Skip to main content

Manicotti with a side of Myozyme

Last Thursday, Donna and I had lunch with more of our extended Genzyme family.  Sarah is in their Personalized Genetic Health team working with the area doctors.  Constance is an RN and Patient Care Liason who works as an trainer and advisor to doctors and home care companies when they set up IV therapy.  She will be at our house when Maddie begins her home infusion - - in 2011.

Before the waitress took our drink orders we learned that we know more about Pompe than we expected.  However, there is much to learn.  For example, the US has only a few hundred Pompe patients so when they say rare, they mean rare!  Several times Constance reminded us that we are in a very elite club because Maddie has one gene producing no enzyme and one producing only a little.  I wanted to reply with my favorite Groucho Marx quote, "I don't want to belong to any club that will accept me as a member", but I contained myself and just smiled.

We were pleased to hear that there are several companies, including Genzyme, that are developing improved therapies for Pompe which we hope Maddie can benefit from.  We also learned CHOP has the only Glycogen Storage Disease Center in the country lead by a number of specialists we have yet to meet.  (Pompe is one of 5 GSDs.)  Also, CHOP is considered the leading hosptial in the US for Pompe.  OK, maybe we can take the cold weather and another season of Donovan McNabb

Bon Appétit ,
Matt

Comments

  1. Jenny HobbsFebruary 2, 2010 at 9:11 AM

    I found your page this morning.
    Here is one more link for your page: www.agsdus.org
    There are actually 12 different types of GSD. I don't know much about CHOP but Duke treats a lot of Pompe. We take our kids to the University of Florida where they have a GSD program that focuses on the liver types.
    Good luck with Maddie! My youngest is Maddie, too! :-)
    Jenny

    ReplyDelete
  2. Karen CrowleyFebruary 3, 2010 at 1:05 AM

    Well, Dad said there was a reason you were supposed to go to Pennsylvania! God is good!

    ReplyDelete
  3. AnonymousFebruary 4, 2010 at 6:27 PM

    Constance is a name you don't hear often. Like the word lovely. I hope Constance was lovely

    ReplyDelete
  4. MoniqueFebruary 6, 2010 at 2:04 PM

    Matt & Donna: Thank you for your kind note and thank you for all the information you share here. I think I have learned more through your blog and with the information you have sent me than anywhere else. I will continue to check back here often. Best wishes to you and Maddie!

    ReplyDelete
  5. AnonymousFebruary 27, 2010 at 2:53 PM

    Love to you guys.

    ReplyDelete

Post a Comment

Popular posts from this blog

The New Adventure

Madeline Jane Crowley is an 11 year old girl living in suburban Philadelphia who was diagnosed with Juvenile Pompe Disease on November 18, 2009. Maddie is a vibrant child filled with humor, energy, and wonder. She believes in her family, friends, doctors, and the magic that can happen when people dare to believe. Her care is being lead by Dr. Bonnemann MD, Asst. Professor of Neurology and Pediatrics, at Children's Hospital of Philadelphia (CHOP), and includes a team consisting of a Genetic Counselor, Physical Therapist, Clinical Trial Specialist, Nutritionist and many others. Maddie will begin treatment with Genzyme's Myozyme drug in January 2010. What this means, we don't know. But we do know that our family and loved ones will support her every step of the way. Whatever happens we will fight for our daughter and will succeed in helping her and many others battling this disease. All for one, and one for all! Sincerely, Matthew and Donna Crowley
31 comments
Read more

The Long and Winding Road to Diagnosis

The long and winding road That leads to your door Will never disappear I've seen that road before It always leads me hereLead me to your door. Hello all. Thank you so much to everyone who has visited Maddie’s blog to date. We are humbled by the response and empowered by all the positive comments. I thought it might be helpful to briefly explain how we got here, so here we go… In May 2009 Donna noticed Maddie was losing some hair so took her to the pediatrician who ran blood tests to see if she had a thyroid problem, mono, or other issue that might be linked to hair loss. The results came back showing elevated liver enzymes which caused the doctor (thankfully!) to forward the information to the top liver specialist at CHOP. We met with Dr. Rand who was wonderful and assured us that they would determine what was going on. Maddie then had a liver ultrasound and additional blood tests to rule out a number of possible culprits. The results showed an increase in the CK enz...
15 comments
Read more

July's Forecast...Reduced Snowflakes

The night before we moved from our Northern California home a friend who learned we were moving to the Northeast asked me a question.  "Do you know it snows there, even when you don't want it to?"  I laughed it off speaking instead about the beauty of the Northeast, my new job opportunity, and of course the cheesesteaks.  While I thought it was a humorous question at the time, I must admit I repeat it each winter as I gear up to clear the snow from the driveway.  Seven years after living on the east coast I've realized I have two favorite parts of a winter storm.  The first is watching a heavy snowfall where the snowflakes are so large and distinct you can reach out and touch the magic of winter.  The second is when that last bit of snow is washed away by a gentle spring storm clearing the way for warm, sunny days.  Sure there's all that other "stuff" in winter that's cool too, but when it comes to co...
15 comments
Read more