Today, I received quite a few reminders that as bad as I feel that things are going right now, that it could always be much worse.

I found myself worried about a friend whom I have known for about 10 years, a wonderful mom to 3 kids, who lost her home and all their possessions due to the floods in Tennessee.  The pictures are heartbreaking.  They are all safe, thank goodness.   But now they have to break the news to their children that all their items are gone.  Like that, their lives are changed.  They have to start over.

I found myself worried about Bertrand quite a bit during the day because he just was not himself.  His mom, my person, is such a strong and amazing mom and friend, and I know that these new injections they started him on to try and help control his seizures are so tough on all of them.

I found myself worried about Hannah’s birth friend, Charli, who is going to have half of her brain removed in a bit over 3 weeks to try and control her seizures and spasms.  Her mom, who is going through a difficult time as it is, is also such an amazingly strong woman whom I admire.

I find myself worried about Hannah’s local therapy friend, Cooper, who was diagnosed with a severe mitochondrial disorder and who just received a gut transplant last week after waiting on the list for a year.  Now beings the long road to recovery.

I found myself worried about little Olivia, a Gaucher type 2 little girl, who captured my heart with her smile.  A smile that was almost lost to the world due to the progressive nature of this disease just weeks ago.    But I saw a picture of her today, and to say her smile melted my heart is an understatement.

I have so much to be grateful for.   I really do.  And I am grateful.

In the past month, Hannah has seemed to lose some of her physical skills that she has worked so hard to learn.  She no longer even tries to go from a kneeling to a standing position using something to lean against.  She no longer feels comfortable sitting in a chair.  She does not seem to be able to crawl as far as she used to.  She can not sit to stand anymore.  She would rather spend the time on her stomach moving around or in her dreaded W-sit.

At first, we attributed this loss of skill to her being sick with the virus for the past few weeks.  It was never bad enough that we had to seek hospitalization for it (except for one night in the ER when it was at its worst, which was just a heckuva lot of congestion that needed to be bulbed out).  But it definitely took its toll on her, as her naps each day went from 90 minutes or so to almost 3-1/2 hours.  Her sleep at night was horrible, as she would not eat much during the day so she would wake up around 3 am because she was hungry.

During this past sickness, she lost almost 1-1/2 pounds, which for a 24-1/2 pound little girl is a lot of weight.

She has started feeling better in the past few days, and her appetite is definitely coming back.  Unfortunately, her physical skills are not.  Daddy and I were starting to get worried.

We went to Physical Therapy today, first time in 3 weeks because of Hannah’s sickness, and I was really looking forward to it.  I needed to know what was going on with Hannah, why she was losing these skills (neurologic/Gaucher’s or strength/virus), and basically, what do we do now?

Both our PT and her assistant both separately mentioned that Hannah looked much thinner, especially noticeable in her arms.  Made me a bit nervous because I did not realize it was obvious.

Her PT strongly believes that Hannah has lost a lot of strength in her already hypotonic (weak) muscles.   She told me that for every week that she does not exercise or work those muscles, she loses 15% of what she has learned.   Being out of commission for the most part for 3 weeks, that is a LOT of things that she has lost.

She does not believe that it is neurologic in nature, which is a huge relief.  The first sign of serious progression of Hannah’s gaucher’s disease is the loss of skills.  As a matter of fact, that is always the first question the doctors at the NIH and Dr. Schiffmann always ask us.

Basically, we have to go back to where we were about 6 months ago and start over.  Start all over.  Basically much of the work we have done over the past 6 months has disappeared…somewhat.    Her PT sent me an email tonight with the following homework.

1) Encouraging Hannah to move sit <=> stand by positioning a stationary object close enough so that she can lean forward and use the object to stabilize her trunk and by re-positioning her feet so that her toes point forward before moving into stance;

2) Encouraging Hannah to sit on an elevated surface with the hips leveled with or slightly higher than the knees (for improvement of Hannah’s upper body control and sitting balance);

3) Facilitating a more erect trunk posture by positioning toys at a level that Hannah has to reach forward or slightly upward when in the tall kneeling, stance, and tailor sitting  (Indian style) positions or when sitting on an elevated surface; and

4) Encouraging Hannah to sit in the tailor sitting position (Indian style sitting) as much as possible to stretch her inner thigh muscles (opposite of the W-sitting position).

I’m going to miss our PT and our hydrotherapist when we move.  They truly have done so much in helping Hannah advance her skills.  It will definitely be a loss for us!  I just hope that we can find someone who is talented enough to keep working with Hannah and her physical gross motor skills.

At 21 months old, Hannah is embarking on her first surgery, and I am a major stress case about it.

What type of surgery…EAR TUBES!  Yes, Hannah has had fluid in her ears for many months now, and we have been debating for a few months now whether or not to put tubes in her ears.   Ear tube surgery, the most common surgery for children.  Even Abigail has had 3 tube surgeries without more than two thoughts about it.

Yet, here I am, incredibly worried about this procedure for Hannah.

Why?

Anesthesia. I have had conversations with so many people about this sedation.   I have heard stories from other nGD parents who have had simple procedures yet the anesthesia cause such major complications because of airway issues that one child even ended up in the hospital for a week with a trach.

My ENT is so patient with me.   He even talked to me at home one evening just to discuss our options and make sure there I had a complete understanding of the process.   He is taking so many precautions (like having Hannah spend the night in the hospital for observation after the procedure) and has done so much research on nGD and anesthesia that he has shared with me.  We have agreed to start with IV sedation (which we know Hannah has done well with before during her brain MRI) and mask anesthesia.  I really, really want to try and avoid intubation (tube down the throat).

So the plan is in the works to have this done during the second week of May so that we can have a month here in Texas to recover and deal with any complications that may arise.

I want to give Hannah every opportunity to live a good life.  Draining the fluid from her ears will not only give her the best chance to gain a stronger sense of balance but hopefully get her speech moving forward.

As we get ready for this major life change (move to Vegas), I have been doing some serious thinking about Hannah’s therapy needs.   From day #1, we have been winging it because we weren’t sure what Hannah’s progress would be and even if she would be with us by this point.   With the exception of her hydrotherapy, developmental therapy, and her physical therapy, none of her other therapies have a direction or purpose anymore.  Hannah has been extremely cranky with almost all of her therapists, and I just don’t see enough progress to push it for the next 5 weeks.

So I sent an email to Hannah’s developmental therapist, who is also Hannah’s ECI service coordinator, letting her know that I want to cancel all of Hannah’s ECI therapies at this point with the exception of her.  Truth be told, her visits are more for me at this point than Hannah.  She has been my local support and lifeline since Hannah was 4 months old.

For the remainder of our time here in Texas, Hannah’s therapy will consist of PT on Wednesday mornings, hydrotherapy on Friday mornings, and developmental therapy on Friday afternoons.

Once we move to Las Vegas, I am going to try and get an appointment with Dr. Joanna Fricke at UMC Las Vegas (our new home away from TCH), a developmental pediatrician who specializes in working with children with neurologic developmental delays.

I really believe we need to get Hannah evaluated by a developmental pediatrician who can help us map out a new plan of action for Hannah so we can concentrate on therapies that will help improve her life and not spend time on therapeutic situations which may be too difficult for Hannah to grasp at this point.   I really want someone to say “Based on what we know about Hannah and conditions similar to hers, this is what would work best for her…”

I’m going to try and set up an appointment this week for this summer.  I hope, hope, hope that we can get Hannah in!  We will still be likely working with Early Intervention again, and I welcome that.  I just want to spend less time in therapy and benefit Hannah the most.

Finally, we have something that we can write off for another 6 to 9 months!

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!”