Oh I'm gonna try with a little help from my friends.
With a little help from my friends…
Our long awaited appointment at Children’s Hospital of Philadelphia (CHOP) on January 6, 2010 has finally passed and was well worth the wait. I’ll apologize ahead of time for the length of this post as I summarize a five hour appointment. Yes, five hours.
First off, we finally met with all our new friends on Maddie’s Team. I will name them here because we will use the names often in the future posts. Get ready…the list is a bit long. The CHOP team includes Dr. Bonnemann and Dr. Finkel in the Neurology Department, Dr. Mayer in the Pulmonary Department, Livija the Genetic Counselor, Allan the Physical Therapist, Donna the Dietician, Joan the liaison to Genzyme and Alan, Social Worker/Coordinator. The extended team includes Dr. Barry Byrne at the University of Florida; the folks at Genzyme including Dr. Edward Kaye the Vice President for Clinical Research, Lynda Phillips our Case Manager, and David the local rep. Beyond that is a small group of patients and parents including two teenagers in Southern New Jersey who receive their enzyme replacement therapy (ERT) at CHOP. Yes, Donna already has the mom’s home and cell phone numbers!
Whew! Now that we’ve covered the team, here’s the latest on Maddie’s diagnosis and the path forward.
In the opinion of the doctors, Maddie has the late-onset form of Pompe. They said if it weren’t for Maddie’s hair loss and resulting blood panels she probably would not have been diagnosed until she was between 19 – 25 years old. Fortunately for us, our pediatricians were aggressive and we found it early. That’s good news!!
Livija then gave us a crash course in genetics and explained that Maddie has one gene producing no enzymes (null gene) and one gene producing abnormal enzymes. The second is still working, but at a limited scale. So how did she get this? Well there are three options. Option one is I gave her the null gene and Donna gave her the gene producing abnormal enzyme. Option two is the opposite. Option three is one of us gave her the null gene and she had her own genetic mutation occur causing the abnormal enzyme production. However, option three is very unlikely. If Maddie (or anyone) has a null gene, but a normal gene producing enzymes it is fine as you only need a percentage of the enzyme on a daily basis. Confused yet? Imagine sitting there and talking about exxons, introns, and frameshifts without an afternoon coffee.
So, Donna and I gave blood and will have our own genetic tests run to see who gave Maddie which genes. We will have the results in 3-4 weeks. An interesting side note is the potential family connection with John F. Crowley portrayed in the Extraordinary Measures movie coming out on January 22nd. His two children have the Infantile version of Pompe which is much more severe as their genes produce no enzymes. If I am related to him, my test results will need to show a null enzyme, meaning that one is producing nothing while one is perfectly normal. If not, we are not related.
There are three treatment options. The first is Myozyme from Genzyme which is an Enzyme Replacement Therapy (ERT) and the only FDA approved therapy for Pompe. The second is the clinical trial being run by Dr. Byrne at University of Florida using a mix of Myozyme and “chaperones” from Amicus Therapeutics (John F. Crowley’s company). The third is gene therapy, also at UofF. Dr. Bonnemann said ERT is the “gold standard” today and his recommendation. The other two are in early phases. In addition to these there are companies such as Zystor who are working on new therapies of Pompe while Genzyme looks to optimize the existing one.
Maddie will begin Myozyme treatments in a couple months once the planning and insurance processes are complete. Dr. Bonnemann said she could start as late as Summer, but we prefer to get the process moving. The ERT treatment will be given at CHOP’s outpatient center one day every other week for one year. For approximately the first 6 – 9 months the treatments will take 8 hours with 1 hour to prep, 5 hours of infusion, and 2 hours of monitoring. In the future, the infusion and monitoring times will be shortened so the process will take 4 hours. After, the first year, Maddie will be able to transition to a home care setting where Myozyme will be administered at the same frequency FOREVER (yes, I did say forever), or until a better therapy is developed.
The side effects of Myozyme appear limited and are mostly infusion related such as chills and fever, but Dr. Finkel has only seen this in about 25% of the patients. The effectiveness of the treatment will be measured by pulmonary (breathing) and muscle (strength) tests at a 3 month then 6 month interval. We also had a long discussion about administration processes, antibody development, etc., but I’ll leave this out to save space. If you want more information, let me know.
The dietician will be investigating a high protein / low carb diet for Maddie and we will also receive information on recommended exercises. In short, a well balanced diet and simple exercises that do not break or damage muscle are acceptable. So, walking, an easy bike ride, and something like dance are great options. The World Weightlifting Championships are not in her future, but then again not in mine either.
The next steps include insurance verification for Myozyme treatments, and a series of tests to develop a baseline. These include an echocardiogram, brain MRI, and pulmonary function test (lying down).
Through the whole appointment Maddie was her usual self, inquisitive, funny and hard working. In the middle, she was discussing the value of her iTouch against the doctor’s iPhone and sharing stories of playing violin.
In the end, we are exhausted, but very pleased with the support and knowledge of our new friends. In the coming years our new friends will become part of our extended family that reaches from California to Pennsylvania. Maddie has a challenging road ahead, but we are confident she can make it with a little help from her friends.
Credit to: The Beatles, "With a Little Help From My Friends"