Re: DIAG: 7 messages/5 Pt req.

[Robert Resta <bc928@scn.org>]

>
>**************************************************************
>           HUM-MOLGEN  DIAGnostics/Clinical Research
>**************************************************************
>
>The following messages have been submitted to the DIAG section of
>HUM-MOLGEN. Replies should be made directly to the originator of
>each message, unless the message is from a non-professional in
>which case replies should be made to HUM-MOLGEN.
>
>This DIAG message contains 7 submessages:
>
>1) Pachyonychia congenita (pt. request)
>
>2) Canavan disease
>
>3) CADASIL (pt. request)
>
>4) CADASIL (pt. request)
>
>5) Hodgkin's disease (pt. request)
>
>6) Duchenne muscular dystrophy (pt. request)
>
>7) In utero bone marrow transplantation
>
>
> Carlo Gambacorti, MD, Editor,         Min Ae Lee, MD, Assistant Editor
>
>                        Human Molecular Genetics Network
>                        Diagnostics/Clinical Research Section
>
>**************************************************************
>1. Pachyonychia congenita
>
>PT-REQUEST / PLEASE REPLY DIRECTLY TO HUM-MOLGEN !
>Apparent patient location: New York
>
>Help! We are looking for information/resources/research -
>ANYTHING for a 2 year old female diagnosed since birth with the
>above. She is having problems and we cannot locate
>doctors/hospitals who will/can treat her.
>Anything you can provide is most appreciated.
>
>Thank you for your time.
>
>**************************************************************
>2. Canavan disease
>
>I run a molecular genetics diagnostic service lab and offer
>a service for Canavan disease (aspartoacylase deficiency).
>This is a relatively common recessive disorder in Ashkenazi
>Jews where 2 mutations account for almost all CD chromosomes
>but very rare in other poulations. Does anyone have samples (DNA)
>from CD patients particularly  non-Ashkenazi patients.  Would you be
>able or willing to send me some DNA which would be very useful as
>control DNA to work up and validate mutation detection techniques.
>Best wishes
>
>Stewart Payne
>Kennedy-Galton Centre for Medical & Community Genetics
>Northwick Park Hospital, Harrow, UK
>s.j.payne@ic.ac.uk
>
>**************************************************************
>3. CADASIL
>
>PT-REQUEST / PLEASE REPLY DIRECTLY TO HUM-MOLGEN !
>Apparent patient location: Europe
>
>I am sorry to hear about the diagnose of CADASIL.  I do understand,
>for the last 7months my husband has been told he might has
>CADASIL.  He suffered migraines 2 years ago which put him in
>hospital. CT were fine. then last november 96 ct was abnormal MRI
>came back abnormal. Just yesterday, it was confirmed he has
>CADASIL.  His father who lives in England died 12 year ago today
>and they did not know what he died of it was a mystery until yesterday
>when the doctors here said it was CADASIL.
>from the family history, MRI they found out.
>How was you diagnosed.  What was your prognosis for this.  have
>you heard about any treatments.  any feedback would be grateful.
>
>thanks
>
>**************************************************************
>4. CADASIL
>
>PT-REQUEST / PLEASE REPLY DIRECTLY TO HUM-MOLGEN !
>Apparent patient location: Ontario
>
>I wish to learn all that I can about CADASIL
>It is new to me and my family.
>I would most certainly like to be posted to receive further information.
>
>Thank you
>
>**************************************************************
>5. Hodgkin's disease
>
>PT-REQUEST / PLEASE REPLY DIRECTLY TO HUM-MOLGEN !
>Apparent patient location: USA
>
>I'm wondering if you could direct me toward any promising studies
>being conducted on Hodgkin's Disease.  I am 35 years old, with
>recurrent Hodgkin's. I received 6 cycles of ABVD last year with
>complete response, only to have the disease return 5 months later
>(3/97).  I have no faith in more chemotherapy and have refused
>additional treatments.  I have revised my eating habits, reduced stress
>and feel great, but know the disease progresses.  Alternative clinics
>have been investigated with mixed feelings.
>If you have knowledge of any non-chemotherapy (or radiation)
>approaches to treatment, I'd be very interested.  A friend's, wife's,
>brother-in-law had a daughter with MS that was helped by contacting
>you.  I know thats not much of a connection, but its better than
>nothing. Thanks for any help.
>
>**************************************************************
>6. Duchenne muscular dystrophy
>
>PT-REQUEST / PLEASE REPLY DIRECTLY TO HUM-MOLGEN !
>Apparent patient location: USA
>
>MY SON WAS BORN WITH DUCHENNE'S MUSCULAR
>DYSTROPHY. I AM NOT A GENETIC CARRIER. I AM ALLERGIC
>TO MANY HEAVY METAL AND HAVE HAD MERCURY
>FILLINGS IN MY MOUTH FOR OVER 18YEARS. FOR THE PAST
>TWO YEARS I HAVE BEEN IN UNBEARABLE PAIN AND
>CHRONICALLY SICK. I'VE HAD ALL KINDS OF BLOOD-
>WORK EXCEPT THE ONE THAT I KEEP ON INSISTING ON -
>MERCURY AND HEAVY METAL TESTS. I READ IN A COUPLE OF
>BOOKS ON MERCURY TOXICITY THAT MERCURY CAN CHANGE
>A PERSON'S DNA AND THAT IN SOME COUNTRIES MERCURY
>IS BANNED OR PATIENTS WHO ARE PREGNANT ARE WARNED
>ABOUT BIRTH DEFECTSTHAT ARE CAUSED BY THE PASSING
>THROUGH THE PLACENTA TO THE NEW BORN.
>I AM WONDERING IF MY SON COULD HAVE DMD BECAUSE OF
>MERCURY. ALSO IF A MOTHER DOESN'T CARRY THE GENE
>CAN THERE BE A DIFFERENT IN THE DEGREE
>OF THE DMD ILLNESS-EX.IN MY SON'S CASE HE IS STILL
>PRETTY STRONG AND GETS AROUND PRETTY WELL. HE
>WEARS LEG BRACES AT NIGHT. BUT MOST OF
>THE KIDS AT MDA CAMP WHO ARE ABOUT THE SAME AGE ARE
>IN WHEELCHAIRS. IS EACH DMD CASE INDIVIDUAL WITH
>DELETIONS IN DIFFERENT PARTS OF THE GENE -DIFFERENT
>DELETIONS OF CERTAIN PROTEINS ETC. OR IS DUCHENNE'S
>THE SAME NO MATTER WHAT THE CASE.
>ALSO WHO CAN I WRITE TO ABOUT GETTING MY SON IN TO A
>RESEARCH STUDY?
>I WANT TO KNOW EXACTLY WHAT CAN BE DONE FOR MY SON
>AND I FEEL LIKE IF THEY WOULD AT LEAST PUT HIM IN A
>STUDY WITH OTHER KIDS WITH DMD--
>MAYBE I COULD DEAL WITH THE SITUATION A LOT BETTER. I
>CAN'T JUST SIT AROUND AND WATCH MY SON LOSE THE USE
>OF HIS BODY IF THERE WAS A CHANCE THAT THERE IS
>SOMEONE OUT THERE TRYING SOMETHING.
>IF ANYBODY CAN TELL ME HOW TO GET IN TOUCH WITH THE
>NIMH\NIH I WOULD VOLUNTEER MY TIME WITH ONE OF THE
>RESEARCHERS TO TRY TO FIND THE LITTLE NEEDLE IN THE
>HAYSTACK. I KNOW DMD IS COMPLICATED BUT I AM
>GOOD AT FINDING THINGS THAT OTHERS HAVEN'T BEEN
>ABLE TO DO.
>
>**************************************************************
>7. In utero bone marrow transplantation
>
>Physicians at the Cedars-Sinai Medical Center and the Childrens
>Hospital Los Angeles are investigating the efficacy of in utero bone
>marrow transplantation to treat genetic diseases involving
>hematopoietic stem cells.
>CD34+ cells isolated from the father's bone marrow will be
>transplanted initially during the first trimester, i.e. before 14 weeks of
>gestation.
>Potential candidates are fetuses whose diagnosis is confirmed before
>11 weeks of gestation and who do not have an identifiable histocompatible
>family member.  Candidate diseases include all forms of severe combine
>immune deficiency, Wiskott-Aldrich syndrome, chronic granulomatous disease,
>a thalassemia, Hurler syndrome, metachromatic leukodystrophy and
>Krabbe disease.  This project has been approved by both the FDA and the
>Institutional Review Board (IRB) at each of the participating sites,
>including Cedars-Sinai Medical Center and Childrens Hospital Los
>Angeles.
>Interested individuals should contact Dr. Rena Falk or Dr. William
>Wilcox, Division of Genetics at Cedars-Sinai Medical Center, 444 S. San
>Vicente, Suite 1001, Los Angeles,  California 90048
>Telephone:   (310) 855-6451
>Fax:            (310) 659-0491
>E-mail: rfalk@mailgate.csmc.edu
>                                or
>            wwilcox@mailgate.csmc.edu
>                                or
>            Dr. Robert Parkman
>            (213) 669-2546
>            rparkman%smtpgate@chlais.usc.edu
>
>(No IRB number provided to HUM-MOLGEN)
>
>**************************************************************
>
> HUM-MOLGEN - Internet Communication Forum in Human Genetics
>
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>"copyright HUM-MOLGEN"
>
>**************************************************************
>
>Carlo Gambacorti-Passerini MD
>Senior Investigator
>Istituto Nazionale Tumori - OSD
>Via Venezian 1
>20133 Milano - Italy
>
>Tel +39.2.239-0818
>Fax +39.2.239-0764
>E-mail GAMBACORTI@ISTITUTOTUMORI.MI.IT
>
>