough to know I would still go there even if he didn't promise to be good. Sure enough as we got to Bloor, he'd had enough. I managed to coax him the last couple miles to Morty's place.

He was like a different kid. He was so happy to see his Unky that I just focused on all my fixit guy tasks while Morty and Jacob did what they do. When it was time to leave, Morty passed me Happy Jacob to put on his coat. We managed to have a sweet moment before leaving and Mort was able to catch it digitally forever. Thanks Mort, but an even more special thanks goes to Jake!

Saturday mornings are an interesting contrast of highs and lows; beginning with the lows. Usually, Emily leaves at 9:00 am on Saturday morning. But this past Saturday she had to leave early. It usually doesn't take more than a couple minutes of her absence for the screaming to start. This Saturday was no different except that we had more time to kill. We piled all the kids into the car and turned on "Mamma Mia!" in the car. The girls loved it and Jacob tolerated it. We went to my parents house to water plants etc. followed by our first trip to Home Depot for the weekend. Jacob hit his threshold while we were waiting for someone to get pricing information on our way out.

We dropped off the girls and went to his weekly swim with daddy at the Bloorview Snoozlen pool. Again, Happy Jacob returns! He loves the water. He always likes to start with this hose that can spray warm pool water everywhere. I think he likes to get people in the face - including himself. After this warm up, we do a little daddy dunking and eventually end up "barefooting in the bubbles" That's when we get the screams of joy followed by hearty "belly laughs" that can be heard by the deaf woman who runs the pool! I really love our Saturday swims and I know he does too.

Saturday, January 10, 2009

The most incredible letter to Jacob


It's been such a long time since we've updated this blog and I thought it would be a great way to restart the postings by sharing a letter that was recently written to Jacob by one of his teachers. She manages to sum up the effect Jacob has on so many people in such a beautiful and eloquent way:

To my very special friend Jacob,
So you were my first friend to know I was getting engaged and it was so much fun telling you, but then again, with you everything is so much fun from dancing in the bathroom, to writing on the wall to catching up on the latest gossip.
Jake, what is your secret? What makes everyone you see fall in love with you? Is it the twinkle in your eyes, your delicious smile or is it something much deeper? I think the fact that a little boy like you can persevere and work so hard with such joy in life, brings out the best in everyone you meet. You just can't help loving a teacher like you.
Jacob, I think you're...an inspiration!
Keep making your parents, family and friends proud. I love you always.