Brainstem dysfunction. 

This is the term that both Dr. Goker-Alpan and Dr. Schiffmann used to describe Hannah’s neuronopathic Gaucher symptoms.   For whatever reason, I didn’t flinch when we talked about her abnormal eye movements (supranuclear gaze palsy, ocular motor apraxia), her vocal cord paresis (weakness), or even her developmental delays. 

But for some reason, calling it “brainstem dysfunction” just seems like a permanent knife in the heart, you know?

Dr. Schiffmann wants to see Hannah back in 4 months, and we go back to the NIH right after that for an EEG to check for seizure activity (and other consultations).  Seizure activity on the EEG, even if we don’t see Hannah having seizures, seems to be the next thing to look for.  That and problems with her internal hearing (need to try and complete a BAER/ABR study). 

Brainstem dysfunction.

I got Dr. Goker-Alpan’s summary from Hannah’s visit to the NIH.

There was nothing in there that we didn’t already know from our meetings with them.  However, I was reading her overview of the suggestions regarding Hannah’s vocal cord paresis, developmental delays, and feeding issues, and I just got overwhelmed.  I’m not sure why.  All of a sudden it was like I couldn’t process any more information.  Meet with pulmonary, ENT, speech pathology, have them work with NIH’s OT/PT and speech pathology, many more therapies, etc… I couldn’t tell which way to go first! 

Some other moms have recommended part-time therapy day-care centers as a suggestion for Hannah, which would not only work with the therapy issues but the socialization as well.  However, Houston has no Easter Seals program, and ECI doesn’t seem to have a therapy work center either.  So I’m not sure what options, if any, we have here.

I take comfort in the fact that they recommend all these additional therapies because they feel very positively that Hannah would be receptive at this point to them.   Hannah needs a lot of help, a lot.  But they believe she will get there if we get the appropriate therapy routines.  I’m just not sure how the heck I am going to be able to do them all — or how SHE will be able to do them all.  I admit…I need help now.  I asked Dr. B., our pediatrician, for his assistance in getting everything in order.  

I have never felt like this.  I have always been right on top of things, many times before I was officially told.  But for whatever reason, I feel like my brain is turning to mush this week. 

Ironically, we meet with Dr. Schiffmann tomorrow up in Dallas for our 6-month review.  It will be very interesting to hear his thoughts on our NIH findings as well (which I will share tomorrow after the meeting!)

We learned a lot from that recent Texas Parent 2 Parent conference.  One of the most important things we took away from this conference was the needs to redo our will.   For us, a will is not only designed to choose who will parent our children in case we should pass away before they do, but it is designed to protect them financially as best we can.  Although I do admit, thinking about who would be the best parents for my kids if we couldn’t be their parents is so tough!

Nolo.com has some great information on what exactly a “special needs trust” is.  

Use a trust to leave money to a disabled loved one — without jeopardizing government benefits.

If you want to leave money or property upon your death to someone with a disability, you must plan carefully. Otherwise, you could jeopardize your loved one’s ability to receive Supplemental Security Income (SSI) and Medicaid benefits. By setting up a “special needs trust” in your will, you can avoid some of these problems.

Owning a house, a car, furnishings, and normal personal effects does not affect eligibility for SSI or Medicaid. But other assets, including cash in the bank, will disqualify your loved one from benefits. For example, if you leave your loved one $10,000 in cash, he or she won’t be able to get SSI or Medicaid.

How a Special Needs Trust Can Help

A way around losing eligibility for SSI or Medicaid is to create what’s called a “special needs trust” in your will or living trust. Instead of leaving property directly to your loved one, you leave it to the special needs trust.

You also choose someone to serve as trustee, who will have complete discretion over the trust property and will be in charge of spending money on your loved one’s behalf. Because your loved one will have no control over the money, SSI and Medicaid administrators will ignore the trust property for program eligibility purposes. The trust ends when it’s no longer needed — commonly, at the beneficiary’s death or when the trust funds have all been spent.

How Trust Funds Can Be Spent

The trustee can’t give money directly to your loved one — that could interfere with eligibility for SSI and Medicaid. But the trustee can spend trust assets to buy a wide variety of goods and services for your loved one. Special needs trust funds are commonly used to pay for personal care attendants, vacations, home furnishings, out-of-pocket medical and dental expenses, education, recreation, vehicles, and physical rehabilitation.

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…