Archives for March 2009

Here is all the latest research updates that pertain to GD23.  This was compiled by Dr. Raphael Schiffmann (world-renowned GD23 expert and Hannah’s neurologist) and Greg Marces, founder of the Children’s Gaucher Research Fund.   Unfortunately, these type of updates only come every 6 months.  This is why we need money for research — there is hardly any research being done on GD23, and we need to make sure those that do have the money they need!  (So if you can donate anything, please click the paypal button on the left).

Dr. Anthony Futerman

Realistically, the best (and I think almost the only) research on the mechanism of neuronopathic Gaucher disease is done by the laboratory of Professor Futerman. A few years ago his laboratory found that the lipid (fatty material) that accumulates in Gaucher disease causes an abnormality of a specific protein that controls the movement of calcium ions in the cell. It is likely that this abnormality is at least in part responsible for the death or malfunction of nerve cells in the brain, particularly in type 2 Gaucher patients.

Recently Dr. Futerman’s laboratory found that a protein that is involved in Parkinson disease is also abnormal in brain cells (neurons and support cells called astrocytes) of Gaucher patients and that this problem is directly related to the storage of Gaucher lipid in those cells. These results demonstrate how Gaucher may be a risk factor for Parkinson disease. Other abnormalities in lipid and protein were discovered in Dr. Futerman’s laboratory over the last year that will further shed light on the consequences of the genetic defect in Gaucher disease. These finding will are also likely to lead to new forms of therapy for neuronopathic Gaucher disease.

Another important research direction is the creation of a new mouse model for Gaucher disease in the brain. This mouse model will be unique because it will allow the regulation of the amount of glucocerebrosidase (the enzyme that is deficient in Gaucher disease) in the brain of the mouse by feeding the mouse with various doses of a medication called tetracycline. The higher the dose of tetracycline, the lower is the enzyme activity in the brain of the mouse. This way the mouse should develop Gaucher disease in the brain that is likely similar to the one that humans develop. Furthermore, stopping feeding the mouse tetracycline will also the ‘correction’ of the enzyme defect at any time. This can be a way to test the effect of therapies on the mouse brain at different stages of the disease.

Other research on neuronopathic Gaucher disease is done in Germany where a group is looking at the role of a different form of glucocerebrosidase that is not lysosomal. This group is trying to see if this other enzyme can compensate for the lysosomal enzyme that is deficient in Gaucher disease.

Other research on the therapy of Gaucher disease is done by biotechnology companies. This includes the use of pharmacological chaperones by Amicus Therapeutics and a new form of substrate reduction
therapy by Genzyme Corporation. Clinical trials in neuronopathic Gaucher disease may begin in the coming years.

After slowing down for the past week or so, I’ve really done some thinking.  I know, very dangerous.   I realized that I am very angry, very disappointed, and just downright pissed.

• I’m angry that Hannah is sick with this type of disease.  She is such a beautiful, sweet baby. 
• I’m angry that I am constantly worrying about her prognosis.  I admit that I am cherishing the moments more than I probably would have, but photos and videos can’t capture her soft touch, her caress, or her genuine smile when she sees me.
• I’m disappointed that certain people I hoped to be able to count on for help and support have not only not been there for us but basically have disappeared from our lives.  There are even quite a few that I haven’t even heard from since we found out Hannah was sick.
• I’m angry that I am no longer the “in touch” mom I was.  Last year I was room mom for both Ethan and Abby’s classes and loved it.  I knew all the parents and knew all the kids.  This year, I couldn’t even tell you 1/3rd of the kids’ names in either of their classes.  I can’t attend all their functions, and I admittedly even missed on of Ethan’s recently because I just forgot about it (and feel horrible since all but two kids had their parents show up).
• I’m disappointed that I’ve let myself go to the point where I can’t even stand looking in the mirror anymore.   I actually got a manicure and a haircut before we left for Vegas.  Would you believe it had been almost 4 months since I had my rat’s nest of hair cut?  I can’t remember the last time I got a manicure before last month.  I felt pretty and feminine — I actually felt like a woman!
• I am angry because of our financial situation.  We were so self-sufficient before this situation.  Two incomes (even though mine was part-time so I could be the involved mom), nice small savings.   Now, we are down to just one income and our savings is dwindling down to make up for my lost income.  I’m trying to get writing jobs, but it is very difficult — I am thankful I have been able to get two paid articles, however!

I am extremely thankful for, however, those people who I didn’t know would be there for us who have come through for us with flying colors with all kinds of support.   You know who you are.

Just got an email from Hannah’s genetics doctor’s research coordinator.  The results aren’t in yet, but she was told to check back on Monday.  The sample was sent to them on February 6th, and we were told 6 weeks.

Positive thoughts for type 3, type 3, type 3 — heck, even a very unique type 1 would be even better!!!  But I’ll be realistic — please, just no type 2.

Just wanted to share some pics of Hannah this past weekend.  I can’t believe she is already 7-1/2 months old!  There are many more pics I just uploaded at Facebook and Shutterfly!

Wow, it is amazing what a change of scenery can do for the psyche, you know?  We made it home from Vegas, and it was great spending time with my husband’s family and meeting my new little niece.  She is just so adorable (and so little – 8 weeks old!).  It was nice letting down the “fight” mode for a few days and just “be,” you know?  But now it is time to put the gloves back on.

Here is where we are at with Hannah…

• We are still waiting on the DNA sequencing to be completed to see if we can compare her DNA to one that is in the Gaucher Registry to see if 1] she has Gaucher’s Disease type 2 or type 3, and 2] to see if there is a known prognosis for another child with this DNA match.  They said 6 weeks for this test.  It was sent out on February 7th.  If there is no match, then we may opt for the additional skin biopsy to be sent to Stanford to utilize an experimental test to see if it is type 2 or type 3.
• We have an upcoming swallow study and a neuroopthalmological evaluation.  I have to get the swallow study appt set up this week, but the NeuroOpthalmology appt is in late April.   Other than that, we just have our regular monthly visits with our favorite pediatrician, Dr. B.  and possibly seeing our genetics doctor (Hannah’s lead doctor) in the next few months.  We don’t see her neurologist up in Dallas until mid August.
• Continue the Cerezyme treatments.  Just to clarify to the newer readers of this blog, the Cerezyme treatments ONLY help the physical symptoms that she has from the GD — the enlarged spleen and liver and will help minimize bone problems.  Since it does not cross the blood-brain barrier, it does not help the neurological problems of GD23, which is the part that really sucks.  Basically, we are doing the Cerezyme to make Hannah more comfortable at this point.
• Fundraising.  My neighbor friends are helping put on a Walk/Run for Hannah with silent auction tentatively scheduled for September of this year.  So, if you are near the Houston area, we would love to have you join us.  More details as they become available.  They are also hosting a Chic-fil-a night in April to help us raise funds as well.
• Hannah.  She is stable, so that is good.  She still has some abnormal eye movements, but they aren’t severe at this point (although she does not have any rapid eye movement control).  She still has some slight breathing issues (when she gets really excited or worked up, she breathes a bit heavier — her lungs are most likely smushed because of the enlarged abdomen).  But she is a very interactive baby!  She LOVES people and pretty much charms everyone she meets.  If you already didn’t know she had GD2 or GD3, you would not know she was an ill baby facing a life-limiting disease.