1st Annual Conference on Rare Diseases & Orphan Products

Stellar Lineup of Speakers Announced for U.S. Conference On Rare Diseases And Orphan Products Join all stakeholders – patient advocates, researchers, government, industry, investors – in this 1st annual summit featuring thought leaders and focusing on collaboration! You are invited to the 1st Annual U.S. Conference on Rare Diseases and Orphan Products to be hosted by the National Organization for Rare Disorders (NORD) and the Drug Information Association (DIA). Additional support for this conference is being provided by the Food and Drug Administration (FDA), National Institutes of Health (NIH), European Rare Diseases Organization (EURORDIS) and Duke University School of Medicine. There will be separate tracks for patient advocates and organizations, researchers/drug and device companies, and investors. The conference will incorporate the well-received rare disease investigators training course offered by FDA for the first time last year. NORD is the voice of the nearly 30 million Americans who have rare diseases. DIA is a nonprofit, global professional association of more than 18,000 members who are engaged in the discovery, development, and management of pharmaceuticals, biotechnology, medical devices, and related health care products. The event will take place October 11-13 at the Omni Shoreham Hotel, Washington DC. Speakers will include: NIH Director Francis S. Collins, MD, PhD Social Security Commissioner Michael J. Astrue, JD John F. Crowley, Chairman and CEO, Amicus Therapeutics Fred Hassan, MBA, Partner, Warburg Pincus, Chairman of the Board, Bausch and Lomb Mark B. McClellan, MD, PhD, Director, Engelberg Center for Health Care Reform, The Brookings Institution Frank J. Sasinowski, MPH, JD, Partner, Hyman, Phelps & McNamara Jeffrey Shuren, MD, JD, Director, Center for Devices and Radiological Health, FDA Janet Woodcock, MD, Center for Drug Evaluation and Research, FDA Margaret Anderson, Executive Director, FasterCures Kelly C. Slone, Director, Medical Industry Group, National Venture Capital Association Suzanne L. Bruhn, PhD, Senior Vice President, Strategic Planning & Program Management, Shire Human Genetic Therapies For patient advocates and patient organizations, there will be a separate track of presentations focused on strategic planning, growth, and effective advocacy for the patient community. In addition to the three tracks, all stakeholders will join together in high-level plenary sessions to discuss how the various interests can collaborate more effectively. If you can only attend one rare disease/orphan product conference this year, this should be the one! It will provide a unique opportunity for thought leaders from all perspectives to address the issues and seek ways to drive progress toward safe, effective treatments for patients. REGISTER ONLINE NOW! Limited scholarship assistance may be available for patient representatives Online registration for this unique event is now open on the DIA website. For representatives of patient organizations, limited scholarship assistance may be available. Patient representatives interested in applying for scholarships may write to Audrey Ashley at NORD (aashley@rarediseases.org) and request an application form. There will also be limited exhibiting space for companies and organizations. Inquiries about this may be directed to Shannon Lewis at DIA (shannon.lewis@diahome.org).Tel 215 442-6149. THREE TRACKS FOR PARTICIPANTS Attendees will benefit from discussions on the FDA and NIH processes, health care reform, changes in insurance reimbursement, off-label issues, and de-risking investments. Specific topics for the three tracks will include: For Researchers, Drug and Device Companies: Senior medical officials from FDA and NIH will discuss product development, how to develop a new product, and how to comply with NIH grant and FDA approval requirements. The conference will provide a platform for addressing the unique challenges faced by companies in the development of orphan products and how to avoid common pitfalls. Industry leaders and senior agency officials will discuss how to work with federal agencies on everything from grants to orphan designation and clinical development to product approvals. For Patient Advocates and Patient Organizations Learn how you can become more effective advocates for the patients you represent. Learn about the new and emerging federal policies that affect patients with rare diseases. Learn how the government and private sector are addressing the special challenges faced by patients in the new health care environment. Meet individuals who run patient organizations efficiently and creatively to advance the interests of patients and how best to organize for effective advocacy. For Investors: Explore the new concept of venture philanthropy and how it will affect research funding. Gain a better understanding of how the FDA and NIH work and how they interact with the drug and device development processes. Learn ways to de-risk your investments in orphan products and understand better the timelines for research and regulatory reviews.

Crying Tears.

Bertrand is crying real tears. The only change in his daily regimen has been the addition of a B-12 supplement.

We are using a transdermal B12 patch and oral B12 supplement.

Of course, I've been on a research binge for the past few days. Here are some bits and pieces floating through my head...

• B12 is stored in the liver. (Bertrand has liver damage.)
• B12 is water soluble. (An overdose on B12 is near impossible.)
• B12 is expressed in bile.
• Actigall (ursodiol) is a bile acid. (Bertrand's liver has improved on actigall.)
• B12 deficiency in infants causes movement disorder & developmental delay...

When Bertrand was a baby, we'd thought for certain that he was a case of B12 deficiency. His neurologists shot this theory down because of the important fact that Bertrand was/is not anemic. Folate can mask B12 deficiency, but he should still show some signs of anemia.

But this image is haunting me:

The MRI above is from THIS article, entitled "Involuntary Movements and Magnetic Resonance Imaging Findings in Infantile Cobalamine (Vitamine B12) Deficiency", published in PEDIATRICS: Official Journal of the American Academy of Pediatrics back in 2003.

Does "bilateral periventricular symmetric high-signal lesions in the white matter on T2-weighted images" sound familiar?

You can bet this will be discussed with Bertrand's pediatrician on Tuesday!

Corneal Erosion: Genetic Condition or Side-Effect?

Victoria "styling" Bertrand's hair this morning.

This is just a quick update (read: vent) on what I've been up to regarding Bertrand. Since his keppra wean, he has been having the least number of seizures since ACTH! As a result, he is also more vocal and interactive. Unfortunately, the seizures that he IS having are sleep-related and disturbing to watch. More on that later.

All summer Bertrand's corneal erosion has not improved despite eye drops or ointment every 2 hours. In case you are wondering, that is $50 worth of eye goop every week. It is also a very upsetting process for Bertrand and time-consuming for us. And yet, I am plagued by the feeling that I am losing the battle to save his eyes. If he is this bad now, in the summer, with a humidifier in his room, how bad will it get in the dry Utah winters?!

I've been feeling defeated. It's not a feeling I am comfortable with, so I got to thinking...

It was not always this way. While Bertrand didn't cry tears (alacrima), he wasn't battling constant eye infections and corneal erosion. This all started back in January, before depakote, but a month AFTER ADDING LAMICTAL. A quick google search confirmed that dry eyes are a common enough side-effect of lamictal.

After leaving 2 messages with neurology and 2 emails to her, I finally heard back from Bertrand's neurologist last night. I feel like she blew me off. Bertrand's eyes and seizures could wait until she could see him at his September 20th appointment.

NO. WAY.

My baby boy has suffered long enough. Corneal erosion is extremely painful. As per my last discussion with his ophthalmologist, Bertrand is facing surgery to sew his eyes partially shut to reduce the amount of surface area and thereby the moisture he loses by them. As it is, his corneal scar is occluding his pupil and damaging his vision.

This is unacceptable.

Yes, seizures suck, but Bertrand needs to be seen as a whole. It is possible that depakote may be enough to control his seizures. Or maybe lamictal isn't to blame and he does need the surgery. Either way, we need to test and see because Bertrand deserves this chance.

I've spent the morning fighting for my boy, calling in the "big guns". Wish me luck.

UPDATE:

This afternoon, I spoke with Bertrand's Pharmacist (the one who once opened the pharmacy on a Sunday just for us, after we forgot to pick up his medication). According to him, Lamictal can cause dry mouth and other ocular issues, but "dry eyes" as a symptom were not in his literature. He recommended some eye ointments/drops that were new to the market. He also recommended a prescription about which we should speak to Bertrand's ophthalmologist.

From my own research, I learned that Lamictal is a (modest) inhibitor of the enzyme dihydrofolate reductase, which completes the two-step activation of dietary folate into the bioactive form, tetrahydrofolate. A B-12 deficiency would increase the adverse effect potential of the Lamictal. Dry eyes can be a symptom of B-12 deficiency...

So, TONIGHT, Bertrand starts some new sublingual vitamin B supplementation (THANKS, AMY!) and new eye drops. ;) Bertrand will see his pediatrician about all of this on Thursday. His neurology appointment was moved up a little earlier to September 1st. Grr.

Victoria turns 3 months old!

A Tale of Mama's Instinct

Titi Aury reads to Bertrand.

Remember back in March how Bertrand was facing the prospect of phenol injections in his right adductor muscle to help with his hip subluxation? How I cancelled the appointment just a few days beforehand because I didn't feel right about it?

Well, today was Bertrand's 6 month follow-up, and my actions were justified in a big way! His subluxation has stayed the same and, very significantly, his adductors are not tight AT ALL.

So, muscle tightness isn't to blame for the subluxation! Phenol injections would've been ALL pain for NO gain. Going forward, all we can do is keep him standing as much as possible & keep an eye on his hips. Surgery may still be in his future (but I doubt it).

To my great relief, Bertrand is being fitted for a soft back brace tomorrow to help with his spinal curve. Currently, it's a functional, as opposed to structural, curve. In 6 months, he is seeing a spine specialist & may move to either a corrective brace (worn at night) or a form of serial casting therapy.

My mommy spidey sense tingles with the belief that this posture correction may help Bertrand's hip more than just about anything. Let's see if I can go 2 for 2 on orthopaedics. :)

Visiting Great-Grandma

Bertrand and Victoria went to visit their great-grandma today. She has not been feeling well, but seeing her favorite great-grandkids cheered her up! She enjoyed seeing the changes in Victoria, and there was no stopping her from feeding, playing with and reading to Bertrand! She is an amazing great-grandma. :)

A (tiny) happy dance.

Bertrand working out with his "personal trainer".

Bertrand's gastroenterology appointment this morning was just the good news I've been needing to hear. Starting with Bertrand's stats, he measured:

• 39.5 inches (just above the 50th percentile for height)
• 36 pounds (just below the 75th percentile for weight)

I could've happy danced for these numbers alone! All of our hard work with his diet and exercise (standing, gait trainer, horseback riding, etc.) have paid off. We have only a few more inches taller (or pounds smaller) to go to reach normal weight-for-height!

Then, his Doctor came in and said that, looking at Bertrand's most recent liver enzyme levels drawn in May, if Bertrand had been a new patient he would've wondered why B would need to see a GI doc! His liver appears almost entirely normal!

We shared a laugh that Bertrand is probably the first person in history to have their liver enzymes DECREASE while on depakote. But, due to the depakote, the GI Doctor would like to continue vitamin D and carnitine supplementation to protect the liver.

However, he now feels that we can wean Bertrand's prevacid! (While watching for signs of reflux.) And, in 6 months, we can begin a cautious actigall wean as well! (While monitoring his liver enzymes.)

That may not seem like a lot, but 2 fewer medications (administered a total of 4 times daily) is 1 step closer to a more enjoyable childhood for my precious boy. And that's worth celebrating!