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.

I have been soul searching and trying to figure out why this probably tracheostomy need is eating at me.  After talking to a couple of friends and reading thoughts from other moms who have gone through this, I know what it is.

Denial is a beautiful thing.  I remember at the Texas Parent 2 Parent conference’s grief session, the woman running the session commented how being able to be in denial at times just makes everything else survivable. 

Right now, Hannah is a medical-equipment-free special needs child.   With the exception of her braces, which honestly I consider such a benign piece of equipment, no one looking at her would know that she is affected by this horrible fatal disease.    She just looks like any other beautiful baby girl you would see on the street.   No one really sees a special needs child.

Even more so, *I* get to feel like she is any other beautiful baby girl on the street.  The way she acts, smiles, rolls over to find me, etc., she is just like any other child.   I get to live in denial for many hours a day that anything is wrong with her or very minor things that are wrong.   For those many hours, I don’t feel like I have a child who may only be with me a few more months to a few years.

However, having to put in a tracheostomy will kill my freedom of being able to be in denial about what is happening to her.  It will be a constant visual reminder every moment of every day that she is losing this battle with Gaucher’s disease, that this disease is affecting her more and more.  

As long as she is without the trach, I feel that there is still the possibility that something may come up to save her life, that I will find something or  someone to help her, something to stop or even reverse the damange this disease has caused.  

It is almost as if this trach is the “fine line” between hope and loss.   It is also as if this trach is the “reality check” that we have to face with sharing with Abigail and Ethan about how serious Hannah’s condition is because they don’t know of any other child with a trach. 

I know that I will get used to the physical act of taking care of her with the trach, I know that.  I know that the trach will improve her quality of life since she is still learning new skills and still is an active and coherent child.   

I need to be able to continue to have my many hours a day of denial right now.  I’m not stupid, I know what the future will hold, which is why I need as much “denial time” now to really allow the freedom of having a somewhat normal family for Ethan and Abby and even ourselves.  

Because once we are no longer able to live in denial about this, I am afraid of falling apart and losing it.    I mean, seriously losing it.  I just can’t afford to do that.

So, that is what it is.   I so don’t want to be faced with having to do this.   I’m so scared about the emotional fallout from myself, my husband, my kids, and our families and friends once we have to cross that line.

There is so much to talk about, but I just don’t have the real desire to do so right now.  I will most likely elaborate at a later date, but I want to make sure that I put it here so that I remember to do just that.

Audiology appointment yesterday was fine.  Hannah’s peripheral hearing was fine, and her middle and inner ears are clear.  The audiologist offered to do a non-sedated ABR on Hannah to see how hearing is since Gaucher’s disease affects the hearing in the respect that what she hears and what is actually being heard become two separate things.  Basically, it would be like me saying “Hello, how is your day” and you hearing “Heshkok, felso difm wsh.”   We were originally going to do one back in February, the normal sedative kind, but we just had too many concerns about sedation.  I have a feeling we may be doing  one at the NIH next week, so we may get answers on that then.

The Parkinson’s doctor appointment went well.  It wasn’t exactly as I had hoped, but they were very open to my concerns, and he was open to looking at possible treatments for some of Hannah’s neuro issues from a different perspective, his perspective.  He was aware of the recent link, but he admitted that there is so much that has to be looked at.   He asked if he could take a video of Hannah, and he is going to present her and her case to his Parkinson’s group at their weekly meeting next week to see if anyone has any suggestions or ideas on how to get more involved.  They agreed to be part of Hannah’s “team,” which is a great thing.

NIH Visit.  Getting ready for that next week.  We leave Monday morning.  Had a horrible time getting the medical records from TCH.  Requested them 5 weeks ago, confirmed they had it 3 weeks ago, apparently “never had it” 2 weeks ago.  Went to the office after Hannah’s last Cerezyme treatment on 6/29 and paid for a RUSH service and filled out a new form.  Called yesterday, and they couldn’t find it, and the manager had “gone home already.”  Called first thing this morning, and they couldn’t find it again.  I faxed over the receipt, and the manager said she would have it done immediately and that we could come pick it up at noon.  Daddy went over there at noon, picked up the book of Hannah’s records, and sent them FedEx to the NIH this afternoon.

Getting the kids ready for California.  Mom comes in Friday night.  I’m looking forward to seeing “my mommy.”  She, Ethan, and Abigail leave Saturday afternoon. 

Hannah’s first birthday party plans.  Since we will be in California for her actual birthday on 7/25, we are having her party the weekend after here at home.  I’m so looking forward to this.  More than anyone can possibly imagine.  After yesterday, I just keep hoping to keep her trach-free for her birthday.

As for the trach issue, I still don’t really want to talk about it.  I know, me not want to talk about something.  But I decided to wait to see what the evaluation at the NIH says about the issue before really getting obsessed with depression over this.

  I know, there is so much to update on, but I think I can only handle talking about one thing at a time today.

We had Hannah’s followup with her ENT.  I shared with her about Hannah’s hyperventilation episode as well as how she gets out of breath when being very active.   We also talked about how Hannah really can’t cry very well anymore without getting winded.  The term I re-learned today is called “stridor.”

Immediately she wanted to do a laryngoscopy.  I just remember Hannah’s first time, and it was still horrible the second time around. 

Long story short, she diagnosed Hannah with dual vocal cord paralysis, meaning both of her vocal cords are paralyzed in the closed position for the most part.  Not completely, as she doesn’t have stridor issues when she is at rest and many times while she is sleeping.  Because it is a neuromuscular problem (her Gaucher disease is the cause), the odds of it becoming better any time soon is pretty non existant.

She wants to prepare us for a tracheostomy.  She was pretty adamant that Hannah is going to need a trach to protect her airway and her breathing, sooner than later.  Not necessarily today but in the near future. 

I talked to Dr. B., Hannah’s pediatrician, and he also agreed with the ENT’s assessment (she called him this afternoon to discuss Hannah), as he has been concerned about it to.  The only bright part (if there is one) is that this is probably the reason she hasn’t aspirated her foods and has staved off aspiration pneumonia.

I’m not ready to share my feelings on this right now outside of saying that this is just breaking my heart.  It is all I can do just to share it with all of you.

Thank goodness Daddy has Monday off because it is going to be a crazy one. 

Monday morning, Hannah has an appointment with the audiologist and then her ENT doctor, Dr. Larrier. Originally, it was scheduled a couple of months ago just as a follow up for her ear infection, but now it is going to end up being a bit more in depth because of Hannah’s breathing issues, which Dr. B., Hannah’s pediatrician, attributes to airway issues.

Hannah’s lungs have always sounded clear when we have any appointments (minimum of one a month), so we know that she has never had any aspiration pneumonia or anything. We also know that she has had laryngomalacia in the past, and we also know that swallow/breathing issues are one of the symptoms of her disease.

I admit I’m a bit nervous as to what she is going to tell us, but I know that we “need to know.”  We aren’t anywhere near needing a tracheostomy or anything like that yet, I don’t think, since 99% of the time Hannah has no breathing issues at all (outside of getting out of breath when exerting herself a lot).   Keeping my fingers crossed.

Then after those two appointments, we head downtown to meet with Dr. Ondo, the associate director of Baylor Universities Parkinson’s Disease Clinic.  

• My “hope” is that he will do an evaluation of Hannah and her symptoms as an evaluation for Parkinson’s disease to see if there are truly any commonalities.
• My”dream” is that he would be enthusiastic to learn more about the PD and GD connection and get involved with this type of research with me and the others who I am working with. 
• My “fear” is that we leave there with even less of a connection between PD and GD — but, if that is the case, at least I will know!

And that is just the beginning of the week.  We still have dev therapy, physical therapy, occupational therapy, an orthotics check, a rescheduled Cerezyme appointment, and my mom coming into town to get ready to take the kids to California while we prepare to leave for the NIH…NEXT WEEK!

There, I said it. I’m not really the pity-party type of person, but today it just all seemed to hit me. I think the combination of seeing how hard Hannah works in the therapy videos I uploaded last night to Facebook plus seeing her chest retractions when she really gets upset and worked up or maybe it was making the mistake of looking at a “where your child should be at 12 months” development checklist.

THIS IS NOT FAIR!!!

I was playing with Hannah in the living room, as we usually do, and she did something new today. She kept reaching out to hug me.

That’s when I lost it. I just started to cry. This disease is still creeping up in her brain and is causing more problems. This is really happening.

I just stared at her, and for the first time ever, I told her to fight it. I told her not to give up. I told her that I would do whatever I can do to help her.

But I feel like I am failing in that department. I mean, reality check here, what are the odds that I can pull this off? Who am I to think that I really am going to find something to save her life? I feel like I have gotten so little accomplished and have made barely a dent.

It hasn’t helped that I have received very little help or even support from the people who really could help. I can’t do this alone. I have so many wonderful friends who have offered help, but the type of help I need is so intensive and so involved. I think that is one of the most depressing parts of this whole situation.

This Cerezyme fiasco hasn’t helped matters. Even though Hannah is not going to miss a treatment due to it, it really has thrown a curve ball in my plans. The National Gaucher Foundation and Genzyme have been so incredibly wonderful, supportive, and proactive with me, and we were just at the beginning stages of seeing how we could all work together. But now that has to be pushed back a few months until this chaos has normalized (understandably so, that is their priority, not Hannah – so I have no ill will towards them for that).

Don’t know why this has me more depressed today, but a researcher out of the country is working on a possible treatment to help slow down Hannah’s form of the disease. He agreed to test Hannah’s fibroblast cells to see how they would react with what he is working on. He warned me up front that the research data on Hannah’s genetic mutations make this not very likely at all to work for her. But then, this morning, I got an email saying that he would likely know by the end of the month now that he has the cells. I guess I felt like there was hope with this, but now reality is telling me that I’m just waiting for the big “doesn’t work, sorry.” Then what?

Lastly, money. I need to raise money. I need to raise a lot of money. It is going to take money to even attempt to save Hannah…there is no money out there. This could not have happened at a worse time in our economy. Not to mention that we are running out of money personally, and I just don’t know what the heck we are going to do. Money sucks.

I don’t want to lose Hannah. When I step back and look at her, I realize more and more that there is progression in her disease.

I don’t know what to do.