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.

This has been an incredibly busy week for me and Hannah.  So much so that when I realized tomorrow was actually Thursday already, it took me by surprise!

Monday, she had her Cerezyme treatment.  Slept the entire 2-1/2 hours.  It was actually kind of worrisome towards the end because she was so exhausted that she did not even wake up when nurse Mary took out her IV.   We also got to see Dr. Bernstein, Hannah’s local specialist, so that was a treat as well.  He is one of the very few docs here that I absolutely feel confident with here in Vegas (a rare feeling, I tell ya!)

Tuesday was her physical therapy with her new PT, Tracy.  This was our second visit with her, and Hannah really feels comfy with her.  Such a relief!  She spent 15 minutes on the swing with her, sitting criss-cross applesauce, balancing her core.  No complaints whatsoever!  What I would give to get a swing in the house like that LOL (not possible in this house).  Then she sat criss-cross again in front of Tracy while working with different toys.  Check out the video below — this was their FIRST meeting last week, I have never seen Hannah so relaxed with a new therapist!

I got a lot out of just our two sessions with Tracy so far.  1]  I need to find a very low bench that Hannah can sit non-W style with toys in front of her.  Something like this.  Of course, there is no way I would spend that much money on a little bench, but it should be so easy to make.  Just some wood, covered with foam and then vinyl padding.  So I told Daddy he has a project for the new year.  Do the wood frame, and I can do the rest!

Also, I need to focus on getting Hannah toys that force her to get either up on her knees (like a meercat), stand (with assistance) or can be played with criss-cross legs, such as this one (which her nurse told me NOT to get because that is what she wants to get Hannah for Christmas).

Wednesday was a two-fer doctor day.  We met with our pediatrician in the morning.   I really, really like her.  (She is not like our beloved Doctor B from Texas, but I don’t know if we will ever find anyone like him.)   We talked about the seizures, her throwing-up mucous and/or saliva, therapy equipment, meds, etc.  Basically got caught up for the past two months.   We talked about how her ENT, pulmo, nor her GI doc would take the lead on this throwing up issue.

Hannah has all the signs of allergies (swollen red nose inside, ears, etc.).  So she wants us to add Nasonex to our daily regimen to see if that helps control the post-nasal drip.  Both her and Hannah’s nurses think that is what she has been swallowing so much of and that is what she is throwing up (it is always clear, rarely ever formula in it).

We also talked about getting Hannah a therapeutic toddler chair because she needs the support of arms, back, etc.    She gave us a prescription for the Rifton Toddler Chair, but we will see if our insurance or Medicaid will actually cover it.  With what she needs with this chair adaptive-wise, it is a $500 chair!  (It is crazy how much special needs equipment is).  Hannah also needs a full-support chair for the dinner table now because she is too big for her high chair, but instead of spending $300 on it, we are going to purchase a car seat with a 5-point harness and just attach it to the chair.

This afternoon we met with Dr. John Barranger.  He is one of the members of the National Gaucher Foundation board and a special in Gaucher and other lysosomal storage diseases.  He was in town to meet with some of Dr. Bernstein’s LSD families, so it was treat to meet with him.  Also, our case managers from Genzyme were there, and it was great being able to introduce them to my little miss Hannah!   One of them looked just like my dad’s Aunt many years ago, and I had to do a double-take!  It was a very busy place in that little exam room, as it was Dr. Bernstein, Dr. Barranger, Hannah’s nurse, Nurse Mary (from Dr. Bernstein’s office), the two genzyme reps, and two or three residents shadowing Dr. Bernstein.  Needless to say, Hannah was NOT impressed whatsoever! LOL

Dr. Barranger didn’t really give me any new info, but I didn’t expect him too.    He talked about Hannah being on the 2/3 spectrum, and that she definitely did not show signs of being a classic type 2 (no spasticity, no arching, etc.).    He talked to us about having to ‘prepare for the reality’ of Hannah’s disease, which I’m not sure he realizes that we are very realistic in her situation (even the docs at the NIH commented on it during our last visit), apparently more so than most families he comes across.  I told him what I tell everyone — our goal is to keep her happy and pain-free for as long as she is with us.   But overall, it was a great visit.  Such a caring doctor, nice man.

We get to see him again on Friday night for a dinner Genzyme is hosting at Dr. Bernstein’s office.    I am looking forward to it as it will be nice to meet other LSD families (hopefully!) and talk with Hannah’s case manager, Fran, who has been such a huge help getting us settled in Vegas so quickly!

Thursday, we have OT.  Haven’t had as much luck for the past few weeks with that, but try, try again!  We also have a meeting with our nursing case manager tomorrow at the house to recertify us because of our insurance changes.

Friday is the big day.  We meet with our neurologist at 10 am to come up with a game plan to battle these seizures.   Dr. Barranger talked about it also being probable progression of her disease, but that in some cases, it can be controlled enough to not affect her daily life so much.  Keeping our fingers crossed because that is our goal!   We also have Hannah’s EI therapist coming to our house, which I know Hannah will enjoy.

Phew, I’m just tired thinking about it!  No wonder I crashed at 8 pm tonight (and woke up at 1 am for my ‘night shift.’

Here is the video of Hannah and her new PT on their first day, first few minutes.  Hannah was just loving the swing.  Usually she stiffens up when she feels unsupported, but she relaxed within minutes here! It is only about 20 seconds long, but just seeing how comfy here was amazing!

Technically, it is Thanksgiving day.

I have to admit that I have been pretty shaken up by this whole “lots of seizures” thing.  Especially when I was looking through my three cellphone photos of the EEG and found one that was completely filled with seizure activity for that period not just a quick blip.

Last night, Hannah woke up around 2 am and stayed awake until about 4 am.  Now, I know it wasn’t her movement disorder that woke her up, it was the constant twitching from the seizures.  The worst part was when I finally got her back into sleep mode and she was laying in my arms, she was dozing off and she started the muscle twitches again.

I wanted to cry.  My baby girl was having seizures right then and there…in my arms.  There was nothing I could do to stop it.  Then I felt so incredibly bad for her.  I can’t imagine what it must feel like?  Does she feel them?  I hope she isn’t in any pain or anything.

Then I started feeling guilty for doing this to her.   I mean, seriously guilty.    Probably moreso than I ever have before.

I walked downstairs after I woke up this morning and saw Hannah playing with her nurse.  I felt that overwhelming guilt again and just had to cradle her up and smother her with kisses.  She grinned hugely, and she melted my heart like she has done so many times.

December 3rd can’t get here soon enough when we see her neuro regarding the results.  I only pray that we can get these seizures under control somehow.  Perhaps we have been medically concentrating on her movement disorder so much that we have been focusing too much in the wrong place?    But then again both Klonopin and Keppra help control seizures.  However, Haldol decreases the seizure threshold.  Have we been playing seizure tug-of-war with her meds?

I know, feeling guilty isn’t healthy.  But the last thing I want is for Hannah to suffer in any way whatsoever.  Delays are fine, she has already compensated with her eye movements, and she has gotten used to her Gtube and Trach.  But with those she is not physically suffering.

Seizures are another story.  Put things into a whole new perspective now.  I have actually found myself scared that I am going to lose her sooner than later.  I haven’t felt this way since this summer when she was hospitalized.   But now I can’t seem to shake this fear.