In search of Neuraltus’ Ari Azhir or just answers!

I haven’t been able to find out any more details on the press release from Neuraltus’ regarding their funding for a new Gaucher’s Disease treatment.  I could be wrong in assuming, but since they work in neurodenerative diseases that they must be working on something for type 2 or type 3. 

I have had no luck yet finding out.  There doesn’t seem to be a website for Neuraltus that I can find.  I have emailed two of the founders at their respective hospitals.  I have also emailed two of the venture capital partners.  I cannot find any contact information for the CEO they mention in the article, Ari Azhir.   I found a phone number for the company Azhir works for, but when I called it, it was disconnected (probably old).  I’ll give these emails a couple of days.  Then, if I don’t get an answer, I will start calling around. 

I just need to know if this is hope for GD2 or GD3… even if they can’t give me details yet, just let me know which GD it is for.  If anyone can help find out, I would so appreciate the assistance!

Just feeling angry today

After slowing down for the past week or so, I’ve really done some thinking.  I know, very dangerous.   I realized that I am very angry, very disappointed, and just downright pissed.

• I’m angry that Hannah is sick with this type of disease.  She is such a beautiful, sweet baby. 
• I’m angry that I am constantly worrying about her prognosis.  I admit that I am cherishing the moments more than I probably would have, but photos and videos can’t capture her soft touch, her caress, or her genuine smile when she sees me.
• I’m disappointed that certain people I hoped to be able to count on for help and support have not only not been there for us but basically have disappeared from our lives.  There are even quite a few that I haven’t even heard from since we found out Hannah was sick.
• I’m angry that I am no longer the “in touch” mom I was.  Last year I was room mom for both Ethan and Abby’s classes and loved it.  I knew all the parents and knew all the kids.  This year, I couldn’t even tell you 1/3rd of the kids’ names in either of their classes.  I can’t attend all their functions, and I admittedly even missed on of Ethan’s recently because I just forgot about it (and feel horrible since all but two kids had their parents show up).
• I’m disappointed that I’ve let myself go to the point where I can’t even stand looking in the mirror anymore.   I actually got a manicure and a haircut before we left for Vegas.  Would you believe it had been almost 4 months since I had my rat’s nest of hair cut?  I can’t remember the last time I got a manicure before last month.  I felt pretty and feminine — I actually felt like a woman!
• I am angry because of our financial situation.  We were so self-sufficient before this situation.  Two incomes (even though mine was part-time so I could be the involved mom), nice small savings.   Now, we are down to just one income and our savings is dwindling down to make up for my lost income.  I’m trying to get writing jobs, but it is very difficult — I am thankful I have been able to get two paid articles, however!

I am extremely thankful for, however, those people who I didn’t know would be there for us who have come through for us with flying colors with all kinds of support.   You know who you are.

If a parent is willing to try to save their child’s life, why the B.S.?

As many of you know, I’m come to know and deeply care about Addi and Cassi Hempel, as I have talked to their mom on the phone on a number of occasions.  She, as an advocate mom, is what I aspire to be for Hannah.   They have Niemann Pick type C, and their mom is fighting so hard to save her daughter’s lives. 

Take a moment to read her latest post, as it just pisses me off to no end why people aren’t willing to be more compassionate and willing to help a stranger save their child’s life!

Politics of trying to be an advocate parent

I’m getting very frustrated…

As all of you that follow our journey regularly know, I am extremely gung-ho on trying to work to find a treatment for Hannah.  I’ll be damned if I don’t do everything in my power to try and save her life!  Admittedly, I can be a bit TOO gung-ho at times and may come up with ridiculous ideas sometimes, but I know in my heart I am doing it for the right reasons.

I don’t know the politics of the reasoning behind it, but the National Gaucher’s Foundation focuses their resarch primarily on type 1 and not on Gaucher’s Disease type 2 or type 3.  Perhaps it has to do with the fact that 95% of the people that have Gaucher’s Disease are type 1.   I really don’t know, and I haven’t really approached them as to why (although I do have a line of communication open with one of the directors who has been extremely supportive and is willing to talk to me next week about it).  So, my beef really isn’t with them.

There is the wonderful organization called the Children’s Gaucher’s Research Fund.  It was started over 10 years ago by a family who lost their son to Gaucher’s Disease, and they focus solely on type 2 and type 3.  I was referred to them by the National Gaucher Foundation.  This father has done amazing work, and I am in awe of what he accomplished in his son’s memory.  But, I have been trying to figure out if they are still a very active organization or if they aren’t really that active anymore. 

I’m so ready to start fundraising and creating awareness, but I can’t ask for money from people for research until I know that research is still being done, and if so, what specifically are we shooting for?  I have HUGE ideas in my head, many of you already know that.  I just hate the fact that I can’t get started.  It’s been over a week or so since I heard from the guy who runs it, and I am sure he is extremely busy, but I need to get started on this.  I feel like I’m already wasting time that could be used to try and save Hannah and the other kids with type 2 or type 3.  And if they are no longer very active, then I want to know so I can start my own foundation so that we can get money to researchers who have already been working on finding treatments for type 2 or type 3.

I hate sitting around not being able to do anything.  I know a few of you have asked about a fundraising button on the side, and as soon as I can find out exactly what is being done, then I’ll feel more comfortable asking for donations for research (as for our personal financial situation, that is taking a far back seat to getting money to researchers)!

I hope to hear back from somebody soon, as I’d rather focus on fundraising and awareness for an existing, already active group who has scientists and researchers in place.  I’m ready to kick some Gaucher’s Disease you-know-what!  I feel like yelling “I’m here!  I’m ready to raise money and create awareness!  Use me!  Abuse me!  Let me help!!”

Appointments, Treatments, and Bills…Oh My!

Some days I feel like I make no progress.  Then there are days, like today, that I just feel completely overloaded.  To sum up….

1. Consultation with the hematologist/oncologist regarding a possible bone marrow transplant for Hannah.  When the lady called me to schedule the consult that Dr. G., the genetics doctor, recommended, I was taken aback.  From everything I’ve read about Gaucher’s Disease, a bone marrow transplant is the last line of defense when the Cerezyme (first line) and the Miglustat (second line) do not work.  Even then, the risks versus benefits are not in favor, as it doesn’t always work.  I made it clear to the lady who made the appointment that we weren’t even considering a bone marrow transplant at this point, and she apparently knew this.  So, we are meeting this doctor on the 2nd of Febrary after meeting with the Jewish Family Services to see what they have available for us.
2. Scheduling her first Cerezyme treatment.  So it looks like they are shooting for February 6th.  We went from doing one treatment at the Infusion Clinic downtown (to watch for side effects) with subsequent pediatric Home Health visits to now doing more treatments there and no Home Health yet.  I’m not sure why.  Even though it will be a pain to drive every 2 weeks, I’m not that upset only because she will be in a more controlled environment just in case she experiences side effects or something.
3. Medical Records scramble.  I’m still trying to get the medical records from the clinic downtown for Dr. S., the Gaucher’s specialist, next month.  Supposedly, at least I was told this, they will be worked on this Monday.  I sent them in on January 9th.   I’m sure I’ll have to follow up on this too.
4. The Project Charity.  I talked with Nicole who is heading up The Project Charity, an organization that is just what I needed when I first started learning that Hannah had a very rare disease.  I’m going to work with her on a community-based and interactive portion of their site to help other families, especially those that don’t have access to experienced medical professionals in their area.   She has fantastic ideas for the future of this program, big time, and I am so excited to be a part of it and get involved.
5. Got my eye appointment in finally.  I had to postpone it three times because of various appointments for Hannah that popped up the same time I happened to schedule this.  Fortunately, my eyes are still healthy, and my contact prescription hasn’t changed (in about 15 years!).  Note to self…order contacts!
6. I picked Little Girl A up at 2:15 PM today instead of 4:30 PM at school.  She was already at the window waving at me when I drove up.  You could see the huge grin on her face.  Her teacher told me that she had been saying all day that I was going to pick her up early.  While she was getting her stuff ready, I said three different times that I won’t do this again and that she will have to stay the whole day, and she said “she knows.”  We will see.
7. Fighting with the insurance company/laboratory about this dang $400+ lab bill from three months ago.  The doctor or laboratory coded it wrong, and the insurance company won’t cover it.  Trying to get someone to fix this for us is a nightmare.   Everyone passes it off to someone else.  Now, we got a deliquency notice, and my insurance rep said that basically we should pay it now (the lab bill) instead of waiting until it hits our credit.  Great.

Other than that, nothing much else happened today!

I know I took a step forward…

but in retrospect, I’m still exactly where I was yesterday.

I finally was able to touch base with the genetics nurse coordinator yesterday afternoon.  Basically, she wanted to know if Hannah would be a “good stick” for the IV based on “my experience.”  She hasn’t had that many IVs in her life, thank goodness.  She had the one when she was a newborn where the did the platelet transfusion whe was two days old.   That one was in her hand.  Then, there was the IV placed in her head for the IVIg transfusion; I think that was six days old.
 
She has had quite a few venous blood draws.  All of the ones done at the clinic downtown were easy and successful on the first try.  However, the one time we had it done at a lab up by our house, it was a nightmare.  Obviously they didn’t have experience with infants because it took 3 different tries on two different days.   It was ridiculous, and I was ready to walk out of there and drive downtown to get it done had the “chief phlebotomist” not been able to do it that last time.  In the future though, we are doing all venous blood work downtown.

The reason she asked was because she was working on setting up our Home Health pediatric nurse who is going to administer Hannah’s Cerezyme treatments after the first one, which will be done in the clinic so they can watch for side effects.   I honestly can’t picture Hannah sitting there for two hours with an IV drip.  Fortunately our Home Health nurse (which is covered by our insurance just as if it was done in the clinic) should be very well experienced with IVs on a baby. 

Then we talked about the port issue.  She was under the impression that we were vehemently against it.  She must have had us confused with another set of parents, because it is definitely something we are considering, as it would make it much less painful for Hannah every two weeks.

She asked what days would be good for me for Home Health.  I told her Monday, Wednesday, and Friday since I have Little Girl A home with me on Tuesdays and Thursdays.  I would hate to waste one of those days with her home for IV treatments because she is going to be starting Kindergarten next year and won’t be allowed to have any stay-home days during the week.

So, information was exchanged yesterday, yet I still have no clue when we are going to even start the treatments.

The Catch-22 with Doctors

I’m getting a bit angry that I haven’t heard back from Hannah’s genetics team about when she was to start treatments. Over a week ago, the genetics nurse told me she would get back to me the next afternoon. Of course, she didn’t.

So, I emailed her the next day. No response. It would be one thing if we were waiting on something minor and not so significant. But we were discussing starting the treatment that is going to change my daughter’s life!

Two days later, I finally called her office. “Dr. G. has been out of the office for the past couple of days, but I will make sure he signs the orders on Monday”.  She couldn’t email me just to let me know he was out and that it would be a couple more days?

Did I hear from her yesterday? Nope.

Am I going to get on her again today? You bet your sweet you-know-what.

The thing is that I do understand why doctors don’t get so involved with their patients. First off, I’m sure Dr. G. has hundreds of patients, all with genetic-related syndromes and diseases. To create such a “do anything for this patient” mentality and bond with a patient would be difficult. I get that.

I get that Hannah is just “another case” to him, even though he admits that he had to do a lot of research on Gaucher’s because he wasn’t familiar with it — aren’t doctors supposed to love a challenge? I get that.

I’m sure he and his team have dozens of phone calls and emails from family members wanting things done immediately, if not yesterday, and there is only so much time in a day. I get that.

But you know what? As much as I do understand all of this in my head, it still pisses me off to be pushed aside and not given answers when they say they are going to give them.

There is no reason to have me wait two weeks to tell me “we have a diagnosis” when I now know for a fact that the Gaucher’s Disease test results were there before Christmas. Dr. B., Hannah’s pediatrician, was able to pull up the test result and told me the date. Of course, he wasn’t sure if that was theee test result we were waiting for, so he couldn’t tell me the diagnosis was certain. But it was there. When I asked Dr. G. about it, “Yeah, it was ready a week or so ago, but it just landed on my desk.” How many times did I email for an update??? Couldn’t someone just have looked in the database like Dr. B. was able to do later?

Now, I’m waiting again and being pushed off again. The insurance company has already approved the treatments, the hospital pharmacy has already placed the order, now I just need Dr. G.’s group to get it scheduled.

Come on, let’s go. I know she may be just another case to them, but if you say you are going to do something at a certain time, don’t make me wait another two weeks!!!

« Previous Page — Next Page »