Archives for October 2009

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…

Hannah did fantastic yesterday during her echocardiogram and EKG.  They did end up sedating her using an oral sedation (she did NOT like the syringe in her mouth, my control-freak child).  She woke up out of the sedation really well, and she was fine for the rest of the day.  They warned us she might be a bit “tipsy” like a drunk, and she sure was.  But she was a “happy drunk” for a couple of hours, laughing at the strangest things.

We met with the Cardiologist this morning.  Hannah does NOT have an ASD (atrial septal defect), but instead they believe she has a PFO (patent foramen ovale).  It is something that is very common, almost 30% of the general population have one.  It can be left alone for the most part unless Hannah developes migraine headaches when she is older, then they can close it.  Otherwise it is just something that will be monitored but left alone!  Great news on that front.

However, they also noticed that Hannah’s aorta is slightly dilated.  This is of some concern, as if it continues to dilate, it could cause an aortic dissection (think John Ritter).   But for now, we are just going to monitor it and do another echo in 6 months.  There are three schools of thought on this:

1. It could be related to Hannah’s D409H genetic mutation, which when homozygous, is known to have the propensity for cardiac calcification issues.  Perhaps her never-before-documented combination could related to aortic issues? 
2. It could not even be related to Hannah’s Gaucher’s Disease, and it is just something “else” we need to keep an eye on.
3. It is just a normal variant for Hannah, and this is the size of her aorta.

In 6 months, we will have a better idea whether or not it is just a normal variant for Hannah or if it is indeed a cardiac issue that is going to have to be closely monitored over the course of her life.