Hannah threw up today.  It has been quite a few weeks since she has actually vomited, which has been wonderful.  But was is really disturbing to me is that she did it while she was asleep during her nap.   She didn’t even wake up when she did it!  Her nurse was sitting right next to her while she was sleeping, and as soon as she noticed her mucousy secretions pouring through her pacifier, she turned Hannah on her side where she finished vomiting.

Thank goodness the nurse was right there because she could have choked or aspirated (gone into her lungs).   Hannah didn’t even wake up until her nurse jostled her enough while she was taking off her shirt (it was soaked) and was getting ready to give her a much-needed sponge bath.

That really scared me.  Just the concept that it happened.  Of course the first place I went was the internet, and I found a few possible explanations that could cause it including increased reflux and seizures.   My gut is telling me that perhaps her reflux is getting worse and her Prevacid is just not cutting it anymore.  I hope it is not more seizures, but that could be a possibility too (but she was fine after).   And as my friend Patty said to me, perhaps it was just a one-time thing that happens to normal children?

On a separate note, I’m having a hard time getting my pediatrician to get a rush referral to the new (third) neuro.   They say they faxed it, the neuro’s office says they never got it.   Tomorrow, I’m going to call and get them to fax it to me first.

As much as I dread the idea, I really think Hannah needs to have a sleep study done and/or a 24-hour EEG so we really can get a good handle on her seizure disorder and deal with anything else that may come up (apnea, desats, etc.).   Even though she is twitching less while she sleeps since we increased her Keppra, she still does it on occasion.

I really don’t want there to be any surprise findings, but I really think at this point I need to get peace of mind one way or another so we can keep her safer while she sleeps.

We are just four days away from Ethan and Abigail’s school campaign in recognition of World Rare Disease Day!

The principal has gone above and beyond anything I could have ever hoped for with this campaign.   Not only are the entire staff and student body encouraged to wear denim jeans that day (for Jeans for Genes Day), but all 450+ third through fifth graders will be making bracelets for the 7000 Bracelets for Hope project.  These bracelets will be attached to cards where each student will share a message to another child who is fighting a rare disease.   The K thru second graders will be coloring jeans ribbon printables and sharing messages of hope.

What blows me away is that she has not only dedicated an entire hour of school for this project, but she did it during a week of very important state testing.  It is so heartwarming to know that Hannah, Ethan, Abigail, and the other families who are living in situations such as ours deserve a chance to share our story and create awareness.

We have also been working to get the media out to this event.   Either print, television, or both.   Nothing has been finalized yet, but I’m keeping my fingers crossed.

The flyers for this event started being distributed to the students in the school last Friday.  From what I have been told, teachers aren’t just passing it out, but they are taking the time to explain why we are celebrating “Jeans for Genes Day.”

Daddy and I have been very careful to keep tabs on how this all effects Ethan and Abby.  Everyone in the school will now know our family situation, and that is a lot of responsibility for kids their age.  Ethan is incredibly excited and hopes to be on TV.   Abby is a bit more reserved, but I really don’t think she really gets what is going on.

Between the planning of this school event and the fundraiser on Monday, 2/28, at Hannah’s clinic, Hannah has dominated most of the conversations in this house, moreso than usual.  As much as I love putting this all together, I know that come March 1st, I need to take a step back and put our collective family of 5 back on the main focus.  It isn’t that I won’t do more events in the future, but we can space them out more.

World Rare Disease Day comes only once a year.   Those involved with these two events truly know how important this day is to us.

But now I must get off the computer and get back to cutting elastic string.  String for 450 students to create beaded bracelets is not going to cut themselves (but gosh I wish it would!)

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!