Archives for February 2010

A Devastating Blow

10 Feb by Mommy

Daddy lost his job today. After four years with the company and only three months in this dream-job position, he was let go. He is our main source of income plus our insurance was under this job. Hannah’s livelihood and survival to this point has relied exclusively on the generosity of our insurance — the multiple private therapies, orthotics, her gait trainer (which we don’t have yet), procedures, doctors, etc.

We are devastated. Our income is now based solely on my menial part-time job, which in no way could support our family, not even close. He is going to apply for unemployment tomorrow, but everyone knows that won’t even come near to what he was making. Hopefully Hannah’s medicaid will come in within the next month or so, but still —-

I don’t know what we are going to do.

~ Filed Under: Hannah's Fight

Yummy alternatives

8 Feb by Mommy

Strawberry syrup and Redi-Whip joy!

Yes, we know that pretty much all “by mouth” foods are not an option for Hannah anymore, at least for now.  Since we stopped giving her things like goldfish, cheetos, and cheerios, she has not had one gagging episode, not even a little one!   We have not even had to touch the oxygen we have here either.  It is very obvious that her gagging episodes that landed us in the ER twice were all related to her hypersensitive gag reflex, a progressive symptom of her disease.

Our biggest issue is she LOVES putting things in her mouth, especially toys and pacifiers.  Rarely is she without something in her mouth if she can help it.  That’s what makes not giving her food so disappointing because she loved eating her goldfish, cheetos, and other easy finger foods.  It also was a great keep-her-busy activity when we are at a restaurant.

Edible fingerpainting

But safety comes first.  We didn’t want to completely take away the enjoyment of food, so we are still giving her completely meltaway types of foods like Fun Dips sugar sticks, condiments, syrups, and whipped cream.

She LOVES this alternative.  Last night, we gave put strawberry syrup all over her high chair tray along with designs of Redi-Whip cream.   As you can see, it became an edible fingerpainting good time!

I would love to find something non-breakable (chewing wise) that we can put something like syrup or a stage 2 food or something like that inside, and she can chew on it and get the flavor.  I was thinking about a turkey baster type of thing, but that leaks much more than I had hoped.  If anyone has any suggestions, I’m open!

~ Filed Under: Hannah's Fight, Pics and Videos

EEG over and done

6 Feb by Mommy

Hannah's EEG at the NIH, July 2009

Hannah had her sleep-deprived EEG yesterday.

Considering she had woken up at 5:30 am on her own (she was hungry) and I had to keep her up until 1:00 pm, she did pretty well.  It was much more involved than the EEG she did at the NIH where she slept the entire time, especially when they put on the electrodes.

Unfortunately, she did NOT like the electrode placement.  She was exhausted, having someone mess with her hair with goop and gels, and she just did not want to have any of it.  But she made it through, and she went right to sleep as soon as she the technician walked out of the room.

They let her sleep for about 20 minutes or so, then they had to wake her up for another 20 minutes or so.  She did not want to be woken up, but she was somewhat willing to play toys with me in the bed.  Then they did the photic stimulation strobe light thing for about 5 minutes (talk about annoying!).

Hannah's EEG at the NIH, July 2009

The entire process was almost 2-1/2 hours.  I’m so proud of her.  She really did fantastic considering we couldn’t really explain things to her plus the fact she was just exhausted.  Surprisingly, she did not fall asleep on the way home, but she did take a nap around 6 pm for about 30 minutes, and then fell asleep for the night around 8:30 pm.

We should get the results in a week.  In my heart, I really don’t think she is having seizures.  I hope to be proven right.

~ Filed Under: Hannah's Fight

The Fight for Formula

4 Feb by Mommy

We have had great luck with Hannah drinking her Compleat Pediatric formula in her bottle along.  The 4-oz formula, 4-oz whole milk or juice, and stage 2 fruit/vegetable combination has been quite successful.  Based on this meal plan at 5 bottles a day, we would use about 75 cans a month.

Unfortunately, our insurance will NOT cover this formula for us.  Why?   Because Hannah does not have a G-tube or a pump.  They would cover it if it was used in a feeding tube but NOT if it is taken by mouth.  How stupid is that?!

Cost of 75 cans a month?   About $225 a month ($75 for 24 cans)!   That is just for the formula!

Fortunately, a mom I have recently befriended gave us about 12 or so cans that her son was no longer able to use, so we have been able to give her the formula.  However, we are down to our last 3 cans (we have been using about 1 can a day).

Since our Medicaid application was never sent in, we don’t have medicaid yet even though we completed the nursing home visit.  So I am HOPING once that our Medicaid is approved, they will cover the formula cost.

Until then, we just have to suck it up and pay for it.   By the time we get to an appeal with the insurance company, we will hopefully already be on Medicaid.

~ Filed Under: Hannah's Fight

Busy 10 days…

4 Feb by Mommy

We have a lot of stuff going on over the next week or so.

Thursday:  Sleep-deprived EEG, Vision therapy
Friday: Hydrotherapy
Monday: Cerezyme treatment
Wednesday: PT, OT, BAER study
Thurday: Abdominal ultrasound, ENT appt, Speech therapy, Vision therapy
Friday: Hydrotherapy, Developmental therapy

I think out of all the days, next Thursday is going to be the most nerve-wracking.  We have the abdominal ultrasound at 7:30 am downtown where they are going to measure Hannah’s liver and spleen to see where we are at one year after starting the Cerezyme treatments.

We also meet with Dr. Roy, Hannah’s ENT, right after the ultrasound at TCH.    I’m anxious about this appointment, because I know the “trach” conversation is going to be brought up again.  Thankfully, Hannah has not had any more gagging/breathing episodes since we took away her goldfish and cheerios.

But I told myself, when the day comes that Dr. Roy, Dr. B (Hannah’s pediatrician), and Dr. Goker-Alpan (NIH) all agree that it is time for Hannah to get a trach, then I will do it.   In my heart, I just don’t believe we are there just yet, but admittedly I do see it coming in the future if Hannah’s sensitivities increase more.

~ Filed Under: Hannah's Fight

The Scientist Magazine: A Rare Chance

3 Feb by Mommy

Over the course of 5 days last summer, an army of researchers and clinicians examined, poked, and prodded 1-year-old Hannah Ostrea at the National Institutes of Health (NIH). Experts in neurology, rehabilitation medicine, physical therapy, speech pathology, and anesthesiology gave the little girl an EEG, a test of her heart’s electrical activity (EKG), an MRI, a CT scan, X-rays, and a throat exam (laryngoscopy). All this testing was meant not only to help Hannah but in the hope that her rare disease could reveal something about another condition that affects 1 million Americans: Parkinson’s.

Hannah has Gaucher’s disease, and within hours of her birth, it was obvious something was wrong. Looking past her thick head of dark hair, and the fact that she could down an entire bottle of formula in 5 minutes, clinicians quickly saw that her spleen was massive, and her platelet counts were rock bottom. Her liver was expanding—in a few months it looked like she had a volleyball in her stomach. These are the classic signs of Gaucher’s, a rare, recessive genetic disorder in which the body does not produce enough of a lysosomal enzyme that breaks down the fatty substance glucocerebroside, causing it to glob up in cells of the liver, spleen, and other organs—including, sometimes, the brain.

But researchers have never seen the combination of mutations Hannah carries, so doctors couldn’t determine if she had the Type 2 or Type 3 form. Children with Type 2 typically die before their third birthdays, while those with Type 3 can live much longer. “They [wouldn’t] give us a prognosis,” Hannah’s mom, Carrie Ostrea, says. “They came out and said that to us. Which is fine by me.”Hannah has many classic Gaucher’s symptoms, such as developmental delays, and the inability to easily shift her eyes from side to side or up and down. But she also has some puzzling symptoms. For one, she only blinks once every 30 minutes or so—“you’ll have a staring contest with her,” Ostrea laughs. This is not a symptom of Gaucher’s disease, but it is a symptom of Parkinson’s.

Indeed, in recent years, researchers have been noting more and more crossover between the two diseases, and the hope is that insights into one will reveal secrets of the other.

In an October issue of the New England Journal of Medicine, Ellen Sidransky at the NIH and her colleagues found that Parkinson’s patients were five times more likely to carry a mutation in the gene associated with Gaucher’s disease. Furthermore, Parkinson’s patients with the mutation in the Gaucher’s gene tended to develop Parkinson’s earlier, and were more likely to have family members with Parkinson’s (N Engl J Med, 361:1651–61, 2009). It’s unknown how many people have signs of both diseases, Sidransky notes, but it’s “clearly dozens and dozens.”

Still, Parkinson’s and Gaucher’s are more different than they are alike. One comes from a deficiency of the lysosomal enzyme that breaks down glucocerebroside, the other likely from a deficiency of dopamine, and it’s largely unclear why the two diseases are linked, says Sidransky. Perhaps the lysosome plays a role in Parkinson’s; the protein misfolding that underlies Parkinson’s may be aggravated by mutations in the Gaucher’s gene.

Gaucher’s itself is an interesting model for trying to understand single-gene diseases, Sidransky adds. She and her colleagues like to invite patients with rare presentations of a disease to the NIH to study them and hopefully learn something about an entirely different condition. “I’ve always been convinced that focusing on one thing and becoming an expert helps you see connections” between that one question you’re investigating and other unanswered—perhaps even more significant—questions.

The NIH visits can be long, but Hannah held up fairly well, her mother says. She didn’t like waking up from the EEG and being tied down, and didn’t like the heart ultrasound, but the neuro-ophthalmologist got her to laugh hysterically by turning his video camera around so she could look at herself. “She just thought that was the funniest thing in the world,” Ostrea says.

~ Filed Under: Hannah's Fight
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