We met with Dr. Schroeder, Hannah’s new ENT today. I immediately liked his business-like, yet easygoing demeanor.

We talked about Hannah’s situation, why she was trached, what happened when the trach came out (breathing wise), etc. We talked about how Gaucher’s disease causes airway issues in many of its type 2 children and some type 3. We discussed how Hannah is really a hybrid of both types. We talked about her swallow studies and her problem with her gag reflex and solid foods. We talked about her breath-holding spells with her tantrums.

It was nice just getting everything out in the open and lay everything on the table. That way, when I brought up the topic of decannulization, there would be no surprises and nothing hidden.

Dr. Schroeder is very open to the discussion of the possibility, especially in light of the fact that she was not trached for airway issues but because of over sedation. He made the comment that he usually does not like to talk about decannulization until a child is 3 years old or 30 pounds, but Hannah’s situation is unique (both in terms of her Gaucher’s and her reason for trach), so he would be open to it.

He also asked me which pulmonologist we are working with. I told him that we have an appointment with Dr. Nakamura next week, and I explained to him what happened with the other pulmonologist. Funny thing, he was not surprised at all that the other pulmologist was so dead set in his no-trach-removal stance.

He understood my feelings that I want to give Hannah as much freedom with her life for as long as she can tolerate. Even if it means being trach-free for just one year, that will be one year of swimming, going to the beach, fun bathtime, and less machines and medical care. Time is very precious with her, and I want her to enjoy it and keeping smiling as long as possible.

He was glad we are meeting with Dr. Nakamura because he “has worked on many cases like this with him, and they work well as a team together.” Words an anxious mom wants to hear!

So the plan is this…

We meet with Dr. Nakamura next Friday. He will see how Hannah’s lung function is and other related issues. Then, if he is on board with the trach removal (because he feels it is safe to do so), then we will move towards the final step…the operating room. In the OR, the ENT will do a bronchoscopy and see how Hannah’s airway physically is, and the pulmologist will look at whatever he needs to look at. If they both feel that it is safe for Hannah, and they feel that she will be successful with the trach out, then we get her ready for it! I’m not sure if they do it later that day (after the sedation wears off) or another time, but they will bring us to the hospital, pull out the trach, and it is done!

The ENT wants to keep her in the hospital overnight as a precaution (especially to keep an eye on her O2 sats while she is sleeping). I actually welcome that because I would rather be safe than sorry.

What really is comforting is that our new ENT and new pulmonologist (hopefully) will be taking all precautions to make sure this is the right decision for Hannah. If for some reason they feel that it is not safe to take out the trach because of her breathing tolerance or bad timing (ENT mentioned that the pulmologist may want to wait until after RSV season this winter), then I will feel that at least we are taking the right steps to make sure this decision is the right one.

As our ENT said in our appointment today — our goal is to keep the trach out for good and not to have to have it go back in right away if it can be avoided. I really feel that this is the right approach.

During the entire month of September, I will dedicate my time to raising awareness for all children who suffer from rare diseases and have no treatments or cures in sight.

According to the National Institutes of Health (NIH), there are approximately 7,000 different rare diseases affecting approximately 15 million children in the United States. This statistic does not take into account the number of children affected with rare disease in the Europe Union or around the world.

According to the FDA, over the past 25 years and since the passing of the Orphan Drug Act in 1983, we’ve had approximately 350 new drugs brought to market for all 7000 rare disorders despite the incentives by the federal government.

Think about this for a moment. 7,000 rare conditions. 15 million rare children in the United States. And only 350 new drugs for rare disease in 25 years? These are mind blowing statistics by any measure.

The Children’s Rare Disease Network and The Global Genes Project are inviting the public to ‘Vote for Hope’ at the Pepsi Refresh Project to kickstart treatments and cures for the millions of kids who suffer from various forms of rare diseases.  There is no better time than now to “Refresh Rare Disease.”

The Pepsi Refresh ‘Vote For Hope’ Rare Disease campaign begins September 1-30 and is designed to drive awareness for the unmet medical needs of the global rare disease community and to encourage pharmaceutical and biotech companies to get more involved in creating treatments for rare diseases.

The Global Genes team hopes for a chance at winning $250,000 to continue the Foundation’s efforts to bring awareness to the issues surrounding the lack of treatments for rare disease and intends to build a platform to help drive “cures in the lifetime of a child.”

That’s exactly what I want — treatments now for Hannah and for other kids suffering from debilitating and life threatening conditions such as Batten, Niemann Pick type C, Progeria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Fragile X, Williams Syndrome, Canavan disease, Joubert Syndrome, Epidermous Bullosa, Medulloblastoma, Ewing’s Sarcoma, Wilms’ Tumor, Krabbe disease, Pompe disease and Giant Axonal Neuropathy.

And that’s only a list of 17 of the 7000 rare conditions affecting children.

From rare neurodegenerative disorders to rare cancers to rare bone diseases, parents and families just like mine are all fighting for the same thing for our children – treatments and cures to keep them happy, out of pain, and most of all, alive.

Please join me during the month of September and take time out of your day to Vote4Hope at the Pepsi Refresh Project.

Millions of kids like Hannah are counting on us to show the world and Time Magazine that, “It Is Time We Paid A Lot More Attention To Rare.”

• Join the Facebook Vote4Hope team here

• Get a Vote4Hope Badge here

• Vote Now For Vote4Hope On Pepsi Refresh

I’ve been feeling a bit down since the meeting with the pulmonologist last week.   It was not just that incident, but it was the straw that is starting to break my back.   Just a reality check upon reality check upon reality check.

Hannah’s disease is progressing.

She has developed ‘acquired nystagmus’ (horizontal involuntary eye shaking) in her left eye.   Listed as a symptom of neuronopathic Gaucher disease.   It is very unusual that it is just in one eye, but Hannah never does things by the book.  What concerns me is that from what I have read about nystagmus, it could also cause vision problems.  Until this, Hannah’s vision acuity had always been good.  It was her ocular motor apraxia and supranuclear gaze palsy (abnormal eye movements) that were such a problem for her.

Hannah aspirated on chocolate pudding tonight, just a little bit.  We had been working on meltable foods for the past few weeks, and she has been loving it.  Opening her mouth big and wide for us to put a spoon in, so excited when she gets new tastes like stage 2 fruits and veggies, cotton candy, puff cheetos, ice cream, etc.  Tonight, when she was eating pudding, she was laughing and getting really excited eating, taking a huge bite, and she had a big cough soon after.    Next thing I see is a tinge of chocolate-covered secretions coming through her trach and HME.  I was crushed.  It was not a huge amount, and obviously she was able to cough it out because when I suctioned her, there was no more to come out.  Lesson to me:  Stick with very small bites when feeding by spoon, I guess.

Then, there is Hannah’s developmental delays.   She is still in a 9- to 12-month-old’s brain and has been for a year now with so very little change.  I am so thankful she does not know any better because she is just happy all the time playing with the same toys she has been playing with for almost a year.   Even with therapies, there is so little that we have moved forward on.  Hannah’s OT suggested we let her help take her shoes off, and when I heard that, all I could think of was that she does not even try to get to her shoes or even know that they are on.

At dinner tonight, Daddy and Abigail were having dinner together (since Hannah can’t sit at the table just yet, I had to be with her in the other room).  Daddy told me that they were talking about something, and Abby made the comment that she was so glad that Hannah didn’t die while she was hospitalized.  Daddy asked me later that night if I had ever said anything to Abby, and my answer was “hell no!”   We never told Ethan and Abigail how serious Hannah’s hospitalization truly was … we always said that she got “really sick,” but that was the extent of it.   So where did Abigail get this idea in her head?  Did she hear it from someone else?  Or, and this is more likely, is she just more intuitive than we thought at 6 years old?   We never even told her that Hannah’s disease was life-limiting, but obviously it is something that she has thought about.

And then there is Addy and Olivia (Hannah’s soul sister), two beautiful girls who are both diagnosed with type 2.   Addy is going to be 2, and Olivia is just a few months younger.   I have known these girls and their moms for the past year, and I have grown quite attached to them.  Each time I hear that they are going to the hospital, my heart breaks, and it is all I can do to wait for another update from their mom just to know that they are stable so I can breathe.    Especially little Olivia, who looks just Hannah (which is why we call them soul sisters)… I just want them to be okay.  They deserve to be okay!

Lastly, all of the appointments, the therapies.  I found a new pulmonologist who we are meeting next week, and we meet with Hannah’s new ENT this week.   Plus her Cerezyme treatments (of which this latest dose is going to be 5 days late because of Genzyme’s 2-per-month rule).

I hate this frickin’ disease.   I know having a pity party breakdown right now is not going to change anything.   I know I need to focus on the positives and trying to make more positive changes.   But right now, I am just feeling incredibly defeated by so many things in our lives — this disease, our financial situation (Daddy’s unemployment and our TX house still on the market), my lack of taking care of myself (I know, my fault), and just trying to find some sense of normalcy in our lives.

I just have to keep focusing on Hannah’s smiles.  That is what keeps me going every day.

We had our meeting with the pulmonologist today.   I knew from Daddy’s meeting with him 6 weeks or so ago that this doctor was going to be very conservative about the talk of getting rid of the trach.  So I came into the appointment with the mindset to just have him understand our point of view on why we want to discuss the possibility of decannulization.

He was a nice enough doctor, older, gray-haired.

I told him about what happened when Hannah pulled out her trach yesterday and how I called his office yesterday and the receptionist said that there were only general pediatric residents available, no one who was really familiar with trachs and what to do when we had to put in a smaller one, etc.    The doctor immediately got pissed off and said “Excuse me,” and left the room.  Hannah’s nurse and I were sitting in the room thinking “what the heck?” and we heard him reprimanding his nurse because I guess she was not available when I called (I had gotten her voice mail and didn’t leave a message, pressed zero to talk to someone).    The nurse came in and apologized profusely and told me in the future to have her paged if this happens again.

Next thing he said was that we should have taken Hannah to the ER immediately if we could not get the right trach size back in and that the hole was probably closed up now around the new 3.0.  He doesn’t like keeping Hannah on the 3.0 because it is a smaller cannula, and with the amount of junk she gets at times, it could get clogged.  Fair enough.

I brought up the topic of decannulization, and I swear that he changed personality.   He was so set in his thought process that Hannah will never be decannulized because of the POSSIBILITY of her Gaucher progression affecting her airway.   He made the comment “I already told your husband that it is not something we should consider.”   EXCUSE ME?   I was completely taken aback by his change in attitude.

The conversation continued like this:

Me:  “I really would like to consider the possibility since Hannah was trached not because of airway issues but because she was oversedated when she was intubated.”

Doctor:  “Even despite her prognosis, she had airway issues which is why her extubation failed numerous times before she was trached.”

Me:  “She did not have any airway issues before she was trached.  Again, she was trached because they could not get her off sedation enough to maintain her breathing on her own.”

Doctor:  (Blowing me off and ignoring my reiteration) “I have the notes here as to why she needed to be trached.   Besides, her tonsils are so big, she would have breathing problems as well with that.”

I looked at Hannah’s nurse who was with us, and she and I just looked at each other like “Are you friggin’ kidding me?”   It was obvious that he would not even consider the possibility, so I decided to drop the subject for now.

Because I wanted to get Hannah a passy muir valve (so she could learn to use her voice), I just dropped it for the time being and talked about getting her a passy muir valve (which will hopefully be ordered tomorrow).   He also made the comment that he wanted to get Hannah in to see her new ENT sooner than next Friday to try and get the 3.5 trach in (might require outpatient surgery/sedation).

I left the appointment SO FRIGGIN’ ANGRY.   The doctor just totally blew off my request, as he already had his mind up.  He never looked at Hannah as the patient, he just saw “neuronopathic Gaucher’s disease” and that was it.  It does not matter that she has a history of a unique presentation of the disease, it does not matter that she has had no lung issues whatsoever at this point, and it does not matter that her airway issues (vocal cord paresis and laryngomalacia) have significantly improved in the past year!

I felt like I was treated as a mom who knows nothing about my daughter’s medical condition.    He would not even engage in a conversation about Hannah herself!

I got home from the appointment, and I called the ENT’s office to see if we could see him sooner than 9/3.   He wasn’t available, but his partner was available to see Hannah to try and get the trach in tomorrow morning.   We are going to keep the appointment on 9/3 with the ENT I wanted to use.

Dr. Roy, Hannah’s Houston ENT (and one of Hannah’s guardian angels), has a conference call set up with this new ENT on Monday to discuss Hannah’s case.   Fortunately, Dr. Roy is also of the same mindset that I am that if Hannah does not need the trach now then take it out.   You don’t trach a child because of a possible problem proactively if there are no issues even leading that way.

I also set up an new patient appointment with the other pediatric pulmonologist in town for next week.   There are only two in this town, and I just do not feel comfortable going back to this doctor.   I hope this doctor will, at the very least, give me the opportunity to discuss how I feel about the situation, even if he feels strongly that she needs to remained trach.   I just hope that this doctor will be open-minded, that is the key.  I hope, hope, hope that he is not like this other doctor.

I know that removing the trach may not be an option.  But I want it to be because HANNAH, the person, needs the trach.  Not because she has a diagnosis that may likely lead to an eventual trach so let’s not even consider it.  Better safe than sorry is one thing but so is quality of life.   If she needs to keep the trach in (and she may very well need to), then I want to be comfortable that it really is the right decision for her.

It is my right, as Hannah’s parent, to be involved in the decision to keep the trach or not.   I am a smart enough mom, more educated on Gaucher’s disease than he is.  He needs me and my experience and knowledge on Gaucher’s as much as I need him.  He is the first doctor I have met since Hannah was born that has not treated our care of Hannah as a partnership.

Hopefully tomorrow will go better.

So Hannah was playing with her toys, and her nurse (who we really like) was sitting just about 5 feet away.  At some point within a 10-minute period, Hannah completely pulled out her trach again.   The nurse didn’t notice because Hannah wasn’t having any breathing difficulties and her back was turned to the nurse.

Just like a few days ago, we couldn’t get the 3.5 size in so we put in the 3.0. size until she calmed down a couple of minutes later.  But this time, we could not get the 3.5 size back in.  Towards the end of the cannula, it seems to stop as if something is in its way.  It also causes Hannah to cry out, and there is a bit of blood-tinged secretions — we are thinking she must have gotten some kind of irritation when she pulled it out.

I called the pulmonologists office (who “handles” the trach kids here), and of course there was no one available to see us that afternoon.  (It is a clinic, and he is the only pulmonologist — there were only residents available, and truthfully, I don’t think they would know what to do anymore than we would!).  So we kept the 3.0 in.

Like before, Hannah had no breathing issues whatsoever when the trach was out nor now that she has the 3.0, the smaller size.

Fortunately, we have an appointment with the pulmonologist (set 6 weeks ago) for tomorrow afternoon, so I am very curious as to how this is going to play out.  I know he is of the mindset that “Well, she has Gaucher’s so let us not take the trach out because she MAY need it someday.”    But I’m hoping that tomorrow he will see how much better she has recovered and will actually listen to my concerns and what I want.

But I am a bit nervous.  As much as I want this trach out for Hannah, I want it done safely.  I want to feel comfortable that it is the right time and the right way is being done.  I don’t want to cause her any damage or put her in danger, you know?

We have to keep such a closer eye on her now.  When she gets annoyed with her trach, she will really tug at it now.  Unless we completely choke her with the trach ties, she will find a way to get it out it seems.  She has done it twice in a week.  VERY nerve-wracking!

I’m VERY anxious as to what tomorrow’s appointment will bring!

It is no surprise to my friends here that I absolutely HATE the fact that Hannah had to be trached after this past hospitalization.  We had been able to avoid a trach since she was 8 months old and then she had to be trached, NOT because of her Gaucher’s disease, but because she could not be extubated because she was oversedated.

Hannah is not a fan either.  She pulls at the HME (the plastic covering on the trach) at least 100 times a day, most of the time taking it off and tossing it aside.  Other times, she tries to pull out her trach from under the collar.  Twice she has pulled it out halfway, and fortunately, I was able to get it back in without any issue.

Last night, we were watching TV.  Daddy looked down at Hannah resting on the floor, and he noticed that her trach was completely out.  She had taken the entire thing out!   After a few minutes, we were not able to get her 3.5 Shiley in, so we grabbed the 3.0 Shiley (smaller).  We were able to get that one in without any problems.  Then, we were able to put back the 3.5 Shiley.

The entire time Hannah was “decannulated” (without a trach), she was completely fine!   No breathing distress whatsoever, even though the stoma (hole) was covered while we were trying to get her trach back in.  She was breathing through her nose and mouth.  Honestly, we looked at her for about 30 seconds while the trach was out, and she was still playing with her toys in her hand, lying on her back, not realizing anything was different.

She was able to breathe normally without the trach.  What is especially notable was that after those first couple of minutes, the stoma was completely covered by excess tissue (which is why it was hard to get it back in at first).  It was awesome to see her breathing without any distress.

In the next two weeks we meet with her pulmonologist and her new ENT.  Her pulmonologist seems to be a very conservative guy, as we get the feeling that he feels that we should keep the trach in because she MAY need it in the future because of her Gaucher’s Disease.

I’m not a fan of that philosophy.  Hannah’s two favorite activities are limited by her trach — swimming and bath time.  If I could give her back those two activities that she loves, even if it is just for 6 months to a year (in case she needs the trach in the future), then I want to give it to her.  It would be one thing if Hannah’s condition was not as life-limiting — then we could take our time on the trach issue.  But unfortunately, it is life-limiting.  And while she is able to breathe freely on her own, without any airway issues like laryngospasms, etc, then I want her to have the time for as long as she can.

Obviously, I will in no way put her life in jeopardy to get this trach out.  If it turns out that she truly does need it now, then so be it.   But if we do have to keep it, I want it to be because she needs it not because she MAY need it at some point.