We had our official first transition meeting with the school district today.  Hannah ages out of early intervention in just 6 months!  I can’t believe it!

It was a very informative meeting.  We talked about the options that we have such as putting Hannah into a school setting versus teaching her in a home setting.  We talked about Hannah being able to ride the bus (yeah, not going to happen LOL).  We talked about socialization, skills, and everything in between.

• Hannah has to get approval from Dr. Bernstein (her specialist) in order to be able to attend school.
• The school would be in a local school, hopefully the kids’ elementary school!
• School would be 4 days a week, 2-1/2 hours a day (10 hours a week) and would include PT/OT/ST, etc.
• They would provide her any resources or equipment she may need while she is there (wheelchair, special setup, etc.)

There is a HUGE negative for me.  There is only one teacher and one assistant in the class.  There would be no one dedicated full time to Hannah.  I asked if Hannah’s nurse could be there, in the background even.  “Something you have to discuss with the school district but most likely not because of liability issues.”

Everything sounded so exciting, so perfect.  The socialization, the learning, just getting her out with new experiences.   Everything I have wanted to give her for the past year.

The only one thing that is sincerely freaking me out is what happens when she has a tantrum (which she will because, let’s face it, she is spoiled), which leads to a breath-holding spell?   If she can’t be calmed down by someone she trusts and feels completely comfortable with, she may end up having a seizure again or even an oxygen-depravation stroke from the breath-holding spell (same as what happened back in May).

The school district representative suggested that perhaps myself or Hannah’s nurse can ease her into the classroom setting by being there for the first hour in the beginning.  As much as I would love to be that person (and probably will be at first), I think Hannah’s nurse is a better choice because, well, she isn’t Mommy.  Hannah is more independent with her therapists when her nurse is there (but will not do anything unless she has someone she trusts there).

Honestly, I can totally picture myself sitting outside the school door every single day during those 2-1/2 hours….just in case.

No one else thinks Hannah will be as bad as I think.  I know it is the mommy instinct in me, the protective nature over my littlest cub.  I hope I am being overdramatic and overreacting.  I just don’t think I am not.

We scheduled Hannah’s diagnostic testing for May.  This will give us the tools we need and the tools the school district needs in order to come up with her IEP.  School doesn’t start until after summer (same schedule as Ethan and Abby).  Even though it is just a few months away, a lot can happen in those few months between now and May as well as between now and the start of school.

I am not going to let myself stress over it just yet.  But it is definitely something in the forefront of my mind.  Obviously, this is something I need to start working with Hannah on now.   For now, I plan to remove myself from Hannah’s therapy sessions and stay hidden so Hannah can work with the therapist while having her nurses there (whom she just loves).  That is a good first step, especially with PT and OT where she just does not like even walking in the door!

As soon as everyone left, I texted Hannah’s Texas early intervention coordinator to tell her that “this day” had come.  When we first started talking about this meeting back when Hannah was just a few months old, it seemed so far off in the distance.  It was one of those ‘events’ that I was scared that Gaucher’s Disease was going to rob me of.   She had grown incredibly attached to Hannah from the beginning (even putting a stipulation in her job promotion that she gets to keep Hannah as a client even though she would not be working directly with kids anymore).  She was so incredibly excited that we reached this milestone, this first “transition” meeting.

I will admit, I am a very proud mommy.  Today was another milestone reached.  Now I just have to get over my mommy fear and figure out how to get this to all work out without giving me a nervous breakdown!

For the past two days, Hannah has been more junky than usual trach-wise.  We felt like an infection was brewing because her secretions were no longer clearly and liquidy but were becoming greenish and thick.  We were also starting to suction more often than usual.

Last night, Hannah woke up at 1 am.  She had been completely restless through the night, and I wasn’t surprised when she finally woke up at that time.  What I was surprised with was that she did not go back to sleep until 5 am!  She was restless, uncomfortable, and nothing I could do would comfort her.

Around 4:45 am, she started whimpering and crying out (in her silent cry), so I knew that there had to be pain involved as well.   I woke Daddy up at that time to have him get the Motrin while I rocked Hannah in my arms, singing, caressing, whatever I could to help her feel better.  It was obvious she was feeling horrible by then.

The motrin finally kicked in around 5 am, and she fell right asleep.  Thank goodness.

Because we could not get Hannah in to see anyone at her pulmonologist’s office, even though I had been calling for two days (Grrr….. vent for another day), we ended up setting up an appointment with her pediatrician for 3:15 pm today.

Hannah was definitely not herself all day today.  Her nurse told me that she only want to be cuddled and snuggled and did not want to play.  She was also pulling at her trach a lot, so we were leaning towards either trachiitis, strep, RSV, or a sore throat.

Hannah crashed about 30 minutes before we had to leave for her appointment.  I was putting her diaper bag in my car when her nurse ran out to the garage with a gasping Hannah in her hands.   Hannah had started to turn blue and there was a bit of blood around her trach-less stoma.

Hannah decannulated herself.  While her nurse was getting her socks on, Hannah grabbed her trach tie and yanked out the trach.  Normally, the nurse could get it back in, but not this time.  It had been swollen from whatever illness she had plus Hannah started panicing and having a breath-holding spell.  The stoma (hole) was closed so tightly, she couldn’t get the trach back in.  She ran to me for help.

I had the nurse get a 3.0 size trach (one size smaller), and it took a lot of work to get that one in.  But we finally did it.  It was a huge relief when a huge splash of blood-tinged secretions came shooting through the trach.  Then, to make matters worse, as we were trying to get the trach ties hooked on to her trach, the trach came out again!    Again, we rushed to get it back in even though she was so panicked again and held her breath that it was tough getting it back in.  Finally we had her trach in and her ties tied.  We waited about 10 minutes so Hannah could catch her breath and her color returned.

It was scary because Hannah was having so much difficulty getting air in that she was starting to turn grey around her lips.   Even if we called 911, they would not have gotten there in time, which is even more scary!  We need our damn oxygen already!  This is why!!

We went to the pediatrician’s office and shared what happened.  Hannah started having breathing issues again, and her pulse ox was hovering in the 91s to 89s.  It took a good five minutes before it started going up again.   At this point, we were bracing ourselves for a possible overnight hospitalization in order to get her oxygenation up and find out what was going on.

They did a strep test (negative), RSV test (negative), and took a culture to test for trachiitis.  They started her on Cipro as a preventative just in case it was trachiitis again  (cipro was the only thing that worked the last two times).

Our nurse practitioner said that she was going to take over getting us the oxygen at home (and a pulse ox).  She believes that every trach’d kid should have oxygen nearby.   She took the information from me and said she will take over getting us the oxygen and to call her tomorrow for an update.

This is more of a relief than you realize, because I have been trying for TWO MONTHS to get a letter of medical necessity from Hannah’s pulmonologist office…and I STILL have not gotten one!  (again, vent for another day).   And even before our insurance change, I had been trying to get it since we moved here but Aetna refused unless Hannah’s O2 went below 88 documented.   Well, how the hell can we tell if you won’t give us a pulse oximeter!  (okay, some vent now, and the rest for later).

After we returned home from the pediatrician, we decided that since Hannah was calmed down that we try switching out the 3.0 backup for her regular size 3.5 trach.  Not a good idea.   Once we pulled the 3.5 out, she started screaming, crying, and breath-holding again.  Daddy then couldn’t get the 3.0 back in either.  Finally, I tried and was able to get it in.  Again, blood-tinged secretions blowing out of a trach is a very welcome thing after an event like that.

What we think is happening is that Hannah has a sore throat brought on by whatever illness she has (cold or trachiitis).  So each time the trach rubs against the sore throat, it is making it 50 times worse.   It also probably scraped the sides of her sore throat each time she was decannulated or we tried to change it out, which is why it was blood-tinged.

We are going to wait until some time tomorrow to put back the 3.5 size.  We have to be careful because if we wait too long, we won’t be able to put it back in because her stoma will get used to the 3.0.  She needs the 3.5 size hole to make it easier to get her secretions out.

Hopefully she has a better night.  I hate when she isn’t feeling well because she can’t tell us what is wrong.  But seeing her actually whimper in pain or discomfort is a new thing, and it broke my heart.

Before Hannah got sick this summer, she was just starting to cruise around in her gait trainer.  She loved chasing the kids in her walker, and she was pretty good at standing for 10 to 15 minutes at a time assisted.

Fast forward to today… very weak legs, more significant hypotonia.  Right now, she can stand for maybe 30 seconds to a minute assisted.  Her ankles and legs just give way.   She can’t use her gait trainer anymore because not only does it rub against her gtube (which she didn’t have before), but she is just not strong enough to keep herself upright even assisted at this point.

She wants to stand.  She loves when we hold her up and she is on her feet.  She knows HOW to walk because she knows to put one foot in front of the other, and she does try.  But she just isn’t strong enough.

Last week we met with the orthopedics company that is going to order her a stander.   This would give Hannah the opportunity to stand completely supported, but with enough leeway that she would be working her leg muscles.  As a result, her legs will hopefully become stronger.  It comes with a desk so she will be able to play with her toys, her iPad, or read books while she is in it.

This afternoon, we are also meeting with the orthotics company who is going to measure Hannah for her SMO’s, the braces that go on her feet, over her ankle.  Her ankles are so weak right now that they bend inward at the slightest pressure.

Between the stander and the braces, we hope to be able to work Hannah about 10 to 15 minutes at a time and build up those leg muscles.

We know that Hannah likely will never be able to walk on her own without assistance.   We are okay with that.  But if we can get her to the point where she can at least gain strength and stand, even assisted, then it is worth it.

I have to admit, watching the two videos again that I mentioned above made me a bit sad to see.  She is just so different now, so much weaker. She loves to stand up.  You can see it in her face how much she likes it and how proud she is when she is doing it.  I just hope we get it sooner than later!

I was going to write a post about how Hannah’s disease is definitely showing signs of progression, although some of it can also be blamed on the hell she went through this summer and the permanent damage all those sedatives caused…but I don’t want to.

Hannah is now sleeping in her crib in our bedroom, hooked up to her humidifed trach collar.  She is wearing her Minnie mouse pajamas, and she looks so sweet and peaceful.

The amount of love I have for her is immeasurable.   She is one of the most important things in the world to me, and I want everyone to know it.  I love the fact that I am her favorite person of all time (well, me and Daddy).  I love the huge grin on her face when she hears my voice or sees me coming towards her.  Pure, pure unconditional love.

She doesn’t talk.  She can’t walk.  Her crawling is becoming more and more compromised.  She doesn’t understand commands other than “up/down.”   She can’t be reasoned with.  She can’t be bribed.   She can’t pretend to show emotions she isn’t feeling.  She can’t blow kisses or even pucker.

Her greatest gift is her smile.  When she is happy, she has a grin that lights up the world.  Huge, huge smile.   Every single time I see her smile, I melt.  Every…single….time.   Those eyes, those cute little Minnie Mouse cheeks.  Gosh, I am a sucker for them.

Her two regular nurses have fallen for that smile too.  One of them always has to pick her up to snuggle her before she leaves, saying that she is “stealing Hannah’s kisses” because she wants that smile fix before she goes home.

To say she is a gift is cliche’, but gosh, it is so true.  When she smiles at me, I feel lifted in spirit.  Hard to explain, but when I get those smiles, I feel like I am going to burst with love.   Almost intoxicating.  (I know, so drama, but it is so true).

I love her so much.  Love, love, love her.  Heart ouf of my chest, head in the clouds, in love with Hannah.   I am so thankful that she is a part of my life.

And I am thankful for being given the gift of another day that I get to be soaked up with her love and her smile.

On January 24th, I have been invited to give a web conference to all the Genzyme Case Mangers and Patient Care Liaisons.   It will share our experiences with raising a type 2/3 child, educate them on what type of support parents of neuronopathic children need (which is much different than a type 1 patient), and offer suggestions as to how they can better serve the parents of type 2 and type 3 kids.

I am so excited about this opportunity.  Finally, a chance to create awareness and understanding with those who work directly with other families!

This means so much to me on so many levels.

• I’m proud that the people at Genzyme believe enough in what I have done so far that they want me to share it with their staff.
• I’m proud that Genzyme realizes that families of type 2 and type 3 children need case managers and patient care liaisons who have a better understanding of this form of Gaucher’s Disease and how it differs from type 1.
• I’m proud that (hopefully) any new family that receives this diagnosis and begins Cerezyme treatment will have case managers who can better take care of them instead of feeling lost in the Gaucher type 1 world.

This is just huge to me.   Finally, recognition that type 2/3 needs more specialized support.  Now Genzyme is taking active steps to be able to provide it to their current and future clients.

As I mentioned in my previous post, my dear friend Julie kicked my butt into really going after the changes I would love to make.

Goal: For my kids’ school to allow jeans to be worn in honor of the Global Genes Project on World Rare Disease Day, February 28, 2011. Even though they are a public school, they do wear uniforms.

I would be so proud to see their school allow the kids to all wear jeans on that day in honor of all those children in the school who have siblings, family, and friends who are affected by childhood rare diseases.  The awareness that this could bring, even with just one school, would be HUGE for our city.  It would not only enlighten the children about the importance of awareness and research to help other kids, but it would create a wonderful amount of exposure, as it would also educate their parents about rare disease.

The wheels are in motion to try and put this in place.  There are some wonderful people helping me with this, believing it is important as well.   At this point, it is up to the principal to see if she would be willing to make this exception to their uniform rule.  I know it is asking A LOT, I do recognize that.   This isn’t an easy decision, I’m sure.

I’m keeping my fingers crossed.  Keeping my fingers crossed that on February 28th, 2011, all the kids in my childrens’ elementary school will be wearing their jeans instead of uniform pants.

They would be wearing their jeans for a specific reason…a conscious decision they made to show that they do believe that children like Hannah deserve a chance at life.

Jeans for Genes…  If I don’t ask for help creating awareness, it will never have a chance to happen.