So few seem to care about rare disease…why?
March 12, 2010 by Mommy
Filed under Vents and Frustrations
Vote for the Top 10 Ideas for Change in America
I don’t know why I am taking this so personally, but rare disease has dropped down to 11th place on Change.org’s program where they will use their huge supporters and connections to assist those top 10 causes – We went from number 1 down to number 11!!
People seem to care more about chimpanzees, prison time for good behavior, and gardens in kid’s schools than they do about saving the lives of innocent children who are dying from and surviving with rare diseases! Seriously! It really is frustrating me because I…just…don’t….get…it!
Do people just see the link and say “well, someone else will do it?” Do people who vote on this really care more about freeing chimps than saving children?
We only have a few hours left, 15 or so I think. I hope to all hope that we can make the top 10.
Would you please, please, please vote and help me spread the word. We need to make that top 10, we really do.
A Devastating Blow
February 10, 2010 by Mommy
Filed under Family Life
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.
The Scientist Magazine: A Rare Chance
February 3, 2010 by Mommy
Filed under Bloggin' Mama, Parkinson's Link
http://www.the-scientist.com/article/display/57100/By Alison McCook
A rare chance
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.
First ER visit for breath-holding spells
December 1, 2009 by Mommy
Filed under Coping, Life with GD23
We made it 16 months without a hospital visit since Hannah was born.
Hannah had these hyperventilation episodes when she gets upset or frustrated. It doesn’t happen often, although it seems to be happening a bit more now (mostly when we are driving long distances and she gets antsy or when she starts throwing a tantrum). There were also about 3 episodes where she would start choking on a piece of food (cheerios, goldfish, or vienna sausage), and she would have what seems like a panic attack and stop breathing for about 30 seconds or so even though the food has been dislodged. During both the hyperventilation episodes as well as the panic attack episodes, we would just hold her and cuddle her, and she would calm down.
This afternoon, she started choking on a cheerio while sitting in her high chair (I think). She started panicking, and she went into another one of her episodes where she starts freaking out and stops breathing and acts as if she is choking. I wasn’t able to calm her down this time, and a few minutes into it, she started turning blue around the mouth, so we called 911.
It was just me with Abigail and Ethan. Ethan was freaking out a bit, and Abby just sat there eating her chips almost trying to tune it out. I felt so horrible for them, even though I was trying to act very calm. By the time the paramedics and firemen came (a big truck and an ambulance) and it was decided to take Hannah to the ER, I sent the kids over to my neighbor’s house. Looking back, I probably didn’t handle that the right way, but I was really scared at that point.
In the ambulance, her O2 sats were down a bit (I believe between 92 and 95), and she was still acting panicky and trying to catch her breath but also very upset. The paramedics suggested we take her to the ER with lights and siren to get her checked out. By the time we got to the hospital, she was calmed down, 02 sats were better, but she was a bit lethargic for about 5 minutes. She calmed down completely while they gave her a breathing treatment (may or may not have helped) and came back to complete normal a few minutes after that. Then she fell asleep for almost 3 hours there. Chest Xray was clear.
The paramedic who was in the ambulance with her said it was almost like she was having a seizure, but she wasn’t.
Long story short, the ER pediatrician believes she has breath-holding spells with seizure-like activity based on her history and today’s event. She also believes that because she has the weakened vocal cords and laryngomalacia, it may or may not have exacerbated this. After reading this Webmd article, this sounds exactly like what we have been seeing for the past few months.
The ER pediatrician put her on an oral steroid for three days because she was concerned about inflammation “just in case.” Also, she believes Hannah may have croup, but she is not sure.
She is back to being completely normal acting now, back to her happy self with normal breathing.
I have absolutely no idea whether or not this is related to her Gaucher’s disease or perhaps it is just exacerbated by it. Or maybe it isn’t even related at all to it, and it is just another something we have to deal with.
Regardless, because of the severity of what these spells can bring, we have had to prepare ourselves for more 911 calls and ambulance rides to the ER because of it. We also warned Ethan and Abigail that she has this condition, and it may happen again. We need to work on an actual plan in case something like this happens again.
My “person”
I read an article a while back that when you are going through this “special needs/life-limiting disease” lifestyle change, you need to find just one person who you can connect with completely. Someone who understands your fears, your chaotic thoughts, and your many stages of grief. It can’t be your spouse or family member, the article said. It had to be someone else who is invested personally in this journey.
I feel so lucky to have found my “one person.” She is a mom who has a child with similar issues as we have been presented with Hannah.
There are so many emotions that I have been feeling over the past few months, and she is the only one who I can come to completely about my thoughts, not worrying if I’m not being politically correct or not. Just laying my feelings out there as they are — raw, naked, and the complete truth. She gets me. She is living the same thing I am to some extent, and she and I just have that understanding.
I think this relationship was solidified when we were able to meet in person. She is no longer just an email address, but she is a mom who I can share laughs with about the ridiculousness of some of our situations, the fears that we both face with losing our children, and the stresses about transitioning to a special needs lifestyle from one where I was told my child probably wouldn’t live one year.
I am so so so so so so thankful for her.
Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
November 6, 2009 by Mommy
Filed under Bloggin' Mama, Gaucher's - News
This could be HUGE!!! I’m waiting to hear back from Genzyme to get more details — Cerezyme, Genzyme’s product, delivered to the brain! That could be what we have been waiting for!!!!
http://www.genengnews.com/news/bnitem.aspx?name=67331403
Nov 3 2009, 11:02 AM EST
Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
GEN News Highlights
Genzyme and Netherlands-based to-BBB established a research collaboration to evaluate the use of the latter’s G-Technology™ to transport biologics against neurodegenerative diseases across the blood brain barrier (BBB).
G-Technology has been developed to transport different classes of drugs directly across this barrier using glutathione-coated liposomes. The company’s research partnership with Genzyme follows on from a similar agreement with MedImmune, signed in September.
Liposomal formulation allows the encapsulation of a wide range of compounds and biological molecules without changing their function and protecting them against degradation and immune responses, according to to-BBB. Coating liposomes with PEG further ensures a prolonged circulation time in plasma. Conjugation of glutathione to the tips of the PEG molecules targets the liposomes toward the active glutathione transporters on the blood-brain barrier, the firm explains.
to-BBB’s lead in-house project is 2B3-101, a G-Technology formulated doxorubicin, currently in preclinical development. A Phase I/II trial is expected to start during the second half of 2010. Additional preclinical-stage in-house projects are ongoing in diseases including Alzheimer’s and lysosomal storage diseases.
The Parkinson’s Disease – Gaucher Disease link
October 23, 2009 by Mommy
Filed under Bloggin' Mama, Gaucher's - News, Parkinson's Link
What we have known for a few months has finally started hitting the mainstream media now as well as some other medical sites. There are just a few….
Question is, now how can we capitalize on this and get the Parkinson’s community to start paying attention to our Gaucher kids?
Gaucher disease linked to Parkinson’s – Los Angeles Times
Mutant Gene Raises Risk of Parkinson’s (WebMD)
Glucocerebrosidase Mutations in Parkinson’s Disease New England Journal of Medicine (subscription)
Study Conclusively Ties Rare Disease Gene To Parkinson’s – Medical News Today
