I am back filling this journal so all the information is here.
May 4th 2006
Well some of you know and some do not so I thought I would send a group email to get everyone up to date on what is going on with Miss Dani.
Last Tuesday (April 25th) we received a call from the Geneticist from Children’s and Dani has a cell storage disorder called MPS1 or Hurler’s Syndrome. This is were Dani has an enzyme missing that should disposes of a certain sugar. With the enzyme missing the sugar will build up in the body in different places (heart, liver, spleen, and bones as example). There are a number of effects that Dani could experience some being dwarfism, mental retardation, blindness, and deafness. The normal life expectancy without treatment is 5 to 10 years. That is the bad news.
The good news is there are a couple of treatment options. The first one being an enzyme replacement therapy. This will actually put the missing enzyme back into Dani’s system and will hopefully help tremendously. This procedure has only been available for the last couple years and long term prognosis is not available but the clinical trials were very favorable. She will have to do this once a week for 4 hours day. It is given via IV. This however will not reach the brain so will not help in any mental retardation issues nor the eyes. This is a first step in helping fight the disease but not a fix and without the next step is a life long treatment. There are some side effects that she could experience but overall everyone that has had it did fairly well.
The second treatment is a bone marrow transplant. The BMT has shown tremendous benefits for Hurler’s. It will help in all areas of the body. If the BMT is successful it will give Dani back the enzyme she is missing. So there would be no additional harm done to her and some of what has occurred could be reversed. It will not reverse any mental retardation but would prevent further. There is also mixed results on whether eye site already effected would be helped but no additional should occur. It is a scary thing to have to face but if it helps her in the long run we will do what we have to.
So far Dani’s only sign of the disease is her heart & liver and some facial features that are more pronounced. In the next month they will be checking her eyes and just today we did an ultrasound on her liver, spleen, gallbladder, and bladder. We will be meeting with Hematology (Bone Marrow Transplant) doctors Monday May 8th and find out further information in that area.
We are having difficulties with the insurance in the BMT department. This is such a rare disorder that they have never heard of it so of course it is not an approved procedure. They denied it right off the bat. We will be filing a grievance (appeal) next week to push that along. The sooner she has a transplant the better. We did find out that they will test Jason and I for the transplant but after that they will go out to the public bank to find a match. So for right now we are not going to be asking anyone to become a donor. But if they have a difficult time finding a match we might have to in the future.
The boys know nothing about this and we want to keep it that way for awhile. There is quite a bit of information on the web about the syndrome and it will probably explain it better than I did. I just wanted to get everyone up to speed on what is occurring.
If I forgot anything sorry its been a long day but ask away if you have questions. If I left anyone off please let me know and I will add them or if their email address has changed I will update it.