We met with Dr E., Hannah’s new genetics doctor today.  I really liked her from the standpoint she seemed to know what she was talking about, she was upfront, and she didn’t sugar coat anything.

However, based on what we told her and her examination today, she believes that Hannah likely has somewhere on the spectrum between type 2 and type 3.  The most concerning features were the obvious hepatosplenomegaly at birth (enlarged liver and spleen) and what she considered abnormal eye movements in Hannah.  I’ve noticed that it does take Hannah awhile to find something and to focus on it, but she did a eye exam on her, and she found that Hannah’s eye movements are similar to what we be considered the first signs of neurological involvement.  She also has brisk reflexes in her lower extremities, but that may or may not be related at this point.

She is glad we are meeting with Dr. S next week, as she has worked with him personally for many years.   He is a neurologist, and she is a genetics doctor, and they would work together on treating Hannah, as she works with quite a few of his patients.  I’m REALLY looking forward to seeing him next week — if anything, maybe he can say she was wrong and type 1 still is a real possibility (she says it is very unlikely that it is a severe type 1, but we just don’t know yet).

I thought type 2 was out of the picture.  I was hoping type 2 was out of the picture.  If it is type 2, we only have a year or so with Hannah.  That just can’t be possible.  She thinks it is possibly a slow type 2 or a fast type 3.  Both suck, but at least type 3 would give us more years to fight for a treatment.   

I spent the whole car ride home from the hospital visit in quiet tears, as Little Girl A was sitting in the backseat with Hannah on the ride home (she was watching a movie in the infusion center while we met with the doctor).  Thank goodness she had her Nintendo DS to keep her busy in the car. 

So now we wait for Dr. S’s evaluation, and we wait for the DNA sequencing to see if that will give us any answers.  In the meantime, she wants us to increase our developmental therapy to weekly instead of every two weeks as well as her occupational therapy, which we will be starting soon.

If you are one that prays, please pray they are wrong, and it isn’t type 2 or type 3 — or if at least it has to be one, make it type 3 so we can work to find a treatment!  If you aren’t the praying sort, just keep positive thoughts coming this way for the same thing…

I’m started to get a bit freaked out about Hannah’s first cerezyme treatment on Monday.  We are told to be there at 10 AM and to plan to spend 3 to 4 hours there.  We know that it is an IV infusion, and we know that it is being done at the hospital’s infusion center downtown so she can be closely monitored.

I was looking at Genzyme’s Cerezyme official list of side effects:  Side effects related to Cerezyme® (imiglucerase for injection) administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme® therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Symptoms suggestive of allergic reaction include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Approximately 15% of patients have developed immune responses (antibodies); periodic monitoring by your physician is suggested.

Even though I know this is going to help save her life (at least the physical symptoms if she does have type 3, as this doesn’t help the neurological symptoms), but wow, I am so worried about Hannah’s reaction to the Cerezyme…

I had a neighbor come by the other day who I haven’t seen much since Hannah was diagnosed.  She had been meaning to come by, but she just hadn’t had the chance.  She was asking me how Hannah was doing and how we are doing with everything.  I think I inadvertently downplayed the seriousness of the situation with Hannah.  I said she is doing great except for her obvious big abdomen, and I shared that she starts treatment in a couple of weeks.  She asked how I was doing, and I said I was doing relatively good.

The truth is that Hannah is not fine.  We don’t know what is going on with her.  We don’t know what type of Gaucher’s disease she has. We don’t know if her Gaucher’s disease is going to take her life before she even gets to be 21.  We don’t know if she is going to develop antibodies to the Cerezyme treatment because her GD is so severe that she doesn’t have any enzyme production, and her body may fight against the Cerezyme.  We don’t know if her minor developmental delays are just related to being born a month early or perhaps may be a sign of GD.  Hannah is going to have to go through hell for the next few months with the treatments not to mention the possible port surgery and the multitude of doctors visits. 

Am I really doing good?  I am holding my own.  I’m scared to death for Hannah, and I am stressed out.  I’m extremely worried about all three of our kids, and how this situation is going to affect (and has already affected) Little Girl A and Big Boy E.  I know I need to get them back into a normal life with extracurricular activities (her dance, him soccer), but I just don’t have the energy or the set schedule.  Having three kids is a hell of an adjustment. 

I’m worried about money — our savings is still dwindling, and I still don’t have an income yet, and I don’t know what we are going to do if I don’t start bringing in SOMETHING in the next few months.  Even with insurance coverage, we are still going to have to come up with about $1000 a month just for medical expenses that insurance DOES cover.  What about the things insurance may not cover?  I’m worried about next year’s insurance coverage, as even though coverage is good with Daddy’s company this year, they can make changes once the policy comes up for renewal.  Hannah’s Cerezyme will be even more expensive because she will be bigger.  

We don’t want sympathy.  I think Daddy and I downplay the situation to friends and his coworkers because we don’t want any sympathy.   But there is a part of me that thinks it is a mistake to downplay it when people ask as well … I’m not sure why I feel this way, as if we may be missing out on something.  It is hard to explain…if I understood why I felt that way, I would know what to say. 

The thing is I do want help from people, but I also want people to want to help.  But I’m afraid to approach people for help for fear of being turned down or being brushed off.   Self-esteem crash time, I guess.  But at the same time, it is hard to ask for help for something that you really don’t know what type of help you need.  I don’t even know where to start figuring out what I need help with.

I wish there was a manual on how to deal with this type of situation.

We had two appointments scheduled for today.  One was with Jewish Family Services to discuss what they have available for Hannah and our family, and the other one was with Dr. K., the hematologist/oncologist that Dr. G., the genetics doc, wanted us to meet with to get us familiar with the possibility of a bone marrow transplant.

I’ve cancelled both of them.

Dr. K’s appointment I cancelled last Thursday.  A bone marrow transplant is so far down the line for Hannah.  Not only would the Cerezyme treatments not have to work, but the Zavesca/miglustat (second type of treatment for Gaucher’s Disease) would not have to work.  Even then, bone marrow transplants haven’t proven routinely successful with Gaucher’s Disease.   I don’t know why Dr. G. wanted us to go see him Dr. K. so soon, even before we started the Cerezyme.  So my husband and I decided we will meet with him IF we need to at a later time.

As for JFS, we are still very interested in working with them and seeing what they have to offer.  But the truth is, I’m overloaded right now.  We don’t know what we are dealing with for Hannah yet (type 1 or type 3), so it is really hard to talk about what kind of services, if any, we would require.  I’m so thankful that they are there, and I do plan to visit with them after meeting with Dr. S., the Gaucher’s expert.  Hopefully by then we will have some more direction.

I need your help.  Yes, you.   Whether you are a regular visitor or just happened to visit my site for the first time, I need you.

I’m on a mission to find and compile all blogs and up-to-date websites of children with rare diseases (or adults who were diagnosed as children).  There are over 6000 rare diseases affecting children in the world, and I can’t do this by myself.  I’ve been looking, and I’ve only found less than a dozen blogs (see my special kids links on my sidebar), and I know there are more parents like me out there.  

Basically, I want to create a directory/blogroll (or whatever you want to call it) that links all these special children together to be unveiled on February 28th, the 2nd annual World Rare Disease Day.   You can either leave them in the comments below or send me an email. 

If you have a blog, please post this request and help me out.   You can even have your visitors email/post the links on your site and you can email them to me. I’m not looking for more traffic with this project.

And if you use StumbleUpon, Digg, Facebook, etc. please click below to share this request!