This would give us about 5 weeks between the new house and having to move out of this house.   Probably a good thing with everything going on.

I am very excited to move forward and get a HOME.   We still have to go through the inspection process and everything, so I’m not getting too excited just yet…just in case.

The only bad thing that is upsetting is that the kids will no longer be in Vanderburg’s school zone.  Even though we are just two miles or so away, we are still zoned for another elementary school.   We thought about getting Ethan a voucher so he can finish up his elementary school at Vanderburg and let Abby go to the new school, but we then found out that they even may be different middle schools so we would rather Ethan do his 5th grade with kids he will be going to middle school with (and may possibly be neighbors with).

After everything Vanderburg did for our family, I feel like I am letting them down in a way.  Stupid, I know.  But they just offered to make World Rare Disease Day events a yearly thing, and now here we are moving out of the school.

But then I remind myself that we will finally have a home, have roots, and maybe finally feel settled.   That is priceless.

We are devastated. Our income is now based solely on my menial part-time job, which in no way could support our family, not even close. He is going to apply for unemployment tomorrow, but everyone knows that won’t even come near to what he was making. Hopefully Hannah’s medicaid will come in within the next month or so, but still —-

I don’t know what we are going to do.

My beautiful sleeping girl

Ethan and Abigail start school in two weeks.  Yay!  This year is going to be a very interesting one because Abigail will be starting Kindergarten at “her brother’s school,” and Ethan will be going into third grade (of which he is taking the gifted and talented math and science courses). 

I am so ready for school to start.  Mostly, I am ready to get into a routine.  We have been so out of a routine this summer, and it has really thrown me for a loop into chaos.  I have had such a problem getting things in order!

But I do have a list of things that I have to get settled and started very soon (that relate to Hannah and me, not the other kids):

1. Finalize initial appointments with Cardiology (pending), the new ENT (8/31), and Pulmonology (pending).
2. Followup with all the researchers I have contacted in the past six months to see where things stand
3. Work on finding a way to get the Parkinson’s community to realize that our nGD kids can possibly offer some insight into PD – anyone know how to get a message to Michael J. Fox?
4. Start my special education teachers credential that I was midway through when I found out I was pregnant with Hannah (classes M/W nights and Saturday)
5. Start looking into a workable therapy schedule to be able to fit PT x1, OT x2, ST x1, DT x1, and Vision therapy x1 each week.
6. Work with the National Gaucher Foundation, Genzyme, Children’s Gaucher Research Fund, and other groups to see if there is something we can do to further research and awareness.
7. Start looking into getting Hannah into a social type of playgroup so that she can get experience around other children.
8. Get more involved with TheProjectCharity.org, 5minutesforspecialneeds.com, and other rare disease and special needs outlets.
9. Figure out how to be a better housewife by learning to schedule laundry, cleaning, and menu planning for dinners.
10. *** Start working on a fundraiser to start raising $$$ to be able to hire researchers to work on finding a cure!

The list looks pretty daunting, but just writing it down is the first step.   I know there is probably more that I am missing, but once I figure out how to start organizing my life then I can hopefully just plug it in.

Wow, where to start…

Nicole, Greyson's Mom, and Hannah

We made it through our first week of summer with Abigail home and Ethan at camp.  We survived!  And it really wasn’t so bad.  One week down, many to go!

We have a lot going on this week:

Monday:  Cerezyme treatment, all day
Wednesday:  Physical therapy at TCH
Thursday:  Orthotics fitting, Occupational therapy at TCH
Friday:  Pediatrician visit, Developmental therapy at home
Sunday:  Father’s Day and tentative Greyson’s Law Celebration (about 3-hour drive from home!)

Tomorrow should be interesting.  Abby is home tomorrow, so she is going to come downtown with Hannah and I to the hospital.  Daddy is going to meet us there (since he works 5 minutes away), and he is going to take Abby to lunch and to his office for an hour or so.  Then, he is going to bring her back to the hospital towards the end of the infusion, and then I’m going take both Abigail and Hannah home. 

Abby is SO excited to visit “Daddy’s work.”  What is it about a child visiting their daddy’s work that always seems so exciting to them?  I remember visiting my parents work when I was little, and it was always such an awesome feeling being able to go into this whole new world.  She is so looking forward to it!

I just hope Hannah’s treatment begins on time tomorrow, because I am not looking forward to having to deal with Abigail while being tied down to an infusion chair with Hannah for more time than necessary!  

Ethan and Abigail will be in their child care program that day, which will be good exposure because there will be lots of siblings of kids with special needs plus special needs children as well.  So, for as much as this conference is for us as parents, I think it will be wonderful for our kids as well.  Hannah will be staying with us, and if she is “active” during one of those sessions, either Daddy and I are going to sit that session out since we are both signed up for the same sessions.

I’m looking forward to it.  I think it will be a great experience for all of us (especially the Friday night “family gathering”)!

You can get email notification of these updates by going here.

Where we are at now…
(as of 4/19/2009)

Hannah’s Health
Hannah just recently had her almost 9-month checkup, and things seem pretty stable right now for the past month, yay!  Her abnormal eye movements (lack of saccadic movements, supranuclear gaze palsy, etc.) do not seem to have gotten worse, or she has found a way to adjust to this situation.  She is still growing like a weed, and she is 18 lb 7 oz and 27 inches long.

Developmentally, she is still testing delayed in physical (testing at 4 months of lage), adaptive behavior (testing at 5 months of age), and communication (testing at 6 months of age).  Not surprisingly, she is testing at the 8-month level for cognitive ability and at the 11-month level for socio-emotional behaviors.  

She does have some feeding issues where she does not know how to use her tongue to eat solids (which is a neurological feature of her disease), which has caused some feeding issues.  So, we are going to be meeting with a speech therapist to see if she can evaluate Hannah and work with us on teaching her how to use her tongue correctly to eat.

She had a swallow study last week (where we found out about the tongue issue).  We were worried about swallowing difficulties because that is one of the next symptoms we are to look for.  Fortunately, her swallow study came back normal, and we were able to prove that she is swallowing correctly and not aspirating fluid or food into her airway!

She does have fluid in her ears (clear, not infected), so we have to go back and see her ENT doctor.  Just like her sister!  (However, if we have to go the ear-tube route, we have a major obstacle to deal with – sedation).

Disease Update
We received the DNA sequencing back, and surprise, surprise!  In the entire registry of Gaucher’s Disease (over 6600 patients of which 95% are type 1), there has never been her combination of Gaucher’s mutation before!  There is nothing in the literature about this combination (84gg, the most severe type 1 — D409H, one of the most severe type 3), so they have no idea what to expect.  So at this point, we still don’t know if it is type 2 or type 3, because as I was told, this doesn’t automatically make it type 3 because “just like mixing mayo and mustard, you create a whole new type of mix, not two separate flavors.”

Upcoming
Hannah has a neuroopthalmology appointment next week along with her bi-weekly Cerezyme treatments (which she handles like a pro!).  We are now 2-1/2 months into her Cerezyme treatments, so hopefully within the next 6 to 8 months, we can get an official update from her genetics doctor as to whether or not the Cerezyme treatment is affecting her Gaucher’s Disease.

She has developmental therapy once a week with Early Childhood Intervention and occupational therapy every other week.  Speech therapy is also going to be thrown into the mix very soon.

We are in talks with the National Institute of Health to have them sponsor us for a visit their facility next month (they cover all expenses).  Since they have never seen this combination before, they are interested in evaluating Hannah in hopes of learning more about this disease and hopefully find a treatment.  It is exciting in the fact that these are the absolute experts in this disease. 

Treatment or Cure?
Unfortunately, nothing even close yet.  I’m still scouring all the latest news regarding companies working on various aspects of this disease, and I have about 6 or 7 leads.  But nothing that will have anything available within the next year or so.  All these people that are working on GD2 and GD3 need money. 

There has been a definite link established between Gaucher’s Disease and Parkinson’s disease, so I want to learn more about this in hopes of securing funding to explore this more.

How we are doing?
We are doing good.  Stressed, tired, and overwhelmed.  But we have a sense of the ability to slow down just a bit since the results of the swallow study knowing that the disease hasn’t progressed to her swallowing yet. 

We need money though.  We need money for research to save her.  There are scientists out there “on hold” or going on a “slow pace” because there is no money for their projects, and that just kills me!!!   There has GOT to be a way to raise money for this!!!  My first goal was to raise $10,000 by Hannah’s first birthday (July 25th), and we are only 1/3 of the way there. 

We eventually need BIGGER money, but all those who have donated $10, $25, $100, etc., THANK YOU!  I definitely adds up!!  If you can help us by hosting a fundraiser in your area (Chic-Fil-A did a very successful one for us, plus we had good friends ask for donations for Hannah’s fight instead of gifts for their son).  We really need all the help we can get

Our visit so far has been a good one, with the expected hiccups along the way.  Ethan broke his glasses two days before we were to leave, but he didn’t tell us until I just happened to notice the tape on the side during the fundraiser the night before.  So, we were able to go to a one-day place, and we bought him a new pair of glasses here.  

Abigail was really cute last night at the Seder.  I think she developed a little crush on my 20-year-old cousin.  She would not leave him alone!  It was adorable.  She even said that he was “cuter” than her “boyfriend” in preschool.  Where does a 5-year-old pick up on this stuff?

Hannah hasn’t been herself yet.  I miss my happy-little-baby.  I think the combination of having a cold, an ear infection, jet lag, many new people in three days, and not being at home in her routine has gotten to her.  With the exception of me and Daddy (and our kids), she just doesn’t want anyone to hold her or even play with her unless we are around.  I think she has cried more in the past three days than she has since she was born!

Today is a mellow day, which is good.  I have to run to the store to pick up an outfit for the easter egg hunt at my parent’s golf club for tomorrow.  I knew there was a dress code, and I got everything for the kids, but I totally forgot to bring something for me.  I guess jeans are a no-no there. 

I have been neglecting my emails, on purpose, as I am trying to not be so focused on “my mission.”  But I do wish I could spend at least an hour or so just reading everything that has come in!

Abigail’s ears still look “miserable,” which I knew, so we will likely be having a third tube surgery some time soon.  Also, he wants us to get Abigail an abdominal xray when we get back because he thinks she may have encopresis.  It all fits, as she has been complaining about “hard poopies” for the past few weeks and she has had some accidents, even just minutes after we ask her if she needs to go potty.  So we may be adding some Miralax to her diet.

Our pediatrician also did a quick physical check on Hannah and noticed that she is starting to develop fluid behind her ears again.  If this turns into a full-blown ear infection, that will be what, the second one in as many months?  She has had a runny nose for the past few days, and if it continues for a couple more days or if she gets a fever or tugs at her ears, he gave us a prescription for antibiotics that we can use while we are in CA.  He checked out her spleen and liver, but for the first time, she was pretty uncooperative, as she wasn’t feeling very good.  I didn’t get the impression there was any change in the size, however.

So, in the middle of all Hannah’s multitude of tests, we have to add Abigail’s ear tube surgery plus her abdominal xray to this mix.  Boy, our insurance company is going to be busy for the next couple of months with u!

During Hannah’s 2-hour Cerezyme treatment, I fell asleep for almost an hour of it.  I remember watching TV with her sleeping on me and the drape half-open around our area.   I woke up to a totally different show on the same channel and the drape wrapped completed around our area.  I hope I didn’t snore!  LOL  (Hannah did great at her treatment – slept through all of it!)

Last night I slept for over 5 hours straight.  The monitor didn’t go off once.  Yay!

Tonight, I am giving myself just one more hour to go through emails and get some stuff done and ready for the Chic-Fil-A fundraiser tomorrow.  I have NO idea what to expect or what I am supposed to do.  I am so thankful for my neighbor who set this up and to all my friends and neighbors who have volunteered to help and get the word out. 

36 hours until we leave to visit my folks and extended family in SoCal.  It has been a year since we have been back there, and it will be the first time almost all of them have met Hannah (except my folks who came here right after she was born).