This could be HUGE!!!  I’m waiting to hear back from Genzyme to get more details — Cerezyme, Genzyme’s product, delivered to the brain!  That could be what we have been waiting for!!!!

http://www.genengnews.com/news/bnitem.aspx?name=67331403
 
Nov 3 2009, 11:02 AM EST

Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
GEN News Highlights

Genzyme and Netherlands-based to-BBB established a research collaboration to evaluate the use of the latter’s G-Technology™ to transport biologics against neurodegenerative diseases across the blood brain barrier (BBB).

G-Technology has been developed to transport different classes of drugs directly across this barrier using glutathione-coated liposomes. The company’s research partnership with Genzyme follows on from a similar agreement with MedImmune, signed in September.
Liposomal formulation allows the encapsulation of a wide range of compounds and biological molecules without changing their function and protecting them against degradation and immune responses, according to to-BBB. Coating liposomes with PEG further ensures a prolonged circulation time in plasma. Conjugation of glutathione to the tips of the PEG molecules targets the liposomes toward the active glutathione transporters on the blood-brain barrier, the firm explains.

to-BBB’s lead in-house project is 2B3-101, a G-Technology formulated doxorubicin, currently in preclinical development.  A Phase I/II trial is expected to start during the second half of 2010. Additional preclinical-stage in-house projects are ongoing in diseases including Alzheimer’s and lysosomal storage diseases.

 

It has been a rough couple of months.  I still feel like we aren’t anywhere close to being settled in this new “special needs parenting” life.  I guess it is a process, a journey, and not a quick sprint to a destination. 

Along the way, I have seen the “real” in people in my life.  I look at people like my brother-in-law and sister-in-law and am just so blessed to have them fight so hard for us and for our family since day one and on so many levels.  There are people in my life that I just expected would be here fighting with us, helping us, but they have all but disappeared.   It makes me mad, sad, and just totally confused. 

But I can’t change what I can’t control.  It all goes back to “it is what it is.” 

My life is just so not what I expected it to be.   I can’t say that I have regrets because Hannah is just so damn worth every trial, worry, and change.   But I do wish that things could be easier or just even more calm and in order. 

It is one thing to raise a chronically-ill child, I think.  You know what you are dealing with, and you have to learn to accept it and find a way to live your life that certain way.   When you are raising a child with a disease like Neuronopathic Gaucher’s disease, especially a variant like Hannah’s that is a “puzzle” to the doctors, you just don’t know which way is up some times.   Having a disease that you know is going to take her away from us at some point just, well, you never feel like you settle into a way of life.

I’m having a hard time dealing with things lately, this lack of order and sense.   I’ve been trying to find a job that will give me the flexibility to be able to take care of Hannah during the day as well as the other kids when they get home from school.  I’m hoping that my old MT company will bring me on part-time, but if they do, my weekends and evenings are gone.  But what choice do I have? 

It has been really slow going getting Hannah on to the medically dependant children’s program (MDCP) here in Texas.  We are now in the waiting stages to plan our 24-hour stay at a nursing home, but we are waiting on our case manager to get the paperwork in order.  We have already been approved for the program.  Once we complete our stay, Hannah is eligible for Medicaid (instead of waiting 6+ years) as well as getting money for respite care.

The respite care has been something that I have started to look into as well.  We know how much money Hannah has qualified for, and I feel very fortunate that it will be able to provide us at least 20+ hours a week of care.  We need to use at least 80% of it or we lose it (I don’t know the exact number).  Hannah is so dang attached to me these days that it is going to be a gradual process, a very slowgoing one at that.  I’m hoping to find someone like an occupational therapist or special needs preschool type teacher to provide respite.  Hannah needs a lot of time spent with her working on simple task because it can take doing something very simple over a hundred repetitions before she picks it up.  I like the fact we can choose who our respite caretaker is going to be!

Hannah also starts hydrotherapy tomorrow.  I know how wonderful it will be for her, but I just have a bad feeling in my gut that she is just not going to want to do it.  Even though she loves bath time, I also know that she seems to cry quite a bit because it is with her current OT, and she refuses to go to her without crying hysterically.  Granted, Hannah cries hysterically when she goes to anyone else but me or Daddy.  Well, she will go to Jenny, her developmental therapist, but that has been a 11-month once-a-week relationship that has been built. 

We have her 12-month ECI evaluation next week.  I’m kind of dreading it because I know that Hannah’s development in the five primary early intervention areas has dropped off quite a bit in the past four to six months.   She is falling farther and farther behind, and it is just so hard to see that chart.  It is just a slap-in-the-face reality check of this disease. 

Even with as well as Hannah is doing with her medically being “stable” in terms of her symptoms, her brain is still being destroyed slowly – cognitively, behaviorly, and developmentally.  She is trying so damn hard, but every single breath and movement is such a chore for her because of the brain disease and her hypotonia.  It shouldn’t have to be this way.  She doesn’t deserve this.

But gosh, if you could see the smile on her face.  OMG, she smiles so much and is so happy.  She has no idea what is going on with her.  All she wants is me.  Pure love, right there.   With all the delays and physical issues, her smile and the thrill in her face when she sees me – it is truly priceless.   I wish everyone could be enveloped by this smile — she could change the world with her sweet grin.

Talk about a rambling post.  My brain is much like this post.  Rambling, trying to figure out where I am at, wishing that my life could be more in order instead of just living for that moment and getting through to the end of the day.  I know there are other special needs families that seem to have their lives under control, even with all the medical-related issues.  Why can’t I seem to get it together?

I realized tonight that I haven’t posted in a week or so. 

There is a lot of stuff going on, but it mostly is just still trying to get into a routine with all her therapies, doctor visits, and the rest of our family life. 

• We meet with Dr. Roy, the otolaryngologist, next week to reevaluate her vocal cord weakness and laryngomalacia.
• Met with Dr. B., the pediatrician, yesterday.  Hannah is pretty much stable for the past two months with everything she has going on plus she gained 1 lb and 4 oz and almost an inch in the past two months.  The one thing that still resonates in my head is that he considers Hannah’s developmental progress “slow.”  Yeah, I know it is slow…
• We are going to start planning our NIH trip in the next couple of weeks.  I can’t believe it is time already!
• I have to get Hannah setup for her overnight nursing home stay so that she will qualify for the Medically Dependant Children’s Program here in Texas instead of waiting on the 9-year waiting list.  Kind of makes me uneasy, but we have no choice if we want to get services now.
• We meet with GI next month as well to reevaluate her reflux plus we have an appointment wtih Dr. Schiffmann up in Dallas in early December.

Time is sure flying by!

What we have known for a few months has finally started hitting the mainstream media now as well as some other medical sites.  There are just a few….

Question is, now how can we capitalize on this and get the Parkinson’s community to start paying attention to our Gaucher kids?

Gaucher disease linked to Parkinson’s – Los Angeles Times
Mutant Gene Raises Risk of Parkinson’s (WebMD)
Glucocerebrosidase Mutations in Parkinson’s Disease  New England Journal of Medicine (subscription)
Study Conclusively Ties Rare Disease Gene To Parkinson’s – Medical News Today

We met with the ECI speech therapist.  Jenny, our developmental therapist and Hannah’s biggest supporter, came to the meeting as well.

After Jenny and I answered the STs questions about where Hannah is out now, I realized that she doesn’t have the cognitive skills for real communication yet.  She really is only at a 6- to 9-month level still.   She really doesn’t even pass the NIH’s speech and language development milestones for 6- to 11-month olds as you can see below.

• She doesn’t understand “no” yet.
• She can’t babble “ma ma” or “da da” yet.  She only babbles “ga” and “aga.”  We lost “da da da da” (not referring to daddy, just the sound).
• She doesn’t try to communicate with us for the most part, except for a wail when she is upset.
• She doesn’t try to repeat our sounds because she doesn’t have the ability or knowledge of immitation (something we apparently take for granted!)

The lack of the ability to imitate has been our biggest obstacle to overcome.  You don’t realize how much children learn by imitating people, sounds, things, etc.  Hannah has to be taught everything, and that is repetition dozens and sometimes hundreds of times.  But she is able to learn still, it is just a complicated and difficult process. 

So the speech therapy, Jenny, and I decided that we are going to try and start Hannah on sign language at this point.  Simple signs like “more,” “all done,” and “food/hungry.”  Until Hannah has the basic skills for communication at a 12-month-old level, she really wouldn’t benefit from speech therapy as much, especially since we have occupational therapy twice a week working on feeding and other issues.  So we are, for now, just going to have monthly consultations with our speech therapist to see where we are at, monitor Hannah’s progress, and continue to give us suggestions.  She will also be working with Jenny directly, so Jenny is going to be working with us on her weekly visits on that as well.

Hannah is just learning “cause and effect”, just during these past couple of weeks.  This is a huge milestone for us, as it is the very beginning of the communication path.  

Once Hannah becomes more communicative and understands communication better, then we will go to weekly speech therapy visits. 

Hannah is almost 15 months old.  I keep forgetting how delayed she really is until someone points it out to me or I see other kids her age doing things so much more advanced than she is.

I just keep reminding myself that I have to be patient.

Hannah had her fourth Gaucher marker bloodwork done a few weeks ago before her Cerezyme treatment.  We have been seeing definite improvement in her Gaucher biomarkers, and now that we are 9 months into Cerezyme treatments, I got the following email from her genetics doctor:

Gaucher monitoring results from Sept 2009 were good and improved from May 2009.  All three showed reduction from May (the trend we want to see) and two of three (angiotensin and chito) are now in normal range.  Since Hannah has shown good response with regard to these markers, we do not need to monitor so frequently. 

Normal range!!  Two of the three are in the normal range!!  They were between 8 to 20 times the normal value when we started 9 months ago!!!   I’m so thrilled to see such a great improvement, especially since her dosage hasn’t been raised since we started (it is based on weight).  I can’t wait to see what her liver and spleen are measured at next week when we see Dr. B., her pediatrician. 

THIS is great news!   If only the Cerezyme crossed the blood-brain barrier…