She made it! NOW we know…

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!