Worsening eye movements

21 Jun by Mommy

We met with Dr. B., Hannah’s pediatrician, on Friday for her monthly check-up.

Her head circumference growth seems to have leveled off and actually didn’t change in the past 3 weeks.  This is good news in hopes that she does not have hydrocephalus!  We will still probably be doing an MRI of the brain at the National Institute of Health in July, however.

Hannah’s spleen really is starting to shrink now.  Before it went 5 cm below her costal bone (rib), and Friday, it is almost at the 3+ cm mark!  What a big difference!  Her liver is also starting to shrink a bit now.  Her platelets, however, went down just a bit to 147,000 (we were hoping for a raise since the spleen is shrinking).

Everything else was what we already knew except her worsening eye movements.   Daddy and I have been noticing it for the past few weeks, but Dr. B. saw it and mentioned it, so I knew it was true. 

I don’t know what the medical term is for it, but she seems to have trouble moving her eyes to where she wants them to go.   For example, she was in her exersaucer today, facing away from me.  I called her name, and you can see she got really excited, jumping up and down, and with a huge grin.  However, even though she started moving her body towards me, she couldn’t seem to get her eyes to unlock from straight ahead where she was. 

It is like we go through days where everything seems great, but then we get hit with these reminders that she really does have this progressive nasty disease, and it breaks my heart.  Now that it is more often and more noticeable, these reminders happen more often now.

~ Filed Under: Hannah's Fight

Mutations for Gaucher disease linked to high risk of Parkinson’s disease

20 Jun by Mommy

http://www.phgfoundation.org/news/4676/

What’s the connection between Gaucher disease, a rare single gene disorder of metabolism that appears during childhood, and Parkinson’s disease, a common multifactorial disorder of the nervous system that occurs late in life? The answer lies in just a single gene (glucocerebrosidase or GBA), which encodes an enzyme required for lipid metabolism and storage within the lysosome. Numerous pathogenic mutations in this gene have been characterised, which result in Gaucher disease if present in both copies of the gene; these recessive mutations are generally assumed to be relatively harmless to the carrier.

 
However, numerous studies have linked pathogenic mutations within GBA with increased susceptibility to Parkinson’s disease. In perhaps the most definitive work to date [Mitsui J et al. (2009) Arch Neurol 66(5):571-6], researchers resequenced the GBA gene in over 500 cases of Parkinson’s disease and matched controls; whilst only 2 of the control subjects had any of the pathogenic mutations associated with Gaucher disease, 50 of the cases were heterozygous for one of 11 mutations in the gene. Having one of these mutations therefore confers a substantial and significant increased risk of developing Parkinson’s disease of nearly 30-fold (OR = 28.0, 95% confidence intervals 7.3-238.3), though individual mutations may be associated with various lower risks [Gan-Or Z et al. (2008) Neurology 70(24):2277-83]. In addition, patients with mutations in GBA were significantly younger at the age of onset of Parkinson’s disease than those without. In contrast, there was no statistically significant association between non-pathogenic mutations in GBA and Parkinson’s disease.
 
Comment: This research is important for three different reasons. First, by combining numerous pathogenic mutations in the GBA gene in a relatively large study, the work unifies various earlier and smaller studies linking the gene with Parkinson’s disease.
 
Second, it highlights a general paradigm shift from the common disease-common variant hypothesis within human genetics, which underlies the recent plethora of genome-wide association (GWA) studies, to the common disease-rare variant hypothesis. If the majority of genetic risk for common diseases is actually located in rare variants, not common polymorphisms, conducting resequencing analysis of specific susceptibility genes is the logical next step in the hunt for the genetic basis for all common diseases. Adopting such a strategy could therefore be substantially more fruitful than conducting ever larger GWA studies.
 
Third, and perhaps most significantly, the work raises serious ethical concerns over carrier screening for Gaucher disease, particularly within the Ashkenazi Jewish population (see previous news). According to the National Gaucher Foundation, the carrier status may be as high as 1 in 15 amongst Jewish people of Eastern European ancestry (and 1 in 100 amongst the general population). The current policy of the UK National Screening Committee is that carrier testing for Gaucher disease should not be offered, as it is treatable and can be relatively mild. However, those who are considering getting tested privately prior to becoming pregnant may now want to think again; a relative risk of ~30 is one of the largest genetic risks known, and may even have predictive ability (though further research is needed here). As Parkinson’s disease has a UK population prevalence of around 1% in the over 65’s (based on data from the Parkinson’s Disease Society), such information could potentially have enormous personal and societal consequences. Additionally, authorities face an even greater challenge – should people who have already had carrier testing be informed of the associated risk of Parkinson’s disease, or not?
 
Such ethical conundrums are only likely to increase as more and more genetic susceptibilities are discovered that have relevance to multiple diseases. To date, this has been a relatively small problem, as most of the susceptibilities discovered through GWA studies have been associated with extremely low risks (OR<2) and have very limited predictive ability. However, if the common disease-rare variant hypothesis is correct, we can expect significantly more issues of this nature to surface over the coming years. Policymakers and clinicians will need to bear this in mind when forming national guidance regarding genetic testing and screening.
~ Filed Under: Gaucher's Disease

Physical, Occupational, and Developmental Therapy Update

20 Jun by Mommy

Hannah is definitely becoming her mother’s daughter.  She is becoming fiercely independent, stubborn, and wants to be in control of what she does.  Don’t know who that would sound like in our family!  LOL

Physical therapy (Wednesday):  She had a great PT day with Ms. Pam.  Even though she was visibly tired from the lack of a morning nap, she was a champ and had a great time.  We worked on balancing while sitting, balancing against the big peanut ball, getting our knees up into the crawling position, and quite a few other things.  By the time the session was over, Hannah was exhausted, but she was smiling.  The best news was that Pam did her one-month reevaluation of Hannah’s progress, and Hannah has hit 4 out of 9 long-term goals already!!!!  THAT is my girl :)

Occupational therapy (Thursday):  We talked about her absolute refusal to let us put our fingers into her mouth, let us feed her with a spoon, etc.  This is where the words “stubborn” and “control” were first thrown around.  Pat, her OT, thinks that this is a protective measure because she is scared to get stuff in her mouth that is not on her own terms.  She has no problem putting anything and everything in her mouth as long as SHE does it. 

Pat gave her a long gummy worm to hold and eat, and she was very curious at first, but then she was in heaven.  Since she has no teeth yet, she was unable to puncture the worm.  We also tried a lollipop, and she LOVED that UNTIL one of us tried holding it and letting us put it in her mouth.  She would keep trying to grab it out of our hands!  So Pat suggested why try opening her up to tastes in her mouth with solid foods that she can’t break off like gummi worms, lollipops, cold zucchini, cold carrots with ranch, thick pretzel rods with salt, etc. 

We are also to take a week off from trying to spoon feed her anything.  We are still going to feed her the baby food in each of her bottles with formula, but we will let her experiment and try putting the food into her mouth.

Developmental Therapy (Friday):  Hannah was just not in the mood.  Even though Hannah loves Jenny, her therapist, she just wasn’t having any more manipulation and work.  It could be that she was getting used to her orthotics and her feet were feeling weird or that she just wasn’t feeling like herself.  But, Jenny is scheduled to come back this Monday, so we will try again!

~ Filed Under: Hannah's Fight

Look who got her new shoes! (Okay, orthotics!)

20 Jun by Mommy

Surprisingly, Hannah hasn’t really complained much about her new ankle/foot braces.  I was expecting a bit of a fight, but nope, it hasn’t happened!  

She does fight, however, when I put the stride-right size 4-1/2 extra wide shoes over her SureStep orthotics.  We are going to have to look out for other shoes because those just are so klunky!   Also, I think going from being barefoot and wearing socks all the time to trying out these big clown-like shoes (with the stride-rites on) totally throws her off. 

She probably feels like she has weights on her foot!

They are really cute, actually.  They have pink, purple, and yellow flowers on them with a pink velcro strap.  Hopefully, these will last for about 4 months (so we were told).  

She is to eventually wear them all day long except for naps and sleep time.  But until then, the first day is two hours on two separate occasions, then three hours on two separate occasions, four hours on two separate occasions, etc.

The orthopedic specialist puts them on her for the first time

She doesnt seem to mind them one bit! (Yet!)

She doesn't seem to mind them one bit! (Yet!)

~ Filed Under: Hannah's Fight

Boston Globe Article – Genzyme plight leaves patients uneasy

18 Jun by Mommy

http://www.boston.com/business/healthcare/articles/2009/06/18/genzyme_plight_leaves_patients_uneasy/

The article came out that I was interviewed for yesterday afternoon.  I’m so glad to see the neuronopathic Gaucher’s disease is finally getting some awareness, but I wish it was not because of the Genzyme plant shutdown.  Again, here are my thoughts on the situation just in case it wasn’t clear in the article.

But, at least now there are more people who know how devastating a disease that Neuronopathic Gaucher’s Disease (as opposed to the type 1 Gaucher’s Disease) is for families.   I wish they had elaborated more on how children with type 2 and type 3 have severe and progressive neurodegenerative brain function decline and that type 2 children have a life expectancy of no more than 2 years and that type 3 children have a life expectancy of young adulthood — if they are fortunate.

It is such a misconception that all Gaucher’s Disease is a treatable disease.  Yes, for the 95% of those patients with type 1, it IS a treatable disease.  But for patients like Hannah and Kyle and the other GD23 patients, it is the only option we have of keeping our children comfortable and prolonging their lives in hopes to find a treatment that will cross the blood-brain barrier and remove the fatty particles from our children’s brain that are not being filtered out.  It angers me to no end that there are so many websites on the internet that report this falsity!

Our children our so incredibly underfunded and underresearched.  Genzyme’s Cerezyme has given up “hope” to help slow down the progression of the neuronopathic portion of the disease so that we can work to find a treatment!   Hopefully the Parkinson’s Disease community will open their eyes soon to see that our children may hold a key to understanding their disease and work with us!

~ Filed Under: Hannah's Fight
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