Needing Hope

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.

Horrible appointment today…

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.

Oops, she did it again…

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!

The always nagging “trache” question

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.

Hannah is in Time Magazine!

Is It Time We Paid More Attention to Rare Diseases
http://www.time.com/time/health/article/0,8599,2012177,00.html
By FRANCES PERRAUDIN

When Hannah Ostrea was five months old, she was diagnosed with Gaucher’s disease, a genetic condition in which the body lacks the enzyme needed to break down a fatty waste product called glucocerebroside, leaving it toaccumulate in the body’s organs. The disease is painful, with the excess glucocerebroside impairing mobility and delaying growth. Hannah’s form of the disease, Neuronopathic Gaucher’s disease, also causes brain damage and eye movement disorders and makes swallowing difficult. Neuronopathic Gaucher’s affects less than 1 in 100,000 live births and the life expectancy of a sufferer is between two and 20 years — Hannah is now two. But because the medical community won’t dedicate time or money to an illness that affects so few, there is no cure on the horizon. “Unless you have a celebrity who has a personal interest in your disease or you have a ‘popular’ rare disease … there are no big foundations, large fundraisers, or even any interest in assistance,” says Hannah’s mother Carrie. “It’s so hard knowing that there is so little research out there for my daughter, and that because of this, we will likely lose her sooner rather than later.”

Everybody has heard of the world’s biggest killers: cancer, HIV, malaria. But what about Xeroderma pigmentosum, which causes sufferers to react violently to direct exposure to sunlight? Or Jeune Syndrome, a potentially fatal bone-growth disorder that restricts the expansion of organs. An estimated 250 million people worldwide suffer from rare diseases — the term for about 6,500 disorders, each of which, according to the official U.S. definition, affects fewer than 200,000 Americans. Around 8% of people will become afflicted with a rare disease at some point in their lives. Treating these diseases puts a burden on health services and living with them can destroy families — losing a loved one is a tragedy, no matter if it’s to cancer or Kawasaki disease, which causes the inflammation of the blood vessels. But because of the rarity of each condition, the number of patients in any one country is too small for experts to use for effective clinical research or raise significant awareness.(See how to prevent illness at any age.)

There have been efforts to address this problem before. The Orphan Drug Act passed in the U.S. in 1983, for example, gives tax incentives to companies that choose to develop such drugs, and grants them the right to sell the drugs without competition for seven years. But this is hardly a comprehensive fix. In the hopes of finally giving rare diseases the attention they deserve, Dr. Christopher Forrest of the University of Pennsylvania and colleagues from the Office of Rare Diseases Research at the National Institutes of Health recently put out a call for the establishment of a global rare-diseases registry. The idea would be to allow patients, clinicians and researchers who are scattered around the world to enter their own data on new therapies and practices, all in one place. The registry would also provide more accurate patient-population statistics, so that instead of trying to study a handful of sufferers in one country, scientists and drugs companies would have access to information from thousands of people affected by the same rare disorder, making it much easier to conduct research into their causes and cures. “Disease knows no boundaries,” Dr. Forrest tells TIME in an email. “Some rare diseases occur so infrequently that only by forming international populations can sufficient numbers of patients be accrued.”

Dr. Forrest says the registry’s primary goal would be to create an infrastructure to start tackling rare diseases — a necessary first step before trying to raise funding — and prod drug development. Persuading pharmaceutical companies to invest in developing orphan drugs has always been a struggle. Legislation similar to the 1983 U.S. law has been passed in the E.U., Australia and Japan. But developing new drugs can be expensive, and because rare diseases affect so few people, companies see little incentive in doing the necessary research

Recently, though, there have been signs that there could be money in orphan drugs. In early August, multi-national pharmaceutical company Sanofi-Aventis proposed a takeover of Genzyme, the world’s third-largest biotechnology company and specialist in orphan drugs. Sanofi reportedly offered $20 billion, but Genzyme is said to be unlikely to accept anything below $22 billion. The move shows that Big Pharma is beginning to see potential in a long-neglected market. “The rare disease market can be profitable in and of itself,” says Gary Pisano, a biotechnology industry expert at Harvard Business School. “Genzyme proved this. They were the first to recognize the commercial potential of these markets that had long been ignored because of the apparently small size.”

That sounds like good news for rare-disease sufferers. Still, the fact is that profits from orphan drugs are high partly due to the astronomical prices companies can demand for their treatments — with little or no competition, there’s no reason for them to keep prices down. Hannah’s parents rely on Cerezyme, Genzyme’s Gaucher disease drug, to treat their daughter’s illness. Costing more than $200,000 for a year’s supply, it is one of the most expensive drugs in the world and last year generated sales of $1.2 billion for Genzyme. With Carrie’s husband unemployed since February and Carrie having to stay home to look after Hannah, they are burning through their savings to pay for the medication. Billion-dollar deals are no help to them. But if the rare-diseases registry becomes a reality, that could be a big step towards tackling disorders that are devastating for the few who suffer from them. “Deep down I wish the general public would just recognize what families like ours live through on a daily basis,” Carries says. “And how rare disease affects each and everyone one of us down to the core.”

Recovery and Progress



About 10 days or so ago, Early Intervention came out to do their assessment of Hannah.  Though they didn’t use the same test that our service coordinator used in Texas, it was similar and showed the same results.  Hannah’s skills are still “scattered,” and she ‘rates’ between 8 months to 12 months old in all areas…physical development, adaptive behavior, cognition, communication, and heck, I forgot the last one.

But Hannah has progressed so dang much since she was released from the hospital the first time just 1-1/2 months ago.  She went from a baby who had no control over any of her movements, no strength, and could barely hold a pacifier in her mouth to a child who today is crawling all over the place, sitting up and playing, and eating baby food by spoon without any problems.  She still has some movements in her hands and arms, but that does not stop her from doing whatever she wants to do.

I can barely contain the smile on my face and the excitement in my heart every time we go to private therapy (3 times a week – OT, speech, and PT) and her therapist says “I can’t believe how much she has progressed in just 1 week!”

Even my mom, who has not seen Hannah in 3 weeks, saw her today (as she was picking Ethan and Abigail up to take them to Cali for the week) and noticed how much better Hannah is.  Not only does she look fuller because she has gained some weight and doesn’t look at skinny, but Hannah is doing so much more than when she last saw her.   Three weeks ago, my mom said she wasn’t crawling, and she wasn’t even trying to sit up by herself.

Now, Hannah is all over the place.  She has even gotten herself back to the point where she will crawl over to the couch and get up on her knees.  She tries to get her foot under to get to a stand, but she is just not there yet.  But I know that in just a few weeks or so, she will regain that strength too and will be cruising all over the place again.  My hope is that she can even start using her gait trainer in a month or so (her PT thinks it may even be sooner!).

What Hannah has pulled off after being in the hospital for 6+ weeks (28 days in the PICU) and was at the point where I feared for days that I would lose her  because she was so sick…to what she has done in just the 6+ weeks since being let out of the hospital.   Seriously, I don’t know if I could work at recovery as fast as she has — and she wants to, which I know is the key!

She wants to do so much, she pushes herself.   She does not like the trach and has pulled it out half-way twice, pulled out her g-tube mic-key button once, and she takes off her HME (the cover of the trach) at least 25 to 50 times a day.

She is AMAZING.

I took these pics of her today.  She was just sitting on one of her chairs with her toy desk, and she was just having a great time.

ER Visit and Tracheitis

So we ended up back in the ER today.

It all began last night when Hannah was sounded really junky in her trach.   On a normal day, we maybe suction her about 4 or 5 times in a 24-hour period (she is great at coughing out what is in her trachea).   Last night, I had to suction her at least 15 times within a few-hour period.  I stayed up late keeping an eye on her, and around 2 am she had woken up.  At around 3:30 am, I finally had to wake Daddy up to take over because I was just beyond exhausted.

After unsuccessfully trying to get her back to sleep, at 4 am he ended up taking her downstairs to the family room to just let her relax on him.  She napped for about 45 minutes more, but she still was incredibly junky and needed a lot of suctioning.

Our favorite nurse was with us today.  She came around 9 am.  Daddy had found a free place to take the kids (Spring Preserve for those locals), so they had taken off.  I was staying home with Hannah and our nurse because I had some studying to do.   Our nurse finally got Hannah to sleep around 10 am.    She slept quite peacefully, and we both commented on the lack of suctioning that we had to do this time.

Around 11:45 am, Hannah woke herself up with a harsh junky cough attack, and it required a lot of suctioning to get the gook out of her lungs.  I mean, a lot.  We both noticed that Hannah was having difficulty catching her breath after she was cleared out, and so I had placed a call to our pediatrician.  She was out of the office today, and the earliest we could see her resident was 3:30 pm.

Hannah was starting to have more respiratory distress, so I made the decision to head straight to the ER (our nurse agreed).   Like the three previous times we had been there, we were taken immediately into triage and given a room.

My biggest fear was that her pneumonia had come back.  After all, she is most susceptible to getting pneumonia again within 6 months of a previous bout, and we were only a month or so out of the hospital.

They did chest xrays, blood work (the only abnormality was her WBCs which were 18,800 which means infection), and they took a urine sample and trach culture.  The only results not available were the trach culture, which is going to take a few days.  They also had given her Tylenol because her fever hit 102.9 from 101.1 just an hour earlier in triage.

The good news is it is not pneumonia!  Her lungs looked good.  It is likely tracheitis (infection of the trachea), which kids with trachs are apparently more susceptible to.  The doctor (who recognized us, as she was the same ER doc when Hannah had her cellulitis) decided to give her about two hours worth of IV fluids and IV Rocephin before discharging us.   They gave us a prescription of augmentin b.i.d. for the infection.  This is an antibiotic that covers a lot of different bugs, so hopefully when we get the culture and sensitivities back from her trach sample, it will be covered with the augmentin.

I was so nervous that Hannah would have to be admitted again.  We had never made it to the ER discharge office since we had been to Vegas.  So when she said “No admittance this time,” my heart jumped for joy!

It is going to be another long night, as Hannah still is really junky as she sleeps.  It is about midnight now, and she has had to be suctioned almost 10 times in a 3-hour period.  My hope is to stay awake until around 4 am again and then Daddy is going to take over (he went to be early tonight).  I don’t feel comfortable with both of us sleeping with her being this congested.

What I would give for night nursing tonight….  but that is another story for another day…

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