Summary Update 3/27/2010

Where Hannah is at (3/27/2010 – 20 months old)

Physically, Hannah is doing pretty stable since her last update.

• Hypotonia (muscle tone weakness), especially in her legs, is still pretty significant.  However, thanks to hydrotherapy, physical therapy, and lots of playtime with us at home, she has really gained in the area of gross motor development.  She is able to reciprocal crawl on her knees for more than 30 feet without stopping, she loves to cruise around furniture and really loves to stand assisted.  She is able to sit on her own, but she is only able to get into the dreaded “W-sit” on her own (sitting with her legs in a W shape, gives her a bigger base of support) which is not so good for her hips.   She has a gait trainer now (like a walker), and she has just started using that, which we hope will help give her the strength in her legs needed to walk on her own.
• Swallowing/Feeding issues. Her laryngomalacia (throat muscle tightness) and vocal cord paresis (weakness) has actually improved over the past 6 months, which was a great surprise to everyone on her team.   After our most recent visit to the NIH this past month, their swallow study (xray watching her swallow) revealed that she does not have the knowledge to chew her food before swallowing and also possibly has a hypersensitive defensive gag reflex, therefore, we are going to keep Hannah on a liquid diet (with a few cheetos as long as she does not choke!).  When we return to the NIH in 6 months, we will learn more about this swallowing issue and whether it is progression of her disease or immaturity in her oral feeding skills.
• Abnormal Eye Movements. She still has really poor muscle movement of her eyes both horizontally and vertically.  Basically, she has almost a webcam-type of vision.  However, she compensates really well by thrusting her head when she wants to look at something.  Her vision, however, is perfect.
• Cardiac issues. She still has a patent foramen ovale and a slightly dilated aorta, but there is nothing of acute concern at this point.  More like to keep an eye on things.
• No failure to thrive! Many type 2 children have failure-to-thrive issues, and all the doctors at the NIH at our recent visit were pleasantly shocked to see how healthy she looked.  She is almost 25 pounds and around 31 inches!   She had plateaued her weight for almost 5 months at 22 pounds while we were trying to figure out her feeding plan, but once we did, she is finally gaining.

Developmentally, she definitely has global delays.  Most of her doctors and therapists put her between an 8-month-old and a 12-month.  But, and this is most important, she is still learning new skills.  Just recently she learned how to put things into a container (mastered taking things out awhile back), handing a toy to someone when asked (with visual sign language), and holding a bottle with handles on her own.   She is starting to learn tasks much quicker than she did in the past — whereas it may take a couple of months trying something new before she would get it, she will now get it within a few weeks if it is something she can comprehend doing.

Most importantly, she is an incredibly happy and smiling baby.  Now that her vocal cord weakness is starting to improve, we are actually starting to hear the beginnings of a vocal laugh and cry/tantrum now.  For so long, she was a silent laugher/cryer, sometimes to the point of hyperventilation.  But she is slowly learning to utilize her voice, even though all her communication is still babbling and her own unique gurgling sounds.

After our most recent NIH visit, we were finally able to get rid of the classic type 2 Gaucher’s diagnosis.  However, they don’t feel comfortable giving us a type 3 diagnosis.  Hannah is considered more of a spectrum Gaucher case.  What Dr. Schiffmann told us many months ago still holds true — Hannah is somewhere between a mild type 2 and severe type 3.

As for disease progression, we definitely see that it is affecting her much more than it was 8 months ago.  However, it is progressing much slower than everyone anticipated, which is a gift.  We finally get to do something that we did not believe we would get to do one year ago — plan her second birthday party!

Where we are now…(as of 8/1/09)

My baby girl is ONE year old now!  This was a milestone that I spent many nights fearing we would never see over the past year, but here she is.  She made it.  Not only that, she made it in style!  We are having a big birthday party for her tomorrow!

We had a wonderful experience at the National Institutes of Health where we met Dr. Ellen Sidransky, Dr. Ozlem Goker-Alpan, and their team of neuronopathic Gaucher experts from NeuroOpthalmology to Rehabilitation Medicine to Neurology to Speech Pathology and so many more in between.  We walked away from the visit feeling incredibly empowered, because we finally had a handle on what symptoms she does have and suggestions on what we can do to improve her progression (physically).

For a complete list of what we found out there, click here. But to summarize, she has an atrial septal defect (probably not related to GD), vocal cord weakness (not sure how it is related to GD, as it has never been seen in GD before), global developmental delays, ocular motor apraxia and supranuclear gaze palsy, severely decreased blink reflex, slight lid retraction, decreased central tone and increased peripheral tone, and loose ligaments in her lower extremities.

Bottom line, they won’t “type” Hannah as a type 2 or type 3 at this point because she doesn’t seem to classically fit into either of these categories.  Daddy and I walked away feeling that they felt she should be a type 2, but she isn’t acting like a “classical” type 2 but more like a type 3.  Regardless, she is the “Hannah type” at this point!

Treatment and Research
With everything that has been going on during the past month, there isn’t much to add.   Gaucher Foundation UK has put out a very informative newsletter this past month which includes some of the research going on overseas.

Once Ethan and Abigail start school in a few weeks, I’m going to start working on a fundraiser to try and raise money for some real research to help Hannah and the other nGD kids.  For those in and around the Virginia area, there is a walk on September 20th to help raise money for our nGD kids – please consider participating!

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Where we are at now…
(as of 6/21/2009)

Hannah’s Health. She’s almost 11 months old! We are getting ready to start planning her first birthday party! (7/25/09!)   We didn’t give ourselves permission to even start thinking about reaching this milestone until last month.  But here she is!  We are planning a party!

She has been pretty stable this past month with her symptoms with the exception of worsening eye movements. She has a much more difficult time finding where she wants to look (her eyes don’t connect with her brain correctly, so she sometimes just stares out excitedly even though we can see she wants to look at us). That has been pretty depressing, because it is more of a daily reminder that this is a progressive disease not a chronic one.

She got her first set of SMOs (ankle orthotics). She has gotten used to them pretty quickly, but when we have to put shoes over them so she can stand without sliding, she hates it. I’m assuming it feels like she has clown feet since we had to get shoes that are extra wide in order to accomodate the braces. She will start working with her PT next week with these.

She still has some definite feeding issues! She just does not want to have us put food in her mouth. On certain occasions, she will let Daddy feed her a fruit baby food, but that is a 45-minute process for one jar! Her occupational therapist has suggested we let her try some table food that she can munch on without breaking off so she can start getting the feel for texture and taste in her mouth — so far we have tried red licorice and a hard pretzel, and she definitely gets into that. It is quite frustrating because she puts EVERYTHING into her mouth. We haven’t even started working on the gagging reflex she has once food breaks off in her mouth.

Treatment, Cure, and Research
Holy cow! This has been a chaotic month. The company that makes Hannah’s IV treatment, Cerezyme, is having to close down its plant for a month or so in order to eradicate a virus that has been found. This is definitely going to cause a shortage of supply, as they have already admitted. I’ve been in constant contact with Genzyme, and I don’t know what their plan of action is yet for Hannah and the other neuronopathic Gaucher kids who cannot miss a dose.

Hannah was featured in the Boston Globe because of this!

We have two important appointments in the next few weeks.  The first is a visit with the associate director of the Parkinson’s Disease Clinic at Baylor Univ in Houston as well as our week-long trip to the National Institute of Health to have Hannah evaluated. Other than that, we keep going along with our 3 therapies a week, 2 IV treatments a month (hopefully!), multiple doctors appointments, and our own home-time therapy.

Ethan and Abigail
We are starting to plant some more seeds into both of them about Hannah’s current condition. Between the orthotics, developmental delays, abnormal eye issues, and feeding issues, they definitely are starting to realize that Hannah isn’t doing the normal baby things. They don’t know the seriousness that her disease could lead to, but at least they are starting to realize that Hannah is going to be a “special needs” child. One step at a time…

Parkinson’s Link
More and more studies are coming out regarding this link, but I can’t seem to get anyone in the Parkinson’s community to realize how important this is! It is so incredibly frustrating!!!

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~Where we are at now…
(as of 5/20/2009)

Hannah’s Health
She is just a few days shy of her 10-month-birtday, and we are starting to see some definite progression of her disease.

Also, her head circumference has started to level off some, and since her soft spot is still sunken in and soft, it looks like she may not have hydrocephalus after all.  That is a good thing!  We will still be having the brain MRI at the NIH next month just to make sure.

Because of the hypotonia in her legs, she now has her

Feeding issues.  We are still having

Her medical regimen now includes her Cerezyme treatment every 2 weeks, PolyVisol vitamin drops every day, and prevacid for acid reflux every day.

Treatment, Cure, and Disease update

Oh yeah, and

We have two very important appointments in the upcoming month including a

• Probable hydrocephalus.  Even though this isn’t the typical GD23 symptom, it is pretty common in GD23 patients with the rare D409H mutation.  We are waiting on a brain MRI to verify this.
• Hypotonia in her legs (low muscle tone).  Since she is losing muscle tone in her lower legs, we are waiting on a prescription for orthopedic shoes to help her learn to balance correctly.  Basically, $1300 high tops!
• Hypotonia in her throat. She is still having mini-coughing spells here and there and heavy breathing when she exerts herself a bit, but we are just keeping an eye on her for now.  She hasn’t really choked in a while, which is a good thing!
• Ocular motor apraxia and lack of blinking. Even though the ocular motor apraxia isn’t new, she has now lost the involuntary ability to blink.  It is really weird.  She just stares.  They aren’t seizures because she can interact, play, and be normal, she just doesn’t blink…even if you put your finger right in front of her eye.  She will blink, however, if you touch her eyelash or if she is really tired (she blinks fine when tired).
• Neurologic tongue issues. We are making very slow progress on her eating solid foods with a spoon.  We seem to have much more luck with fruits than veggies LOL.  However, it does take about 30 to 45 minutes for her to finish one jar of baby food.  We are continuing to add a jar of baby food into most of her bottles so she can get the taste and nutrition from them.  We meet with the hospital’s occupational therapist and speech therapist next month.
• Developmental delays. It seems like we have made very little progress since last month.  Her pediatrician warned me, however, that she is going to start falling farther and farther behind at this point compared to other children her age.

Treatment, Cure, and Disease update
We had some incredible, incredible studies published this past month! Two very important studies came out that have not only proven the strong link between Parkinson’s Disease and Gaucher’s Disease, but they will also hopefully open the eyes of many Parkinson researchers and biopharmaceuticals towards Gaucher’s Disease!   The PROBLEM is that we can’t seem to get any media attention to share this great news.  It is so obvious that even though Hannah’s disease is not a form of Parkinson’s disease, there is such a huge similarity in so many of the symptoms that they cannot have some type of same structure.  I KNOW Hannah and the other kids may hold the key to learning more about Parkinson’s if just given the chance to be studied.

I had a conference call with a research group who I feel would be a great asset to the GD23 research.  The problem is when you get into the “big time” you need “big money.”  $200,000 just for the first 6 months to get started!!!!  Now I just have to figure out how to raise that kind of money — it really is the only chance Hannah has.

Upcoming
We are tentatively scheduled to go to the National Institute of Health in mid July.  We are just waiting on confirmation.

We have hospital physical therapy every week, ECI developmental therapy every week, ECI occupational therapy every other week, and we are waiting on consultations from the hospital occupational therapy and speech therapy in June.  I’m sure those will be at least weekly as well.  Lastly, Hannah also has her Cerezyme treatments every other week at TCH, which are going very well.

How are we doing?
Honestly?  It is getting touch to watch now that these major symptoms like hydrocephalus and hypotonia are coming to the surface.  Maybe we were in a bit of denial up until then because things seemed so uch simpler with smaller symptoms.   But she has no idea what is going on, and she is in no pain, so she still is a happy and smiling baby!

Finances are becoming an issue for us now, so I am looking for find a job on the weekends or at home with flexible hours to help bring in some money.  Unfortunately, because of Hannah’s schedule during the week (4+ therapies plus procedures and doctors appts) and not being cleared for day care (especially now), I can’t get a regular job during the week.  It is incredibly frustrating, especially with this “recession.”

Abby and Ethan still don’t know the seriousness of Hannah’s condition, and at this point, there really is no need to.  They know she has problems with her eyes, and they know that she has to have “teachers” (therapists) to help her learn things.  I think their love is one of Hannah’s best medicines because no one can make her laugh like they can!

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Where we are at now…
(as of 4/19/2009)

Hannah’s Health
Hannah just recently had her almost 9-month checkup, and things seem pretty stable right now for the past month, yay!  Her abnormal eye movements (lack of saccadic movements, supranuclear gaze palsy, etc.) do not seem to have gotten worse, or she has found a way to adjust to this situation.  She is still growing like a weed, and she is 18 lb 7 oz and 27 inches long.

Developmentally, she is still testing delayed in physical (testing at 4 months of lage), adaptive behavior (testing at 5 months of age), and communication (testing at 6 months of age).  Not surprisingly, she is testing at the 8-month level for cognitive ability and at the 11-month level for socio-emotional behaviors.

She does have some feeding issues where she does not know how to use her tongue to eat solids (which is a neurological feature of her disease), which has caused some feeding issues.  So, we are going to be meeting with a speech therapist to see if she can evaluate Hannah and work with us on teaching her how to use her tongue correctly to eat.

She had a swallow study last week (where we found out about the tongue issue).  We were worried about swallowing difficulties because that is one of the next symptoms we are to look for.  Fortunately, her swallow study came back normal, and we were able to prove that she is swallowing correctly and not aspirating fluid or food into her airway!

She does have fluid in her ears (clear, not infected), so we have to go back and see her ENT doctor.  Just like her sister!  (However, if we have to go the ear-tube route, we have a major obstacle to deal with – sedation).

Disease Update
We received the DNA sequencing back, and surprise, surprise!  In the entire registry of Gaucher’s Disease (over 6600 patients of which 95% are type 1), there has never been her combination of Gaucher’s mutation before!  There is nothing in the literature about this combination (84gg, the most severe type 1 — D409H, one of the most severe type 3), so they have no idea what to expect.  So at this point, we still don’t know if it is type 2 or type 3, because as I was told, this doesn’t automatically make it type 3 because “just like mixing mayo and mustard, you create a whole new type of mix, not two separate flavors.”

Upcoming
Hannah has a neuroopthalmology appointment next week along with her bi-weekly Cerezyme treatments (which she handles like a pro!).  We are now 2-1/2 months into her Cerezyme treatments, so hopefully within the next 6 to 8 months, we can get an official update from her genetics doctor as to whether or not the Cerezyme treatment is affecting her Gaucher’s Disease.

She has developmental therapy once a week with Early Childhood Intervention and occupational therapy every other week.  Speech therapy is also going to be thrown into the mix very soon.

We are in talks with the National Institute of Health to have them sponsor us for a visit their facility next month (they cover all expenses).  Since they have never seen this combination before, they are interested in evaluating Hannah in hopes of learning more about this disease and hopefully find a treatment.  It is exciting in the fact that these are the absolute experts in this disease.

Treatment or Cure?
Unfortunately, nothing even close yet.  I’m still scouring all the latest news regarding companies working on various aspects of this disease, and I have about 6 or 7 leads.  But nothing that will have anything available within the next year or so.  All these people that are working on GD2 and GD3 need money.

There has been a definite link established between Gaucher’s Disease and Parkinson’s disease, so I want to learn more about this in hopes of securing funding to explore this more.

How we are doing?
We are doing good.  Stressed, tired, and overwhelmed.  But we have a sense of the ability to slow down just a bit since the results of the swallow study knowing that the disease hasn’t progressed to her swallowing yet.

We need money though.  We need money for research to save her.  There are scientists out there “on hold” or going on a “slow pace” because there is no money for their projects, and that just kills me!!!   There has GOT to be a way to raise money for this!!!  My first goal was to raise $10,000 by Hannah’s first birthday (July 25th), and we are only 1/3 of the way there.

We eventually need BIGGER money, but all those who have donated $10, $25, $100, etc., THANK YOU!  I definitely adds up!!  If you can help us by hosting a fundraiser in your area (Chic-Fil-A did a very successful one for us, plus we had good friends ask for donations for Hannah’s fight instead of gifts for their son).  We really need all the help we can get.