We have been working on weaning Hannah off the Haldol for the past 10 days or so.  We have no removed her afternoon and morning doses, as per the neuro’s schedule, and next Friday she will be completely off it.  We have definitely noticed some effects so far, but are not sure if it is the lack of Haldol or the withdrawal from Haldol that is causing these issues.

She has been more, well, just not herself.  Not really cranky as much as just not happy, I guess.  Her sleep schedule is really messed up as well, as she is more restless than usual.  Hopefully once the Haldol is completely out of her system, we can get an idea of how she really is doing.

We did our holiday photos tonight as well.   It was a lot tougher than we had anticipated with Hannah.  Even though she was willing and happy, it was hard keeping her movements under control enough to keep her seated long enough for me to take the many, many pics.  Abby and Ethan were absolutely amazing with her and so patient.  They helped by holding her hands and arms in a way that you think they are just being loving and not helping hold her steady.

One thing Daddy and I both noticed was that in all of Hannah’s pics, her eyes were mostly crossed (strabismus).  I guess we don’t see as much in person, but when it is staring at you in multiple pictures, it feels like a knife through the heart.  The most visible symptom of Gaucher’s disease type 2 — the fixed crossed eyes.  Hannah does have it most of the time now.  Sucks.

This on top of the news that Hannah’s soul sister, Olivia, and Addy are going through incredibly difficult times now.  They both have Gaucher type 2.   I mean, we aren’t talking just rough and inconvenient situations.  Really, really tough and heartbreaking times.   I find myself constantly thinking about them.  It hurts, it really hurts and makes me very upset.   Even Daddy has been feeling the stress of their situations, and it has affected him as well.

The thing is, when I think about Olivia and Addy and their situation, I always find myself putting ourselves in that situation as that could be us with Hannah at some point.   Sooner than later, as we see how this disease is taking hold of her.

Daddy and I have had quite a few “reality check” conversations the past few days about Hannah’s condition.  Conversations parents should not have to have about their toddler children.  You know, in one respect, I feel very lucky that he and I can openly talk about what we are thinking and can share with each other, even when the conversations are ugly and scary.   But I hate, hate, hate that we are having to have these conversations, the “what happens if? what do we do if?  how do we handle blank if?”

And the worst question that kept pounding my brain — “What is next year’s family holiday picture going to look like?”

Yesterday Hannah had her Early Intervention Insight team evaluation.  Basically, it was a chance to have Hannah evaluated by a vision therapist and an adaptive technologies therapist.  They spent about 90 minutes with Hannah (who was actually awake for most of it), and we learned quite a bit already by working with them just during that period.

They did their overall assessment of Hannah’s development.  You know, I really used to dread those evaluations, but now it doesn’t seem to phase me ‘as much’ anymore.  She tested at the 12-month age level for most everything with a couple of scattered 12-18 month areas, and one 1-4 month area (yes, that is not a typo!).  I will admit that 1-4 month age development level (I even forgot what it was in) took my by surprise.

But to me those are just numbers at this point.  As I keep telling everyone, my goal is to keep her happy, pain-free, and to learn as much as she can and is willing to.   I want to keep pushing her to try new things, to learn new skills, but if they take two weeks, two years, or never happen to come, that is okay too.  We just got to keep trying — and she doesn’t seem to mind it, so why not?

We found out that Hannah really gravitates towards the red and yellow items.  We always knew about the yellow, but the red was a surprise.  She also really likes lightweight shiny metallic objects!   The vision therapist brought out some metal bowls, mixer blades (or whatever they are called), measuring spoons, and some metallic colorful sponges we had bought for her sensory bin.  She LOVED it!

The AT (adaptive technology) therapist was VERY excited that we had the iPad for her.  A lot of the therapy she is going to recommend over the next year as well as when she transitions into school is apparently going to be based on using it, especially the communicative side of things.

She brought us a big red button.  We are going to work with Hannah so that if she wants something (we are thinking the iPad because she is loving it) that she has to hit the red button, which then lets out a prerecorded “iPad”, and we give it to her.  Basically, start this way of communicating.

She also wants us to find apps that will allow us to only have maybe 2 or 4 picture choices on the screen instead of the 12 or 16 that we have found so far.  Because of Hannah’s movement disorder, it is so hard for her to isolate her hand to get to the picture she wants when there are so many in that vicinity (she usually presses 2 or 3 at a time accidentally).

This is definitely the beginning of Hannah’s transitioning into the school district in July when she turns 3.  The goal is to get her IFSP (individualized family service plan – EI) solidified and ready to go for the IEP (individualized education plan – school district)  meeting next month.  We are also meeting with the speech/feeding EI therapist in a couple of weeks, so that will be added to her plan as well.

I love the fact her therapists are so gung-ho about getting Hannah these wonderful services and especially feeling motivated to really make Hannah’s IEP unique to her needs instead of just the template special needs child.

But in the meantime, Hannah will always be my baby — whether she is at the 12-month level, 4-month level (in that one area), or if she progresses to the 18-month level…forever my baby, forever in my heart, forever making me smile.  And THAT is all that really matters to me.

Reprinted from the RareDiseaseBlogs.net:

The summer of 2010 saw remarkable activity related to the development of treatments for rare diseases. The U.S. Food and Drug Administration hosted a two-day public hearing for patient advocates, industry, academic researchers and others to voice their views on current procedures and possible ways to improve them.

The Senate HELP (Health, Education, Labor and Pensions) Committee also hosted a hearing, this one focused on rare pediatric diseases and how to accelerate the development of treatments for them.

New legislation introduced in the U.S. Congress this summer included two bills specifically related to rare diseases—one to remove a roadblock that might keep financially strapped patients from participating in clinical trials (the Improving Access to Clinical Trials Act), and the other to enhance incentives for development of drugs and biologics for children with rare diseases (the Creating Hope Act).

These events and actions might seem small and random to some, but I believe they may signal that orphan product development is approaching a “tipping point”—a point at which change becomes inevitable. And with rare diseases, where only about 200 of the nearly 7,000 known diseases have treatments, and many are not even being studied by researchers, change is a good thing.

Consider other current and upcoming events:

• A Rare and Neglected Diseases Caucus has just been launched in the U.S. Senate.

• FDA and NIH, with the help of NORD and Duke University, have created a Rare Disease Investigator Training Course to be offered for the first time in October. The course was “sold out” almost immediately after it was announced.

• NORD hosted focus groups of key stakeholders and found tremendous interest in rare disease research if appropriate ways could be identified to increase transparency and de-risk the process.

• FDA created an Assistant Director position to focus specifically on rare diseases in its Center for Drug Evaluation and Research.

• NORD in the U.S. and EURORDIS in Europe announced a partnership to encourage and facilitate global thinking among patients.

• Several “big Pharma” companies including Pfizer, Novartis and GSK have recently announced their intention to expand involvement in the rare disease space. While innovative small biotechnology companies should be applauded for all they have done to date, patients also welcome the interest of these larger pharmaceutical companies.

Malcolm Gladwell, who made “tipping point” a household word with his book (The Tipping Point: How Little Things Can Make a Big Difference) published 10 years ago, wrote that in any situation, 80 percent of the work will be done by 20 percent of the participants. These 20 percent, he wrote, are people with enormous gifts for communicating and inspiring.

They are also people who are driven by an overpowering sense of the importance and rightness of their cause. And that’s certainly true of those who are promoting progress in orphan product development on the scientific, advocacy, and regulatory fronts today.

I believe we may be approaching a tipping point in rare disease research and orphan product development. And, if that’s true, it’s wonderful news for the millions of people who have rare diseases for which there is currently no treatment.

This has a big few weeks with regards to transitions in my life, both on a personal level and a parental level.

Hannah’s good friend, Bertrand, graduated from Early Intervention today.  Such a huge, huge milestone.

Then I looked at my calendar.   January 14, 2011.  Transition meeting with Early Intervention and School District.   Wow, how did we get here so fast?   Hannah will be graduating from EI herself this July.  She will be THREE years old!

I think about when we started EI services.  Hannah was just 4 months old at that first meeting.   She didn’t even have an official diagnosis at that point yet.   This was the beginning of meeting so many wonderful therapists who came into Hannah’s life and have helped her excel to where she is today.

I go back and think about her original prognoses — 9 months, then 18 months.  I remember sitting with her EI coordinator back in Texas and having her mention this “transition meeting” in a year or so when she was 2-1/2, wondering in my heart if we would ever get to that point.   I never let myself believe we would be discussing transitioning her to the school district.

But we will be.  In just a few weeks.   We will be having that infamous meeting I had always hoped to have but was so fearful that I would never see — the aging out of Early Intervention.    Now we just have to find a way to keep her wonderful service coordinator in the picture after that — Hannah has grown quite attached to her!

We had our meeting with Dr Brown today, Hannah’s new neurologist.  This was a followup to the EEG done a couple of weeks ago.

It was definitely a “very abnormal EEG.”   But because it is mostly subclinical at this point (meaning, it is not showing visible seizure symptoms), we are not to get completely freaked out just yet.   It is likely progression from the disease, which is a known process.  But, at this point, we work to control her seizure disorder and lessen the amount of activity she is having subclinically.

So this is the plan.   Wean her off the Haldol (which not only decreases the seizure threshold but also may increase movement disorders instead of help them).  We are cutting her back from 3 times a day (0.125 mL at 2 mg/mL) to twice a day for a week, then once a day for a week, and then done.  As long as there are no worsening symptoms or anything like that, we are to follow up with her in 3 months and see where we are at.  If there are any issues, obviously, we will see her sooner.   Hannah will also get a Keppra level drawn next week to see if she is at therapeutic levels.

We then had the Genzyme dinner meeting this evening.  It was not what I expected, I have to admit.  I assumed that because it was at Dr. Bernstein’s office (Childrens Cancer and Blood Disorders) that we would meet other families who had children with lysosomal storage diseases.  But nope.  It was all adult patients, and Hannah was the only pediatric patient.  There were 3 Gaucher type 1 patients, quite a few Fabry patients, and I think 1 or 2 Pompe disease patients.

I have to admit that I felt out of place because the questions I wanted to ask Dr. Barranger and the Genzyme team were directly related to the neuronopathic form of the disease, obviously.   None of these patients could relate (well, maybe the Pompe patient, not sure).   There also was a time when Dr. Barranger made the comment to the group that “you will likely not die from these diseases” (Pompe, Fabry, Gaucher’s).  I was like — “Um, really?!”   My husband told me I was being too sensitive because Dr. Barranger was speaking to a group of people that all would “likely” survive their disease.  Hannah, unfortunately, likely will not — she was the only one.

The most positive thing I did get out of the meeting was being able to meet the local genzyme team, especially our case manager, whom I just adore!   One thing I can say about Genzyme …. since day 1, every single person I have been in contact with has been very caring, supportive, and understanding.  Even during the fiasco with the Cerezyme shortage, the people I came in contact with were all sympathetic, even when their hands were tied.

I did make one suggestion to the Genzyme team that I will definitely follow up and expand upon.  There needs to be a way for type 2 and 3 families to be able to have their own information meetings, contacts, etc.  There are not enough of us in these metro areas to have physical meetings, but I was thinking maybe every 6 months have a web conference where patients’ caretakers can ask questions of genzyme, experts, etc.

One of the local reps suggested I created a Yahoo mailing list — been there, done that — 2 years ago!  The problem is that unless someone is somewhat internet savvy looking for info, they will never find our mailing list.  We need to be proactive more than that.  So that will be one of my ‘things to do’ in 2011.

First and foremost though, getting this seizure disorder under control before it starts to manifest into something more dangerous, especially having clinical seizures.

Hannah, Ethan, and Abigail got an AMAZING holiday gift this year from my old (in years known, not age!) friends, Julie and Heather.  An iPad!   I so, so, so wanted to get one for Hannah because I have heard so many people talk about the amazing things children with special needs like Hannah can do with them.

It got off to a slow start with Hannah having no clue what to do with it at first, but here we are a week or so later, and she is really starting to get into it!   She has a few favorite apps that we have been working with, but nothing has been her favorite as much as this one.   She will play with it for 20 minutes or so at a time!  What is even better is that we can put some of her favorite music on at the same time (using the iPod feature), so that we can work to a beat or rhythm.

With Hannah’s movement disorder, this app has been wonderful for her.  It forces her to try and concentrate to get her hand where it needs to go, which is difficult because the object keeps moving.  But she absolutely loves it.  Especially when she gets the ‘reward’ of the animals popping up and cheering her on when she touches the iPad, even if she misses the sun!

There are a couple of other great apps that she really likes such as the Baby Piano Lite and the Sound Touch.

One benefit that we didn’t even think about until we got it was that we have something to help keep us busy when we are waiting 30 minutes or more for some of these doctor appointments!  At the neuro’s office before her EEG, we had a 45-minute wait, and so we “turned on” her Wiggles movie after about 15 minutes of waiting and being restless, and she was a happy camper 🙂

I apologize for the darkness of this video, but I only had my phone with me, and it was nighttime.  This was one of those “had to capture” moments watching Abby work with Hannah on her baby rattle sun game.  I love the HUGE grin on Hannah’s face during this video. Abby and Ethan are fantastic teachers with her and so patient!  Such a wonderful, wonderful gift in so many ways.