I admit it, I feel like crap this morning. Just drained. I know it is my own doing, you know. I’ve been staying up late for so long researching and waking up early because of the kids. Now that we have a diagnosis, there is SO much more to learn and research. The information is overwhelming.

I have been like a machine for the past 48 hours since the phone call. Now I feel like I’m going to crash…but I can’t. Though I think I will catch a nap (at 8 AM) with Hannah now that Big Boy E and Little Girl A are off to school, and I finally get back to a routine.

I’m going to have to call my eye doctor again today and reschedule for the THIRD time to get my prescription because I’m running out of contacts. I don’t remember why the first time, but the second time was because we got the call to go to see the genetics doctor, and today I realized I rescheduled my appointment at the same exact time as Hannah’s already established therapy session with early intervention. I need to become more organized, I think!

Cerezyme is the enzyme replacement therapy that Hannah is going to start hopefully soon. I’ve been doing some research on it, and I have found quite a few opinions on blogs and the news about it. Pretty disheartening knowing that she is going to have to be on this for the rest of her life.

How are we going to afford all of this even IF the insurance will cover 90%? That is still $20,000 a year just for the drug not including the bills for the doctors, clinics, therapies, and other procedures (if she needs a bone marrow transplant). Some articles even put it at up to $350,000 a year for adults.

The average can be as high as $200 per kg every two weeks. Hannah already weighs 7 kg. That is $1400 every two weeks, and she is not even 6 months old. Will this be a problem for her to get insurance in the future?

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Cashing in on ‘orphans’ (CNN)
Pharmaceutical companies like Genzyme reap huge profits off treatments for obscure diseases.

NEW YORK (CNNMoney.com) — Some of the most successful blockbuster drugs in the world treat diseases that most people have never heard of. They’re called orphan drugs, and the government doles out big tax breaks to companies that deliver them. Even without the tax incentives, plenty of biotechs have found ways to profit big off drugs for rare diseases. How do they do it? By charging gobs of money.

Consider Genzyme, one of the more prolific producers of orphan drugs, also known as “orphans.” The Cambridge, Mass.-based biotech has three on the market, including a $1 billion-a-year treatment for a debilitating, hereditary disease called Gaucher. Gaucher disease results from a specific enzyme deficiency in the body.

Cerezyme, Genzyme’s Gaucher drug, is one of the world’s most expensive drugs. An annual supply can cost $200,000. About 5,000 patients take Cerezyme, according to company spokesman Dan Quinn, who said that’s at least half the world population for Gaucher patients. “Genzyme charges a higher price per patient because patients need the drug and there’s no other enzyme replacement therapy out there [that’s] approved,” said Biren Amin, analyst for Stanford Financial Group.

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Cutting Dosage of Costly Drug Spurs a Debate (NY Times)
When a drug can cost more than $300,000 a year, the right dose becomes a matter of public debate.

The drug in question, Cerezyme, is used to treat a rare inherited enzyme deficiency called Gaucher disease. Some experts say that for most patients, as little as one-fourth the standard top dose would work, saving the health care system more than $200,000 a year per Gaucher patient.

“It is economic malpractice to give a much higher dose of an expensive drug than is required,” said Dr. Ernest Beutler, an authority on Gaucher disease at the Scripps Research Institute.

Some other Gaucher specialists argue otherwise, saying that skimping on the medicine could endanger patients.

But all sides agree on one thing. “Nobody would even be wasting their time talking about this if it were a cheap drug,” said Dr. Neal J. Weinreb, a Coral Springs, Fla., specialist in Gaucher (pronounced go-SHAY).

In that sense, the dispute over Cerezyme could be a sign of the increased scrutiny that dosing will receive as drugs become more expensive. Pharmaceutical companies have faced complaints for years over prices, but now they might have to defuse efforts to use less of their drugs to cut costs, and to rebut accusations that doses are inflated to bolster profits.

There are also economic and social questions about how much burden taxpayers and co-workers should be expected to bear; ultra-expensive drugs, especially in full doses, can raise the cost of everyone’s insurance.

With Cerezyme, which is made by Genzyme, the profits are sizable. Gaucher disease, which can have complications like ruined joints, is rare; only about 1,500 people in the United States are on the drug and about 5,000 worldwide. Sales of Cerezyme totaled $1.1 billion last year, making it a blockbuster by industry standards.

Email response from the expert back east — God love this man for giving us so much help and insight without even asking for a cent!

Type 3 is indeed pretty rare. Estimated frequencies are about 1:100,000 or perhaps less. Type 3 is also no more common among Ashkenazi Jews than in the general population. At this point, I don’t see a compelling reason to assume that Hannah has type 3 disease. The fact that the enzyme activity in the fibroblasts was zero is of concern, but, on the other hand, the activity in the white blood cells was not nearly so low. These discrepancies based on cell type tested have been previously reported and don’t necessarily correlate with the classification of Gaucher disease. The most sensitive test for detecting type 3 disease is an evaluation of certain eye movements called sacchades. Normally, when a person is asked to gaze from right to left, the eye ball tracks pretty quickly. In patients with type 3 disease, the speed of tracking is reduced or the movement is delayed. If the eye movements are normal, to my knowledge, type 3 disease is not present. I don’t know, however, how early in life this can be detected or whether if Hannah has normal movements now, whether it is possible that she could develop the abnormality when she gets older. Dr Schiffmann is particularly expert in these types of measurements. By the way, even type 3 disease is very heterogeneous. There are some patients whose neurologic abnormalities are confined solely to the eye movements and there are a few type 3 patients in the Gaucher Registry who are older than 50! Of course, it is true that the course is much less favorable in some others.

Even patients with type 3 disease benefit overall from enzyme treatment in terms of quality of life and probably in terms of longevity. At this point, however, we should all keep an open mind about the type of Gaucher disease Hannah has and not jump to pessimistic conclusions. I will not be surprised if it turns out that Hannah has type 1 disease.

Look forward to learning of his opinion after Feb 12.

This was the test result from the fibroblast…
HETEROZYGOUS 84_85insG MUTATION
This is the fibroblast results
Beta-D-Glucosidase/Gaucher Disease

SAMPLE ACTIVITY
mmol/min/mg protein
PATIENT RESULTS 0
Normal Control 1 4.1
Normal Control 2 3.5
Affected Control 0
Control Range 3.0-10.0

N/A=not available
Source: SFC

INTERPRETATION:
DEFICIENT: This is diagnostic for Gaucher Disease in this patient.

According to the Gaucher’s specialist back east, this is what he had to say about it.
The 84 GG mutation is found exclusively in Ashkenazi Jews and it almost certainly the mutation that Mom has as a carrier. Dad’s mutation will almost certainly turn out to be rare and will have to be identified with sequencing. At this point, we can’t know whether Hannah’s genotype will be one that is associated with type 3 disease or not. The 84GG allele is associated with no mutant enzyme production which means that patients who have this allele often have more severe and aggressive systemic disease. However, it does not mean that they will have neuronopathic disease. Regardless of the genotype, the systemic manifestations usually respond very well to enzyme replacement treatment.

Does this mean it could be type 1 and not type 3??? I emailed him back just now, and hopefully he will answer me soon.

I didn’t want to add this to my previous post because it is too important and needs to be separated…

I have been inundated with so many fantastic offers of help. If I knew what to ask for at this time, I would definitely take you up on it! A few people suggested putting a donations button on our website to help offset medical expenses, but until I know exactly what we will need in terms of therapies, insurance coverage, etc., I don’t feel comfortable doing that. Perhaps in the near future. But thank you so much for caring about us so much that you would offer! I did add the Google ads on the sidebar, so if you find something that interests you, please click on that — it helps!

I have so many ideas to expand my blog. I’m going to ask my web-savvy and blog-savvy friends for help in developing it into a 4-fold purpose:

1.  To follow Hannah’s journey as we WILL find a cure for gaucher’s type 3 and give Hannah a long and healthy life like she deserves.
2. To highlight other children with very rare medical conditions because I’ve realized that unless you have a “common” childhood disease, your situation will not get the exposure it deserves because there just aren’t enough people to give it awareness.
3. To become an information house for parents of other Gaucher’s type 3 kids.
4. To become a starting point for parents who just find out their child has a rare life-limiting or life-threatening condition on how to get help and services, especially since it can be lonely trying to find support when your child has something so rare that hardly anyone has heard of it.

So, if any of my websavvy and blogsavvy friends and visitors want to help with this part of my mission for this blog, please email me at the “Contact Link” above!

I’ve done so much this morning, but I have so many other things in my head that need to be done too. My head is just spinning! I don’t think this has all soaked in yet, which is probably a good thing.

1] Talk to Aetna, our insurance company this morning. They are going to assign me a caseworker for Hannah so I can direct all of my questions to one person. The member services person I talked to ‘thinks’ that the Cerezyme treatment would be considered a medical expense as opposed to a pharmacy expense because it is done either in a hospital or an outpatient clinic since it is an IV-based infusion. But she isn’t sure. Hence, the assignment to a caseworker. That would be awesome, as we would only have to cover 10% of the cost. But I’m not getting my hopes up, because I’ve been reading about how some insurance companies find ways not to cover this kind of treatment.

2] Talked to our Early Intervention service coordinator. Hannah is going to start developmental therapy next Wednesday, and we will come up with a game plan for how often and what then.

3] Dr. W., the Gaucher’s specialist back east who emailed with me about 5 times yesterday (God bless him!) told me to find out if Hannah has a specific gene mutation (“If it is N370S, it is very, very unlikely that Hannah has type 3 disease despite her presentation early in life“). Then Dr. B., our amazing pediatrician (couldn’t ask for better), took it upon himself to look it up in the database (since I haven’t heard back from our genetics doctor since yesterday) and found the test results and forwarded them to Dr. W. Hopefully we’ll get an answer soon!

4] Found out that Dr. S., the expert that we were referred to, JUST joined Aetna’s network on 1/1/09! He is covered by our insurance. How amazing is that! We have an appointment with him scheduled from February 12th. It is about a 3-1/2 hour drive, but it will be so worth it.

5] Found out that the Cerezyme treatment is based on weight. So since she is just a baby, it shouldn’t cost anywhere near as much as it would if she was an older child or an adult. So if the insurance doesn’t cover it, that will help at least.

6] Set up an appointment with SSI (Supplemental Security Income) for next week to see if Hannah qualifies for benefits. We could use all the help we can get with these medical bills of hers. But I’ve been hearing that they reject almost 70% of the people who apply and a small percentage of that do get it after an appeal. The lady on the phone was very nice, as Hannah’s situation does “prequalify” us for an appointment. We’ll see.

7] Type 3 is so rare!! OMG, I am having such a difficult time finding parents with type 3 young kids. As a matter of fact, I’ve only found two so far that had infants diagnosed with type 3. I know Gaucher’s disease in general is rare, but apparently type 3 is the rarest of the rare! I’m not giving up though. I’m working to make some contacts through a couple of Gaucher’s organizations.

8] Ordered Hannah’s birth certificates. Two copies. $22 each! I remember when they were only $10 each back in California. I ordered two copies because we are going to need it for the SSI meeting and probably for other programs as well.

I’m probably missing something, but I’ll update later.