…combined substrate reduction therapy and enzyme replacement therapy may provide a more efficient approach to treating Sanfilippo disease. To determine the impact ofExt heterozygosity on the sensitivity ofSgsh-/- mice to enzyme replacement therapy in vivo, we are currently quantifying heparan sulfate levels in different organs ofSgsh-/-,Sgsh-/-;Ext1+/ and Sgsh-/-;Ext1+/-;Ext2+/- mice treated with 0, 0.1, 0.3 and 2 mg/kg recombinant sulfamidase using mass spectrometry. These studies should be completed in the 3 6 months. In summary, we are approaching completion of both aims of the grant. Substrate reduction therapy has been demonstrated…
…the upper chambers (ASD) or great vessels (PDA) have been found in some children with MPS Syndromes. Sometimes extra electrical connections within the heart can cause an unusually fast heart beat (tachycardias). Usually these problems are treatable by conventional means. Because of valve abnormalities, virtually all individuals with MPS Syndromes require prophylaxis with antibiotics (SBE prophylaxis) at the time of dental or other contaminated procedures. Due to the progressive nature of the MPS Syndromes, regular follow-up by cardiac ultrasound, electrocardiogram, and Holter monitoring by a cardiologist familiar with the complications…
…all rare disease patients and organizations. RDLA believes that every voice matters and that patients are the key to changing public policy.” Lysosomal Disease Network: “The combined and integrated efforts of the Lysosomal Disease Network focus limited resources toward creating a network of centers with expertise in these diseases in order to solve major challenges in diagnosis, disease management, and therapy.” Global Genes: An advocacy organization dedicated to connecting the rare disease community. It empowers patients, builds communities while seeking to eliminate the challenges experienced by people with rare diseases.…
…or feelings without fear of being judged negatively or causing parents to become overly upset. Remember that children’s thoughts and feelings may change over time. As such, keeping the lines of communication open is an ongoing task. Prepare your children for medical procedures: Children need to know what to expect in their lives. Although parents may think they are protecting them by withholding information about procedures that may be painful or uncomfortable, this approach may increase anxiety. It is typically a good idea for parents to take the time to…
Stephanie Bozarth, MPS IV mom Jennifer Klein, ML III patient Opting for major surgery like a hip replacement is always trying, but the outcomes have been so successful that it is a good step to take for those with MPS and ML. But the surgery itself is only half the battle; the aftercare is also a major undertaking and requires preparation for the six weeks before the cast comes off and the months after. Here are some things to know about hip surgery from the caregiver and patient perspectives. Patients…
…about her, and she was recognized as one of the country’s top young Hispanic up-and-comers by People Magazine’s Spanish edition, People en Español. Mercedes and her children reside in the Dallas, Texas. To learn more, visit her website www.MercedesRamirezJohnson.com. x Carl Kapes (MPS IIIA Parent) Wilmington, DE carl.kapes@mpssociety.org Carl Kapes works as an electrical engineering manager for Burns Engineering in Philadelphia, PA. He attended Villanova University where he majored in electrical engineering and played on the Wildcats baseball team. He has raised more than $1 million for Sanfilippo syndrome…
…therapies being explored, including a variety of novel, experimental therapies under investigation; it may be important to determine what alternative therapies (stem cell transplant related or others) are available to you. Summary and Conclusions The effective use of HSCT for selected MPS disorders has been established over the past thirty or more years. HSCT should be performed at centers with experience in offering comprehensive, multi-specialty care for MPS individuals whose underlying diseases can be appropriately treated by transplant. If you would like to download this fact sheet, click below. enable…
…and intelligence. Mucolipidosis (ML): Term coined to denote diseases that combined clinical features common to both the mucopolysaccharidoses and the sphingolipidoses (diseases characterized by abnormal lipid or fat metabolism, affecting nerve tissue). See ML II and ML III Mucopolysaccharide: A complex carbohydrate molecule that is a common constituent of secretions and the connective tissue between cells. Although the molecules were originally called “mucopolysaccharides” because of their ability to form viscous, mucin-like solutions, the terminology was revised to “proteoglycans” and subsequently to “glycosaminoglycans” in the last decades. Mutation: A change in…
…not have been able to work long enough to qualify for SSDI benefits. The SSA evaluates applicants based on portions of their income and the value of resources they own. In the case of a child, the SSA will evaluate parts of a parent’s finances under the assumption that the child also shares in these funds, called the parental deeming process. Parents’ income and resources will not be used in the determination process once the individual with MPS turns 18. http://www.disability-benefits-help.org/ssi/qualify-for-ssi Medical Eligibility The SSA has a guidebook of conditions…
Link to purchase disposable swim diapers from My Pool Pal www.mypoolpal.com Link to Duraline Medical Products for specialty undergarments www.arktherapeutic.com Link to Adaptive Mall.com, a resource for medical equipment southpawenterprises*]}*.com Vehicle Conversion…
