Archives for July 2009

Absolutely incredible, incredible.  That is how I would describe this past week.

We just got back to the Children’s Inn about an hour ago, and Hannah and I both crashed asleep.  It is over!

They did so much during these past four days – EEG/ABR, EKG, echocardiogram, MRI of the brain and liver/spleen, CT scan of the chest, full skeletal xrays, swallow study, laryngoscopy as well as consultations with Neurology, Anesthesia, Rehabilitation Medicine, physical therapy, occupational therapy, and a speech pathologist.  

Dr. Sidransky, Dr. Goker-Alpan, and their extensive team left no stone unturned.  The bottom line?   Hannah is definitely unique and a puzzle of sorts.   She cannot be classified as type 2 or type 3 at this point.

Her abnormal eye movements are pretty severe in comparison to other nGD children.  She has problems with both her horizontal and vertical – apraxia, progressive supranuclear gaze palsy, etc.  I wasn’t surprised by this, but I was surprised that it was one of the most severe their NeuroOpthalmologist (who has seen many GD children) had seen before.  Also, they have no idea what to make of the lack of blinking reflex that Hannah has – definitely not typical nGD…however, they did make the comment that it is something that is found in Parkinson’s disease.

Her vocal cord paralysis is actually vocal cord paresis (weakness).  Again, not a typical nGD feature, so we don’t know how it is related to her nGD or if it is.  There is definite weakness, and she also has some extra tissue in her vocal cord area, so that is something that is going to have to be looked into when we get back.  But, it doesn’t seem like there is a trach in her very near future as we feared before.

Another likely non-nGD finding is that they found a hole in her heart, an atrial septal defect.  Dr. Goker-Alpan has already talked to Dr. B., our pediatrician, and a cardiology referral is already being set in place.  It is definitely not life threatening, but just something that it is good that we found out about, so it can be monitored.

Her physical developmental delays have been classified now as “mildly delayed” by their doctor of Rehab medicine.  Awesome!  We also met with their occupational therapist and physical therapist, and they gave us some wonderful tips.  Also, they definitely believe Hannah should also be given speech therapy as well as visual therapy (if it is available) as well as more extensive occupational therapy.   Also, they don’t recommend Hannah wearing her orthotics until she actually does more weight bearing activities, so for now, they just want her to wear them during PT.  Also, she has central hypotonia, but much of her “weakness” comes from loose joints.

Her brain MRI came back clear, no hydrocephalus!  Her skeletal studies look good.  Her CT scan of the chest showed some small scattered spots similar to some of the findings of type 3 children, but nothing really that dramatic at all.  Her abdominal MRI showed her enlarged spleen and liver, but everything else seemed normal.  EEG showed normal activity, no seizures noted.

So what symptoms are we dealing with that are GD related for sure?  Abnormal eye movements, enlarged liver and spleen, some developmental delays, and these small spots on her chest xray. 

What GD symptoms have we ruled out for now (not to say that we may not see them in the future)?  Heavy lung involvement, swallowing difficulties, seizures.

What other symptoms do we need to also start monitoring?  Atrial septal defect and vocal cord paresis.

This experience was absolutely necessary for us.  We walked away with such a huge piece of mind, knowing exactly what we are dealing with right now.  These are the best of the best of the best in the country, and they have seen many Gaucher patients, so they have something to compare Hannah to.  I honestly think every Gaucher family should take advantage of this opportunity to be evaluated by Dr. Sidransky, Dr. Goker-Alpan, and their team just to know exactly what they are dealing with.

We most likely will be meeting back with them in about 6 months for a followup to see how the disease has progressed.

We leave back for Texas tomorrow!

This has been a whirlwind two days, let me tell you!

There is so much to talk about, but until we get our final wrap-up meeting on Friday with Dr. Sidransky, Dr. Goker-Alpan, and their team, I’m going to just wait. 

We are two days into the four-day heavy-duty testing for Hannah.  She has had a swallow study, sleep-deprived EEG/ABR, echocardiogram, skeletal xray study, EKG, and a neuroopthalmology exam.  Tomorrow is our scariest day, the brain MRI, because Hannah has to be sedated.  I’m scared to death about this, but I know this is important because of the possibility of hydrocephalus.  She also has a neurology exam and a CT scan tomorrow along with the brain MRI.

I am SO glad we came here.  This really was the best, most incredible decision.  Not only are we learning so much more into Hannah’s version of her disease, but many questions have been raised regarding a variety of symptoms, and they are following through so completely on each of them.

Dr. Sidransky is absolutely fabulous, as is Dr. Goker-Alpan and their coordinator, Catherine.  Actually, almost every single person we have met from the neuroopthalmology to the EEG technician to the people here at the Children’s Inn really show how much they care about Hannah and her care.  Many doctors just see “the patient,” diagnose, and move on.  We really feel like they are looking at Hannah as a little girl AND a patient, and they are showing her so much care and personal attention.

Most importantly, Hannah so far has handled this amazingly well.  After every procedure, she is always smiling and bounces back so fast.  My little girl amazes me every day here.  I am just so in awe of her strength and her ability to do what needs to be done and just move on.

Our appointment with admissions at the NIH is in 90 minutes, yet we are all still lying in bed here at the Children’s Inn.  Daddy and Hannah are cuddling in the bed, Hannah laughing at him tickle her with her pacifier.  So cute. 

Yesterday’s travel here to DC was very easy, surprisingly.  Hannah fell asleep about 15 minutes after the flight took off and woke up about 10 minutes before the flight landed.  My uncle was waiting for us at baggage claim, and we had a very scenic ride from the airport to the Children’s Inn.  We saw the Washington Monument in the near distance as well as other historic sites.  That was pretty cool!

One thing we weren’t expecting was having to have my uncle’s car and all of our bags fully searched by security to get into the NIH compound on which the Children’s Inn is located.  I guess I shouldn’t be surprised though since the Children’s Inn had to do a background check on us before we could be approved to stay here. 

As soon as we got here, we met Cristina and Bertrand, talk about timing. We both arrived at the Inn at the same time!   After emailing back and forth for so many months and seeing so many pictures and videos of Bertrand, I felt like I was meeting an old friend!  He is just as cute in person as he is in his pics.  

The people who work here at the Inn are incredibly friendly and helpful.   Daddy, Hannah, Cristina, Bertrand, and I were given a tour of the facility, and it really is a very welcoming setting. 

I was able to chat with my mom to hear how Ethan and Abigail were doing.  They are having such a great time in Cali!  Swimming, beach, museum, and they are even going to go to Disneyland!   I have to admit that I am missing them terribly, moreso than I thought I would this soon. 

Anyway, we ended up getting a pizza for dinner, and then I fell asleep soon after.  I didn’t realize how tired I was. 

I’ll be updating twitter/facebook during the day with statuses for my friends and family and hope to blog the day tonight (if I don’t fall asleep early again!)

Wow!  I can’t believe this day is finally here…

We are just a couple of hours away from heading to the airport to go to the NIH (National Institute of Health) and meet with Dr. Sidransky and her team.  As I mentioned yesterday, I really am nervous about the brain MRI and BAER test…the thought of sedation just freaks me out.  I keep telling myself that these are the best of the best doctors in the country.  They have dealt with this disease before, probably more than anyone.  They know what they are doing.

My “plan” is to twitter/facebook updates during the day, mostly for friends and family to keep up on what we are in the process of doing and how Hannah is handling everything.  I HOPE to be able to blog updates at night with more detail, but that really all depends on how tired we are, how the internet access works, and how Hannah is doing.  So, if you want updates, go to my twitter page at http://www.twitter.com/overloadedmama or if we are already “friends” on facebook, you can continue to check my profile.

Please, please let this be a positive experience…

The house is eerily quiet this morning.  My mom flew in from California on Friday afternoon and flew back with Ethan and Abigail yesterday.  I’m not used to so much quiet in this house! 

I will admit, I am getting very anxious about this trip to the NIH to meet with Dr. Sidransky and her team.  Our flight leaves in about 24 hours or so.

There are 14 different scheduled procedures for Hannah for the 4 days we will be there.  There are only two that really, really worry me — the brain MRI and the BAER study.  Both of these require Hannah to be sedated.  I know they know what they are doing, but with her vocal cord paralysis and breathing issues, this just makes it more dangerous. 

Argh….

Pam, Hannah’s physical therapist, put together a PT evaluation for Dr. Sidransky and her team at the NIH.  

Hannah Ostrea was seen for the initial Physical Therapy evaluation on May 06, 2009 here at the Texas Children’s Hospital HealthCenter Initially, Hannah was able to roll supine –> prone with SBA (stand by assist).  She was able to roll prone –> supine with min. assistance x 1. She was dependent on her caregiver to move in and out of the sitting position.  She was dependent on her caregiver to move in and out of the stance position.  She demonstrated Poor static sitting balance with a wide base of support.   She was reluctant to weight bear through the upper extremities while in the sitting position.  She required maximum support in the stance position.

     Hannah has made significant progress since starting PT.  Presently, she demonstrates Good dynamic sitting balance.  She demonstrates lateral balance reactions when in the sitting position.  She tolerates the quadruped position with min. assistance x 1. She is able to move sit to stand with CGA (contact guard assist) after correction of her foot placement.  Hannah wears Surestep SMO’s due to bilateral pronation of the forefoot.  She is now able to stand using upper extremity support without resting her upper body on a nearby stationary object.   She will take steps with HHA of 2. 

The most recent short-term goals for Hannah is for her to crawl reciprocally, pull to stand and walk with a weighted push toy.