Cooper, Hannah’s sweet little therapy friend from Texas, is losing his battle with mitochondrial disease.   What this little boy has gone through in the past year, even just in the past few months, is just excruciating.

Why does there have to be so much pain with these life-limiting diseases?   Why do our children have to suffer so much pain in top of everything else they have to deal with?

I remember talking to a mom who lost their little girl to Gaucher’s.   She told me about 3 days before her daughter passed that she was ready for her daughter to go.  She was emotionally exhausted by the constant seizures, oxygen desats, and suffering that her baby daughter was experiencing.   For almost two months, her daughter was ‘end stage’ (as she called it), and it was just….cruel.  I don’t know how else to describe it.

Now when I listen to Sarah talk about Cooper, I feel that same anger building up in me.  Why the hell does it have to be so excruciatingly cruel?

And the selfish part of me wonders…never mind.

With the exception of Dr. Bernstein at the Children’s Specialty Center, I have not found one specialist in this city who is really willing to get to know Hannah, understand her disease process, and how this disease relates to their specialty.  It has been horribly depressing, as we have gone through almost a dozen specialists in town so far.

One of the biggest question marks is whether or not to remove her trach this spring.  Between her local ENT and her local pulmo, we really are getting no true guidance on what to do.  Both of them are “Sure, let’s do it,” which is great they are willing to consider it, especially after our first pulmo here who adamantly refused to even consider it just because she has Gaucher’s.  But the problem is that they are just looking at Hannah and how she is now, not really understand our concerns and where we have been with this trach issue.

Looking back, to trach or not to trach has, by far, been our biggest decision and biggest conflict since she was 8 months old!   Not only do we have the potential swallowing issues brought on by her Gaucher’s as well as the laryngospasms and other pulmo issues, but Hannah also had prolonged laryngomalacia and vocal cord paresis (weakness).

When we met Dr. Roy from UT Houston (after her first ENT wanted to trach her at 8 months), he was a godsend.  He was the first non-Gaucher specialist who dove into research about ENT stuff and Gaucher’s and monitored her very closely for all of those Gaucher-related items.  He helped us hold off on the trach as long as we could.  (If it wasn’t for her oversedation this summer, I wonder if she still would be trach free!).   He also was a huge personal support system for me while Hannah was hospitalized this summer when Daddy and the kids moved to Vegas — offering to bring me dinner at night, buy me some clothes (since I was wearing the same 4 shirts for 6 weeks), and most of all rearranging his surgery schedule in order to get Hannah’s trach the day after we decided instead of keeping her intubated through the weekend.   Just a good, caring, and compassionate man.

He and I have kept in touch by phone and email since we moved to Nevada, and he gives me an outlet to express my frustration about this whole process here and the lack of caring and knowledgable support.    This past weekend, he asked me if her ENT here had done a bronchoscopy or scope since he last did in Houston because he believes she needs to be closely monitored even still.   Of course, nothing has been done here.

I shared with him how Dr. Bernstein is contracting some of the best specialists in the world to come to Nevada to see complicated kids like Hannah.  (He has already contracted with one of the top Gaucher docs to come out a few times a year, and we have already met with him twice).   Even though I know Dr. Roy’s schedule is incredibly crazy, I asked him if he would consider coming out and joining Dr. Bernstein’s visiting physicians group so that he could continue Hannah’s care.

Honestly, I expected a “thank you but I just can’t.”   I mean, asking one of the top pediatric ENTs in the country who also run the ENT program for one of Houston’s largest children’s hospital to come out a few times a year to come see Hannah and other complicated patients is just a HUGE request.   But I felt I had to ask because if I don’t at least ask, then there would never be a possibility.

He said, “Yes!”   He said he would love to join Dr. Bernstein’s group and continue to manage Hannah’s care.  He asked me to forward his info to Dr. Bernstein to get the conversation started.

When I read his response, you should have seen my face.  I was thrilled!   All of a sudden I felt this overwhelming sense of relief that Hannah may finally get someone back in her life who truly is looking out for what is best for her, especially in the specialty that is so critical with her form of Gaucher’s disease.   With Dr. Roy back in our lives as a primary for Hannah’s care, I won’t feel like we have to make all the decisions on the trach because I completely trust his guidance.

I’m not getting my hopes up, but I hope it works out.   But whether or not it does (I don’t know how contracting visiting physicians would work as well as licensing and all that stuff), I’m just so touched that Dr. Roy cares so much about Hannah to be willing to come to Vegas from Houston to make sure that she gets the type of care that she so desperately needs.

I didn’t end up going to today’s last day of the symposium.  After a great sit-down chat with Dr. Goker-Alpan and a very informative lunch with our patient liaison from Genzyme (as well as some quick chats with other researchers), I just felt that I got everything I needed to get during those first two days.

You know, these people are the best in the world when it comes to Gaucher’s disease.    I feel very fortunate to be able to be able to approach them personally and get, what I feel is, an honest expectation as to not only the progression of Hannah’s form of the disease but also as to the progress that is being made to understanding the disease and/or any treatments or cures.

Bottom line.    There will not be a cure for neuronopathic Gaucher’s disease in Hannah’s lifetime.  There likely will not be a cure within my lifetime.   There also likely will not be a successful treatment within Hannah’s lifetime as well.

We know that we don’t have much time left with Hannah.  We see this disease is progressing, even faster since her 6-week hospitalization this summer.  Our only hope at this point is to find experimental options, things to buy us more time with her.

But within that hope, we also have to balance the risks versus possible benefits.

Hannah is still smiling and happy and pain-free.   The three things that I have always are our top priority for her.    Whatever experimental options we may come across must be safe enough that we don’t put her in any undue severe pain or distress.   This disease is cruel enough in its process.

It is hard because as proactive as I am in the Gaucher community and as much ‘activism’ that I have done in the past two years, the bottom line is that it likely will not be enough to get to my final wish – to save Hannah’s life.   Bitter pill to swallow, but I will keep trying.

I will never, never, ever give up on her.  I can’t.   I won’t.  She is our baby girl.  She is Ethan and Abby’s little sister.   I will keep fighting to keep my family together as long as I can.

I know I have said this dozens and dozens of times.   But this disease just sucks.

Today was the first day of the WORLD Lysosomal Storage Disease Symposium.

Even though I knew the conference material would be over my head, I really went there just to meet some of the researchers and doctors that I have been talking with over the past two years since Hannah had been diagnosed as well as to catch up with some that we had already met.

It was a very successful day in that respect!

Daddy and I took Hannah with us along with Hannah’s nurse so we could introduce her in person.   We got to meet Dr. Zimran from Israel as well as his colleague Dr. Elstein who was just wonderful with Hannah!   We met some of Dr. Sidransky’s students from the NIH.    It was great to finally meet Rhonda Byers, head of the National Gaucher Foundation, in person — very personal, and after all the conversations on the phone we have had over the years, it was great to meet in person!

I also got to meet and hang out with a mom of a type 3 boy that I met online.  She and I just clicked immediately, and I was very thankful to have her to share stories with.

But I have to admit, the person that I wanted to meet most of all today was Hannah’s guardian angel specialist from Florida, Dr. Neal Weinreb.  I have mentioned him on here dozens of times over the years on here.  Even though he had never met Hannah, he has always gone out of his way to help me understand her disease process, find people to help, and just an amazing advocate for her.   He was even sweeter in person.

The strangest part of their meeting is that Hannah wanted to go to him to be held.  For her, this is unheard of — going to a stranger?   So she was being held in his arms, smiling at him, and just being her happy self.  It is almost as if she knew this man really cared about her.

I also got to catch up with Dr. Goker-Alpan as well as Dr. Sidransky – both from our NIH visits, and it was so good to see them.   I also got to chat briefly with Dr. Roscoe Brady, who is considered the “grandfather” of Gaucher disease, as he pioneered the understanding of the disease and helped create the Cerezyme that is keeping Hannah with us today.

I sat in on a few of the speakers, but honestly, this scientific stuff is so over my head.   When they were discussing the cellular levels of Gaucher and other things, I just was lost.

Tomorrow, Dr. Goker-Alpan and I are going to catch up before lunch, and I’m really looking forward to that.   After that, we have lunch with our Genzyme rep so it will be good to learn what is new with Genzyme, especially with the news that they are being bought by Sanofi today!

There has been SO many big things going on around here these past few days, it is crazy!

• Rare Disease Awareness event at the kids’ school is becoming bigger and better than I ever could have dreamed.   The enthusiasm and support from the principal and the staff has been overwhelming and exciting!   On 2/25, all the kids are encouraged to wear denim jeans for “Jeans for Genes” day in honor of Hannah and the other local children battling rare diseases.  The 3rd through 5th graders, all 450+ of them are going to be making bracelets for the 7000 Bracelets for Hope campaign.    The K through 2nd graders are going to be coloring ribbons and creating messages of hope to be given to the Children’s Rare Disease Network.   This event has turned into something just incredible.  My only fear….that the 12,000 donated beads we need for the school get here in time for the event!   Possible local print and TV media coverage.
• Rare Disease Awareness fundraiser at Hannah’s clinic, Children’s Specialty Center, on 2/28.   The clinic has been in the process of creating the first rare disease specialty center in Nevada for the past year.   Hannah is the official poster child literally, for this fundraiser where the are encouraging all medical staff in the entire medical plaza to wear jeans AND purchase from a gourmet paddy wagon that is donated proceeds of their sales to the clinic’s formation of this new unit.
• Make-A-Wish appointment all set!   Hannah was approved for a “Wish” from Make-A-Wish.  Kind of bittersweet because in one respect you hope she gets denied because her condition isn’t serious enough for a wish, but it is exciting that we will be able to give Hannah, Ethan, and Abby something they will always remember.   Something fun.  Something together as a family.
• World Lysosomal Storage Disease Symposium this week.   All the Gaucher experts around the world are coming to Vegas tonight for the 3-day conference beginning tomorrow.  I am so excited to be able to see Dr. Goker-Alpan, Dr. Sidransky, and Dr. Schiffmann again.  I’m also very excited to finally get to meet Dr. Weinreb for the first time who has been one of Hannah’s biggest supporters since we started emailing 2 years ago.   The only negative is that our normal Thurs-Friday nurse is out of town this week so I may not be able to get to the conferences I want to see, but we are working on it.    Possible media coverage here too!

I’m sure I’m forgetting some things, but it just has been absolutely crazy around here.    I am really looking forward to the conference tomorrow and introducing Hannah to some of the world’s best Gaucher researchers — all right here in my own backyard!

Hannah had physical therapy today.  It was another day to work with the stander that we were thinking of getting for Hannah.  Something to build up her muscles in her legs, knees, feet, etc.

This was our third week with the yellow trial machine, and Hannah lasted about 3 or 4 minutes this time.  She really wasn’t fighting it at all (it helped we put her iPad on the tray).  She just had a hard time keep herself up even with the restraints.

So her PT grabbed a different trial stander from the back.  It was being trialed by another client of theirs, a little boy who happened to be there at the same time.

It is called the “superstand” pediatric stander, and it can go from a reclining type position to a straight upright position.  It also secured Hannah in much better.

She loved it!   It could possibly be because the way the straps were on her body that they helped keep her movement disorder minimized.  It could also be that working out in a reclined position and slowly working up into a stand is a lot easier on her body.   Maybe she liked the color better.   For whatever reason, it seemed like a much better idea for Hannah.

We don’t think she is ready for a straight upright stander yet, and this new type gives us the flexibility of working up to a straight upright, as it can go into that position as well as dozens of reclining types of positions.   Baby steps.  But as you can see, she was a happy camper on it for about 10 minutes and still got a workout using her legs!

With having to deal with the insurance company and/or Medicaid, it will still likely be a couple of months before we get it.  But I think this will be much better for her.