Archives for December 2010

Hannah has a cold.  A simple, normal child, everyday cold.  She has no fever.  Her white count, as of today, was normal.  Her ears are fine, so we know there is no ear infection.  We know it is not trachiitis because her secretions most of the time are clear.   So why is it when Hannah gets a cold, I am so on edge with every cough, throw up, and gag?

I’m starting to get concerned that Hannah is developing laryngospasms when she coughs.  She gets so gooky in her trach, and it is almost like she goes into these spasms trying to cough it out.  They can last anywhere from a few seconds to maybe 30 seconds.  Rarely is there any more secretions in her trach, but she still is acting as if there is something in there.  Also, her body will go stiff sometimes during these episodes as if she is using all of her power in her body to deal with these spasms or gags.

She has also started throwing up mucous again.  We had a week or so of throwup-free days.  But again, it seems like she is generating so much secretion in her trach because of her cold, swallowing it before we can suction it, and then her stomach fills out, etc.

Also, it is only 1:30 am, and I have already had to suction her about 5 times tonight because she has thick mucousy secretions that are causing her to choke because they are too thick for her to swallow. (I rarely have to suction her on a normal night).

It also doesn’t help that she is still going through the Haldol withdrawals.  Tonight was her last dose…hopefully forever!

Makes me wonder if she will really get the trach out in the spring.  Is it in her best interest to do so?

Of course there is no one to really ask here.  I know more about this disease than any of her doctors.  They will be like “it could be” or even may say it is because it may look like it when it could be some other neuromuscular problem caused by her Gaucher’s.  So I feel like we are on our own to make these decisions for her.   We will cross that bridge when we get to it, I guess.

BTW, this post took me about 30 minutes to write because I ended up suctioning 9 different times.

This was just one of those days I wish I could write off…

It started with me packing Hannah up for her biweekly Cerezyme infusion.  For me, I was running on 3 hours sleep, and Hannah was cranky about 5 minutes into the 30-minute drive requiring a LOT of mommy singing “Wheels on the Bus, Ice Ice Baby, and Old McDonald”… over and over and over again.

While in the waiting room, there were two young kids (about 3 and 2 I guess), and they were fighting at the toy wall while the mother was at the window.  The little girl (about 2) started screaming at the top of her lungs.  Ear piercing, mind numbing screaming at her brother.  The mother did not flinch.  The other family that was waiting and I kept looking at each other like “Come on mom, deal with this” while nurses started pouring out the door to see what that horrific noise was.  It must have lasted at least 3 minutes, no exaggeration, before the mom came back acting like “yeah, whatever.”

It freaked Hannah out after about a minute, and we moved to the other side of the waiting room (which is not that big, mind you).

We finally get into the nursing room, and they start to do Hannah’s BP and temp.  Hannah’s infusion nurse, Mary (whom I adore) comes in and tells us that they don’t have her Cerezyme.

Apparently there was a huge ‘thing’ last week about Cigna, our new insurance company, refusing to cover Hannah’s Cerezyme treatment because she has neuronopathic Gaucher’s disease.   There were a lot of phone calls made on our behalf late last week between the infusion center and Cigna, and they finally got Cigna to agree to cover Hannah’s life-extending treatment.

I could make a whole rant on the insurance industry not wanting to cover type 2 and type 3, but I don’t feel like it right now.  Just know it is in my head.

Hannah’s infusion nurse apologized for forgetting to call me that it wasn’t there.  So we headed back home.  Another 30-minute drive with a toddler who hates being in the car for more than 10 minutes.

THEN, there was the fiasco with trying to get the process started for Medicaid to cover Hannah’s over-the-counter meds.  We have done everything we were told — get the prescription, tell the pharmacy what the plan was, etc.  CVS could not figure it out.  They said they required certain codes to process it, but Medicaid could not give out those codes.  Huh?!?

Finally, I contacted our awesome Katie Beckett case manager who offered to help straighten everything out for us.  I tell ya, she sure makes up for that horrific case manager we had in Texas!

We have to go back on Thursday for Hannah’s Cerezyme treatment now.  Better late than never.  I am so thankful that our infusion nurse didn’t give me a heads up that this was all going on last week — the stress of Hannah losing this treatment would have been a nightmare for us!

This was all done by noon.  Needless to say, I was ready to write the morning off…

We have been working on weaning Hannah off the Haldol for the past 10 days or so.  We have no removed her afternoon and morning doses, as per the neuro’s schedule, and next Friday she will be completely off it.  We have definitely noticed some effects so far, but are not sure if it is the lack of Haldol or the withdrawal from Haldol that is causing these issues.

She has been more, well, just not herself.  Not really cranky as much as just not happy, I guess.  Her sleep schedule is really messed up as well, as she is more restless than usual.  Hopefully once the Haldol is completely out of her system, we can get an idea of how she really is doing.

We did our holiday photos tonight as well.   It was a lot tougher than we had anticipated with Hannah.  Even though she was willing and happy, it was hard keeping her movements under control enough to keep her seated long enough for me to take the many, many pics.  Abby and Ethan were absolutely amazing with her and so patient.  They helped by holding her hands and arms in a way that you think they are just being loving and not helping hold her steady.

One thing Daddy and I both noticed was that in all of Hannah’s pics, her eyes were mostly crossed (strabismus).  I guess we don’t see as much in person, but when it is staring at you in multiple pictures, it feels like a knife through the heart.  The most visible symptom of Gaucher’s disease type 2 — the fixed crossed eyes.  Hannah does have it most of the time now.  Sucks.

This on top of the news that Hannah’s soul sister, Olivia, and Addy are going through incredibly difficult times now.  They both have Gaucher type 2.   I mean, we aren’t talking just rough and inconvenient situations.  Really, really tough and heartbreaking times.   I find myself constantly thinking about them.  It hurts, it really hurts and makes me very upset.   Even Daddy has been feeling the stress of their situations, and it has affected him as well.

The thing is, when I think about Olivia and Addy and their situation, I always find myself putting ourselves in that situation as that could be us with Hannah at some point.   Sooner than later, as we see how this disease is taking hold of her.

Daddy and I have had quite a few “reality check” conversations the past few days about Hannah’s condition.  Conversations parents should not have to have about their toddler children.  You know, in one respect, I feel very lucky that he and I can openly talk about what we are thinking and can share with each other, even when the conversations are ugly and scary.   But I hate, hate, hate that we are having to have these conversations, the “what happens if? what do we do if?  how do we handle blank if?”

And the worst question that kept pounding my brain — “What is next year’s family holiday picture going to look like?”

Yesterday Hannah had her Early Intervention Insight team evaluation.  Basically, it was a chance to have Hannah evaluated by a vision therapist and an adaptive technologies therapist.  They spent about 90 minutes with Hannah (who was actually awake for most of it), and we learned quite a bit already by working with them just during that period.

They did their overall assessment of Hannah’s development.  You know, I really used to dread those evaluations, but now it doesn’t seem to phase me ‘as much’ anymore.  She tested at the 12-month age level for most everything with a couple of scattered 12-18 month areas, and one 1-4 month area (yes, that is not a typo!).  I will admit that 1-4 month age development level (I even forgot what it was in) took my by surprise.

But to me those are just numbers at this point.  As I keep telling everyone, my goal is to keep her happy, pain-free, and to learn as much as she can and is willing to.   I want to keep pushing her to try new things, to learn new skills, but if they take two weeks, two years, or never happen to come, that is okay too.  We just got to keep trying — and she doesn’t seem to mind it, so why not?

We found out that Hannah really gravitates towards the red and yellow items.  We always knew about the yellow, but the red was a surprise.  She also really likes lightweight shiny metallic objects!   The vision therapist brought out some metal bowls, mixer blades (or whatever they are called), measuring spoons, and some metallic colorful sponges we had bought for her sensory bin.  She LOVED it!

The AT (adaptive technology) therapist was VERY excited that we had the iPad for her.  A lot of the therapy she is going to recommend over the next year as well as when she transitions into school is apparently going to be based on using it, especially the communicative side of things.

She brought us a big red button.  We are going to work with Hannah so that if she wants something (we are thinking the iPad because she is loving it) that she has to hit the red button, which then lets out a prerecorded “iPad”, and we give it to her.  Basically, start this way of communicating.

She also wants us to find apps that will allow us to only have maybe 2 or 4 picture choices on the screen instead of the 12 or 16 that we have found so far.  Because of Hannah’s movement disorder, it is so hard for her to isolate her hand to get to the picture she wants when there are so many in that vicinity (she usually presses 2 or 3 at a time accidentally).

This is definitely the beginning of Hannah’s transitioning into the school district in July when she turns 3.  The goal is to get her IFSP (individualized family service plan – EI) solidified and ready to go for the IEP (individualized education plan – school district)  meeting next month.  We are also meeting with the speech/feeding EI therapist in a couple of weeks, so that will be added to her plan as well.

I love the fact her therapists are so gung-ho about getting Hannah these wonderful services and especially feeling motivated to really make Hannah’s IEP unique to her needs instead of just the template special needs child.

But in the meantime, Hannah will always be my baby — whether she is at the 12-month level, 4-month level (in that one area), or if she progresses to the 18-month level…forever my baby, forever in my heart, forever making me smile.  And THAT is all that really matters to me.

Reprinted from the RareDiseaseBlogs.net:

The summer of 2010 saw remarkable activity related to the development of treatments for rare diseases. The U.S. Food and Drug Administration hosted a two-day public hearing for patient advocates, industry, academic researchers and others to voice their views on current procedures and possible ways to improve them.

The Senate HELP (Health, Education, Labor and Pensions) Committee also hosted a hearing, this one focused on rare pediatric diseases and how to accelerate the development of treatments for them.

New legislation introduced in the U.S. Congress this summer included two bills specifically related to rare diseases—one to remove a roadblock that might keep financially strapped patients from participating in clinical trials (the Improving Access to Clinical Trials Act), and the other to enhance incentives for development of drugs and biologics for children with rare diseases (the Creating Hope Act).

These events and actions might seem small and random to some, but I believe they may signal that orphan product development is approaching a “tipping point”—a point at which change becomes inevitable. And with rare diseases, where only about 200 of the nearly 7,000 known diseases have treatments, and many are not even being studied by researchers, change is a good thing.

Consider other current and upcoming events:

• A Rare and Neglected Diseases Caucus has just been launched in the U.S. Senate.

• FDA and NIH, with the help of NORD and Duke University, have created a Rare Disease Investigator Training Course to be offered for the first time in October. The course was “sold out” almost immediately after it was announced.

• NORD hosted focus groups of key stakeholders and found tremendous interest in rare disease research if appropriate ways could be identified to increase transparency and de-risk the process.

• FDA created an Assistant Director position to focus specifically on rare diseases in its Center for Drug Evaluation and Research.

• NORD in the U.S. and EURORDIS in Europe announced a partnership to encourage and facilitate global thinking among patients.

• Several “big Pharma” companies including Pfizer, Novartis and GSK have recently announced their intention to expand involvement in the rare disease space. While innovative small biotechnology companies should be applauded for all they have done to date, patients also welcome the interest of these larger pharmaceutical companies.

Malcolm Gladwell, who made “tipping point” a household word with his book (The Tipping Point: How Little Things Can Make a Big Difference) published 10 years ago, wrote that in any situation, 80 percent of the work will be done by 20 percent of the participants. These 20 percent, he wrote, are people with enormous gifts for communicating and inspiring.

They are also people who are driven by an overpowering sense of the importance and rightness of their cause. And that’s certainly true of those who are promoting progress in orphan product development on the scientific, advocacy, and regulatory fronts today.

I believe we may be approaching a tipping point in rare disease research and orphan product development. And, if that’s true, it’s wonderful news for the millions of people who have rare diseases for which there is currently no treatment.

This has a big few weeks with regards to transitions in my life, both on a personal level and a parental level.

Hannah’s good friend, Bertrand, graduated from Early Intervention today.  Such a huge, huge milestone.

Then I looked at my calendar.   January 14, 2011.  Transition meeting with Early Intervention and School District.   Wow, how did we get here so fast?   Hannah will be graduating from EI herself this July.  She will be THREE years old!

I think about when we started EI services.  Hannah was just 4 months old at that first meeting.   She didn’t even have an official diagnosis at that point yet.   This was the beginning of meeting so many wonderful therapists who came into Hannah’s life and have helped her excel to where she is today.

I go back and think about her original prognoses — 9 months, then 18 months.  I remember sitting with her EI coordinator back in Texas and having her mention this “transition meeting” in a year or so when she was 2-1/2, wondering in my heart if we would ever get to that point.   I never let myself believe we would be discussing transitioning her to the school district.

But we will be.  In just a few weeks.   We will be having that infamous meeting I had always hoped to have but was so fearful that I would never see — the aging out of Early Intervention.    Now we just have to find a way to keep her wonderful service coordinator in the picture after that — Hannah has grown quite attached to her!