Hope for Tomorrow Begins Today!
eNewsletter
Summer 2007 edition
Greetings!
Welcome to the Summer 2007 edition of the PND Association Newsletter, containing some of the
latest information concerning children and families with Pediatric Neurotransmitter Diseases.
Comments, questions, and suggestions for newsletter articles are all welcome. Please forward
them to Stephanie Martin at [email protected].
In This Issue
•
PND GRANT PROGRAM FUNDS $245,000 IN PND RESEARCH
•
NIH PROVIDES GRANT TO SUPPORT PND SYMPOSIUM
•
President's Message
•
PND Meets with Genzyme on behalf of AADC Gene Therapy
•
PND Testing Fund Helps Two Special Families
•
PND goes to Capital Hill
•
Family Share: Casey Family Visits the NIH
•
Fundraising Upcoming Events
•
Fundraising Ideas
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 1
PND Research Grant Program: $245,000 Awarded to Research
on Behalf of Pediatric Neurotransmitter Diseases
I. Recipient: Michael Rotstein, MD, Pediatric Neurology Unit, Dana Hospital for Children Tel
Aviv, Israel
Award: $100,000 Two Year Postdoctoral Fellowship
Movement Disorders emphasis on Pediatric Neurotransmitter Diseases. Second Year Research
Study: "Motor Phenotype of the HPH -1 Mouse as a Model for GTPCH-1 Deficiency". The
fellowship will take place at Columbia University, New York.
II. Recipient: K. Michael Gibson PHD, FACMG, Director Biochemical Genetics Laboratory,
Children's Hospital of Pittsburgh
Award: $50,000 "Hepatocyte Repopulation in Gamma Hydroxybutyric Aciduria"
III. Recipient: Phillip L. Pearl MD, Children's National Medical Center
Award: $40,000 "Clinical Studies in SSADH Deficiency"
IV. Recipient: Keith Hyland PhD, Director Department of Neurochemistry, Horizon
Molecular Medicine
Award: $30,000 "Enzyme and Molecular Testing for PND's"
V. Recipients: Ellen J. Hess PhD Associate Professor of Neurology/Neuroscience and H.A.
Jinnah MD, PhD, Associate Professor of Neurology John Hopkins University, Movement
Disorder Division
Award: $25,000 "Mouse Model Tyrosine Hydroxylase: Clinical Variability in TH Deficiency as a
Direct Consequence of the influence of the Genetic Mutation on the Functions of the TH
Enzyme".
Thank you to the PND Grant Review Committee and Chair Darryl De Vivo MD for their enormous
efforts in making this possible.
Research updates will be provided at the 2008 PND Symposium and on the PND Website.
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 2
NIH Provides Grant to Support PND Symposium
We are delighted to announce that the NIH will be awarding funding for the symposium. We
anticipate a July 2008 date. Please continue to check the PND website for current information. As
soon as a date is confirmed we will notify via email.
Thank you to K. Michael Gibson PhD, Dan Tagle PhD, Anne Kearney and Kimberly Gould
Speckman for their enormous efforts on behalf of this award.
President's Message
"And can it be that in a world so full and busy, the loss of one weak creature makes a void in any
heart, so wide and deep that nothing but the width and depth of eternity can fill it up."
Charles Dickens
I often reflect on this quote when I think about my dearly beloved J.J. and all the children who
have been affected by or lost to PND's and other horrible diseases. Truth be told, there are days
when I actually wonder how the world can continue to go on when there are children in it who are
so very ill and continue to suffer everyday.
To help my children live in this world and to console them during some of their worst life
moments, like most parents, I have said to them, "Don't worry, everything will be alright." Yes I
even told J.J. this during some of his most difficult times because I so wanted to believe it.
However, as a family when you are given a diagnosis or are told your child has a disability these
words seem to take on a whole new meaning. The fact of the matter is when you enter the
"world" of disabilities and childhood illnesses, the world is never the same and rarely is there a
moment when you think that everything ever again is going to be alright.
As a parent and as a family however we do have choices. Honestly it would be quite easy for me
and my family, since we were not able to find that cure in time, to give up, to lie down and go on
to wonder what is the point of trying to make a difference. Well, aside from the fact that I know
J.J. would be extremely disappointed in us as a family, I also know that we have come a long way
from where we were 7 years ago. Although our diseases are rare and of little interest to some, we
have learned over the years that we absolutely can and must make a difference!
On behalf of the PND Board of Directors I am so thrilled to share that so much has been
accomplished since the last edition of the PND E-newsletter. The National Institutes of Health
(NIH) has committed to providing support for our next symposium and in light of the situation
these days at the NIH it is remarkable that they understand the importance of continuing the work
on behalf of this group of diseases. Our most important accomplishment however, is the money
that has been designated specifically to research on behalf of our diseases. Never before has it
been so difficult to obtain research dollars (or any funding) from the NIH and because of this if we
want research for our diseases we must provide it! Last year the PND Association made the
commitment to make funding research our number one goal. We achieved this goal and plan to
continue with this commitment.
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 3
Welcome to Priya Kannusamy and Venu Prabhakar to the PND Board and a special thanks to
Brad Hoffman for his tremendous amount of work on completing the first PND Audit. Although the
audit was an arduous task, it is well worth the financial credibility that the association has
received. For a copy of the audited financial statement please visit the PND website.
As you read on and learn about what the PND Association has been doing, I am asking each of
you as parents and families to make that choice, to take a stand and to help to make a difference.
No fundraising is ever too small and the more we raise the closer we get to better understanding
our diseases and better treatments. Also, if we all join in and work together on behalf of these
horrible diseases, maybe there will come a day when we are a bit more comfortable telling our
children, "Don't worry, everything will be alright."
With Warm Regards to Everyone,
Nancy Speller
President/Co-Founder
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 4
PND Meets with Genzyme on Behalf of AADC Gene Therapy
On November 13, 2006, Darryl De Vivo MD, Keith Hyland PhD, Un Jung Kang MD and Nancy
Speller met with several key people at Genzyme. Genzyme is one of the world’s foremost
biotechnology companies with many of their products and services directed at rare inherited
diseases. The meeting with Genzyme was initiated to discuss their work on the AADC gene
therapy clinical trial and the implications it might have for children affected by AADC.
At the meeting a presentation on behalf of Pediatric Neurotransmitter Diseases was provided with
specific emphasis on Aromatic L Amino Acid Decarboxylase Deficiency. A discussion regarding
the AADC population followed. Questions related to severity, life span, global vs. non global
effects were discussed. Concerns were raised as to the efficacy of this type of therapy in children
and whether a negative peripheral effect would be imminent. A lengthy discussion on proof of
concept ensued and recommendations were made to test the AAV-AADC material on an animal
model of AADC deficiency prior to any preclinical treatment studies.
Genzyme staff discussed their current initiation of the phase 1 study of AAV-AADC gene therapy
for Parkinson’s patient and the addition of patients who will undergo AADC gene therapy over the
next 18 months. The safety data from this trial will be useful for all patients who go on to receive
AAV-AADC, whether they have Parkinson’s disease or AADC deficiency. Genzyme will be
seeking FDA approval with the results of this clinical trial and expressed concern that adverse
events experienced by individuals treated with AAV-AADC outside of Parkinson’s disease trials at
this time could negatively impact drug development.
Genzyme discussed potential excess material from the study and the possibility of making it
available for future studies on behalf of AADC patients. Currently all of the AAV-AADC material is
being used for the Phase I study and new material will not be manufactured for at least another
18 months. The PND Association has been invited to maintain an open dialogue with Genzyme
and to revisit this discussion at the completion of the manufacturing run and the clinical trial in 18
months. Plans to initiate the development of an AADC knock in mouse model verses a knock out
mouse model were discussed in case reagent should become available for testing. Dr. Kang will
discuss this potential project with colleagues and provide an update to the PND Association.
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 5
PND Testing Fund Helps Two Special Families
A letter from the Giunta family
Dear Nancy and friends at PND:
Thank you so much for your generous support. In the note you wrote,
"Please accept the enclosed in honor of Matthew and the wonderful gifts
he shared with so many. Your words meant a lot to us -- we have always
believed that Matthew is a gift for our family and those blessed to have
known him.
Matthew Giunta
Through Matthew we came to know some of the most beautiful people and kindest souls we have
ever known. Matthew was a magnet for love and kindness so yes, Matthew shared wonderful
gifts with so many.
Enclosed is a picture of Matthew at his first, and only, birthday party. It was only 3 months later
that our little magoo went home to God. We miss him so much. Look at the shmoosy face -- too
cute!
Love,
Danielle and Matthew Giunta
Maansi's Story: By Shalini Gugnani (Maansi's Mother)
Birth of a child is a matter of immense joy to the family. We too felt
blessed when Maansi was born .She was delivered normally had an
uneventful infancy and early childhood.
Shalini and Maansi
Our joy soon turned into distress and worry as she skipped some milestones. Maansi never
crawled or rolled over. She was wrongly diagnosed as mild case of cerebral diplegia and physical
therapy was initiated.
Unaware of what was stored in her future we worked hard on her and she started independent
walking at two and a half years. Maansi walked independently for about a year before she started
going downhill and lost milestones. As frustrated parents, we ran from pillar to post and to all
major children hospitals in India. Maansi was subjected to numerous tests, which we had never
heard of, MRIs and EEG etc but nothing seemed to help her.
The diagnosis changed as they couldn't pinpoint what she had. They thought it was a
mitochondrial disorder. We then took her to a knowledgeable Pediatric Neurologist at Bombay,
India Dr. Vrajesh Udani. Dr. Udani sounded very enthusiastic about Maansi`s progress and she
put her under the umbrella of PND's.
The spark in Dr. Udani's eyes and an article in the Annals of Neurology on PND's lead us to
pursue Dr. De Vivo at Columbia and to Dr. Swoboda at Utah.
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 6
Those 3 months in the US were an experience of a lifetime. Maansi got diagnosed with a BH4
deficiency. We did face a tough financial situation due to no insurance and enormous currency
difference between the rupee and dollar. It was then that a fairy answered a request over the
phone. This God sent help was like a ray of hope and gave us courage to hang on. That fairy is a
very generous organization called the PND Association. Nancy Speller and Priya Kannusamy
encouraged us in a way only mothers can. The PND Association funded the expensive CSF
testing and PA loading test. It has helped us in more ways than one. Nancy, Priya and the PND
Asociation shall be very close to our hearts all our lives. Your acts of kindness and love are
unforgettable.
We are still working on Maansi and just praying to Almighty God that one day we should see her
all right and that day should be very near.
PND goes to Capital Hill (by Priya Kannusamy)
Dear PND Families:
As a new PND board member and AADC family representative, I am delighted to share my recent
experience of attending the Parkinson’s Action Network’s (PAN) 13th Annual Research,
Education, and Public Policy Forum, which was held in Washington, D.C from February 11th
through February 13th. Also attending the forum were LaRee Ahler, TH Parent, PND member,
and Nancy Speller, President PND Association. Thank you to La Ree for making this all possible
by contacting her PAN Nebraska state coordinator. We are also extremely grateful to PAN for
providing full scholarships to attend the forum.
PAN is a national grassroots advocacy program that works tirelessly to increase awareness about
Parkinson’s Disease (PD), and to increase federal funding for Parkinson’s research. For more
information about PAN and to view the forum agenda please visit www.parkinsonaction.org.
Since PD and many of the PND’s are related by problems in dopamine transmission in the brain,
we saw this forum as a perfect opportunity to learn about the latest treatment options for PD that
may potentially benefit our children, to introduce our population to PAN, and also to the
researchers, government agency leaders, and policy makers in Capital Hill. Many of the forum
attendees and presenters were surprised to hear that children are also affected by similar
diseases and some even started mentioning PND as “Pediatric Parkinson’s Disease”.
The first two days of the forum included extensive training on the most current issues of PD
research and related public policy. The training included the “How To’s” of lobbying on Capital Hill
and workshops where we learned ways to convey our personal stories in the best possible way.
There were also numerous presentations on the most up to date research, funding issues and
challenges affecting the PD population. We were delighted to have the opportunity to meet and
share our population with many of the presenters which included: Story Landis PhD Director
NINDS, Howard J. Federoff, MD University of Rochester and William Langston MD, Scientific
Director of the Parkinson’s Institute.
The last day of the forum was the highlight of the event. We were divided into teams according to
our states, and we met with our members of Congress, and their staff. It was a great privilege to
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 7
meet face to face with the people who have the power to make a change in current health care
funding and new innovative research.
Although the advocacy training and updated research information will be extremely beneficial to
our population the forum also provided us with a chance to bond with members of the PD
population, all of whom share many of the same issues and challenges as our families. We were
able to speak one on one with older and younger adults with PD, family members and caregivers
and share the everyday struggles of life.
Attending the forum was a wonderful experience, and we hope that one day we will be on Capital
Hill again, representing The PND families. That day is not too far in sight!
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 8
Family Share: Mike and Diane Casey, Parents of Ian, Visit the
NIH
Ian at the NIH
My husband Mike and I have been asked to share our recent
experience at the NIH as participants in the SSADH baseline
study. To begin with, we feel privileged to have participated
in this study as a selected family and feel grateful to the
members of the PND Association's Board and Medical and
Scientific Advisory Committee for all the hard work that has
been expended over the years to get us to this point.
We were a little hesitant about participating and putting Ian
through all of the tests, a couple of which we'd never even
heard of, but things couldn't have gone more smoothly. We
flew out from California the Thursday before to do a little sightseeing and adjust to the time
change. On Sunday we took the Metro out to Bethesda to check into the Children's Inn at the
NIH for our Monday morning appointments. My 24 yr. old nephew flew out to entertain our 11
yr. old daughter while Ian, Mike and I went through our battery of tests which was wonderful for
her. Ian and I stayed in the hospital which was quite comfortable. We had a private room with
our own bathroom, TV and internet access. Ian was quite happy.
We were worried about how Ian would tolerate all the tests and I'm proud to say he was a
trooper. The staff at the NIH did everything possible to make us comfortable. Mike and I were
scheduled for several tests ourselves the day of Ian's sleep study which made us a little nervous.
No problem -Jackie to the rescue! Ian had an EEG the day before with her and she assured us
that she was more than capable of hanging out with him- being a mother herself to a now grown
son with behavior needs. She became Ian's second mother that day. I didn't think there was any
way he'd even sleep for this test, but having been off his regular medication for a couple of days
made it hard for her to keep him awake. I'd forgotten how sleepy he could get.
He was awakened the next morning at 6:00 for his MRI and PECT scan-and this is where our
story takes a turn. Again, he tolerated the anesthesia and the tests well although he slept for
quite awhile afterwards. Dr. Pearl happened to come to visit us while Ian was having his MRI so
was there when the fellowship neurologist came out to I assume let me know that they detected
something unusual. To make a long story short, Dr. Pearl said they found what could either be a
lesion/growth/tumor, or a spot that could be related to the SSADH. Apparently what they typically
see in SSADH was not detected in Ian's MRI.
We came home filled with worry and concern and quickly scheduled our follow up appt. in 3
months as recommended by Dr. Pearl. We anxiously awaited the results after his Oct. 23rd
appt. We are incredibly blessed to have had two of the top neuroradiologists in the country look
at his results. Dr. Pearl, an associate, and Dr. Barkovich from UCSF where the follow up was
done. They were able to look at the last MRI Ian had done in 2000 and find the same
spot. It's obviously been there for several years and was 3 mm in 2000 and is 10 mm now.
We're still not 100% certain what the spot is, but it hadn't changed since the MRI at the NIH-which
we didn't expect it to as it appears to be slow growing. The feeling is that it is related to the
SSADH, but we'll continue to follow it again in 6 months. If it continues to stay the same we'll
double the increments in between MRIs.
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 9
Frankly, neither outcome is anything we ever dreamed of, but after 14 years to adjust to Ian's
diagnosis, we're thankful to have these incredible doctors and research available to us. Ian
continues to be a happy 8th grader who hasn't stopped talking about his trip to the Baltimore and
Ohio Train Museum after his tests and how much he enjoyed the Children's Inn at the NIH.
Upcoming Fundrasing Events
Saturday, August 25, 2007 -- North Conway, NH.
Family A' Fair
Contact Darlene and Kyler Drew at [email protected] for more information
Thursday, September 13, 2007 --Kettle Hills Golf Club
9th Annual Chip for Charity Golf outing
Visit the Chip for Charity Website www.pndchipforcharity.com for more information
Fundraising Ideas
The PND Association is a volunteer non profit organization. We are supported by the many
generous people who have offered unique ways to raise money. Visit the fundraising section of
the PND website www.PNDassoc.org for a list of different fundraising ideas that people have
used to assist with our mission. If you are interested in holding a fundraiser please contact the
PND Association, [email protected].
28 Prescott Place
Old Bethpage, NY 11804
e-mail: [email protected]
www.PNDassoc.org
This newsletter is intended to provide information. It is not intended to, nor does it, constitute medical or other
advice. Readers are warned not to take any action with regard to medical treatment or otherwise based on the
information on this newsletter without first consulting a physician.
Page 10