If you were paying attention to my FB posts you’d know what my big news is... The cat’s out of the bag!
Valentines Day I’ll be in FL at the WORLD conference. The conference is sponsored by the Lysosomal Disease Network (LDN) and the National Institute of Health (NIH). Three years ago, Jeremy and I went to this conference, it was the first time that I met many of our current scientists in person. Way back when, I shared my experience about our first WORLD conference and our meeting with Brett Crawford, co-founder of Zacharon. Brett’s son was at the conference, Brett introduced his son to Jeremy and I as the parents of a child that he was going to help save....
Today Zacharon has changed hands twice, first they were sponsored by Pfizer to help fund their treatment that would be developed for Sanfilippo and our sister diseases. A few weeks ago Zacharon was acquired by BioMarin. When I asked Brett if he was happy about the merger, he responded simply: “It will be good for the MPS program.”
There are so many up’s and downs in our journey. Many day’s I just want to cry. Two and a half years ago Zacharon had the first potential treatment in the pipeline for Jonah. We had so much hope that it would be available today. Now I have no idea where it stands. We can only hope that BioMarin takes it to the next level and fast.
The good news. At this years conference Sean and I have been awarded a poster presentation. Meaning we will have an actual poster featuring the ODDT app (click the picture on the side bar) and how it works for rare disease groups like Jonah’s Just Begun. I have always wanted to be the Mom with a poster between all the PhD’s.
More importantly Alexey Pshezhetsky, our primary investigator and his post doc Carla Martins will both be presenting their findings on our mouse model.
Alexey’s talk is titled: “Mouse Model of MPS III type C Defines Pathophysiology of the Disease.”
Carla Martins talk is titled: “Evaluation of Brain Inflammation and Cognitive Abilities in the Mouse Model of MPS III Type C.”
I’m so thrilled that this evidence is being presented and I'm very proud of our scientists. This is a great honor and a huge mile stone for us. Three years ago there wasn’t a single talk on MPS III C, now there are two!
Alexey wasn’t at the first WORLD conference that Jeremy and I went to, but Brian Bigger was. A trip down memory lane, how it all began.... It was at WORLD 20120, that we began the talks with Brian about conducting our gene therapy.
A few months later JJB flew our scientists out to NY for a patient population meeting. JJB and JLK had just granted Alexey a bit of money to hire a post doc and get started on our chaperon therapy. At the patient population meeting, Alexey informed the rest of the group that our mouse model was in the works and that he had just applied for a huge grant from the Canadian Institute of Health.
Alexey was still in need of a post doc, unable to find a suitable candidate. Raquel passed on the CV of a post doc that came highly recommended from the Portuguese lab that diagnosed her daughter, Joana. So I passed along Carla Martins resume to Alexey. They met and Alexey hired her! Now look at where they are!
Alexey did win the Canadian grant for $650,000. He attributes his winning the grant to the fact that he had the family support. Carla was able to continue her post with Alexey after winning a full scholarship from the Portuguese government. Today Carla works full time on our chaperon therapy.
In a few weeks I will be sitting in an auditorium full of scientists and filled with hope and pride as I listen to our scientists describe their work on our disease to the rest of the scientific community.
Here is the clip that announces our trip to FL.
http://www.raredr.com/advocacy/videos/patient-advocacy-101-just-do-it-and-do-not-stop-eg-johansjustbegunorg
We have come a long way but we have so much more work to do. Yesterday Sean and I had a conference call with Genzyme, another huge drug company that supports treatments for rare diseases. I guess I should be honored that the VP’s of Genzyme wanted to talk to me. There were six of them on the line. They all had the chance to watch the above clip above.
One of the VP’s said to me that his jaw dropped watching that video he was in awe of everything that we had done. That was a nice thing for him to say, but it means nothing without a treatment. Genzyme was on a fishing expedition, we can only hope that they are thinking about expanding their rare disease department to include ultra rare diseases. They asked me a ton of questions. They were very respectful and treated me as an equal, not a desperate Mom. Not once did anyone ask me how Jonah was doing, I actually like that. The phone call was business.
One thing resonates through me, one VP kept saying: 'Wow... We consider an Ultra Rare disease to be 1,000-5,000 patients. Your disease is ultra ultra rare."
I have such a huge chip on my shoulder about our patient population. Another VP followed up with: "How is it that you think a treatment for your disease would be cost effective for a drug company to invest in?" So I gave them my elevator pitch. Nobody said yeah or nay.
They gave me information about their future research endeavours, that will someday be beneficial to our kids. They promised to help me anyway they could and would follow up with me. But they did not make any promises on how they would help me. I told them exactly what I needed... What more could I say to them? I take stock in knowing that we’re on their watch list.
I’m knee deed into promoting and planning for our FlASH MOB for Rare Disease Day.
I’m working with the Global Genes Project to help me find other rare disease advocates in my area that would like to participate in our Flash Mob and unite in raising a voice for rare diseases in general.
All the projects that I have been working on over the past few weeks have really got me thinking about the importance of having our government support our research and allocating more federal dollars to the NIH for grants to diseases like Sanfilippo. Thinking about Alexey’s work, he won that $650,000 grant from the Canadian government. Carla was able to continue her work with Alexey because of a scholarship that she won from the Portuguese government. I have applied for two NIH grants from our government and didn’t win either. Having Genzyme ask me how it was that I was going to convince someone to sponsor our drug development. Our government has got to intervene. We can’t do this alone. I haven't had a benefactor offer me a few million and Ive been searching. I strongly suggest that anyone who can make it to the RDLA's Rare Disease Day-Lobby Day to go. They will give you the opportunity to experience capital hill and talk to your members of congress.
This is why the FLASH MOB and World Rare Disease Day is so important to me, we have to unite and raise our voices. Make an impact on the voters, show them what we need and why we need it. There are 30 million Americans suffering from rare diseases.
Last Sunday was our first rehearsal for the Flash Mob and it was a blast! The dance was super easy, when broken down and taught to us by the choreographer. I hope that we can gather at least 40 dancers to join us. If you’re in the area, please register yourself for the event and come and meet up with us for at least one of our rehearsals, you’ll be surprised at how good it feels to take part in something that can make a difference in the lives of so many.
Follow this link to register and to learn about the logistics. xo Jill
http://campaign.r20.constantcontact.com/render?llr=ptgm6agab&v=001QORyCDlYxyufCAMD9R-EIDI4gSyi9EgXIn8dOFk4DEYxYBC6My5P4Ui7B8sw3aHVL1XMMPtLIlGUwChbQZKdaXhgi6HNhxwKfFGOEHfyk1T5oIsXlYWECJoVtbsVlWgzMQKX-_eRvNHrYVPkYac4ozqZ_eQG55JeGm7yjqP8lPVe7PxQcsBArhJdbAlNphPDXDei-V4xQaH_06vaLrS_gCAkbRICp4caNhJunzgtwvwo3Y1X9iNLsw%3D%3D
Wednesday, January 23, 2013
Wednesday, January 16, 2013
Move it Move It Move it!
Move it Move It Move it.
It just sank in, that my plate for February-March is ambitious even for my standards!
First Up, I need Dancers for our World Rare Disease Day (WRDD) Flash Mob event and I won’t take no for an answer. Any able bodied New Yorker is enthusiastically encouraged to participate! After viewing the video don’t tell me that you’re not able bodied enough. We’ll take all ages, all skill levels, no dance experience necessary to perform a fun hip-hop routine.
We have two rehearsals scheduled- the first for this Sunday 2:00 pm at Work Space, 275 Prospect Park West at the corner of 17th. The 2nd is on the 27th of January at Work Space. More rehearsals TBA.
But in the mean time start practicing. YouTube video is up now, click the link.
The dance will happen at an undisclosed location in Brooklyn (Participants will be given the location.) Our dance will be accompanied by an urban drum performance, who will warm up the crowd. I’m hoping that Jonah’s sitters clown brigade will be available that day to bust a move with us too. The drummers and clowns will pull people in, then out of the crowed at 1:00pm sharp our group of 40 plus dancers will bust a move. All in purple of course. We’ll pass out flyers at the end explaining the importance of bringing awareness to rare diseases and promote JJB. Ok so if you refuse to dance.... you can pass out flyers.
If you want to help JJB raise awareness for rare diseases for WRDD, give me a shout out jill@jonahsjustbegun.org
For groups not in the area you can participate by throwing your own event. Our video was designed to be set to any music and anyone can use it. To hook up with other rare disease groups in your area reach out to the ‘MeetUp’ event coordinators at the Global Genes Project. Amy amyg@rareproject.org will be happy to help you find people in your area. http://globalgenes.org
For more information on Rare Disease Day check out. http://www.rarediseaseday.org/
Hope to find a ton of responses in my inbox!
Jill
p.s. Our Annual Walk is March 10th at Prospect Park. Will need lots of Walkers too... You'll have JJB to thank for keeping you all in shape.
p.s.s. Almost forgot! Last but not least our friends at the Rare Disease Legislative Advocates will be hosting an awesome event on Capital Hill.
I gave an interview to the Rare Disease Report on Monday, promoting the event. This is an amazing opportunity for advocates to speak out to their Members of Congress. Here's the first part of the four part segment. http://www.raredr.com/advocacy/videos/why-attend-rare-disease-day-events-washington
Go figure the Rare Disease Report has decided to break my interview into four segments. One can only assume it's because I talk to much. The interviews will happen over the next 4 weeks, so watch for them. :)
It just sank in, that my plate for February-March is ambitious even for my standards!
First Up, I need Dancers for our World Rare Disease Day (WRDD) Flash Mob event and I won’t take no for an answer. Any able bodied New Yorker is enthusiastically encouraged to participate! After viewing the video don’t tell me that you’re not able bodied enough. We’ll take all ages, all skill levels, no dance experience necessary to perform a fun hip-hop routine.
We have two rehearsals scheduled- the first for this Sunday 2:00 pm at Work Space, 275 Prospect Park West at the corner of 17th. The 2nd is on the 27th of January at Work Space. More rehearsals TBA.
But in the mean time start practicing. YouTube video is up now, click the link.
The dance will happen at an undisclosed location in Brooklyn (Participants will be given the location.) Our dance will be accompanied by an urban drum performance, who will warm up the crowd. I’m hoping that Jonah’s sitters clown brigade will be available that day to bust a move with us too. The drummers and clowns will pull people in, then out of the crowed at 1:00pm sharp our group of 40 plus dancers will bust a move. All in purple of course. We’ll pass out flyers at the end explaining the importance of bringing awareness to rare diseases and promote JJB. Ok so if you refuse to dance.... you can pass out flyers.
If you want to help JJB raise awareness for rare diseases for WRDD, give me a shout out jill@jonahsjustbegun.org
For groups not in the area you can participate by throwing your own event. Our video was designed to be set to any music and anyone can use it. To hook up with other rare disease groups in your area reach out to the ‘MeetUp’ event coordinators at the Global Genes Project. Amy amyg@rareproject.org will be happy to help you find people in your area. http://globalgenes.org
For more information on Rare Disease Day check out. http://www.rarediseaseday.org/
Hope to find a ton of responses in my inbox!
Jill
p.s. Our Annual Walk is March 10th at Prospect Park. Will need lots of Walkers too... You'll have JJB to thank for keeping you all in shape.
p.s.s. Almost forgot! Last but not least our friends at the Rare Disease Legislative Advocates will be hosting an awesome event on Capital Hill.
I gave an interview to the Rare Disease Report on Monday, promoting the event. This is an amazing opportunity for advocates to speak out to their Members of Congress. Here's the first part of the four part segment. http://www.raredr.com/advocacy/videos/why-attend-rare-disease-day-events-washington
Go figure the Rare Disease Report has decided to break my interview into four segments. One can only assume it's because I talk to much. The interviews will happen over the next 4 weeks, so watch for them. :)
Wednesday, January 9, 2013
Revved up and ready to go.
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| Holy Snow! |
Revved
up and Ready to go.
Nothing
like the fear of greedy insurance companies to get my blood boiling.
Here
are two recent articles that have freaked me out, I’m not going to panic…. Yet.
If Jonah was already receiving an expensive treatment I’d be taking up arms
now. MPS patients that are receiving monthly
infusions of enzyme should be getting ready for battle now.
Insurance companies are beginning to scrutinize the health benefits that patients get from using expensive
drugs. Basically they don’t want to pay
for quality of life. Why is it ok that
health care coverage is a billion dollar industry for insurance
executives? Jonah’s
Physical Therapist nailed it: “People aren’t M&M’s”- Jane Weedon of WorkSpace.
These articles have given me invaluable
information and have validated my concerns. This generation of patient pioneers have to protect our children and the generations of Sanfilippo children to
come, we will have to justify to insurance companies as to why our children need expensive drugs and treatments. A well designed and executed Natural History Study is a must. The Natural History Study will paint the
picture of doom and gloom… the nightmare that our children and their families are living in. Much like a page ripped
from a Stephen King novel.
The MPSIIIC gene
therapy research that JJB is funding, will cost over a million dollars per child (just one time.) Insurance companies won’t
like that and many families will have to fight for it.
The article's have also given me another
reason as to why we can’t put all of our eggs in one basket and focus on just one treatment. We need to think outside the box and find
treatments that aren’t going to cost a fortune. It’s a fine line for an ultra rare
disease. A treatment has to be expensive
enough for a drug company to find as a worth while investment, but if it’s too
expensive insurance companies will put up a fight.
JJB will hope for the best but plan for
the worst.
Don't read into this blog. I'm extremely optimistic for the New Year.
I’m super excited about another project
that JJB and JLK are going to fund. It’s an edgy new concept that has never
been done before. The experiment has
been in the works for over a year now and preliminary results are optimistic, so we’re going to jump in.
Not only is it a noninvasive and potentially inexpensive treatment but
it’s application for other Lysosomal Diseases are promising.
JJB’s funding for this project has come straight from the
generous donations from the Holiday Remit fund.
I can’t even begin to thank all of our
friends and supporters that have donated (I especially like our friends that
work for companies that have matching programs, you’ll all be in my will.) Donations from $5.00 to $500.00 it all adds
up. I watched this ridiculously stupid
movie over the Holidays. The main character was bitching about the dent put
into her $10,000 dollar couch. I wanted
to puke… What I could do with $10,000!
Seed money that has the potential to save thousands of lives, not to
mention the unmeasurable difference in the quality of life that it would make
for the affected child’s entire family.
Rare disease affects 1 in 10
people. You know why my family is
probably the only family you know of?
The majority of the other families are shut in’s. As soon as the parents get home from work
their child’s caregiver is relieved and they take over the constant care. They don’t leave the house for dates or
vacation, they can’t afford too. Who
will care for their child and how will they pay for it? There is no disposable
income after paying for expensive medical care.
So for those of you who are embarrassed
that you only have $5.00 bucks to donate to the Holiday Remit Fund, don’t be. We’re
a testament to what five bucks can do.
Next week I'll tell you more about how your donations have changed scientific history. Alas, you'll have to wait. I have to pick Jonah up from school now.
Happy New Year!
Jill
Monday, December 17, 2012
No School Today- Thinking of the children lost
Skipping work and school today in memory of the kids and teachers that lost their lives at Sandy Brook Elementary. The pain those parents and family members must be going through... it's incomprehensible.
I worry about Jonah everyday, how long will he live? Will he be in pain? Will he be part of a clinical trial? Will that trial be invasive and dangerous? Will a treatment come in time? Then I worry about him getting hit by a car. Now a bullet....
When I was 11 my Grandma was diagnosed with a terminal brain tumor. We lived with her at the time, I watched my brilliant and talented Grandmother wither away. When my Dad shot himself. I contemplated the only two deaths of my loved ones. I thought that I would rather have someone that I loved go fast rather then watch them slowly demise. My Grandma didn't know who I was at the end. The last few months of her life she said every day: "I wish I would just die."
My Dad didn't want to live anymore, he didn't want his family to see him depressed or be a burdened on them. Dad had a gun, Grandma didn't.
Where am I going with this?
When Jonah was diagnosed with a fatal disease. I took back my decision- that I'd rather have a loved one go fast so that I didn't have to watch them die. I want to be by Jonah's side for every laugh and tear. Is that selfish?
My heart goes out to those parents that had their children's lives snatched away from them. I wish I could do more. Today Jonah and I will goof off all day. We'll play tag and laugh. Make Christmas cookies and eat cookie dough until we have belly aches. My little cookie eater is up now, time to get busy goofing off.
I worry about Jonah everyday, how long will he live? Will he be in pain? Will he be part of a clinical trial? Will that trial be invasive and dangerous? Will a treatment come in time? Then I worry about him getting hit by a car. Now a bullet....
When I was 11 my Grandma was diagnosed with a terminal brain tumor. We lived with her at the time, I watched my brilliant and talented Grandmother wither away. When my Dad shot himself. I contemplated the only two deaths of my loved ones. I thought that I would rather have someone that I loved go fast rather then watch them slowly demise. My Grandma didn't know who I was at the end. The last few months of her life she said every day: "I wish I would just die."
My Dad didn't want to live anymore, he didn't want his family to see him depressed or be a burdened on them. Dad had a gun, Grandma didn't.
Where am I going with this?
When Jonah was diagnosed with a fatal disease. I took back my decision- that I'd rather have a loved one go fast so that I didn't have to watch them die. I want to be by Jonah's side for every laugh and tear. Is that selfish?
Wednesday, December 12, 2012
Stop trying to sell crazy here, we’re all stocked up.
Stop trying to sell crazy here, we’re all stocked up.
Seriously, it’s time to take a break. It has finally sunk in that Jonah isn’t going to die tomorrow and that he’s in the prime of his life right now. I might loose my mind working at this pace. One of my clinicians told me right at the start: “Ally yourself with the medical professionals who can advise you, so that you don’t look like the crazy lady trying to cure Sanfilippo by herself.”
It has been brought to my attention that I do come off as crazy. Last week I had an appointment with an art director, my friend introduced us and came to the appointment. I dove into my agenda and needs, never pausing. When I did finally stop, my friend told the ad exec: “Sorry, Jill’s always like this, I run into her on the street and ask her how she’s doing and she just brain dumps on me.”
I run into friends on the street all the time and give them an update that is way more then they had bargained for. One friend told me: “Geez Jill, everything in your life is a matter of life or death.”
Last week I was walking Jonah to school along with another parent and his son, Jonah’s classmate. Jonah started running down the street. I ran after him. When the Dad caught up to me, he asked if Jonah always took off like that, I said yes. He told me that he has a down syndrome nephew that used to be like that, but he grew out of it. He told me Jonah will eventually slow down too. I told him: “Yeah, because the disease that Jonah has is fatal.” He was dumbfounded, not knowing what to say he walked along dazed. I felt bad, why did I have to say that?
Seeing myself through the eyes of my peers has helped. The constant panic attacks that I’m not going fast enough, is going to put me into an early grave. The icing on the cake Roy’s recorded testimony.I attached the video of Roy’s testimony on capital hill, a speech that he made to congress leaders, FDA and heads of Biopharmaceutical companies. Watch the video, it might bring you to tears but it will give you a good sense of what it is that families like ours are up against. For me... It really hit home on a more personal level, enjoy Jonah now. Reed was diagnosed with type A about 10 months after Jonah’s DX. During that time, Reed has gone from using his words to express his needs to having to rely on gestures to communicate.
Without a treatment in Jonah’s near future this will happen to my family too. I don’t want to have missed the good times, panicking. It's a fine line that I live.
The past 6 months have been really rough, Jonah has entered the ‘hyper’ stage of the disease. I have been racking my brain as to how to deal with it. I can’t control Jonah in public settings. He’s gone in a blink of an eye. Nothing I can do or say will divert him. He has no sense of fear, traffic doesn’t bother him, in fact he likes the traffic so much he’ll attempt to get in a car stopped at a red light.
I have given great consideration to getting a service dog, but a big dog in our 600 square foot apartment... A few weeks ago I had to take Jonah out on an errand. As soon as we got off the bus Jonah saw some older kids running, it was getting dark out and the sidewalk was packed with people. Jonah took off after the kids, I wasn’t even off the bus yet. I ran after him, but I couldn’t get the people out of my way fast enough. Jonah was a few feet away from the curb when a teen aged boy rose to the occasion and caught him just as he stepped into the street. That’s when I thought of a service dog, the dog could get through the people and grab Jonah by the tail of his coat. People passing by might actually pay more attention to a service dog and try to stop Jonah.
My Mom designed us vests that we can attach a leash to. I used it for the first time yesterday. We were way uptown at the Presbyterian Hospital it’s a HUGE hospital with several connecting buildings, lots of emergency vehicles coming in and out. The leash was awesome. Jonah stayed within a couple of feet of me. He still climbed up on the retaining walls and jumped in all the mud puddles available, but he didn’t run into the street, nor did he mind the leash. He said: “Hey I’m a pet.”
When Jonah ran into the gift shop and tossed the stuffed animals to the floor, the other shoppers politely smiled and picked them up. When Jonah drop kicked the life sized stuffed dog across the store, the shop keeper smiled and said: “That’s ok.”
I could get used to this kind of understanding attitude, but we were in the Neurological disorders department of a pediatric hospital. I have yet to use it in my neighborhood, not sure what my community might think. But like Grandma said they probably will be envious that they didn’t have the nerve to do the same.
It’s been very difficult to absorb the mental changes happening with Jonah. I broke down and took him to a psychiatrist to discuss meds that might help control Jonah’s impulsivity. I can’t deny that this is happening and it’s only the beginning stages. Some of the horror stories that parents have of their Sanfilippo kids hyperactivity and fearlessness would make you loose sleep at night.
One child ran into the street and was hit by a car, broke several bones in his body, amazingly he survived. Another child liked to jump on the oven door. His Mom started to use a bungee cord to hold it shut, one day the system failed and her son jumped on the oven door and pulled the whole oven out from the wall.
Many families have created safe rooms in their homes. Our families post pictures of the modifications they have done to their homes to damage control their kids. Double dutch doors to keep them in one room but within visibility, plexi glass over all book shelves and entertainment centers, one family built a corral around their open kitchen so their kid couldn’t access anything dangerous. Many Sanfilippo children are compelled to push anything and everything off shelves, tables or counters. These precautions go above and beyond baby proofing.
Anyhow... I’m just trying to paint a picture of what the behavior is like. Now imagine living in Urban New York, where you have to walk everywhere. The streets and sidewalks are dangerous for those without disabilities. Walking to school is a nightmare. Jonah climbs up every ones stairs, tries to open peoples doors, looks into their windows. Jumps in every puddle, runs into every store. Lays down rolls on the filthy sidewalk. If he has to pee, he pulls his pants down and pees right there. When Jeremy or I try to drag him home, Jonah screams: “HELH HELP, somebody save me, anybody.... come save me.”
When not in public Jonah is brilliant and is the sweetest loving kid. Always happy and friendly. The Psychiatrist mentioned several times, that Jonah’s disposition was wonderful, he was impressed with how polite and attentive he was. Jonah sat down and introduced himself, shook his hand and asked the doctor what his name was. He wasn’t in the least bit stubborn, he answered all the doctors questions. He drew for him, counted and wrote his name. I was so proud of him. My sweet little boy.
Just now Jonah’s speech therapist popped out to tell me how excited she was. Jonah had just validated her theory of children with auditory issues had problems drawing and describing pictures. She proclaimed that Jonah did not have auditory issues! She asked Jonah to draw a couple of different things and to tell her about it. Jonah drew a car with wheels, a seat and a passenger. He made the front and back license plate and told her that those were the #’s and letters. He drew a picture of himself using a different color for his hair and eyes. His speech therapist was thrilled, his comprehension and attention to detail and ability to express everything he drew and saw was spot on. He even drew a side walk with a kid playing with his toy. I tell yeah if it wasn’t for this forsaken disease, Jonah could be anything he wanted to be.
Normally praise like this would make me want to run straight home and get back to work. Not today, Jonah and I are going to go home and draw Christmas Trees. I’ll post this tomorrow.
People are always giving me advice some say, enjoy Jonah while you can, I want to punch those people. Other frantic parents will literally put the fear of God in you. “Jill your son is dying before your very eye’s, what are you doing about it?!” To those I say: “Stop trying to sell crazy here, I’m all stocked up.” I know what I need to do, find balance.
Seriously, it’s time to take a break. It has finally sunk in that Jonah isn’t going to die tomorrow and that he’s in the prime of his life right now. I might loose my mind working at this pace. One of my clinicians told me right at the start: “Ally yourself with the medical professionals who can advise you, so that you don’t look like the crazy lady trying to cure Sanfilippo by herself.”
It has been brought to my attention that I do come off as crazy. Last week I had an appointment with an art director, my friend introduced us and came to the appointment. I dove into my agenda and needs, never pausing. When I did finally stop, my friend told the ad exec: “Sorry, Jill’s always like this, I run into her on the street and ask her how she’s doing and she just brain dumps on me.”
I run into friends on the street all the time and give them an update that is way more then they had bargained for. One friend told me: “Geez Jill, everything in your life is a matter of life or death.”
Last week I was walking Jonah to school along with another parent and his son, Jonah’s classmate. Jonah started running down the street. I ran after him. When the Dad caught up to me, he asked if Jonah always took off like that, I said yes. He told me that he has a down syndrome nephew that used to be like that, but he grew out of it. He told me Jonah will eventually slow down too. I told him: “Yeah, because the disease that Jonah has is fatal.” He was dumbfounded, not knowing what to say he walked along dazed. I felt bad, why did I have to say that?
Seeing myself through the eyes of my peers has helped. The constant panic attacks that I’m not going fast enough, is going to put me into an early grave. The icing on the cake Roy’s recorded testimony.I attached the video of Roy’s testimony on capital hill, a speech that he made to congress leaders, FDA and heads of Biopharmaceutical companies. Watch the video, it might bring you to tears but it will give you a good sense of what it is that families like ours are up against. For me... It really hit home on a more personal level, enjoy Jonah now. Reed was diagnosed with type A about 10 months after Jonah’s DX. During that time, Reed has gone from using his words to express his needs to having to rely on gestures to communicate.
Without a treatment in Jonah’s near future this will happen to my family too. I don’t want to have missed the good times, panicking. It's a fine line that I live.
The past 6 months have been really rough, Jonah has entered the ‘hyper’ stage of the disease. I have been racking my brain as to how to deal with it. I can’t control Jonah in public settings. He’s gone in a blink of an eye. Nothing I can do or say will divert him. He has no sense of fear, traffic doesn’t bother him, in fact he likes the traffic so much he’ll attempt to get in a car stopped at a red light.
I have given great consideration to getting a service dog, but a big dog in our 600 square foot apartment... A few weeks ago I had to take Jonah out on an errand. As soon as we got off the bus Jonah saw some older kids running, it was getting dark out and the sidewalk was packed with people. Jonah took off after the kids, I wasn’t even off the bus yet. I ran after him, but I couldn’t get the people out of my way fast enough. Jonah was a few feet away from the curb when a teen aged boy rose to the occasion and caught him just as he stepped into the street. That’s when I thought of a service dog, the dog could get through the people and grab Jonah by the tail of his coat. People passing by might actually pay more attention to a service dog and try to stop Jonah.
 |
| "Hey, I'm a pet." |
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| Eating, chalk. |
My Mom designed us vests that we can attach a leash to. I used it for the first time yesterday. We were way uptown at the Presbyterian Hospital it’s a HUGE hospital with several connecting buildings, lots of emergency vehicles coming in and out. The leash was awesome. Jonah stayed within a couple of feet of me. He still climbed up on the retaining walls and jumped in all the mud puddles available, but he didn’t run into the street, nor did he mind the leash. He said: “Hey I’m a pet.”When Jonah ran into the gift shop and tossed the stuffed animals to the floor, the other shoppers politely smiled and picked them up. When Jonah drop kicked the life sized stuffed dog across the store, the shop keeper smiled and said: “That’s ok.”
I could get used to this kind of understanding attitude, but we were in the Neurological disorders department of a pediatric hospital. I have yet to use it in my neighborhood, not sure what my community might think. But like Grandma said they probably will be envious that they didn’t have the nerve to do the same.
It’s been very difficult to absorb the mental changes happening with Jonah. I broke down and took him to a psychiatrist to discuss meds that might help control Jonah’s impulsivity. I can’t deny that this is happening and it’s only the beginning stages. Some of the horror stories that parents have of their Sanfilippo kids hyperactivity and fearlessness would make you loose sleep at night.
One child ran into the street and was hit by a car, broke several bones in his body, amazingly he survived. Another child liked to jump on the oven door. His Mom started to use a bungee cord to hold it shut, one day the system failed and her son jumped on the oven door and pulled the whole oven out from the wall.
Many families have created safe rooms in their homes. Our families post pictures of the modifications they have done to their homes to damage control their kids. Double dutch doors to keep them in one room but within visibility, plexi glass over all book shelves and entertainment centers, one family built a corral around their open kitchen so their kid couldn’t access anything dangerous. Many Sanfilippo children are compelled to push anything and everything off shelves, tables or counters. These precautions go above and beyond baby proofing.
Anyhow... I’m just trying to paint a picture of what the behavior is like. Now imagine living in Urban New York, where you have to walk everywhere. The streets and sidewalks are dangerous for those without disabilities. Walking to school is a nightmare. Jonah climbs up every ones stairs, tries to open peoples doors, looks into their windows. Jumps in every puddle, runs into every store. Lays down rolls on the filthy sidewalk. If he has to pee, he pulls his pants down and pees right there. When Jeremy or I try to drag him home, Jonah screams: “HELH HELP, somebody save me, anybody.... come save me.”
When not in public Jonah is brilliant and is the sweetest loving kid. Always happy and friendly. The Psychiatrist mentioned several times, that Jonah’s disposition was wonderful, he was impressed with how polite and attentive he was. Jonah sat down and introduced himself, shook his hand and asked the doctor what his name was. He wasn’t in the least bit stubborn, he answered all the doctors questions. He drew for him, counted and wrote his name. I was so proud of him. My sweet little boy.
Just now Jonah’s speech therapist popped out to tell me how excited she was. Jonah had just validated her theory of children with auditory issues had problems drawing and describing pictures. She proclaimed that Jonah did not have auditory issues! She asked Jonah to draw a couple of different things and to tell her about it. Jonah drew a car with wheels, a seat and a passenger. He made the front and back license plate and told her that those were the #’s and letters. He drew a picture of himself using a different color for his hair and eyes. His speech therapist was thrilled, his comprehension and attention to detail and ability to express everything he drew and saw was spot on. He even drew a side walk with a kid playing with his toy. I tell yeah if it wasn’t for this forsaken disease, Jonah could be anything he wanted to be.
Normally praise like this would make me want to run straight home and get back to work. Not today, Jonah and I are going to go home and draw Christmas Trees. I’ll post this tomorrow.
People are always giving me advice some say, enjoy Jonah while you can, I want to punch those people. Other frantic parents will literally put the fear of God in you. “Jill your son is dying before your very eye’s, what are you doing about it?!” To those I say: “Stop trying to sell crazy here, I’m all stocked up.” I know what I need to do, find balance.
Wednesday, November 21, 2012
My Heroes
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| Ryan Dant |
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| Abbey Meyers |
Last week I went to the Rare Voice Award Gala in DC. I was honored to be nominated for the ‘Abbey’ award, for my work in championing the ULTRA/TREAT acts. The Abbey award was a beautiful marble statue of a Mother protecting and standing up for her child. Inspired after Abbey Myers a mother of a son with Turrets Syndrome. Abbey was the inspiration for the Orphan Drug Act, her story is quite amazing if not serendipitous. I encourage you to read the history of the Orphan Drug Act.http://archive.eurordis.org/article.php3?id_article=1751
After helping to establish the act she went on to found NORD, the National Organization of Rare Diseases. Abbey spoke at the award ceremony, once again I was moved and inspired by what the power of one Mom can do. I had the pleasure of meeting Abbey later, this women is a force to be reckoned with, lets just say I would NOT get in her way.
I didn’t win the award and yes it stand’s true it was an honor to have been nominated. I was so proud to be standing with the group of incredible parent advocates and I’m thrilled that my associate, friend and fellow Sanfilippo dad Roy Zeighami won for his role in driving the ULTRA/TREAT acts.
The event for me was priceless, It was a lovely intimate gala. Relaxed and small enough to finally get the chance to meet some of my idols face to face. Ryan Dant. I tear up just thinking about this young man. The Dant family embarked on their crusade to save their son Ryan in 1994, Ryan was diagnosed with MPS I at the age of 3, the average life span for MPS I is 10. Ryan is now in his early 20’s attending college and living a normal happy life. I crashed his table after having a few glasses to many of wine, I gushed. The poor kid is probably still reeling from the crazy mom, blubbering over him.
It was so beautiful to sit next to him and talk to him. Ryan is handsome, charming, bright and happy. He looks a lot like Jonah but with dark hair and eyes. The MPS features, make our kids look a lot a like. The likeness to Jonah just added to my emotions. Ryan is the first kid to survive MPS I, I told Ryan that I wanted Jonah to grow up to be just like him. Ryan has no idea how much I cherish him, he gives me immense hope.
I asked Ryan if he knew how special he was and if his friends new? He said: “no, I just want to live a normal life, there are just a few people that I have shared my story with.”
I pictured Jonah someday saying the same thing.
Here is an expert from an article about the Kakkis and Dant success story.
http://www.pomona.edu/news/2011/02/09-magazine-hero.aspx
AS KAKKIS WAS STRUGGLING with drug development on a tight budget, a family in Carrollton, Texas, was facing tragedy. Ryan Dant was an energetic three-year-old when his mother, Jeanne Dant, took him to the doctor for a checkup. The pediatrician noticed Ryan’s head and liver were unusually large. “He had this disease no one had ever heard of, called MPS,” his father, Mark Dant, remembers.
There was no treatment. Severe MPS I kills children before the age of 10; people with milder forms may survive to young adulthood. By first grade, Ryan suffered overpowering headaches and nausea. His liver and spleen swelled to twice their normal sizes. His fingers curled up as the GAG stiffened his joints. He stopped talking about what car he would drive, or anything else related to his future, because he knew he wouldn’t have one.
As in many families faced with rare diseases, it fell to the Dants to seek their own cure. In 1992, they started the Ryan Foundation for MPS Children, eventually raising thousands of dollars through bake sales and golf tournaments. But they weren’t sure what to do with the money.
Emil Kakkis is to the Dant family as Alexey Pshezhetsky is to my family.
I also got to finally have some face time with another Hero father John Crowley, the Crowley family have two children with Pompee disease, another one of the lysosomal storage diseases. After driving a treatment for Pompee this dad went on to form Amiccus a biotech that focus’s on chaperone therapies. A chaperone has been one of the treatment options that Alexey has been perusing for us. I told John about this and he promised to reach out to Alexey and share his expertise. Alexey was happy to hear about the connection, wanting to speak with Amicus for some time. John reached out to Alexey yesterday, it’s always nice to know the CEO. Check out the movie Extrardinary Measures, based on the true story of the Crowley family.
Speaking of Alexey, I may have not won the Abbey, but Alexey did win the award he was nominated for, The Champion of Genetics award for 2013!
The nominees must meet this criteria: For the purposes of this call for nominations, translational research is defined as a way of thinking about and conducting research that moves basic research more efficiently into medical practice, with meaningful health outcomes. It is about harnessing the knowledge from basic science to produce new options for the prevention or treatment of disease, be that through drugs, diagnostics, or devices.
Alexey received the award based on his work in rare genetic diseases affecting children, including MPSIIIC. I’m sure Alexey will be winning a lot more awards for his work.
Have a wonderful Thanksgiving!
Monday, November 5, 2012
The Hurricane VS Halloween.
We had so much fun at our Halloween events. We celebrated party #1, the eve of Hurricane Sandy, despite or inspite of the pending Hurricane we packed the house at the Ceol bar . Our friend Channon planned the whole party and our friend Loretta, proprietor of the Ceol Bar and Pub, donated her dining area at Ceol for our use.
There were several awesome kids vendors that came out. Joanna of Cheeky Monkey Party, came with her bag of goods- tons of kids party games and crafts. Jonah had a blast playing with the home made robots from the Brooklyn Robot Foundry, this place is so cool. They make robots out of repurposed motors, batteries and recycled materials. They came with a big table and a bunch of little robots, Jonah was memorized. Our favorite kids musician Pete from the Hootenanny Art House came out and brought down the house. We had bobbing for apples and face painting. On the way out the parents told me it was the best Halloween party that they had ever been to! One family said to me we had so much fun, we owe you more money, can I make a larger donation??
It felt good to do something domestic and celebrate a holiday. I baked, made goody bags and planned costumes. I haven’t done anything like that since diagnosis. I’m very much indebted to our community for initiating benefits for JJB. Thank you Channon & Loretta from Ceol, Jane and Kenzie from Work Space, for party #2!
On Halloween we had a benefit at Work Space, Jonah’s Physical and speech therapy studio. Jane and Kenzie our therapists, set up a Spooky Maze, an obstacle course for the kids. I was very touched to see our friends come out to support JJB. It was really cute to see Jonah come up with his sitter all dressed up and ready to go Trick or Treating for the first time. He loved the maze, crawling through tunnels balancing as he walked over a ‘rickety bridge’ over the mote and seeing old friends.
The events leading up to the Work Space event did not go as planned. I had left a lot of loose ends to tie up on Wednesday, thinking Jonah would be back to school, by then. Which he wasn’t, trying to pull everything together, was difficult with Jonah wanting to ‘help’. Then I couldn’t get a ride to Work Space, all the car services were tied up because of Sandy. I was stressed and late to our own benefit. Jonah’s sitter Gabby, ran outside for me to try and hail a cab, while I called every car service in town. Gabby actually caught one for me.
My volunteers couldn’t make it, no transit. Again Jonah’s sitter Gabby came through for us. Gabby had a house guest Rebecca, staying with her. Rebecca was touched by our story and wanted to come help, she hopped on her bike and sped over. She helped set up, passed out goody bags and helped the kids through the maze. On the way out I realized I had for gotten my coat, it was freezing out, no way to get a ride home. Randomly enough Rebecca had two coats on her. Here’s this stranger I had never met, coming to our rescue spending 3 hours helping and then she literally gives me the coat off her back. To top it off I get home and Gabby refuses to take payment for the evening, her way of donating to JJB. It’s people like Gabby and Rebecca, that make the World a better place. You know I know what it’s like to benefit over and over from the kindness of strangers. I hope that I can pay it forward for someone else in need. Hence my next story.
I’m ashamed to admit that I was completely clueless of the destruction that the hurricane had caused and the ramifications that we’d feel for a long time to come.
We don’t have a T.V., when Jeremy told me the storm was coming, I didn’t take it seriously. To many other things on my mind, I live in a Sanfilippo fog. After the storm Jonah was out of school all week. I didn’t get a chance to check out the news reports online until the weekend. I was horrified to see what had happened to Staten Island, Long Island, NJ, Red-hook... Mass destruction and loss of life. It’s such a shock.
Imagine closing on your first home, moving in and decorating the nursery for the baby your expecting in a few weeks. A new home with a yard for your eldest to play, while she waits for her baby sister to join her. The American dream, then a hurricane comes along and completely destroys your home. This is what has happened to friends of ours. Their plight has forced me out of my Sanfilippo fog and reminded me that unfathomable tragedy comes in many forms. I feel guilty for shrugging off the storm, we could have purchased a home in any one of the areas that got hit. Instead we landed on a hill, far enough away from the water, to have sustained any serious damage.
For those that have wanted to help and just don’t know where to give, here is a wonderful family that needs our help. A family that has been very supportive of JJB. To help, click here.
Election day is tomorrow! Much of what JJB and our rare disease community have been working so hard for, has a lot riding on this election. My mind would be at ease to know that people like Jonah who are dependent on expensive and life long treatments will be protected. Knowing that we have a president that believes in and understands the value of science would be a huge stress relief. Our rare disease community works extremely hard at improving public policy in regards to rare disease legislation. It would be nice if we had a government that appreciated the work that we’re doing. With all do respect, on Thursday I’d love to go back to my Sanfilippo fog for another four years, with a peace of mind that we have a president that has our back.
Hope for the best prepare for the worse. My new motto.
Cheers, Jill
We had so much fun at our Halloween events. We celebrated party #1, the eve of Hurricane Sandy, despite or inspite of the pending Hurricane we packed the house at the Ceol bar . Our friend Channon planned the whole party and our friend Loretta, proprietor of the Ceol Bar and Pub, donated her dining area at Ceol for our use. There were several awesome kids vendors that came out. Joanna of Cheeky Monkey Party, came with her bag of goods- tons of kids party games and crafts. Jonah had a blast playing with the home made robots from the Brooklyn Robot Foundry, this place is so cool. They make robots out of repurposed motors, batteries and recycled materials. They came with a big table and a bunch of little robots, Jonah was memorized. Our favorite kids musician Pete from the Hootenanny Art House came out and brought down the house. We had bobbing for apples and face painting. On the way out the parents told me it was the best Halloween party that they had ever been to! One family said to me we had so much fun, we owe you more money, can I make a larger donation??
It felt good to do something domestic and celebrate a holiday. I baked, made goody bags and planned costumes. I haven’t done anything like that since diagnosis. I’m very much indebted to our community for initiating benefits for JJB. Thank you Channon & Loretta from Ceol, Jane and Kenzie from Work Space, for party #2!
On Halloween we had a benefit at Work Space, Jonah’s Physical and speech therapy studio. Jane and Kenzie our therapists, set up a Spooky Maze, an obstacle course for the kids. I was very touched to see our friends come out to support JJB. It was really cute to see Jonah come up with his sitter all dressed up and ready to go Trick or Treating for the first time. He loved the maze, crawling through tunnels balancing as he walked over a ‘rickety bridge’ over the mote and seeing old friends.
The events leading up to the Work Space event did not go as planned. I had left a lot of loose ends to tie up on Wednesday, thinking Jonah would be back to school, by then. Which he wasn’t, trying to pull everything together, was difficult with Jonah wanting to ‘help’. Then I couldn’t get a ride to Work Space, all the car services were tied up because of Sandy. I was stressed and late to our own benefit. Jonah’s sitter Gabby, ran outside for me to try and hail a cab, while I called every car service in town. Gabby actually caught one for me. 
My volunteers couldn’t make it, no transit. Again Jonah’s sitter Gabby came through for us. Gabby had a house guest Rebecca, staying with her. Rebecca was touched by our story and wanted to come help, she hopped on her bike and sped over. She helped set up, passed out goody bags and helped the kids through the maze. On the way out I realized I had for gotten my coat, it was freezing out, no way to get a ride home. Randomly enough Rebecca had two coats on her. Here’s this stranger I had never met, coming to our rescue spending 3 hours helping and then she literally gives me the coat off her back. To top it off I get home and Gabby refuses to take payment for the evening, her way of donating to JJB. It’s people like Gabby and Rebecca, that make the World a better place. You know I know what it’s like to benefit over and over from the kindness of strangers. I hope that I can pay it forward for someone else in need. Hence my next story.
I’m ashamed to admit that I was completely clueless of the destruction that the hurricane had caused and the ramifications that we’d feel for a long time to come.
We don’t have a T.V., when Jeremy told me the storm was coming, I didn’t take it seriously. To many other things on my mind, I live in a Sanfilippo fog. After the storm Jonah was out of school all week. I didn’t get a chance to check out the news reports online until the weekend. I was horrified to see what had happened to Staten Island, Long Island, NJ, Red-hook... Mass destruction and loss of life. It’s such a shock.
Imagine closing on your first home, moving in and decorating the nursery for the baby your expecting in a few weeks. A new home with a yard for your eldest to play, while she waits for her baby sister to join her. The American dream, then a hurricane comes along and completely destroys your home. This is what has happened to friends of ours. Their plight has forced me out of my Sanfilippo fog and reminded me that unfathomable tragedy comes in many forms. I feel guilty for shrugging off the storm, we could have purchased a home in any one of the areas that got hit. Instead we landed on a hill, far enough away from the water, to have sustained any serious damage.
For those that have wanted to help and just don’t know where to give, here is a wonderful family that needs our help. A family that has been very supportive of JJB. To help, click here.
Election day is tomorrow! Much of what JJB and our rare disease community have been working so hard for, has a lot riding on this election. My mind would be at ease to know that people like Jonah who are dependent on expensive and life long treatments will be protected. Knowing that we have a president that believes in and understands the value of science would be a huge stress relief. Our rare disease community works extremely hard at improving public policy in regards to rare disease legislation. It would be nice if we had a government that appreciated the work that we’re doing. With all do respect, on Thursday I’d love to go back to my Sanfilippo fog for another four years, with a peace of mind that we have a president that has our back.
Hope for the best prepare for the worse. My new motto.
Cheers, Jill
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