One of the biggest question marks is whether or not to remove her trach this spring.  Between her local ENT and her local pulmo, we really are getting no true guidance on what to do.  Both of them are “Sure, let’s do it,” which is great they are willing to consider it, especially after our first pulmo here who adamantly refused to even consider it just because she has Gaucher’s.  But the problem is that they are just looking at Hannah and how she is now, not really understand our concerns and where we have been with this trach issue.

Looking back, to trach or not to trach has, by far, been our biggest decision and biggest conflict since she was 8 months old!   Not only do we have the potential swallowing issues brought on by her Gaucher’s as well as the laryngospasms and other pulmo issues, but Hannah also had prolonged laryngomalacia and vocal cord paresis (weakness).

When we met Dr. Roy from UT Houston (after her first ENT wanted to trach her at 8 months), he was a godsend.  He was the first non-Gaucher specialist who dove into research about ENT stuff and Gaucher’s and monitored her very closely for all of those Gaucher-related items.  He helped us hold off on the trach as long as we could.  (If it wasn’t for her oversedation this summer, I wonder if she still would be trach free!).   He also was a huge personal support system for me while Hannah was hospitalized this summer when Daddy and the kids moved to Vegas — offering to bring me dinner at night, buy me some clothes (since I was wearing the same 4 shirts for 6 weeks), and most of all rearranging his surgery schedule in order to get Hannah’s trach the day after we decided instead of keeping her intubated through the weekend.   Just a good, caring, and compassionate man.

He and I have kept in touch by phone and email since we moved to Nevada, and he gives me an outlet to express my frustration about this whole process here and the lack of caring and knowledgable support.    This past weekend, he asked me if her ENT here had done a bronchoscopy or scope since he last did in Houston because he believes she needs to be closely monitored even still.   Of course, nothing has been done here.

I shared with him how Dr. Bernstein is contracting some of the best specialists in the world to come to Nevada to see complicated kids like Hannah.  (He has already contracted with one of the top Gaucher docs to come out a few times a year, and we have already met with him twice).   Even though I know Dr. Roy’s schedule is incredibly crazy, I asked him if he would consider coming out and joining Dr. Bernstein’s visiting physicians group so that he could continue Hannah’s care.

Honestly, I expected a “thank you but I just can’t.”   I mean, asking one of the top pediatric ENTs in the country who also run the ENT program for one of Houston’s largest children’s hospital to come out a few times a year to come see Hannah and other complicated patients is just a HUGE request.   But I felt I had to ask because if I don’t at least ask, then there would never be a possibility.

He said, “Yes!”   He said he would love to join Dr. Bernstein’s group and continue to manage Hannah’s care.  He asked me to forward his info to Dr. Bernstein to get the conversation started.

When I read his response, you should have seen my face.  I was thrilled!   All of a sudden I felt this overwhelming sense of relief that Hannah may finally get someone back in her life who truly is looking out for what is best for her, especially in the specialty that is so critical with her form of Gaucher’s disease.   With Dr. Roy back in our lives as a primary for Hannah’s care, I won’t feel like we have to make all the decisions on the trach because I completely trust his guidance.

I’m not getting my hopes up, but I hope it works out.   But whether or not it does (I don’t know how contracting visiting physicians would work as well as licensing and all that stuff), I’m just so touched that Dr. Roy cares so much about Hannah to be willing to come to Vegas from Houston to make sure that she gets the type of care that she so desperately needs.

Hannah's EEG - Nov 2010

Hannah had her EEG today at her new neuro’s office.

The past 5 EEGs she has had, including her 24-hour EEG in the PICU this summer, had all comed back normal.

Today’s was not normal.

Hannah had fallen asleep pretty much immediately after the test began, so they were able to get a clean EEG.  Once she had fallen into a deeper sleep, her nurse and I noticed the seizures on the screen.  The EEG tech also confirmed they were seizures (even though she was not supposed to).  They were happening every 30 seconds or so towards the end of testing when she was in a deeper sleep.

The interesting thing was that what we thought was Hannah’s movements from her movement disorder during her sleep was actually seizure activity.  Every time Hannah twitched in her sleep, a seizure was noticed on the EEG (see pic on the left side – that is a seizure).

What this means?  Progression, obviously.  However to what extent is what needs to be researched.  We meet with the neuro on 12/3 to come up with a game plan.  She is already on Keppra so does that mean the Keppra has been blocking some of the seizure activity perhaps, maybe not?

I talked to Dr. Goker-Alpan, Hannah’s pediatrician from the NIH, today afterwards.  She reassured me that these seizures are somewhat common in type 3 patients and are not as worrisome as I felt they were.  The fact that she is not becoming hypoxic, her O2 saturations don’t drop, and she does not have any shaking activity means that it is not as intense as I feared.  I’m going to send her and her other specialists a copy of the EEG report when I get it.

Progressive myoclonic epilepsy is documented in kids with neuronopathic Gaucher disease.   After reading the description on Wikipedia, it sounds like it could match the symptoms Hannah has.  “Myoclonic seizures involve brief involuntary muscle twitching, and may become frequent enough to be disabling….Tonic-clonic seizures have two phases: the tonic phase may last a few seconds and involves the muscles tensing, and may lead to the person falling down; the clonic phase involves a convulsion of rapidly alternating muscle tensing and relaxing. Neurological dysfunction includes difficulty coordinating muscle movements (ataxia) and a decline in cognitive ability (dementia).”

Regardless, it just sucks.

She modified our current plan of action, and it all makes perfect sense to me, especially after she educated me more on the Klonopin that Hannah has been using to control her movement disorder.  Apparently, Klonopin is another benzo drug, just like the ones we had been trying to wean her from!  Not only that, but Klonopin also increases secretions — not something that makes a lot of sense to give for a newly trached baby!

So she started Hannah on haloperidol this evening – 0.125 mL at night for 3 nights and then twice a day.  This is exactly the same drug that my uncle, who is a pharmacologist, suggested that the docs at Texas Children’s Hospital try to control her movement disorder.   After researching it online, there is a lot of resources that mention it is used specifically as a treatment for chorea.   We have to keep a close eye on her (not that we aren’t already doing so) to look out for side effects.

But the “hope” is that this drug may knock out her movement disorder once we find the right dosage.    If it does help, then we will start to wean down the Klonopin as soon as we are done weaning down the chloral hydrate (which should be in about 10 days).

Our long-term hope is that once all those meds are out of her system then her chorea movements will subside on its own and we can wean her from all medications.

I am to call Dr. Maller in a week to give her an update, and we are to see her again in 2 weeks for a follow up.

Keeping my fingers crossed….

Yesterday, Hannah had her GI appointment with Dr. Dezenberg.   Our day nurse came with me, and she was a huge help!    After meeting Dr. D yesterday and meeting his partner, Dr. Barron, a few days earlier in the hospital, it was another great “personality” match for us.    He checked Hannah’s G-tube, and he said it was really look great, healing-wise.  He had to burn off some of the granulated tissue surrounding it with some silver nitrate, but since it was slow healing he prescribed us a couple of ointments to get it healing a bit better.

But he thinks that we could definitely start getting Hannah on her tummy again, with monitoring of course!  We also talked about a new feeding schedule since her stomach is still thrashed from the rotavirus and has not been able to keep foods down like she was last week.  So she is going to be pretty much on a continuous feed, 5 hours on with 1 hour off, at a very slow rate until we can build her up again.  So far since this afternoon, she has been tolerating it pretty well.

The rest of our schedule is like this:
Today:  Neurology, Dr. Maller
Tuesday:  Pulmonology, Dr. Parks
Wednesday:  Speech and OT evaluation at a private therapy group
Next Friday:  Meet our new pediatrician, Dr. Larsen
Following Monday:  PT evaluation with private therapy group
Few weeks:  Evaluation with Early Intervention

I’m very interested in what Dr. Maller has to say, especially with regards to this choreathetoid movement disorder.  I’m also need to find time to really start searching out an expert on choreathetoid movements and see what is out there for Hannah because there just has to be something out there that can help her.  If anyone has any suggestions or knows of anyone, let me know!

Hannah had her echocardiogram and EKG done.  Her EKG looked normal, and her echocardiogram shows that her “slightly dilated aorta” is still just that — slightly dilated.  Dr. Jeffries, Hannah’s cardiogeneticist, put it into perspective.  The high-normal is 1.77 cm of thickness.  Hannah’s aorta is 1.80 cm — just 0.03 larger than the high end of normal!  It also has not increased since the last echocardiogram done 6 months ago.

This is great news.  He would like to have a cardiac MRI done just as a baseline at some point in the next few months knowing that cardiac issues may arise with Hannah’s D409H genetic mutation.

Also, her patent foramen ovale (hole) is still as it was before.  Probably a congenital defect, not related to her disease.  However, it is not causing any problems, so he does not see the need to surgically close it as of yet.

But other than that, it is “see you in 6 to 9 months!”

Hannah getting an echocardiogram at the NIH

We have our 6-month followup with the Dr. Jeffries, Hannah’s cardiologist over at TCH.   During her last visit, it was noted that her aorta was slightly dilated and that she had a patent foramen ovale.

There is a part of me that is not as concerned about cardiac issues because that is not a normal path of nGD.  However, the not-so-naive part of me says that Hannah has strayed in many different ways from the normal path of nGD and also carries one mutation of the D409H mutation which may carry cardiac issues.

Thursday Hannah is going to have another EKG and echocardiogram, and it should give us a good idea of where her heart issues stand.

From October 2009: 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.

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!

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).

• 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.

I’m not expecting any real surprises, but honestly, that is what I am anxious about.  Hannah is known to surprise us and throw things into the mix, so I don’t want any surprises.  I know that she is doing another EEG, BAER study, meeting with PT/OT, having another abdominal ultrasound and/or CT scan, and a couple other things.  Nothing as drastic as having to be sedated for an MRI or having to deal with an IV this time, thank goodness!

I’m looking forward to seeing Dr. Sidransky, Dr. Goker-Alpan, and Catherine, their coordinator.   They are such wonderful, down-to-earth, and caring specialists.  We really felt like they were taking a personal interest in Hannah, spent quality time with our family, that she was just not another number.

What do I hope to leave this visit with?  Good news.   But honestly, I just want to know exactly how Hannah is doing in relation to this disease.  They are the ones who can tell us this more than anyone (even continuing our “no prognosis at this point” is good news!)