Professional assistance

Professional Assistance

Having your child diagnosed with nemaline can be a devastating time. It is important to discuss future health and care issues.
The following people can help advise you. Please advise me if you find these details out of date.

Worldwide

.	.	Personal comments	Details added
.	http://www.doctorbabel.com/ Create a simple medical record online and translate it accurately into many languages. Useful for holidays. Can help foreign medical professionals understand your own history and requirements.	Featured in Muscular Dystrophy Campaign Scottish Newsletter.	2007

USA

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Nationwide	Yellow pages for kids Find health care providers, therapists, etc. for children with disabilities in your state. Drop down list of state. Very comprehensive list.	.	March 2008
Nationwide	American Speech-Language-Hearing Association (ASHA)	Contact your local speech therapy organization for guidance	August 2007
Iowa	http://www.slweinstein.com/ For spinal surgery and good bedside manner!	.	Sept. 2005
New York	Dr. Bach is a leading authority on noninvasive mechanical ventilation.	.	Sept. 2005
Maryland	GeneDx Clinical testing for actin mutations is available now. As you know, NM is caused by at least 6 different genes, and this test would screen for mutations in one of them. Results will be available in approximately 4-6 weeks. Anyone who might be interested in obtaining this test should discuss it with their doctor. The doctor is responsible for ordering the test to GeneDx, just like any routine test is ordered.	.	.
Florida	Miami Children's Hospital Pulmonology - Dr. Carlos Diaz	For future reference, the Pulmonology group from Miami Children's Hospital is really good. I specially recommend Dr. Carlos Diaz. He's very pleasant and very up-to-date in his field. Lucy Salazar	Feb. 2006
.	Shands Hospital - Gainesville Pulomonolgist - Dr. Pamela Schuler	She is absolutely the best. Amy Rhodes	Feb 2006

Canada

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Ontario	Hospital for Sick Children: http://www.sickkids.on.ca/Neurology/default.asp (see "Staff") Toronto Dr. Jiri Vasjar - Neurologist (416) 813-5668 Dr. Ian MacLusky - Respiratory Medicine (416) 813-6248 Dr. Brenda Banwell- Neurologist (416) 813-6660	I am glad you liked Dr. Banwell - she is an excellent doctor. It was she who performed the muscle biopsy on Kristin and within a couple of hours informed us of her diagnosis.	2004
Ontario	Bloorview-MacMillan Centre, Toronto Dr. Douglas Biggar - Musculoskeletal program (416) 424-3813 Kathleen MacLeod - nurse coordinator for this program (416) 425-6220 (ext. 3570)	.	.
Ontario	Nutrition Products Form The form the doctor completes is called the Nutrition Products Form. (For information, call the Ontario Drug Programs Help Desk at 1-800- 668-6641). The NP form is valid for one year. The case worker renews the ODB card and faxes it to the pharmacy.	.	2005

Europe

		Personal comments	Details added
UK	Genetic tests can be done by the Kennedy Galton Centre, should anyone's genetic counsellors want to contact them. http://www.bshg.org.uk/Directory/Kennedy_Galton.htm	.	2005
UK	Prof. Kate Bushby, Newcastle, England http://www.ncl.ac.uk/ihg/about/muscle	.	2005
UK	Dr. Caroline Sewry http://www.keele.ac.uk/depts/stm/cellular/sewry.htm	.	2005
UK	Several people with NM see specialists at Hammersmith Hospital, London	.	2005
UK	Dr. Cathy White, Consultant Neurologist, Wales	.	2005
UK	Directory of Genetics Centres and Services in theUK	.	2006
UK	Genetic testing	.	2006
UK	www.papool.co.uk A new website to help disabled people recruit a Personal Assistant.	.	2006
UK	Find a sleep apnoea clinic near you. http://www.sleep-apnoea-trust.org/clinics2/clinic-map.php	.	2006
UK	http://www.direct.gov.uk/en/ Council Tax discounts, exemptions and financial help	.	2007

Australia

.	.	Personal comments	Details added
Melbourne	http://cordblood.cryosite.com/faq.asp One of several services to take cordblood for cryogenic storage.	Several finance packages available. You have the option of either paying the fee up front or in instalments over a couple of years. If I remember correctly this was for around 18 years of storage. Most of what I have been told estimates that it may be 15-20 years before stem cell or gene therapy is useable, so perhaps there might not be any real benefit. If you do decide to do it, your obstetrician would be the one to talk to as they are usually the ones to do the collection after the birth and the company that stores the cord blood collects it from the hospital.	2005

Technical Assistance

Tetra Society
The purpose of Tetra is to recruit skilled volunteer engineers and technicians to create assistive devices for people with disabilities.

Financial Assistance

Canada
The Residential Rehabilitation Assistance Program (RRAP) for Persons with Disabilities offers financial assistance to homeowners and landlords to undertake accessibility work to modify dwellings occupied or intended for occupancy by low-income persons with disabilities. cmhc.ca