Archives for March 2010

I just realized that it has been almost 8 months since I did the last general Hannah update!

Where Hannah is at (20 months 0ld)
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, they are just very slow, few, and far between.  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!

Hannah had a rough day today.  She seems to have developed a cold and congestion, which wrecks havoc with her ability to sleep.   Last night was probably the hardest night in many, many months, as she and I were up much of the night.  Then, she had to go downtown with Daddy to get her Cerezyme infusion.   Apparently she was incredibly cranky there, more so than usual.  I think trying to get her back settled into a routine was much rougher on her than we had anticipated after being gone for 8 days!

But she is asleep now with her humidifier, her head on the pillow wedge trying to keep her from getting too congested.  We will see how long it lasts!

However, for the first time since Hannah started her infusions 13 months ago, she finally had an increased dose of Cerezyme.  I had been pushing for this for a few months, especially since she has gained quite a bit of weight since she first started at 6 months old.  (Cerezyme is dosed based on weight – 60 units per kg).   She had been on 400 units, and today was her first day at 600 units (she is 11+ kg now).

There is so much to do in the next 2 months to prepare for our move.   Even though I wish we could move today and just get it over with, I know having the two months is definitely a requirement just to try and get things done.   We really need to get on the ball and start getting ready, especially with finding a rental house so we have a place to move when we get there!

We have already narrowed down our move date.  We are going to leave the Friday or Saturday after the kids get out of school (which is on a Thursday).   Abigail, Hannah, and I are going to fly to Vegas and stay with my inlaws, and Ethan and Daddy are going to drive my minivan from Texas to Vegas and bring the two dogs and cat.   Also, Daddy is probably going to drive his car over in a few weeks and leave it at his inlaws as well as try to get some interviews going to see if he can find some kind of work.

Wow, what a whirlwind week this has been!   I will probably create a few posts to share about everything that went on this weekend because there is just that much that has gone on!  But first things first….

Hannah was a great trooper at the NIH this visit.  She was a lot more cranky than usual during the evaluations and consultations, but I think it is more that she is just tired of people poking and proding her.  But, she made it through.

The good news:

• She surprised many people with how great she physically looked.   What they were looking for was to see if she had failure-to-thrive issues, if she was “cachetic” looking, etc.   She did not look like a baby anymore, definitely a toddler.
• She has gained in skills.  Even though she is very slow at gaining skills, she still has gained skills since we saw them 8 months ago.  She also has really not lost any skills either.
• Her EEG and Hammer test were normal.  No seizures! BAER was not able to be determined because Hannah has fluid in her ears.
• We got to spend time with Dr. Sidransky, Dr. Goker-Alpan, Catherine (the N.P.), and other members of the NIH team discussing not only Hannah but other Gaucher-related issues and even non-Gaucher related issues.   These are just some really amazing, wonderful people.

The concerning issues:

• Swallowing/Feeding issues.  This was our main concern going into this reevaluation with Beth Solomon.  Hannah had another swallow study done (last one was with Beth 8 months ago).  It has been determined that Hannah is missing a step in the chewing process and does not have the instinct to chew her food before she swallows it.  I don’t have the paperwork with me right now, so I will post the official terminology later.  Long story short, she chews with the front of her mouth but she does not bring things to the back of her mouth to chew smaller before swallowing.  So she just swallows things pretty much whole.  Hence the gagging.  So now it may NOT be the hypersensitive defensive gag reflex or it may be a combination of this gag reflex (we did not try solid foods with Beth) plus this premature swallowing issue.
• Clonus.  Many of the doctors noticed that Hannah has this shaking of her hands and body when she gets agitated.  We always thought it was just Hannah being shaky because she was upset, but now there may be more to it.  Ever since it has been brought to our attention, we have really noticed that it is more common than just when agitated or upset.  I am still not 100% convinced that it is this “clonus” all this time but may also be part of her hypotonia and poor tone.

The good news is that none of the doctors think she has classic type 2 Gaucher’s anymore.  But that does not necessarily mean that she has type 3 Gaucher’s either.   They believe that she is on a spectrum of neuronopathic Gaucher’s disease and that she is not clear cut in  type.  It all goes back to Dr. Schiffmann’s original thought about Hannah being somewhere between a mild type 2 and a severe type 3.

Dr. Goker-Alpan and Dr. Sidransky think that our next visit in 6 months is really going to be key in seeing where we are in terms of progression of the disease.    They are going to be looking to see if she still continues to learn new skills, keeps growing, how her swallow issues play out (whether she has an immature swallow which she will grow out of or whether it is progression of her disease), her eye movement problems, etc.   I know they are going to do another brain MRI and some other testing just to keep tabs on her, including keeping an eye out for hydrocephalus (water on the brain), which has been noted in the D409H mutation.

Being able to have these incredible doctors take such a personal interest and care of Hannah is such an amazing gift to us.  Even though we are technically there for their “research study,” we left there with such a huge piece of mind knowing what exactly we are dealing with, what we have to keep a close tab on, and what is looking stable right now.  After leaving the NIH this time, we left with a huge weight lifted off of our shoulders.  We just knew where we stood in terms of her health, and those questions that could not be answered are really those that just can not be answered by anyone.

We will see them back in September!

Hannah did pretty good her first day of testing!

The morning started with meeting with Dr. Goker-Alpan, Catherine (the nurse coordinator), and Dr. Sidransky. They all separately commented on how they couldn’t believe how much Hannah has grown! They all commented how she totally looks like a toddler now and lost the baby look. But the best part of all was just hearing their pleasure at how good Hannah looks in terms of appearance, size, etc. No failure-to-thrive baby here!

We had a really rough night last night, as Hannah woke up almost every hour on the hour. So by the time she had her appointment for her EEG, she was exhausted. She slept through her EEG, the BAER (two trials), and even the Hammer test (two trials). The technician, Mike, could not believe that she slept through EVERYTHING, and that he was able to get two run throughs of the BAER and Hammer test! At least we know that whatever results we get, they had good data to go through.

We came back to the hotel afterwards, and everyone played for a while.

Then, we had to go back at 7:00 pm for a neuro appointment. Hannah was just NOT in the mood, and she had such a tantrum when the neurologist was examining her that her face was bright red, sweating, and she was ready to start hyperventilating. Nothing would distract her, not even her Mickey Mouse Clubhouse DVD. That appointment lasted a whole 10 minutes.

We were able to calm her down enough for our 8:00 pm appointment with Dr. Goker-Alpan. Hannah was back to normal, and spent the time just watching her Mickey Mouse DVD. It was a great conversation, and it gave us a good basis to start the week in terms of what to expect from the tests, the visit, etc.

Tomorrow we start with her abdominal ultrasound, skeletal xrays, and then we have something else in the afternoon.

The interesting “add” to the list is that they are going to do some testing on Daddy, as they are very interested in study more about the D409H gene mutation that he has. So, they are going to do an echocardiogram on him as well, as D409H historically is associated with cardiac calcification issues and hydrocephalus (studied as D409H/D409H homozygous GD).

We just got our list of tests and consultations that they are going to be doing on Hannah next week.   Fortunately, they have spaced them out so that she only has 2 or 3 things a day!

• EEG
• BAER (hearing test to see if she is hearing things correctly)
• Neurology evaluation
• Abdominal ultrasound
• Skeletal X-rays
• Swallow/Speech evaluation
• NeuroOpthalmology
• PT/OT consultation
• Genetic counselor

Fortunately, none of these will require IV or sedation like the MRI and CT scan last time.