Wednesday, May 31, 2006

Wonderful News!!!! 5/31/06

Late this afternoon Jason and I learned that Miss Dani has the funding to start the transplant process. I will not go into too much detail right now but we hopefully will be getting her typed on Friday when she goes in for her Enzyme Replacement Therapy (ERT). I think it is just starting to soak in now that she will soon be starting the process to give her a chance at a normal life. We want to thank all of you for everything you guys have done to get the word out that Dani needed help. If it wasn't for everyones support and prayers this would not of happened. We obviously have many hurdles to go but this was a huge one.

Just a quick update on the Fundraiser July 8th. We have had such a huge response back from everyone that we believe it will be too big for the neighborhood bash we were planning. We are now looking into Halls and I will let you know when I know more. I do know that Tony Twist will be there. Have I mentioned that I loved watching him play???? I really enjoy watching him and the guys arguing on Chalk Talk. Now if we can get Al MacInnis and Kelly Chase I will be in heaven. Of course it is not about me. Also I believe WIL and KMOV will be there. I will keep you posted on the growing list.

Tuesday, May 30, 2006

Cardiologist Visit and Eye Glasses 5/30/06

Isn't she cute? She actually looks cuter in person with her glasses. She got Disney Princess Cinderella glasses. They are wire rimmed with the ear pieces that hook all around the ear. They might stay on ... lol.

Dani's cardio visit went fine. She is considered stable with maybe a small amount of improvement. Dr. Goel definitely said her liver seemed smaller. She goes back in August for another visit.

We are going to have another fundraiser in August. I will let you know more details as I get them. Heather (my niece) is working on that. She already has a lodge in Wentzville reserved.

Just let me say again we are so appreciative of everyone's help and advice. It has been wonderful all the support we have received from all corners of the nation.

Monday, May 29, 2006

Trip to the Emergency Room 5/28/06

Well we thought we were going to have a nice relaxing long Memorial Day weekend.

Friday night we noticed that the new dressing over the C-Line incision had a pretty good size bubble in it (it is a clear adhesive patch) and called the home nursing care to see what they thought. They just said to keep an eye on it and if it got worse give them a call.

Saturday night when we were changing her into her night clothes we saw that the bubble was filled with blood. Obviously concerned we called the home nurse again and she talked to us and said that she would come over Sunday Morning and check it out. Until then put a pressure bandage on her chest to see if that helps.

Sunday around 11:30 the nurse came and was very concerned with the amount of blood she saw. She went ahead and changed the dressing put a pressure bandage on it and called Dani's doctor. They decided to let us check it every couple hours and if it bled again (around a quarter size) then to go ahead and call them and then head on in to the Emergency room.

At 9:00 Jason was changing her into her night clothes and noticed there was some blood. He was worried and wanted to head to the Emergency Room just to make sure everything was ok. So off we go.

They got us in a room pretty quickly. They did not like the amount of blood either. They had us go to X-Ray to make sure the C-Line was placed correctly. That came back fine. A doctor from surgery came and changed her dressing and looked it over. A little rough from our perspective but what can we do? Of course it was the usual hour between each visit. They drew some blood to check how well she is clotting. Then a head doctor from surgery came in. They thought it was probably the 1/4 baby aspirin that she takes that is not helping the healing process. The problem is even after we quit giving it to her it stays in her system for 4 or 5 days. They offered to put another stitch in but Jason and I thought that she had been through enough for the weekend and decided to see if it got better with just stopping the aspirin. They also said her white blood cells are up. Normal is 5-15 and her count on Friday was 14.9. Last night they were 19.2. They said the want to keep an eye on that because it could mean she is getting an infection. But it also could just be her body trying hard to heal itself. We go to her heart doctor Tuesday and will confirm with him about the aspirin and have them check it again. We got home at 2:30 Monday morning. Yippee!!!

Friday, May 26, 2006

ERT 5/26/06

It is amazing how much stuff happens in two days. Most importantly Dani did wonderfully again today with her Enzyme Replacement Therapy. Even when they changed her dressing on her C-Line, which looked painful to me, she did not bat an eye. Gabe and Ethan went with us today. Hopefully that will be the only time they have to go, they did a fantastic job of being good and keeping themselves entertained. I can not thank the Bone Marrow Transplant Department enough for letting us set up shop there. We had her playpen, both of our laptops, a printer, the boys toys, and her stroller (with diaper bag) all there and it worked beautifully. So I will now proceed to tell you what all has occurred in the last two days.

We have received some wonderful contributions to Dani’s fund toward her getting typed and sent to the registry. I can not express my gratitude enough to everyone, especially Fonesys Communications (Rich & Robbie) and Scottman’s Jewelry Store. It is so hopeful how generous people can be.

And I did hear back about getting Dani typed and put on the registry. It sounds like the average is $39,000. They said it ranged from $17,000 to $78,000. I would imagine it depends on how long it takes to find a match. The good news keeps on coming.

I also talked to Trish in Belleville yesterday. Her son, Aaron, has Hurler’s. He is 4 ½ years old. He had his transplant in 2001 at University of Minnesota (they were the only one doing the procedure then) and did wonderfully. They were there 7 months.

Jason and I are planning on going to the open auditions of Deal or No Deal tomorrow at Casino Queen. Hahaha. Whatever we need to do to get her taken care of.

Keep in mind the Fundraiser on July 8th. When I get a flyer I will post it on here and probably send an email also.

Jason & Lexie Cox’s (Stefanie (my niece) and Jerome’s friends) are planning a fundraiser in Columbia. They have both been wonderful in working their circle to find us out as much information as they can. Miss Dani is ready to make her appearance whenever necessary.

I believe a Golf Tournament might be in the works also. I will post it here when I have more information.

Wednesday, May 24, 2006

Eye Doctor Appt

Well today was a day that we would like to forget. What we thought would be a simple eye doctor appointment turned out to be an all day affair.

We arrived at the eye appt at 9:45 (our appt was at 10:00 am) and left the hospital at 2:45. Yeah .... We did not even bring her stroller up because we did not think it would take that long. We know for next time. Snacks, labtops, and stroller needed. Yuk!!!

So what was concluded after three trips to pry Miss Dani's eyes open? She has to be sedated to get a more thorough look at them. Yup you heard it right. We made that appointment with same day surgery on July 11th.

They did give us a prescription to get her glasses and no we do not know how that is gonna work. They said she could only see 2 inches in front of her before things start getting blurry. She grabs everything so how is she going to keep glasses on? We are hoping the experts have that all figured out.

Ethan likes the idea of Dani joining him in the glasses group.

I received a call from Jim Talent's Washington office today. Sarah is going to work with us to find alternate methods to get the goal of a transplant accomplished. She is currently going to check on NIH (National Institute of Health) to see what she can find out. She also mentioned something about non-profit groups helping. Hopefully that will pan out.

Final note the home nurse came this morning to show us how to flush her line and it seems relatively simple. We should not have to change dressing or the caps because we go weekly to Children's and they will take care of it for us.

Tuesday, May 23, 2006

Central Line Surgery May 23, 2006

Dani did so well today.

I woke her up at 3:15 am to give her a final bottle before the cut off time. We got to Children's around 7:05 (a little late) and got in pretty quickly. She was a trooper. Even though she was hungry she still manage to give us some smiles. Jason and I were nervous with the whole procedure. Jason was not convinced that the procedure was necessary at this time. There are cases of Hurler patients having issues with anesthesia because their wind pipes are smaller. We talked to the doctors and let her go. We just have to wait for a hour before the phone call that she did well. Probably another twenty minutes our beeper went off for me to go to Recovery.

I walked in to recovery and she was finishing her second 2 ounces of clear fluids and was really mad it was gone. She definitely let the nurses know. They handed her to me and she was such a welcome feeling in my arms. It amazed me the relief that came over when I held her. We stayed in there a total of 5 minutes and we were off to get Daddy to go to the room.

We got back to the room and they got 2 ounces of similac right away to give to her. She was on an IV drip but overall looked pretty well. She had a small mark on the corner of her mouth were the adhesive tape had been for the tube in her throat. I held her for a bit and Daddy talked to her and then we laid her down on the bed to try to rest awhile. You could tell she was still groggy from the anesthesia.

Grandma Dunn, Grandma Boni, and Trish were able to come back in the room. The picture I am posting is Miss Dani finding her thumb and resting. We were not in the room to long maybe an hour or two and they said we could go home she was doing really well.

Tomorrow morning a home nurse will come to show us how to flush her lines and check her dressing. Then at 10 am she has an eye doctor appointment.

Talk to you all soon


Filling in the Blanks May 18, 2006

May 18th 2006

The enzyme replacement therapy went relatively smooth today. We got to the hospital at 8:30 and left at 3:30. Hopefully we will get that time shortened as we get use to the process. She did wonderfully considering she had to be stuck for an IV and she was in unfamiliar sorroundings.

New info on the insurance. They are sending all of our information we sent them for the appeal out to a 3rd party independent source. I believe they said another transplant center. So to us (and they did not say this) they are looking past our benefit plan and at medical necessity now. So please keep prayers going and good thoughts. They said it would take 5-10 days to hear back but they were sending everything today. The BMT financial coordinators believe it might of been the media that has helped to push this further along. Also I know quite a few people sent personal emails to principal giving their opinion on the matter. Again Thanks everyone for all your help and good wishes. Its been amazing the support we have received.


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 []
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

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


Filling in the Blanks May 16, 2006

May 16th 2006

Channel 4 News at 10:00???

They just left and said it would be on tonight so keep an eye out....


Filling in the Blanks May 15, 2006 Part 2

May 15 2006 Part 2

I forgot the main reason for the email. I am trying to find out the cost of typing Dani and getting it out to the registry so we can at least get that rolling. Someone said it would be around $5,000.00 but I am waiting for the exact amount from the Bone Marrow Transplant unit.

Janet, Darren, Laura, & Pat (Jason's Aunts & Uncles) and a couple of their neighbors are working on a fundraiser July 8th. I emailed Heather the info also. They are talking a block party and it was amazing what they already had accomplished. Janet is going to put together a poster with the information and either one of us will email it out when its ready. They are near 94 and Harverster by the water towers. It will just be soo much a head and food/drink will be included and then maybe doing some raffles. I will let her fill you in later.

Thanks soooo much for all the support and it was wonderful hearing of soo many people going to the drive this weekend.


Filling in the Blanks May 15, 2006

May 15th 2006

talked to Lisa Ziegman (Channel 5) on the phone this morning and she referred me to Mike Bush. I emailed Dani's story to both of them so they had all the info. This afternoon Katy Kruze called and she also said Mike Bush was one to talk to so she was also going to email him.

I did file a complaint with the Department of Insurance and will follow up on that tomorrow. They have an expedite service so hopefuly it wont take too long. I talked to the BMT Coordinators and the insurance is saying even with this 2nd and final appeal they still will not be looking at medical necessity. So we will try but obviously we are not getting our hopes up.

I still have a call into the lawyer and am waiting for him to call back.

Dani starts her enzyme therapy on Thursday and on the 23rd she will get a central line put in. She goes to the eye doctor on the 24th and then the cardiologist on the 30th. The believe after this first ERT they will set the weekly date to Fridays and Jason and I will just alternate weeks. I had a meeting with the head of the company this morning and he said do what we have to do and not worry about anything here so that is a relief. We have our labtops and network cards so we can work from the hospital if needed. I will keep you all updated as I can.


Filling in the Blanks May 9, 2006

May 9th 2006

We went and talked to the Bone Marrow Transplant team yesterday and they gave us some general information on what the process is for the transplant. We also saw the unit which is made up of 5 rooms which have double doors and Hepa Filters in each. The time frame goes a little like this.

1. THE BMT Team is sending an appeal to the insurance and the insurance has 30 days to reply. The case manager at Principal said she has never seen it take that long. Hopefully they will approve it. Dr. Hayashi seemed to think it should not be an issue at all.

2. Once we get approval they will take samples from Dani and get her typed. This should take no longer than 2 weeks.

3. They will send that information the National Bone Marrow registry and try to find a match. He gave a time frame of 12 weeks. Some children have a harder time than other finding a match.

4. Once a match is found Dani will start the prep work for the Transplant which is 1-2 weeks.

5. Dani receives the transplant and as long as no major complications occur should be out of the hospital in 4-6 weeks.

6. Once her bone marrow is up to a relatively safe level she will be able to be around the family again. Maybe six months?

She will be starting the enzyme replacement therapy hopefully next week.

Ok to the exciting but short notice portion of the email. I found a bone marrow drive that is occurring this Saturday May 13th on Olive Rd at Creve Coeur Fire Station #1 (11720 Olive) . It is free of charge and all they do is a cotton swab in the mouth... NO NEEDLES!!!!. I will put the link to the flyer on here also. The drive is for a little boy that has a blood disorder and his brother found a match and he still has not.

Now the doctors wanted me to make this clear to everyone that wanted to donate. This will go into the National Registry and if you are only willing to donate to Dani then please do not donate. I personally can not imagine finding a perfect match for Dani and calling them and them saying no they just did it to donate to a specific person.

Just to give further incentive to go.... if you just want to donate your bone marrow to the registry there is a $52.00 charge associated with it and this is free. Also it will take six to eight weeks to get the samples from the drive to show up in the Registry so that would be good timing to when we need to find a match. It is a great way to save a life.

Below is the link to the National Bone Marrow Registry donor information so you can read more of the process if you are picked.


Filling in the Blanks May 4, 2006

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.


Thursday, May 18, 2006

Our Struggle Begins...

To start with, we'd like to thank everyone for your support during our struggle....

You see Dani has a very rare genetic disorder call Hurler's Syndrome or MPS I. Its part of a group of storage disorders called Lysosomal Storage Disorders.

Her particular illness stems from her genetic code that is missing a necessary enzyme that breaks down materials in the cells of her brain, heart, liver, skeleton, etc. Its a degenerative illness that over time and left untreated can claim a life typically by ages 5-12. The materials that are broken down collect in the brain and cause eventual mental retardation, in the eyes causing blindness, deafness, cardiomyopathy, liver failure, carpal tunnel syndrome, scoliosis, joint stiffness, and dysmorphic facial features.

There is a treatment called Enzyme Replacement Therapy that is available to her which will improve her cardiomyopathy and enlarged liver, but it does not break the blood/brain barrier so her mental condition will continue to degenerate over time with the eventualities mentioned above.

However with Bone Marrow or Stem Cell treatments there is success in Hurler's patients with relation to the mental capacities on top of all the benefits of ERT. Although this is a risky procedure it can not only prolong her life, oldest living is early 20's, it can help her grow and mature to the point that she can function in society, which includes her two young brothers Gabe and Ethan, grandparents, aunts, uncles, cousins, etc.

Unfortunately, the insurance company has determined at this time that a bone marrow transplant is against THEIR policy. We are currently appealing their decision and hope to have further updates as soon as possible.