Hello AccessIndia mates? In connection with the discussion on eye treatment, I'm forwarding you the email correspondence with a Dr Duncan Jacques in the USA. Please do read with particular attention the email from Dr Duncan, dated Tuesday 29 January, 2019. I'm copying the contents of that email message here.
On Tue, 29/1/19, Duncan, Jacque <[email protected]> wrote: Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss To: "Saaqib Mahmuud" <[email protected]> Date: Tuesday, 29 January, 2019, 8:41 AM Dear Mr. Mahmood, Thanks very much for resending. It sounds like you have very early onset vision loss. Have you previously had an electroretinogram to confirm that your vision loss is due to a problem with the photoreceptors rather than the optic nerve? If so, have you had genetic testing to look for the cause of the photoreceptor degeneration? If you can get genetic testing and you learn that your vision loss is due to 2 mutations in a gene called RPE65, gene replacement for that condition has been approved by the US Food and Drug Administration in the last year. You can learn about the latest research developments in the field of inherited retinal degeneration by visiting the website for the Foundation Fighting Blindness, https://protect2.fireeye.com/url?k=1780b5e6-4bc0d8b0-178092fb-0cc47adb57f0-456144c59515cbae&u=http://www.fightblindness.org/. Please let me know how else I may be of help to you. Best regards, Jacque Duncan, MD ----- Forwarded message ----- From: Duncan, Jacque <[email protected]>To: Saaqib Mahmuud <[email protected]>Sent: Friday, 17 May, 2019, 5:20:00 PM GMT+5Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss Dear Mr Mahmuud,Without genetic testing it is not possible to know for sure, but given the connections between your mother’s and your father’s families there is a reasonable chance your disease was inherited in an autosomal recessive manner. Best regards, Jacque Duncan, MD Sent from my iPhone On May 17, 2019, at 3:21 AM, Saaqib Mahmuud <[email protected]> wrote: Thank you, Dr Duncan, for your reply. As I've explained earlier, it is my paternal grandparents who were first cousins; my parents were related but were not first cousins: in fact my paternal grandmother and my maternal grandmother were cousins. Could either of these two facts on my ancestry possibly have a bearing on the vision loss that I'm suffering from? Yes, I am searching for options here in Pakistan of genetic testing, an examination not very common over here at least as yet. I'll update you on any progress in this connection. Regards. Yours Faithfully, Saaqib Mahmood On Thursday, 16 May, 2019, 11:57:22 PM GMT+5, Duncan, Jacque <[email protected]> wrote: Dear Mr. Saaqib, If your parents were related it is more likely that your form of retinitis pigmentosa was inherited in an autosomal recessive manner. If genetic testing were done and could identify the changed gene responsible for your vision loss, it may be amenable to gene replacement therapy depending on the type of genetic change responsible. Best regards, Jacque Duncan, MD From: Saaqib Mahmuud <[email protected]> Sent: Thursday, May 2, 2019 10:48 AM To: Duncan, Jacque <[email protected]> Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss Thank you so much, Dr Duncan, for such a prompt reply. Yes, my maternal grandmother and my paternal grandmother were first cousins. And, my paternal grandparents were also first cousins: my paternal grandfather's father was an elder (full) brother of my paternal grandmother's father. What spin, if any, does either one of these two facts about my ancestry have on my vision loss? Is there anything I could do to undo the damaged and defective genetic input I have received from my parents and grandparents? Regards. Faithfully, Saaqib Mahmood On Thursday, 2 May, 2019, 7:40:08 PM GMT+5, Duncan, Jacque <[email protected]> wrote: Dear Mr. Mahmuud, Thank you for your email. In fact, the most common scenario for patients with autosomal recessive retinitis pigmentosa is that there are no other people in the family with similar symptoms. This is especially likely if there is any connection between your mother's family and your father's family. Autosomal recessive retinitis pigmentosa occurs when patients inherit 2 copies of a changed gene that does not cause vision loss when only one copy of a changed gene is present. Since a patient with autosomal recessive retinitis pigmentosa has 2 copies of a changed gene, he inherited one from his mother and one from his father. Each parent only had one changed copy so the parents and all the other relatives likely had normal vision. Each child the parents have together has a 25% chance of inheriting both changed copies of that gene and having a vision problem, so if that is the case in you, each of your brothers and sisters also has a 25% chance of having a vision problem. I hope this is helpful to you. Best regards, Jacque Duncan, MD From: Saaqib Mahmuud <[email protected]> Sent: Thursday, May 2, 2019 2:19:57 AM To: Duncan, Jacque Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss Dear Dr Duncan, how are you? Sorry for the delay in my reply to the two questions in your email but I've yet to undergo either of the ERG and the genetic testing. However there is one important thing about me which I still haven't shared with you. There is nobody amongst my parents, uncles and aunts, first cousins, or graandparents who is or was visually challenged excepting the partial and minor age-related eyesight defects and (as in the case of my youngest brother) those minor problems caused by watching TV from too close a range as a little child. So do you still think I have an inherited retinal degeneration? Regards. Yours faithfully, Saaqib Mahmood -------------------------------------------- On Tue, 29/1/19, Duncan, Jacque <[email protected]> wrote: Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss To: "Saaqib Mahmuud" <[email protected]> Date: Tuesday, 29 January, 2019, 8:41 AM Dear Mr. Mahmood, Thanks very much for resending. It sounds like you have very early onset vision loss. Have you previously had an electroretinogram to confirm that your vision loss is due to a problem with the photoreceptors rather than the optic nerve? If so, have you had genetic testing to look for the cause of the photoreceptor degeneration? If you can get genetic testing and you learn that your vision loss is due to 2 mutations in a gene called RPE65, gene replacement for that condition has been approved by the US Food and Drug Administration in the last year. You can learn about the latest research developments in the field of inherited retinal degeneration by visiting the website for the Foundation Fighting Blindness, https://protect2.fireeye.com/url?k=1780b5e6-4bc0d8b0-178092fb-0cc47adb57f0-456144c59515cbae&u=http://www.fightblindness.org/. Please let me know how else I may be of help to you. Best regards, Jacque Duncan, MD From: Saaqib Mahmuud <[email protected]> Sent: Monday, January 28, 2019 1:53 PM To: Duncan, Jacque Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss Dear Dr Duncan, Thank you for your reply. I'm really sorry for the inconvenience, but you could have opened the file using a freely available software program called WinRAR. Anyhow I'm attaching the reports as PDF files, which I've converted online from the original JPEG image files that were included in the .rar file I've sent you already. There are four files, and I've named these PDF files so that the hospital's name where I had the checkup becomes known. Hope you'll now have no trouble accessing these files. Or, I can also send you the original files, which are the JPEG image files. Regards. Yours Faithfully, Saaqib Mahmood On Monday, 28 January, 2019, 2:33:48 AM GMT+5, Duncan, Jacque <[email protected]> wrote: Dear Mr. Mahmuud, Thanks very much for your email. Unfortunately I cannot open the .rar files you sent. If you can send them as a pdf I will review them. Best regards, Jacque Duncan, MD From: Saaqib Mahmuud <[email protected]> Sent: Friday, January 25, 2019 12:56:12 AM To: Duncan, Jacque Subject: Fw: Gene Therapy For Restoring Vision / Stopping Vision Loss Sorry Dr Duncan but I forgot to attach my eye reports in my last email message. So I'm sending these along with this email. ----- Forwarded message ----- From: Saaqib Mahmuud <[email protected]> To: [email protected] <[email protected]> Cc: Pervez Hoodbhoy <[email protected]>; Azhar Salahuddin <[email protected]> Sent: Friday, 25 January, 2019, 1:49:29 PM GMT+5 Subject: Fw: Gene Therapy For Restoring Vision / Stopping Vision Loss Dear Dr Jacque Duncan: How are you? My name is Saaqib Mahmood; I'm a visually impaired person from Pakistan. I'm contacting you on Dr Azhar's behest, who has also given me your email address. Could you, Dr Duncan, please have a look at my eye reports and advise me on what possibilities of a cure for my eyesight problem or improvement in my vision there are as of present or in the near future? I'm attaching my the assessment of my eyesight problem by four ophthalmologists at different places here in Pakistan. Looking forward to hearing from you soon. Regards. Yours Faithfully, Saaqib Mahmood, Abbottabad, PAKISTAN Phone (for Mobile & WhatsApp communications): +92 334 541 7958 Email: [email protected] ----- Forwarded message ----- From: Azhar Salahuddin <[email protected]> To: Saaqib Mahmuud <[email protected]> Cc: Pervez Hoodbhoy <[email protected]> Sent: Friday, 25 January, 2019, 12:44:08 PM GMT+5 Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss Dear Saaqib, I’m glad you were able to reach out to me. There is a doctor at UCSF (Dr Duncan) who is the worlds leading authority in on gene therapy for retinitis pigmentosa. She has enrolled several of my patients in a study and may be able to help you. Her contact information is [email protected] She can be difficult to get a hold of. First try emailing her, and if you don’t get a response let me know and I will call her for you. Sincerely, Azhar Sent from my iPhone On Jan 25, 2019, at 12:20 PM, Saaqib Mahmuud <[email protected]> wrote: Dear Sir (i.e. Dr. Azhar Salahuddin): How are you? Hope you are fine? My name is Saaqib Mahmood; I'm a visually impaired person from Abbottabad, Pakistan. Prof. Pervez Hoodbhoy has given me your contact information so I could contact you with my eye reports and seek your advice on what possibilities there might be for my eyesight problem (i.e. RP + optic nerve atrophy) to be cured perhaps using such techniques as gene therapy or stem cell treatment. So I'm forwarding you reports of my eye checkups by four different ophthalmologists here in Pakistan, as well as my correspondence with Prof Hoodbhoy, who I'm also copying on this email. Could you please take time going through my eye reports and see if there is anything positive to hope for as far as I'm concerned? Regards. Yours Faithfully, Saaqib Mahmood Phone (Mobile & WhatsApp): 0092 334 541 7958 ----- Forwarded message ----- From: Pervez Hoodbhoy <[email protected]> To: Saaqib Mahmuud <[email protected]> Sent: Thursday, 24 January, 2019, 9:24:09 AM GMT+5 Subject: Re: Gene Therapy For Restoring Vision / Stopping Vision Loss My nephew says you can contact him directly. He's very good, US trained. In writing to him I'd suggest that you give sufficient details of your eye condition with history so that he can give you an informed opinion. Pervez Dr. Azhar Salahuddin Insight Vision Center Ophthalmologist/Cornea Specialist cell: (559) 480-0027 [email protected] ᐧ On Wed, Jan 23, 2019 at 8:25 AM Pervez Hoodbhoy <[email protected]> wrote: Reply received from my nephew: Corneal stem cell transplants are pretty routine but the kind that the article describes is still experimental. It's a pretty exciting idea and a few centers are doing studies on it but as of now it's not FDA approved and not available to the public. On Tue, Jan 22, 2019 at 1:49 PM Saaqib Mahmuud <[email protected]> wrote: Dear Sir, I'm sharing an article in the Guardian newspaper, UK, about gene therapy and how a University of Oxford professor has been able to bring about some improvement in people's vision through this technique. Here is the Link. https://www.theguardian.com/science/2019/jan/19/they-said-i-would-go-blind-gene-therapy-has-changed-that Can you please also discuss this with your nephew in the USA? Hope I'm not barraging you with emails. Regards. Yours Faithfully, Saaqib Mahmood, a visually impaired person from Abbottabad <Eye Checkup Reports of Saaqib Mahmood.rar> Search for old postings at: http://www.mail-archive.com/[email protected]/ To unsubscribe send a message to [email protected] with the subject unsubscribe. 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