Wow, I never thought I’d see this!

When I first created my Hope for Hannah cause on Facebook, my realistic goal was to max out at about 100 or so members.  We hit 400 members today.  I figure probably 90% of them had never heard of Gaucher’s Disease before, and that is a lot of awareness that we have created so far.  I do have plans to ask of the members in the future, but for now, my main goal is to just “spread the word” and let people know what GD is and what it can do if we don’t find a cure or, for type 3, a treatment.

Thanks to all of you who have joined, and please keep spreading the word!

Yep, a new genetics doctor it is!

It is official. 

Hannah’s “case” is being taken over by a new genetics doctor.  She is a world reknown expert on lysosomal storage diseases, and the director of genetics at that hospital.  The youngest patient she had ever seen with Gaucher’s was 6 years old, so she is very interested in working with us because of how young Hannah presented with Gaucher’s (at birth).  From what the local Genzyme rep told me yesterday (who gave me a heads up that this might happen), she definitely knows her stuff.

We are still keeping our appointment with Dr. S., the Gaucher’s expert, up in Dallas.  However, Dr. E (the new doctor) will be taking over as Hannah’s primary doctor for Hannah’s condition.   After all, Dr. S. is a Gaucher’s specialist whereas Dr. E is more generalized in all the lysosomal storage diseases (including Gaucher’s and Niemann Pick Disease).

It really is a great feeling to know that we are getting two of the best doctors in the country for her now.  Since she is a novelty in this Gaucher’s Disease world, she is definitely getting a lot more attention than I would have expected.  Like I keep saying…maybe she holds the answer for a cure or new treatment!  (Hey, a mom can dream!)

Auditory Brainstem Response Test

I just got back from Little Girl A’s ear doctor appointment.  She had a bloody granuloma (mass of puss) in her left ear last month that had to be cleaned out.  Today was just a checkup.  Both ear tubes are clogged with wax, so for the next two weeks, we are to put hydrogen peroxide in her ears twice a day and see him back in a month.

While I was there, I asked him about this “sedated hearing test” that Hannah has to go through next month since the genetics doctor didn’t even give me any details other than having Audiology call to set up an appointment (bitter?  No, not me.)

It is called an Auditory Brainstem Response Test (or ABR).  The picture on the left is NOT Hannah, just an image of what the test setup looks like.

Details from the test are below.  Basically, he said that they are using this test to create a baseline of Hannah’s nerve conductions to her ears to be able to follow her hearing patterns and look for hearing loss to compare against future ABRs to see if there is degredation in her hearing (type 3).  I’m so glad SOMEONE was willing to explain it to me, even if it wasn’t one of Hannah’s doctors!

 Auditory Brain Stem Response Testing for Infants and Children

What is an ABR test? 

Your infant or child has been referred for an auditory brain stem response, or ABR, hearing test by their physician or by an audiologist who has performed hearing screening in the nursery. Auditory brain stem response testing is a painless and harmless test involving the measurement of electric responses recorded from the hearing nerves and brain by means of small, disk-like electrodes taped behind each ear and on the forehead.

How is the test performed?

Small foam-tipped earphones will be positioned in your child’s ears for delivery of sounds. It is preferable and more reliable to perform this test while your child is asleep. For that purpose, some children need to be sedated, usually with oral medication that will be administered by a registered nurse. If sedation is required, your appointment will also include a medical evaluation prior to the auditory brain stem response hearing test. Whether your child will or will not be sedated for the purpose of this test, you can help us by not allowing your child to sleep during the 2 to 4 hour period preceding the test. This test is performed in a semi-dark, soundproof room. Your child may be held in your arms or will be laying on a cot during testing. The test will be administered by a certified clinical audiologist. After preparing your child with the recording electrodes and earphones, the audiologist will conduct the test using a computer that is outside the room. The audiologist will record and monitor responses first on the screen of the computer, and later will print out the tracings. These tracing can accurately tell us your child’s hearing sensitivity. If the results of the test suggest some degree of hearing loss, you may be referred for further testing.

Did you know…

Did you know that Gaucher’s disease is pronounced GO-SHAY’s disease?

New Genetics Doctor?

I just got off the phone with our local Genzyme rep, really great guy.  He is a clinician who works with Genzyme patients and the hospitals, sort of our liaison.

He wanted to give me a heads up because he thinks Hannah may be being switched from Dr. G. in genetics to Dr. E., since Dr. E. is a world reknown expert in lysosomal storage diseases (in which Gaucher’s is one).  He also wanted me to call Dr. E’s clinic assistant because they have some questions before the first infusion.   He can’t say for sure, but that is what seems to be happening.

I’m not going to complain…but I would love to know what happened behind the scenes to make this change!

Letter to the Congressman…

This letter is going to be presented to a congressman working on the bill I mentioned last night, HR 5748.   I hope I made it powerful enough to catch his attention!

Dear Congressman,

One of my cherished roles in being a mother is to guide my three children on the path to following their dreams and to pursue the career of their choice.   For my two oldest children, I can encourage them to reach for the stars and dream big.  For my youngest daughter, I have to tell her that she cannot dream.

My youngest daughter, Hannah, is six months old.  She was born with an enlarged spleen, enlarged liver, and extremely low platelets.   She has suffered through numerous procedures (IVIg transfusions, platelet transfusions, skeletal surveys, skin biopsies, etc.) and probably has had more blood draws than most adults.  Finally, after five months of searching for a diagnosis, we now have one.  Gaucher’s Disease, type 1 or type 3.

Hannah has one of the most severe forms of Gaucher’s disease, as her body produces absolutely no enzyme to help break down the fat in her body, so it gets stored in her spleen, liver, and possibly her brain (type 3).  It is incredibly rare for a newborn to display this disease, so we feel we are travelling a road that very, very few have travelled before us.

For the physical aspects of this disease, she will be starting Cerezyme treatments via IV infusion every two weeks for the rest of her life.   Picture if you will, an infant baby girl having to be painfully pricked with an IV and attached to a machine for 3 to 4 hours every two weeks in order to save her life.  How does a mother explain this to a baby, a toddler, or even a young girl?

Cerezyme is one of the most expensive drugs on the market today.  As an adult, the cost of her treatment will average about $250,000 to $300,000 a year by today’s standards.  Even as an infant, the Cerezyme alone will cost over $30,000, and this doesn’t include other related medical bills such as doctor visits, use of the infusion center for the treatments, possible upcoming surgeries, etc.

Because of the numerous doctor appointments, weekly therapy sessions, and Cerezyme treatments every month, I am unable to return to work.  We are now living off our small personal savings along with my husband’s income from his job to raise our three children in addition to dealing with our mounting medical debt.

We applied for Supplemental Security Income to give us a little assistance.  We were immediately turned down once I shared what our current income was.  Just like that, our chance for any help was dashed.  What was even more shocking is that our income is not that great compared to most families of five.  My husband and I have both been regularly employed for over 20 years, never needing government assistance.  We have been “paying into the system” for years, and now when we need help from the system we have been funding for over two decades, the door gets slammed in our face.

Our family has gone from living a comfortable two-income middle-class lifestyle with a small savings to now being faced with possible future bankruptcy because of the cost of medical treatments and procedures for our daughter. 

What makes matters worse is that Hannah is never going to get the chance to make a decent income as an adult.  Since most insurance companies would probably not insure her because of the cost of her treatments, she is going to have to rely on Medicaid to cover her treatments.  In order to qualify for Medicaid, she has to settle with only being able to work a low paying job.

How do I tell my daughter that her brother and sister can strive for any job in the world, but you have to resign yourself to the fact that you can’t have a “dream job” and instead will have to take a low-paying job for the rest of your life just to save your life?

Because of her Gaucher’s Disease, she has already been given monumental life obstacles to deal with over her lifetime.   But this disease does not take away her ability to dream.  You have the opportunity to give my daughter the chance to dream and to be anything she wants to achieve by supporting bill HR5748. 

Thank you,

 

HR5748 – First step towards change!

I got a phone call from someone representing the Ryan Dant bill, HR-5748.  She is heading to Washington this week to meet with a congressman about getting this bill moved forward.  ”H.R. 5748 would amend title XIX of the Social Security Act to permit States to exclude earned income in determining eligibility for medical assistance for individuals with extremely high prescription drug costs.” 

This bill will directly affect Hannah in so many respects.  With the laws the way they are now, if Hannah is able to get insurance coverage when she is an adult and she hits the maximum cap, then she would have to apply for medicaid for her life-saving bi-weekly treatments.  In order to qualify for medicaid, her income has to be below a certain level.  This means that Hannah would not have the opportunity to strive for the job of her dreams; instead, she would have to resign herself to a low-paying job in order just to have her medical treatments.  How do I tell my daughter that her brother and sister can strive for any job in the world, but you have to resign yourself to the fact that you can’t have a “dream job” and instead will have to take a low-paying job for the rest of your life just to save your life?

H.R. 5748 provides an alternative to individuals facing a similar situation, by allowing a Medicaid state option that would permit individuals to be released from the qualifying earnings restrictions. This legislation would apply only to individuals who pay more than $250,000.00 per year in prescription drug costs and have exhausted at least $1,000,000.00 in private insurance coverage. (NGF)

I was asked to write a 3 to 4 paragraph letter to the congressman this evening sharing our story to be presented at this meeting.  I was also asked that if requested, would I consider testifying in congress about our personal situation with Hannah.  Absolutely, unequivocally, without a hesitate, hell yes I would!!  I will admit, there is the selfish part of me that would be so proud to be able to truly be able to fight first hand for Hannah to have a better future.

I’m going to work on that now, and I will post it in the morning to share.

This bill would give Hannah the chance to dream to become anything she wants to be.  How can I not do everything and anything I can to give her that opportunity?

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