A Devastating Blow

Daddy lost his job today. After four years with the company and only three months in this dream-job position, he was let go. He is our main source of income plus our insurance was under this job. Hannah’s livelihood and survival to this point has relied exclusively on the generosity of our insurance — the multiple private therapies, orthotics, her gait trainer (which we don’t have yet), procedures, doctors, etc.

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.

Time to get back to “work”

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…

Pop goes the Wiggles and Hannah goes Pop!

Hannah loves, loves, loves the Wiggles.  I mean, Sam Wiggle comes on, and she giggles and smiles like a little schoolgirl!   There is one part on her Pop go the Wiggles DVD that she absolutely loves more than any!  She gets wildly excited when she sees it.  LOL

Our busy week!

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!  

Texas Parent to Parent Conference coming up!

There is a yearly conference for families of children with special needs that is put on by Texas Parent 2 Parent up in Austin in a couple of weeks.  Even though much of the conference is dedicated to school-age children and autism/down syndrome, there still were a few great sessions that I thought would be very helpful for Daddy and I.  So, we signed our family up to go.

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”)!

Hannah’s Summary Update 4/19/09

Since I have so many visitors that want to follow Hannah’s journey with us but aren’t into the “blogging” thing since I do tend to post A LOT, I created an “update” page (you can also see it in red on the right as well as on the dropdown menu under “Meet Hannah”).  I’ll be updating this page every few weeks so you can just bookmark that page to get the latest on everything going on in one place.  Hope this helps!

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

Waiting on the warm weather…

It is kind of surreal being back in the house that I grew up with from the time I was 5 until the time I left for college (and for a brief stint after the Northridge earthquake of ’94 after I lost my apartment).  Even though I haven’t been here in one year, it always feels like I have never left, and you go right back into that same routine.

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!

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