94.7 cycle challenge and fundraising event - Pedalling 4 Pompe
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Pedalling 4 Pompe 94.7 cycle challenge and fundraising event.
What is Pompe disease? Pompe disease is a genetic condition. It is a neuromuscular disorder which affects primarily the heart and skeletal muscles. It affects individuals at all ages right from birth to as late as the sixth decade of life. It is caused by the deficiency of an enzyme which is called acid alpha-glucosidase. This enzyme helps breakdown glycogen. When this enzyme is deficient, glycogen builds up in the various muscle tissues of the body including cardiac and skeletal muscle.
What is the prognosis of a
young child with Pompe?
Pompe disease is a continuum of disease
spectrum. At one extreme is the infantile
presentation where babies are extremely
hypotonic, have significant cardiomyopathy and
typically die within the first year of life without any
intervening therapy. The cause of death is usually
cardiorespiratory failure. It is a lethal disease.
For patients who have the later onset forms of
Pompe disease, survival is increased, but there is
still significant morbidity and early mortality even
with adults with Pompe disease.
Can children live to be an
adult with Pompe disease?
It is important to recognize that it is a genetic
condition, so all of patients who have the genetic
defect have Pompe disease right from birth. For
the infantile form of the disease, they have what
we call 2 deleterious mutations, which results in
minimal to no residual enzyme activity of the acid
alpha-glucosidase. As such, they present very
early and die within the first year of life. In contrast,
adults have genetic changes, which are not as
severe as in the infantile form and thus they have
some residual enzyme activity . As such, they can
present later in life and thus live to be older.
What about Baby Juan?
Juan has what we call infantile Pompe disease,
where the residual enzyme activity is close to zero.
Juan presented in the first few months of life with
respiratory involvement. He also had a thickening
of the heart muscles and also progressive skeletal
muscle weakness. Juan became progressively
weaker. He was unable to lift his head, unable to
roll, unable to sit. Without therapy, Juan would
actually never learn to walk on his own and would
have typically succumbed to Pompe disease by
the time he reached his first birthday.
What is the treatment for
Juan’s type of Pompe?
Juan has infantile Pompe disease and as
mentioned, in this form of the disease, there is
minimal to no residual enzyme activity which
is acid alpha-glucosidase. That is the enzyme
missing in Pompe disease. For Juan to live, he
required replacement of the missing enzyme
in his body, which is acid alpha-glucosidase. It
is similar to providing insulin to someone who
has diabetes. He needs to have this enzyme
given to him throughout his life course to be
able to live.
Is there any kind of other
treatment at all?
This is the first life-saving treatment that is FDA
approved for Pompe disease. Prior to 2006,
there was no treatment for Pompe disease
other than symptomatic care. What one
could do was provide palliative care such as
medications, to help the heart failure, helping
the child breathe with ventilator support,
providing nutrition via nasogastric or G-tube
feeds and comforting the baby. This however,
would never change the outcome of death.
Does everybody respond to
this treatment?
In essence, the therapy is to provide the missing enzyme.
However, we have to recognize that if therapy is started
late, if the baby is very involved and has suffered what we
call, irreversible muscle damage, then the therapy has
limited benefit except the heart muscle, which we know is
extremely responsive no matter what stage of the disease
we identify the children.
For skeletal muscle there is a point of no return in the sense
that if there is fibrosis or scar tissue, or end-stage damage to
the skeletal muscle, then giving the enzyme does not help
the situation. This comes to the point of needing early
diagnosis and the role of new-born screening for Pompe
disease especially for the infantile form of the disease.
Is Juan on treatment? Juan is on treatment and continues on Myozyme intravenously which is close to a 4-hour infusion once a week, via a porto- cath. He has not required the need for any kind of immune tolerance induction therapies (Chemotherapy) because he is CRIM positive and also because he has tolerated the Myozyme.
What are the costs of Treatment? Due to the complex nature of the drug, Myozyme is exceptionally expensive, costing on average R2.5million per year including administration and infusion costs. Myozyme is weight-based and therefore differs from patients to patient, as well as from month – to –month as patient weight increases.
What other requirements do Pompe patients have? Various therapy's are vital to Pompe patients. Such therapies are Physiotherapy, Occupational Therapy and Speech Therapy. Often, psychological therapy for the patients as well as their immediate families are beneficial to assist everyone with coping with the stresses related to this disease.
What other considerations are
there?
Pompe patients have a small list of safe
medications that are available to them as
many other unsafe medications cause
damage to their organs containing skeletal
tissue.
All Respiratory viruses are extremely
dangerous and often life-threatening if
contracted by Pompe patients, as these
viruses target already compromised
respiratory/cardiac tissue having dire
consequences.What are the symptoms in
Infantile onset?
Cardiomegaly - Enlargement of the heart.
92%
Hypotonia - A condition in which there is
diminution or loss of muscular tonicity, resulting in
stretching of the muscles beyond their normal
limits. 88%
Cardiomyopathy – heart muscle is abnormally
enlarged, thickened, and/or stiffened. 88%
Respiratory distress 78%
Muscle weakness 63%
Feeding difficulties 57%
Failure to thrive 53%What are the symptoms in adult onset? Re-occurring Chest infections Difficulty in breathing and requiring respiratory support. Progressive muscle weakness requiring walking aids and wheelchairs Delayed motor milestones Difficulty chewing/swallowing Reduced vital capacity
Do these sound symptoms familiar? Hassomeone crossed your mind that has some of these symptoms? Isthere a possibility that they have been either incorrectly diagnosed, or worse, not diagnosed at all?
How will Pedalling 4 Pompe make a difference. All funds raised will be used for the following purposes: 1) Assist suspected patients with initial diagnostic costs. 2) Facilitate newly diagnoses patients getting onto treatment without delay. 3)Assist patients with medical insurance premiums 4) Provide support to newly diagnosed, as well as patients on treatment. 5)Create awareness of Pompe. 6)Fund on-going local research on Pompe.
Assisting patients with initial diagnostic costs P4P will assist patients in paying for the initial tests prior to diagnosis. We are currently working with all the doctors involves with Juan in terms of developing a team where all suspected cases can be referred. These tests include: AAG Blood test determine level of AAG in blood Muscle Biopsy/Heel test in infants determine level of AAG in muscle. ECG and Echo along with cardio consultation Lung-function testing along with Pulmonology consult Initial Physiotherapy/Occupation and Speech therapy assessments. Initial Baseline Blood work required.
Facilitate newly diagnoses patients getting onto treatment without delay. P4P will facilitate getting patients onto treatment without delay. Examples are: Contributing towards surgery costs of insertion of Porto-cath for all infants and young children, as well as adults where necessary. This ensures that infusions are less painful and are able to run with relative ease. Entering negotiations with Genzyme (manufacturers of Myozyme) regarding ICAP (International Compassionate Assistance Programme) for immediate availability of medication whilst authorization etc. is handled with medical aid/State institutions. Contributions towards hospitalization for infusions whilst medical authorization is still being handled.
Assist patients with medical
insurance premiums.
Due to the increased cost if the treatment, all diagnoses
patients ideally will need to be on a comprehensive
medical aid scheme. P4P plans to assist by:
1) Paying towards/covering the full monthly cost of
upgrading a patient initially on a basic medical scheme,
dependant on the affordability of each specific patient.
2) Assisting state patients with additional treatment costs
not covered at state facilities i.e.: various therapies.
3) Enrolling state patients who are declined treatment on a
comprehensive medical aid and covering those monthly
premiums partially/in full dependant on patients
affordability.*
*The first state patient has only recently been diagnosed and we are still unaware of the
outcome of whether treatment will be funded by the Dept. of Health.Providing support to Pompe patients and their families. The challenges involved with dealing with such a disease are often very difficult. P4P aims to assist patients emotionally and ensure that there is always the required support available to all patients and there immediate families.
Continually creating awareness It is estimated that per South Africa’s capita, we should have more than 100 patients on treatment for Pompe disease. Currently, we only have 2 patients on treatment, and 2 newly diagnosed patients currently awaiting feedback on whether treatment will be available. That is a total of 4 out of a possible 100 patients countrywide. It is imperative that awareness is created for this rare condition.
Funding of on-going local research and material. P4P plans on working closely with Genzyme and other relative companies regarding constant on-going research as well as providing knowledge, reference material and information on Pompe.
A picture story of Juan's progress on Treatment. living a normal life as a result of weekly treatment replacement therapy, occupational therapy, and physiotherapy
Juan is welcomed into the world at 07:05am on 28/08/2009
3 Days old One last snooze at the hospital before going home.
Juan aged 6 Weeks Already signs of severe low muscle tone are seen.
Juan – 16 weeks Still not able to support his head, a milestone usually reached by babies between 6 and 10 weeks.
Juan aged 8 months At this stage he was still unable to support his head up, or sit unsupported.
However….
He did know
how to smileAged 9 months Juan trying very hard to push himself up onto his forearms. This milestone is generally reached before 6 months.
Juan – 10 Months Juan in his walker. As you can see, he still could not support the weight of his head correctly, resulting in the back of his head resting on his shoulders.
Juan home from first bout in hospital Juan spent 7 weeks in and out of hospital fighting chronic Pneumonia. It was at this stage that the initial test for Pompe disease as well as many others where done.
Juan -11 months This picture was taken the week before Juan was diagnosed. He was still not able to sit without some form of support
Juan – 11 Months 4 days after his diagnosis, Juan had his first Porto-cath inserted via surgery. Porto-caths are devices typically used in patients requiring long-term infusions i.e.: Chemotherapy
Juan – 11 Months Juan at his first therapy session after 3 infusions. He is already able to push himself up onto his forearms.
Juan – 1 Year Old And look at me balancing on my bike all on my own.
Juan – 13 months Receiving treatment via his port.
Juan – 15 Months Look at me after 4 months at Physio and on Treatment.
In Hospital After 3 months of receiving his first port, Juan spent almost a month in hospital with his first port infection. This resulted in him seizuring from Septicaemia and being diagnosed as Epileptic bilaterally.
Coming Home Juan going home after 26 days in hospital.
Juan – 18 months Crawling after 7 months of treatment.
Juan – 18 months 7months on treatment.
Juan – 18 Months Walking assisted by a trolley
Juan – 21 Months Walking all on his own! A miracle in its own right!
Juan – 21 Months Indicating side effects to Treatment – Happiness.
Juan – Aged 2
Juan – 2.5 yrs. At his first soccer practise! Living a normal life thanks to Treatment.
Happiness is… To date Juan has had 7 surgeries. The road hasn’t always been easy, but we wouldn’t want it any other way, as we still have our son, and thanks to him receiving treatment, he is happy with good quality of life. Our wish is to see all Pompe patients the same way…
Invitation to participate
If you would like to join the Pedalling 4 Pompe cause you can
assist by the following:
Sign up to cycle the 94.7 with our team at
www.cyclechallenge.co.za
Sponsor a team member per kilometer:
Contact Kelly on 072 623 6763
Sponsor the Pedalling for Pompe team:
Contact Shevaun on 082 415 3893
Loan Cycling equipment for the “first-time” riders:
Contact Frans on 082 397 6867
Make a donation at
http://www.backabuddy.co.za/charity/profile/pedallingforpo
mpeInformation available @: Visitour website www.pedalling4pompe.co.za ‘Like’ us on Facebook - Pedalling 4 Pompe http://www.facebook.com/PedallingForPompes shevaun@chocolate-turquoise.co.za Frans du Plessis - 082 397 6867 / f.duplessis@mweb.co.za Kelly du Plessis – 072 623 6763 / k.duplessis@mweb.co.za
The Pedalling for Pompe team works in
conjunction with the Gaucher Society of
South Africa, a registered N.P.O and society
for all LSD diseases in South Africa
For More information about the
Gaucher Society of SA please contact:
Kelly du Plessis
Treasurer – Gaucher Society of SA
072 623 6763
k.duplessis@mweb.co.za
NPO NO: 069 - 91A special thanks to my wife, Kelly
for her courage, dedication and commitment to giving our
family, friends and colleagues the opportunity to get to know
and love our little boy for the past 2 years
I also wish to thank the following parties for
their involvement to date:
Shevaun McCreedy – charity organiser
Chocolate-Turquoise Pty – event organisers
Eben van Niekerk – Head of fund raising
Andy Masters - fund raiser
Two Old Farts On Bikes - blog/ awareness creators
All my family and friends for their active participation to date
Frans du Plessis – 082 397 6867You can also read
