Four days and counting…”the video”

I’ve watched this video dozens of times.  I know many of you that have been joining us on this journey have seen it as well, most likely.

This was taken when Hannah was 4-1/2 months old, before we even had a diagnosis.   We have no idea what set her off, but she was laughing like this for over two minutes!

As I was watching it tonight to post on here, I realized that Hannah doesn’t laugh like this anymore.  It is not that she isn’t happy, it is just that she doesn’t have any more belly laughs like this anymore.  My guess it is related to the vocal cord paresis.  I’m glad that I have this video.  I’m just very sad that I may not hear this laugh from her again.

Five days and counting…

I think after such a whirlwind week at the NIH, I feel like I have totally crashed since being home. 

Hannah has spent today completely attached to me.  No, I didn’t mind.  I realized as she fell asleep on me during the day that we haven’t had this type of day in a couple of months since Abigail was still in preschool back in early June.  I missed that quiet time with her.  Of course, I didn’t expect her to be so clingy though.  I think she must have been feeling the same way that I had been.  I actually ended up sleeping with her, cuddled on the couch, during her first nap today.

Right now, it is almost 10 pm, and it is past her bedtime.  For whatever reason, she is fighting sleep tonight big time.  She is so tired, but she is laying on daddy, giving me such a huge grin through her pacifier.

She turns ONE in just five short days.  My baby is almost ONE!

Houston, we have a tooth!

Yes, I know I was worried about Hannah getting her teeth in.

But you know what has now popped through her lower middle gum?  Yep!  We have the top ridge of a tooth!  OMG, I was jumping up and down with joy today when I saw that.  I know, it was silly. 

Even better, the other side of her front lower middle gum has the little white ridge trying to break through.

She is getting teeth!  Whoo hoo!  Another milestone she has hit!!!!   (I tried getting a picture, but it didn’t work…yet!)

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

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.

Happy 10-month birthday, Hannah!

Happy birthday to you,
Happy birthday to you,
Happy birthday my Little Miss Hannah,
Happy birthday to you!

It is so exciting to finally think about celebrating Hannah’s first birthday.  This was a luxury that we hadn’t allowed ourselves to think about up until just this past couple of weeks.  Honestly, we weren’t sure if she would be here for her first birthday. 

But we are just two months away, and now it is time to start planning your party!!!!

10-year-study solidifies strong link between Gaucher’s Disease and Parkinson’s Disease

Today is an INCREDIBLE day in the world of Gaucher’s Disease!  Two very important studies came out in the past day or two that have not only proven the strong link between Parkinson’s Disease and Gaucher’s Disease, but they will also open the eyes of many Parkinson researchers and biopharmaceuticals towards Gaucher’s Disease!  

Is GD23 similar to a “childhood Parkinson’s Disease?”  Now that this genetic link between PD and GD is here, it is time for researchers to realize that researching the babies of Gaucher’s disease with the neuronopathic type is critical to understanding Parkinson’s disease.  Gaucher’s Diseases types 2 and 3 share so many of the same symptoms as Parkinson’s disease such as supranuclear gaze palsy, balance problems, fine and gross motor problems, fatigue, and swallowing problems.  It cannot be just a coincidence that these two disease share so many of the same symptoms!

It is time to reach out to organizations such as the Michael J Fox foundation, the National Parkinson foundation, and the Parkinson Disease Foundation and say “Hey, our kids may hold the key to understanding your disease!”  

Not only that, but the pharmaceutical companies that make Parkinson’s medications such as Sinemet, Stalevo, Parcopa, Cogentin, Artane, Eldepryl, Zelepar, and Azilect need to be looked at more closely to see if there is something within those medications that can be reformulated and used to possibly help our gaucher kids!

Association between Mutations in the Lysosomal Protein Glucocerebrosidase and Parkinsonism
A body of work has emerged over the past decade demonstrating a relationship between mutations in glucocerebrosidase gene (GBA), the gene implicated in Gaucher disease (GD), and the development of parkinsonism. Several different lines of research support this relationship. First, patients with GD who are homozygous for mutations in GBA have a higher than expected propensity to develop Parkinson’s disease (PD). Furthermore, carriers of GBA mutations, particularly family members of patients with GD, have displayed an increased rate of parkinsonism. Subsequently, investigators from centers around the world screened cohorts of patients with parkinsonism for GBA mutations and found that overall, subjects with PD, as well as other Lewy body disorders, have at least a fivefold increase in the number of carriers of GBA mutations as compared to age-matched controls. In addition, neuropathologic studies of subjects with parkinsonism carrying GBA mutations demonstrate Lewy bodies, depletion of neurons of the substantia nigra, and involvement of hippocampal layers CA2-4. Although the basis for this association has yet to be elucidated, evidence continues to support the role of GBA as a PD risk factor across different centers, synucleinopathies, and ethnicities. Further studies of the association between GD and parkinsonism will stimulate new insights into the pathophysiology of the two disorders and will prove crucial for both genetic counseling of patients and family members and the design of relevant therapeutic strategies for specific patients with parkinsonism. © 2009 Movement Disorder Society

Researchers believe they have found genetic cause for Parkinson’s disease
A team led by Shoji Tsuji of the University of Tokyo, and Tatsushi Toda of Kobe University discovered that those with a mutation in a gene called GBA are 28 times more likely to contract Parkinson’s disease. They now hope to use their finding to explain exactly how the disease is caused, and develop a treatment.

There are an estimated 150,000 cases of Parkinson’s disease in Japan. In 90 percent of the cases, however, they are the only members of the family to contract the condition, and the genetic component of the disease has never been identified.  However, the team noticed that the GBA gene, which is responsible for causing an unusual condition called Gaucher’s disease, also showed a mutation in those with Parkinson’s disease. They examined 534 Parkinson’s patients and 544 healthy people, and found that 9.4 percent of those with the mutation suffered from the disease, and just 0.4 percent did not. They also discovered that those with the GBA mutation contracted the disease around six years earlier than those without.

“It’s the first time that a risk factor has been this clearly identified,” said Tsuji.

Doing the “rolling over” happy dance!

Today is a HUGE day!  I wish I had pictures of it, although I do have a video of it downstairs, but you are going to have to wait because I am just too excited to share!

Nine months old, and guess what my little miss Hannah has mastered — ROLLING OVER back to stomach!  Yes, ladies and gentlemen, I am so proud to share that for the first time every, Hannah finally rolled back to front by herself without help!  Once she did it, she didn’t do it just once, not twice, but EIGHT different times.   (She had been doing stomach to back for a few months now)

It was almost like she found this newfound freedom by doing it!  The funniest thing today was watching her do three rolls on the carpet in our living room.  It takes so much effort for her to do it, you can hear it in her breathing.  On the last roll, she just laid there and didn’t move.  I waited about 60 seconds before checking on her because I figured she was just relaxing.  So I go up to check on her, and she was completely asleep!  Sound asleep in mid-roll.

This is huge, huge, HUGE!!  This is a delay we can wipe off the list!

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