Tuesday, May 23, 2006

Filling in the Blanks May 17, 2006

May 17th 2006

I wanted to make sure that I was following the right path with pursuing so feverishly the bone marrow transplant. I have read so many articles and journals from parents of children's with Hurler Syndrome and they have mentioned Dr. Kurtzberg by name. Duke University is where the enzyme replacement therapy clinical trials occurred. This just reinforces everything that Jason and I have read on this Syndrome. We really can not afford to let the days tick by without doing everything we can to make this transplant happen. Dr. Krutzberg alone has dealt with hundred's of patients with this syndrome. This is like a second opinion without actually taking her to Duke University ourselves.

You all have been wonderful and do not realize how much Jason and I appreciate every one of you. These last three weeks have been a nightmare but all the support we have received has been the light in the dark.

Thanks you all your help and support. We are so lucky to have family and friends like you guys. It really is amazing everything that has been accomplished in such a short time.

From: Joanne Kurtzberg [mailto:Kurtz001@mc.duke.edu]
Sent: Wednesday, May 17, 2006 6:34 PM
To: Kelli Boni
Subject: Re: Fw: Questions about Hurler's Syndrome

Dear Kelli:

Becky Levine from the Duke News Office passed your email on to me. I direct the Pediatric Blood and Marrow Transplant Program at Duke where we routinely transplant children with Hurler Syndrome. Children who present at a young age generally have the severe form of the disease which causes mental retardation, heart problems, corneal clouding which affects vision, bone and joint problems, hearing loss and other problems. Children with this form of the disease generally die by the age of 5-6 years if they are not treated. The type of Hurler Syndrome can be further studied by getting a blood test called mutation analysis. While enzyme therapy may help a little now, it will not help prevent the brain disease and mental retardation. The only treatment for this is a stem cell transplant which can be performed with cord blood or bone marrow. Your daughter really needs a transplant. Your insurance company should pay for this. Transplant is standard therapy for children with the severe form of Hurler Syndrome. You may have to appeal their denial but the appeal should overturn the denial. The earlier a transplant is performed, the better a child does. If I were you, I would try to get this resolved in the next 4-6 weeks. We can help if you would like us to. We transplant 10-20 kids with MPS here every year and 100-110 children overall.

Dr. K Joanne Kurtzberg,
MD Professor of Pediatrics and Pathology Director, Pediatric Blood and Marrow Transplant Program Director,
Carolinas Cord Blood Bank at Duke
Box 3350 DUMC 2400 Pratt Street,
Suite 1400
Durham, NC 27705
Phone: 919-668-1119
Fax: 919-668-1183
Pager: 919-970-2216
Email: kurtz001@mc.duke.edu.

Becky Levine
05/17/2006 04:43 PM
To: Joanne Kurtzberg/CanCtr/mc/Duke@mc cc: Subject: Fw: Questions about Hurler's Syndrome----- Forwarded by Becky Levine/MCAdmin/mc/Duke on 05/17/2006 04:43 PM -----

"Kelli Boni"
05/17/2006 03:57 PM
Questions about Hurler's Syndrome
Hi Ms. Levine, My 5 month old daughter Dani has just been diagnosed with Hurler's Syndrome. She was born with cardiomyothopy of the heart but they never knew what caused it until 3 weeks ago. Her liver is also enlarged and the x-ray showed a very minor amount of narrowing of her posterior ribs. We are having an issue with getting our insurance company to cover a bone marrow transplant. The say it is not listed an a expectable diagnosis for a transplant on our benefit plan. My question and I want your opinion of it because her doctor already said she has the most severe form is how do you decide the severity of the syndrome? I noticed in your article in Medical News Today you stated the less severe cases would be ok with enzyme therapy alone. She will start the enzyme therapy tomorrow. They oddly enough are covering that under our insurance. If your interested I am including the link to the CBS local news station that did a story on us just last night.

Thanks Kelli Boni Purchasing Coordinator STL Communications (314) 324-1209 Fx (314) 628-9988


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