Brampton woman struggles with multiple rare diseases (Sherri from Canada)

Brampton woman struggles with multiple rare diseases
more from Link above, xx soft hugs xx

three years ago, Jones was in an accident and even though she did not sustain any major visible injuries, few days after the incident, she began experiencing excruciating pain in her shoulders, head and rest of her body.

“I felt electrical shocks burn their way from my neck to my arms, down my spine into my sacral area, then stretching on to every limb,” she recalled. “Sharp and intense pain in center of my head woke me from my sleep every night. The pain was unbearable and no one knew why.”

Subsequent testing revealed the presence of three rare spinal cord cerebral spinal fluid (CSF) filled cysts. Turns out, Jones had Tarlov Cyst Disease, a rare disorder. The cysts in Jones’ body were responsible for the acute pain and nerve damage. Once someone has Tarlov cyst, traumatic injury such as a fall or an automobile accident can aggravate the symptoms and cause pain.

Further testing brought more bad news. In addition to CSF, the Bramptonian was told she has advanced spine degeneration and aqua ductal stenosis for which she will need brain surgery.

“You get stuck in the pain and you don’t know how to talk to your friend or family about it,” she said. “You withdraw from every one.”

To add to her existing woes, the insurance company rejected her claim by saying Tarlov Cyst Disease does not cause pain and that Jones’ condition was a pre-existing one. The insurance company opted to quote an early and outdated research conducted in 1938 on Tarlov Cyst Disease which had concluded that the disease do not cause pain in patients, but subsequent findings have debunked the original notion, Jones explained.

In 2011 the Brampton resident underwent a spinal surgery because of which she’s now able to sit without being in pain. Most people watching Jones walk with a cane assume her discomfort is minimal. But, that’s simply not the case.

Oct 2013 – Pain Product Announcements & Warnings

Friday, October 4, 2013

Oct 2013 – Pain Product Announcements & Warnings

Featured Items: ustekinumab (Stelara) approved for active psoriatic arthritis; fentanyl pain patch color change; new safety measures for ER/LA opioid analgesics; new 15-mcg/hour dose for buprenorphine patch (Butrans); fluoroquinolone warning of peripheral neuropathy risk; MOTRIN drops product recall; Ortiga safety warning regarding hidden drug ingredient; new warnings for Arzerra and Rituxan; bupivacaine single-dose vial recall.— All brand names are trademarks of their respective manufacturers. Compiled by Winnie Dawson, MA, RN, BSN.
Ustekinumab (Stelara®) – FDA Approved for Active Psoriatic Arthritis Janssen Biotech announced a September 2013 U.S. Food and Drug Administration (FDA) approval of Stelara for adult treatment of moderate to severe active psoriatic arthritis in patients who are appropriate candidates for phototherapy or systemic therapy. It is the first human interleukin antagonist (IL-12 and IL-23) therapy approved for psoriatic arthritis — a chronic autoimmune disease that can cause pain, joint inflammation, and skin lesions. . . . Stelara is administered alone, or in combination with methotrexate, as a subcutaneous injection of a 45-mg or 90-mg dose, based on patient weight. The approval was awarded following the results of two Phase 3 multicenter, randomized, double-blind, placebo-controlled trials (PSUMMIT I and PSUMMIT II) that evaluated more than 920 patients who met the pre-established criteria for tender and swollen joints and C-reactive protein (CRP) levels in spite of previous conventional therapy. Injections were administered at week 0 and week 4, then every 12 weeks. At week 24 of the PSUMMIT I trial, 42% and 50% of patients treated with 45-mg and 90-mg respectively, met the primary endpoint for the studies. They achieved at least 20% improvement in signs and symptoms as defined by the American College of Rheumatology criteria (ACR20), as well as reports of improvements in the soft-tissue symptoms of the disease. Results of the PSUMMIT II trial were similar at week 24, with ACR20 improvements in 44% of patients receiving either 45-mg or 90-mg of Stelara.
Because Stelara can lower a person's infection-fighting power, a risk-benefit ratio should be evaluated in patients who have underlying health conditions that make them prone to infection. Allergic reactions and bacterial, viral, and fungal infections in patients taking human monoclonal antibodies have been reported to be serious, even fatal. Healthcare providers should arrange testing for latent tuberculosis before initiating treatment and should also ask patients if they are currently being treated for infection. Stelara can also result in an increased risk for certain types of cancer. For full administration and safety instructions, read the Stelara prescribing information and medication guide.
Fentanyl Pain Patch – FDA Requires a Color Change The FDA released a September 2013 safety communication announcing a decision to require a change in the color and ink durability for the printed text on the Duragesic and generic fentanyl pain patches in an effort to make them more easily identified. The safety notice also reminds healthcare practitioners and patients that used patches should be disposed of properly because they can contain enough pain medicine to be dangerous for others, including children. The decision was made in light of the deaths of 2 more children following the FDA’s pain patch safety warning delivered in April 2012. See the FDA Drug Safety Communication for further details.
ER/LA Opioid Analgesics – New Safety Measures from FDA In September 2013, the FDA released an announcement on its decision to require safety labeling changes and post-marketing study requirements for all extended-release and long-acting (ER/LA) opioid analgesics. The labeling changes, including a boxed warning on the use of these products during pregnancy, are intended to help reduce misuse, abuse, addiction, overdose and death in patients using opioid analgesic products. For an in-depth discussion on the issues surrounding these new safety measures, see the September 10th Pain-Topics UPDATE article on this topic. Also, see theFDA News Release for more information on the goals of the proposed changes.
Buprenorphine Patch (Butrans®) – New 15-Mcg/Hour Dosage Approved Purdue Pharma announced a September 2013 FDA approval of an additional 15-mcg/hour dosage strength for the Butrans Transdermal System. This opioid analgesic product delivers continuous drug release for 7 days and is indicated for the management of moderate to severe chronic pain in patients who require extended around-the-clock treatment. With 4 available strengths — 5-, 10-, 15-, and 20-mcg/hour — healthcare practitioners will have more titration options. Purdue plans to launch the new 15-mcg/hour strength in October 2013. For complete administration and safety instructions, read the product’s prescribing information and the Risk Evaluation and Mitigation Strategy (REMS) program.
FDA Safety Warning – Fluoroquinolones May Cause Peripheral Neuropathy The FDA renewed its safety warning regarding the potential for fluoroquinolone antibiotics to cause sudden and potentially permanent nerve damage. The risk of peripheral neuropathy in patients taking fluoroquinolones by mouth or injection was originally reported in 2004, but a recent FDA review revealed that existing warnings were inadequate. Peripheral neuropathy can begin within a few days of initiating fluoroquinolone treatment and may cause numbness, weakness, burning, or shooting pains that can cause long-lasting or permanent nerve damage. See the FDA Drug Safety Alert for further information, a list of approved fluoroquinolone drugs, and a link to the FDA’s MedWatch Adverse Event Report form.
Product Recall — MOTRIN Infants’ Drops Original Berry Flavor
In September 2013, McNeil Consumer Healthcare alerted pharmaceutical distributors, retailers, healthcare providers, and the public to a voluntary recall of 3 lots of 1/2 fl oz bottles of concentrated MOTRIN Infants’ Drops Original Berry Flavor. Following the release of these lots, tiny plastic particles about the size of a poppy seed were identified in a different lot of the same batch. The particles were found to be contained in the ibuprofen supplied by a third party and action has been taken to correct the situation for the future. McNeil believes that the potential for patient adverse events related to this recall are unlikely but made a decision to be extremely cautious. See the FDA Recall Announcement for additional information, including a link to the McNeil Press Release containing lot number and product information.
FDA Safety Alert – Ortiga Contains Hidden Drug Ingredient The FDA announced safety concerns for the unapproved product sold as Ortiga because it contains the prescription drug ingredient diclofenac, a non-steroidal anti-inflammatory drug (NSAID). NSAIDs can be associated with an increased risk of cardiovascular events and serious gastrointestinal damage. Diclofenac may also interact with other medications to cause serious adverse effects. The product is made in Mexico and is sold online and in retail stores. See the September 2013 FDA Drug Safety Alert for further information and a link to the FDA’s MedWatch Adverse Event Report form.
FDA Safety Notice – New Warnings for ofatumumab (Arzerra®) and rituximab (Rituxan®) The FDA issued a September 2013 announcement regarding new Boxed Warning information on the potential for the risk of reactivation of hepatitis B virus (HBV) infection in patients taking the anti-cancer drugs ofatumumab and rituximab. Rituximab has also been approved for other medical conditions, including therapy for rheumatoid arthritis. These products can impair a patient’s immune system and increase the potential for a previous HBV infection to become active again. These infections have caused serious liver disorders, including liver failure and death. New Boxed Warnings will be added to both product labels; healthcare professionals are encouraged to discuss the risks with patients. See the FDA Drug Safety Communication for additional information for healthcare practitioners and a link to the FDA’s MedWatch Adverse Event Report form.
Product Recall — Single-Dose Vials of Bupivacaine HCL Injection
In September 2013, the FDA issued a safety communication regarding 2 lots of bupivacaine HCL single-dose vials distributed by Hospira. The company received confirmed reports of foreign particulates floating or embedded in the glass vials of the following lots:
    > Lot 18-136-DK – 0.25% (2.5 mg/mL) bupivacaine – distributed Aug-Sept 2012
    > Lot 23-338-DK – 0.75% (7.5 mg/mL) bupivacaine – distributed Jan-May 2013
See the September 2013 FDA Safety Communication for additional information on the issues related to each individual lot and a link to the FDA’s MedWatch Adverse Event Report form.

Very First Rare Disease Day meeting in Dublin Ireland 2018

http://www.grdo.ie/GRDO_Newsletter_2008.pdf

The National Centre for Medical Genetics (NCMG) was established at Our Lady’s Hospital Crumlin in 1994. The NCMG aims to provide a comprehensive service for all patients and families in the Republic of Ireland affected by or at risk of a genetic disorder. The Centre provides a service for both children and adults. It is the only centre of excellence in Ireland which provides clinical and laboratory services for our members.

Judy Windle of GRDO said “the low profile and public awareness of rare disorders in Ireland means that Irish people are facing tremendous difficulties. Scarcity of information and expertise and a lack of specific health policies translate into delayed diagnosis and difficulties in accessing care. Often people with rare conditions cannot find a relevant support network resulting in a feeling of vulnerability and isolation for them and their families”. She added “When you look at the incentives in Europe and what is

GRDO Launches Information Leaflet

NCMG has recently informed service users and patients that they have been forced to reduce services due to chronic underfunding and the acute financial situation at Our Lady’s Children’s Hospital, Crumlin. NCMG was already under-resourced and there is a requirement for a number of additional posts and additional funding to enable it to carry out the workload it already has and which is increasing by the day.

The Genetic and Rare Disorders Organisation (GRDO) is a non governmental organisation. GRDO acts as a national alliance for voluntary groups representing

the views and concerns of people affected by or at risk of developing genetic or other rare disorders.

We are extremely alarmed to hear that there are to be further reductions in staff numbers which will inevitably lead to some vital services being curtailed. This will mean that people with genetic conditions will not have access to genetic tests or genetic counselling which, for some families, will be catastrophic.

happening in the different member states of the EU, you see almost nothing happening in Ireland. To-day we hope will show those affected that they are not alone and that there is someone who can help point them in the right direction.”

The Genetic and Inherited Disorders Organisation, trading as Genetic and Rare

Disorders Organisation, is a company limited by guarantee and is registered as a charity and run by volunteers. The organisation

A Rare Day for Rare Disorders

“GRDO acts as a primary source of information and support for Irish people affected by rare disorders and an important part of the Awareness Day is to make such people aware that the support is available to them.” she said.

took the decision to include rare in its title in order to reflect the groups and individuals we represent. A rare

GRDO was joined by the Medical Charities Research Board, by RehabCare the health and social care division of Rehab Group and by the Irish Platform for Patients, Science and Industry (IPPOSI). There was a large attendance at the meeting with representation from the universities and the medical fraternity as well as politicians and officials from the Health Service Executive.

disorder is a disorder affecting less than 1 in 2000 people. It is estimated

GRDO organised an information event in the Mansion House Dublin to celebrate the first European Awareness Day on 29th February. GRDO received a grant from the Community Foundation, which was part-funded by the Dr. Alison Byrne Fund and enabled us to organise our meeting to raise awareness of rare disorders in Ireland. 

Orphanews Europe Worldwide 15th October 2013

OrphaNews Europe : 15 October 2013
	Editorial
		ECRIN funds clinical trials to augment rare disease research
	Spotlight on...
		Coordination of Rare Diseases at Sanford (CoRDS) – Q&A with Liz Donohue
		Interview
	National & International Policy Developments
		Draft NIH Genomic Data Sharing Policy Request for Public Comments
		Other European news
			Is it too early for mitochondrial replacement therapy to see the light of day?
			Eurogentest survey to assess requirements of professionals working in a genetic center
		Other International News
			A good year for rare disease research as multiple projects are awarded by NIH
			Australian Department of Health sets up Post-Market review of their Life Saving Drugs Program
			ISPOR (International Society for Pharmacoeconomics and Outcomes Research) is implementing a rare disease Special Interest Group (SIG)
			Guidance Documents and Recommendations
				Use of preimplantation genetic diagnosis for serious adult onset conditions: a committee opinion
			Bioinformatics, Registries and Data Management
				Novel post-approval registry for Canakinumab
			Screening and Testing
				Prenatal screening: Experience of a Prenatal Diagnosis Center in Italy
				Concerted efforts in Turkey to reduce incidence of hereditary rare diseases
				Clinical management of rare renal disease in the absence of scientific evidence to support clinical practice
	Ethical, Legal & Social Issues
		What is the kind of assistance caregivers of patients with Juvenile Huntington’s Disease looking for?
	New Syndromes
		New syndrome featuring severe dermatitis, multiple allergies and metabolic wasting caused by homozygous mutations in DSG1
		Novel syndrome characterized by hypopituitarism, post-natal microcephaly, visual and renal abnormalities due to an ARNT2 mutation
		Previously unreported condition of intellectual disability, unusual facial morphology and hand anomalies
		A new form of severe spondyloepimetaphyseal dysplasia described in two patients
		Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts in seven children
	New Genes
		Acute lymphoblastic leukemia: identification of PAX5 and TP53 as susceptibility genes
		Intermediate form of autosomal-recessive Charcot-Marie-Tooth disease due to two homozygous mutations in PLEKHG5 in two consanguineous families
		Chronic pancreatitis: variants in CPA1 are strongly associated with early-onset disease
		Dyschromatosis universalis due to mutations in ABCB6 in a five-generation Chinese family and in two additional cases
		Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS
		West syndrome: SCN2A mutations identified in one case, and in seven cases with Ohtahara syndrome evolving to West syndrome
		Hereditary spastic paraplegia type 43 is due to a homozygous missense mutation in C19orf12
		Idiopathic bronchiectasis: identification of two missense variants in SLC26A9 in heterozygous patients that could trigger the pathogenic role of a single CFTR mutation
		A case of paroxysmal nocturnal hemoglobinuria caused by a heterozygous germline splice site mutation and a somatic deletion in PIGT
		Mosaic variegated aneuploidy syndrome: identification of haploinsufficiency or heterozygous mutations in BUB1 and BUB3
		Primary sclerosing cholangitis: genome-wide association analysis identified risk loci at GPR35 and TCF4
		Spondyloepimetaphyseal dysplasia with multiple dislocations-like phenotype due to homozygous missense mutations in NIN and POLE2, with mutant NIN most likely causative
		Primary ovarian failure associated with a heterozygous stop codon in elF4ENIF1 in nine women in three consecutive generations
		Isolated cytochrome C oxidase deficiency: novel heterozygous mutations in SCO1 in one patient with fatal encephalopathy but without hepatopathy or hypertrophic cardiomyopathy
	Research in Action
		Clinical Research
			Schnitzler syndrome: monthly 150 mg canakinumab injection was effective and well-tolerated in a 9 months study
			Familial amyloid polyneuropathy: ALN-TTR01 and ALN-TTR02 suppressed the production of both mutant and non-mutant forms of transthyretin
			Uveal melanoma: durable responses to ipilimumab and manageable toxicity in 39 patients
			Neurofibromatosis type 1: chemotherapy for the treatment of malignant peripheral nerve sheath tumors did not seem to reduce mortality in a retrospective review
			Cholesteryl ester storage disease: sebelipase alfa is well tolerated, rapidly decreases serum transaminases, and improves serum lipid profile on the long-term
			Biliary atresia: endoscopic therapy appears to be well tolerated and greatly reduces the risk of variceal bleeding in children, although continued endoscopic surveillance is needed
			Therapies in development for mucopolysaccharidosis type 3
			Behçet’s disease: potential for using gevokizumab for the treatment of uveitis
			Gene therapy for Wiskott-Aldrich syndrome
			Cystic fibrosis gene therapy is moving forward
			Acute myeloid leukemia: vascular-targeting with an F16 antibody fused to IL-2, associated with cytarabine, significantly reduced AML lesions in a patient with disseminated disease
			Mild and moderately severe hemophilia A: F8 genotyping facilitates the identification of patients at high-risk of developing inhibitor
			Rare mitochondrial DNA mutations probably account for more than 7.4% of patients with respiratory chain deficiency
			Limbic encephalitis with NMDA receptor antibodies is associated with functional and structural brain changes despite normal findings in routine clinical MRI
		Gene Therapy
			FKRP-related muscular dystrophies: significant improvement in pathology, serum creatine kinase levels and muscle function with AAV9-mediated FKRP gene therapy in model mice
			Limb girdle muscular dystrophy type 2A: a new AAV vector with CAPN3 expression restricted to skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model
			Mucopolysaccharidosis type IIIB: targeting both the systemic and central nervous system early in life appears to be the most efficacious approach in model mice
			Mucopolysaccharidosis type IIIA: evidence of neurological disease correction using autologous myeloid driven lentiviral-hematopoietic stem cells gene therapy in model mice
			Acute neonatal citrullinemia type I: adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice
			Autosomal-recessive infantile malignant osteopetrosis: lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function
			Development of gene therapy for blood disorders: an update
		Therapeutic Approaches
			Huntington disease: glutathione peroxidase activity is neuroprotective in yeast, mammalian cells and Drosophila models
			Young adult-onset Parkinsonism: both ursocholanic acid and ursodeoxycholic acid rescue mitochondrial function in LRRK2G2019s mutant fibroblasts
			Methylmalonic acidemia type cblB: pharmacological chaperones as a potential therapeutic option
			Heritable pulmonary arterial hypertension with BMPR2 mutation or deficiency: chloroquine as a potential therapeutic approach through the restoration of cell surface BMPR-2
			Spinal muscular atrophy: the Dcps inhibitor RG3039 improves motor function and survival in model mice
			Amyotrophic lateral sclerosis: treatment of model mice treated with anti-miR-155 significantly extended survival by 10 days and disease duration by 15 days
		Diagnostic Approaches
			Pseudotumor cerebri syndrome: revised diagnostic criteria in adults and children
			Need for revision of the World Health Organization criteria for diagnosis of polycythemia vera
			Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
			Autoimmune necrotizing myopathy: a review
	Patient Management and Therapy
		Cold agglutinin disease: a review
		Primary sclerosing cholangitis: review of pathogenesis and advances in diagnosis and management
		Brachydactyly type E: review on the isolated disease or as a feature of a syndrome
		Hereditary ataxias: overview
		Takayasu arteritis: main clinical features and recent insights into diagnosis and treatments
		Management of CADASIL syndrome
		Treatment options for graft versus host disease
		Intermediate-dose versus high-dose prophylaxis for severe hemophilia: comparing outcomes and costs since 1970s
		Neurodevelopmental disorders and genetic testing: current approaches and future advances
		Alpha-1-antitrypsin deficiency: diagnostic testing and disease awareness in Germany and Italy
		Peripheral neuropathy in mitochondrial disorders
		Three new Clinical Utility Gene Cards and four Clinical Utility Gene Cards updates published in the European Journal of Human Genetics
		The European Journal of Human Genetics has published four Clinical Utility Gene Cards updates
	Orphan Drugs
		Drisapersen - exon skipping drug for DMD - fails to reach its primary endpoint in a Phase III trial
		Political and Scientific News
			Delivery of lentiviral vectors using hematopoietic stem cells: a new era of treatment
			The treatment of neuronal ceroid lipofuscinosis - a focus on clinical trial development
	Grants
		SMA Europe announces its 6th international Call for SMA Research Projects
		The French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY NOW!
		Clinical studies of safety and effectiveness of orphan products research project grant (FDA, USA)
	Courses & Educational Initiatives
		Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation
		2nd International Workshop Rare disease and Orphan Drug Registries
		1st Asia Pacific Inborn Errors of Metabolism course
		European Cytogeneticists Association Courses
	What's on Where?
		2013 PVNH Support & Awareness Conference
		3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
		Thalassemia International Federation World Congress
		World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
		EUROPLAN National Conferences Hungary
		The 8th ICORD Meeting
		First International Primary Immunodeficiencies Congress (IPIC)
		EUROPLAN National Conferences Lithuania
		EUROPLAN National Conferences The Netherlands
		5th European Symposium on Rare Anaemias
		EUROPLAN National Conferences Italy
		EUROPLAN National Conferences Luxembourg
		EUROPLAN National Conferences Serbia
		EUROPLAN National Conferences France
		EUROPLAN National Conferences Spain
		EUROPLAN National Conferences Ireland
		EUROPLAN National Conferences Belgium
		14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
		19th Congress of the European Association of Hospital Pharmacists
		The 9th International Congress on Autoimmunity
		2014 Lymphangioleiomyomatosis International Research Conference
		7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
		World Orphan Drug Congress 2013
		Explaining the Price of Orphan Drugs