Thanksgiving

Hope everyone has a great Thanksgiving.

Everyone on Facebook has been doing their daily things they are thankful for....so I made a list of some...but not all....

1. my sudden decision to move to CA at 21 with no family, meet some boy and get married - without this I wouldn't have my Haven.

2. Johns Hopkins - without their knowledge and skills I probably would've lost my baby.

3. Kris - taking care of Haven 24/7 for the past 2 years and if he wouldn't have been able to take over 100 days off this year and get Haven to the hospital I may not have my baby.

4. ROHHAD moms - without the strength of these mom's and the shared stories of their children I probably would've succumb to a mental breakdown.

5. Friends, Family, and Strangers who have taken the time to learn about my daughter, her illnesses and have stopped for a few minutes and sent me encouraging words or letters to my daughter.

6. The company I work for - without their understanding I would've missed the most precious moments with my daughter that I could never get back.

7. Child foundations - without many of these we may not have been able to get through the past 2 years - Casey Cares, Matt's Helpers Foundation, Make-A-Wish, Believe In Tomorrow, Make A Child Smile

8. Family for giving everything they could to Haven - paying for over a year of Lauren to be with Haven twice a week, working with home nurse to get a grant for Haven, custom made clothing, coming out to spend time with Haven and making her laugh, taking Haven when we need to get errands done....just everything

9. I'm very thankful I do not have to drive anywhere for the holidays - instead I only have to walk about 20 feet and get some yummy food.

10. Thankful my mom has made 2 turkeys and 1 ham this year.....now my dad won't whine that everyone takes all the leftovers and he doesn't get any.

There are a million more......

Immobile

I'm done with the confinement of the couch and elevated foot! I have fallen at least one time every day since surgery. Yesterday was the worst. Trying to go to the bathroom is HORRIBLE! I took one hop in to the bathroom and BAM was on the floor. I was caught by my knee on my good leg --- today it has a huge black and blue bruise! Not to mention trying to pull your pants up while balancing on one leg and knowing a tub is on one side of you waiting for you to fall in!

This morning I woke up in a lot of pain but it wasn't the normal areas. Usually the pin is the most painful area and the area between the big toe and 2nd toe - that's where she cut away the "soft tissue". Today it's the side of the foot that had nothing done to it. I pulled the gauze up a little bit so Kris could take a peek and his face was enough. He said it's practically black from bruising.

I haven't had a pain pill since last Thursday but I took one today and am waiting for it to kick in. Kris requires that I do not open the computer for the first few hours of the pill. I wrote an email to Haven's doctors while loaded on meds and the doctor told Kris he didn't know how to respond. So I will sleep.......

Nikkideez comes this week - we will go to my mom and dad's on Turkey day. They are cleared to see Haven that day.

I got some get well cards from my aunt Candy and Grandma today --- that was very nice! I'm so used to Haven getting mail I gave them to her and she said they were for me.

I'm also selling some stuff on Ebay and am excited to do so. You can pick a charity that you want to donate a percent of your earnings to. I checked and one of our favorites was on there. Casey Cares Foundation. I was looking for Matt's Helpers Foundation but they were not on there. So right now 10% of my ebay goes to Casey Cares!

Casey Cares sends Haven tickets to parks and concerts, we've received restaurant gift cards, Halloween t-shirts, and an awesome Casey Cares t-shirt.

Matt's Helpers has been there from the beginning too. They have sent us money, gift cards, and gifts for Haven. Just recently they sent us $200 in gas cards. THESE ARE AWESOME! Kris is the only one that uses these. The only place he goes is Hopkins so one tank of gas lasts him 2 - 3 weeks. So these cards will last a few months.

THANK YOU EVERYONE

RARE DISEASE DAY 2010

Post from NORD web site:

Official U.S. Rare Disease Day Website to Launch Soon

As the sponsor of Rare Disease Day in the U.S., NORD has created a website where activities and events for Rare Disease Day 2010 will be posted. Watch for the launch of this new site soon.

ROHHAD - Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation Neural Tumor

When my daughter was diagnosed with ROHHAD I was adamantly opposed to the diagnosis and I got pretty pissed off when I was told. Because only 30 children in the WORLD had this and how could my daughter have it. I called many hospitals asking for information (UCLA, Ceder Sinai, Mayo Clinic, St. Jude.....) and none of them had heard of this disease. I checked NORD and GARD and nothing. Finally I found another child, Josh Wooten, and contacted his mother for more info. Then I found a comment written on Vanessa's site from Julie, Mason's mom. She emailed me and we began to talk.

I really felt lost and alone with this new diagnosis. I couldn't find anything on the internet about ROHHAD and the top hospitals I called couldn't help me. There was only one group of doctors that had done any research. I read the research paper over and over and created a spreadsheet listing the exact symptoms and ages the doctors had noted. I wanted to compare for myself all of the symptoms that Haven had. I looked through Haven's books where I made my own notes. Once I filled this out I sat in disbelief that my daughter could have such a terrifying disease and no where to go.

Below is the spreadsheet.

CLICK CHART TO SEE THE FULL SPREADSHEET



CLICK CHART TO SEE THE FULL SPREADSHEET


I probably would've gone insane if I hadn't met these two moms. It was only a couple months later that another mom found me. This was Maureen, Sophia's mom.

At this point my daughter's Pediatrician also found many articles written about ROHHAD and another reasearch paper from some doctors in France. They noted 6 children with ROHHAD also had Ganglioneuroblastoma Cancer and that this tumor comes with ROHHAD. After I saw this I checked the spreadsheet and 1/3 of the patients in this compilation had the same tumor. But a rebuttal stated that the tumor should not be the ultimate decision in diagnosing ROHHAD as a child could be misdiagnosed and have fatal consequences. So instead of ROHHADNET it has remained ROHHAD.

Now I have been told that there is some disbelief that my daughter even has ROHHAD because she is not on a trach and has not stopped breathing. I call this BS and a big load of it. As noted to the doctors in France to not only look for a tumor to diagnose I don't believe you should only look for Hypoventilation to diagnose. Especially when it would seem that Hypoventilation doesn't usually occur until between ages 6-8 years old. That would mean I would've had to ignore my daughters symptoms for another year to two years. At that point it could and probably would have been too late and my daughter may not be with me.

IF we were to only be looking at children with Hypoventilation and on a trach why call the disease ROHHAD? Why not call it Hypoventilation Syndrome?

I do not believe you should say a child doesn't have a syndrome because they do not have one specific symptom when they exhibit a majority of the symptoms in the proper age range. So with the tumor - no a child shouldn't be discredited because they don't have a tumor or that would mean only 6 of these children REALLY have ROHHAD. And you shouldn't say only children on a trach have ROHHAD because that would be throwing out all of the other above symptoms. AND my daughter hasn't even reached the proposed age at when Hypoventilation should happen.....nor am I willing to wait for it to happen.

I PRAY MY DAUGHTER NEVER EXPERIENCES HYPOVENTILATION AND THAT THIS IS AS FAR AS HER ROHHAD DAMAGE GOES!

Now rather than discredit me, my child, or our doctors I say you give me a little credit for bringing this unknown disease to the public eye as best that I can!

Visit to doctor

well I had my visit to the doctor. And YES my foot is that swollen! We've had ice on it round the clock and still it's swollen.

We took two xrays. I think Kris enjoyed looking at the before and after xrays - you could see where she cut the bone and moved it and then pinned it.

The pin sticking out the side goes from where you see it to the bottom of the upper knuckle of the big toe. Hence the reason I couldn't bend it. She put a lot more gauze around it this time because I was feeling it too much before.

There are about 15 stitches on the upper part of the foot that she will remove on December 1st.

The pin will be removed in about 4 weeks.

I have been ordered to not put any pressure on it at all until she looks at it again and lets me know. So guess what....I came home and took a nap then got up and fell on my butt! But I saved my foot!!!!

YES IT HURTS!

Foot surgery

Well this is all I have for now......

Surgery was Monday at 8:30am. I met with the anesthesiologist right before and she told me a few things I wasn't expecting and I wanted to cancel surgery right there!

First the anesthesia was going to be so light she said I might wake up during the surgery! WHAT??? I don't want to know anything about it.

Then the doctor came in to go over what she was going to do again. She cut two bones in my right foot and grinded down another bone. Then pinned them together. One of my pins is sticking out of my foot by 3/4 of an inch. It sticks out the side.

Well I did. The first time I woke up I could hear the doctor grinding on one of the bones in my foot. I started yelling that I could hear her and I didn't want to. So they knocked me back out then I woke up again and instantly was crying. I could feel her pulling the skin on my foot apart. I didn't want to feel that. I heard the nurse say "don't cry" and then I was out again. The third time I woke up I was over it. Instantly started asking if we were done yet because I was tired of laying there. Well they were, they were just wrapping me up.

There was essentially no recovery because I was in and out so much during the surgery. They went over a few things with me which I couldn't remember - at least Kris had talked to the doctor.

Monday I slept the rest of the day and cried most of it. The pain was so intense and the Darvocet was doing nothing. I practiced breathing and mind over pain instead. I think I finally passed out around 3am from pain.

Tuesday the pain was much better - still hurting a lot. I have been using Haven's wheelchair instead of the crutches. It's just too hard in the house.

Wednesday was all about pain where the main part of surgery was. The bone on the outside, the bone between my big toe and middle toe, and the pin sticking out the side of my foot. Didn't matter what position I was in it hurt. I didn't get to sleep lastnight until around 4:30am only to have Haven yelling to wake up at 6am.

Today is the same as yesterday. I can't get a good position. I woke up with a major allergy issue of my eye. I had this for a couple of weeks before surgery but it started to go away. I think surgery has taken my entire body to heal which has left my eye open for infection. I called my doctor this morning and she called in an antibiotic for me. Now I'm guzzling orange juice and vitamins. I have to be healed completely 100% by January 25th!

This afternoon I go back to the podiatrist and she is going to unwrap the foot to look at it, clean it off, and rewrap it. Look for some cool pics later!!!! I can't wait to see my foot. It makes you crazy not being able to see what's going on. Kris looked at my toes yesterday and they were extremely swollen and turning black/blue. I want to know what is burning at my heel.

Love to all.......

Prepping for Surgery

Well...my day is being spent prepping for surgery. Everyone seems a bit concerned about laundry, food, and house cleaning after my surgery. So I'm overdoing the laundry to make sure everyone has clothes, going grocery shopping, and cleaning.

Cleaning is not going so well since everything is cute to Haven and required that we must keep. So I'm probably going to leave the pink room as it is. Everytime I grab something she wants to know why that has to be thrown away. UUUGGG....

Tomorrow at 8:30 am I will have surgery. I'm quite a bit nervous. Not about the surgery but not being able to walk for a while. That scares me more than the surgery. I did get my new pain meds. The doctor originally prescribed Percocet - which I did realize was Oxycodone. I can't take that because it makes me feel like bugs are on me and very itchy. So it was changed to Darvocet.

It's a beautiful day today and Haven has homework that requires her to be outside. So we're going to do that while I'm still able to walk.

I asked Haven if she was going to help take care of me and she said sure as long as she wasn't busy with her crafts and school work. :) Yea, she loves me.

ROHHAD NEEDS HELP

I can't handle the pain and suffering from families and having no where to turn because no one knows about us. We don't have an organization or a foundation to turn to. I feel I must try to find a way to begin a non-profit organization or a foundation to help our families. I know MANY ROHHAD families now and have talked to quite a few mom's. Desperate to save their child and not even understand what they are trying to save them from.

NO CURE - NO TREATMENT - NO HELP

Many of us spend the first year being told by doctors that what ever it is it is the fault of the parents. We lose this time trying to diagnose our child and we lose key areas needed for our child to function.

Shelby lived in Arizona....she is 7 years old. She traveled to California in hopes of help and was diagnosed with ROHHAD but the doctors didn't know anything. Now they have moved to Illinois in hope of something with Dr. Weese-Mayer and her team. Shelby's insurance is almost out and they have no where left to turn.

Nikki spent almost an entire year in the hospital away from her family.

Sophia has had pneumonia 5 times this year and more and more symptoms are popping up and the family is left defensless against stopping her from slowly getting worse.

Mason is testing medication in hopes of helping him be able to breathe on his own again

Haven has spent two years trying different chemos in hopes of stopping the disease and offering hope for other families

Josh is living with a vent and pacer to help him breathe and lead a normal life

Denika is has been forced to leave her home to stay in a hospital away from her family in hopes of saving her

Noreen is constantly fighting infections and her condition worsens as time goes on

There are more families than even listed above. We only have 40 - 50 of us in the ENTIRE world. How do you get anyone to listen to a such a small group?


Are we supposed to sit here and let our children slip away because no one knows about our disease. Everytime I go to bed at night I stress that Haven may not wake up in the morning. I don't want her sleep walking to stop - if I can hear her screaming or talking or walking around I at least know she's breathing.

I'm asking for help from anyone who may know how to start an organization that can help our children. Should I have a web site created? Should I have a forum? Do I need an attorney that I can't afford because I just spent $2,300 on medical expenses from the past few months?

There are two more girls about to go on a trach/vent to breathe....age 5 and 7.........where do we go?

Revimmune or Rebooting the Immune System

Well this is what we did this summer with Haven. It's a fairly new process and is being used in aplastic anemia and MS patients. With the evidence that ROHHAD is an autoimmune disease Hopkins felt this would be one of the best options for Haven. Since then I have found articles written on Revimmune. I didn't know that word existed until I typed in to google "high dose cyclophosphomide". It is very interesting to read about. I have a few areas that were most impressive to me.

Revimmune therapy consists of an ultra-high intensity, short-course, intravenous formulation of cyclophosphamide. It is believed that Revimmune "reboots" a patient's immune system, thereby typically eliminating the autoimmunity. The "rebooting" process is achieved because Revimmune eliminates the cells causing the autoimmunity and spares the stem cells in the bone marrow. These surviving stem cells are then able to repopulate a restored, uncompromised immune system.

The HiCy 1-time regimen used in the current study has been shown to be safe and effective in autoimmune diseases, including lupus erythematosus, autoimmune aplastic anemia, and myasthenia gravis.

The regimen, which was developed about 15 years ago by Robert Brodsky, MD, and Richard Jones, MD, hematologists at Johns Hopkins, works by eliminating the "misbehaving" immune system while preserving hematopoietic stem cells, allowing the immune system to "recreate itself from scratch."

And then during my random searches I found this in a forum - from 2006:

I am, like you, very interested in high dose cytoxan. However, rather than pursuing the route of receiving one infusion per month over a five or six month period, I am interested in the "Revimmune", or "HiCY" protocol, now in clinical trial at Johns Hopkins. This protocol is basically the same dose of cytoxan that one would receive as conditioning for a bone marrow transplant. Over a four day period, you receive enough cyotxan to completely ablate, or wipe out, your peripheral immune system. Then, when your white blood cell counts bottom out to undetectable levels, you are given injections of Neupogen which cause your bone marrow to go into overdrive producing new white blood cells. They call it "re-booting" the immune system. The protocol has had spectacular results in a number of autoimmune diseases, like aplastic anemia, Lupus, multiple sclerosis, sarcoidosis and CIDP. The protocol has produced long-term remissions. You can Google Revimmune to research more. This treatment seeks to eradicate the autoimmunity, rather than "manage" or suppress it. For people with severe disease particularly those who are younger, and who are finding modest results with immunosuppresion or IVIG, it makes complete sense to me. Obviously, it has risks and it is not a "natural" treatment. You lose your hair, etc. But I, like you, am young. I'm 46, and am very disabled. I once was extremely fit, and was an expert snow skier.

The issue right now is that Hopkins has narrowed their focus to completing the next phase of a clinical trial for Revimmune to treat multiple sclerosis. Thus, I believe it will be difficult to obtain this treatment "off-trial" for a disease like CIDP for at least another year.

There are many articles out there about Revimmune.....I am actually excited that Hopkins approved Haven for this and we actually saw results.

And yes there is even a web site called: gothicy.com

Chiropractor

So with my scan below I decided to try the chiropractor and MAYBE it would help with my migraines. I met with her and told her everything I didn't like and what I didn't want done. Which she was very understanding and followed my orders pretty well.

The first visit we did xrays and I found out that I'm only phase 1 - if you've been there for 4 phases. My issues are with the last vertebrate of the lower spine L5 I think - well it's squished where the sciatic nerve is. There is a very small curve of scoliosis in the middle but she said nothing of much concern. Then there is a bad area in my neck between the C3-C4. That the C4 is being pushed out by the C3 and it is squishing the nerve there which could be a cause of my headaches. At this visit she only did minor stuff to my neck to prepare me. They guess that I need at least 50 sessions to be at complete.

Then I went for the 2nd visit and she really cracked up my back that time. She's pretty tiny so at one point she was laying on me while I was twisted. It sounds really bad but it felt good to get that pop. Only thing is the cracking of my neck gave me a headache this time - OR it could've been the electricity they put through my body. I am not a fan of this. She also did some stretching and stuff with me that my body was not happy about.

Today I went again but this time it was a guy. They didn't tell me I'd see a guy. I really only went because I had talked to the girl. Now I'm not sure if I will go if he can do it whenever. I felt really awkward with the guy. He immediately did the electricity but he didn't put it on my shoulders instead he put it below my belt line and the center of my back. I was defiinitely more tense with him doing it than the girl.

When I go back on Friday I will probably tell her if she can't do it then I don't want to come in. The good thing is that in 3 visits I do feel better and my back is not hurting half as bad. I feel much looser and it's not bugging as much to turn my head. I just don't know if I can have the guy twisting me around.