My name is Leigha Hoffner and I am the mother of Jamil Hooper who has
Bassen Kornzweig Syndrome. We live in Chicago, IL and I am starting a
foundation called Jamil's Hope for Help Foundation. I was wondering if
you know how I can find out who the leading doctors are on this disease.
I also was wondering if there is a specific way to go about getting
medical professionals to join a board of directors for a foundation. I
am interested in having a medical team as part of the board but just
unsure as to how to go about it. Any advice that you can give would be
wonderful and much appreciated.
My son is only 2 1/2 years old but already having symptoms and I have
been told that he might die by the time he is 5 years old. I have to do
something so that he doesn't die, I have to try and save him and any
other mother who is going through what I am. I live in Chicago and there
is NOT a single support group, we have been to 17 different doctors and
NONE of them have even heard about this disease. I need to make people
aware of this and I believe that my foundation will.
Thanks again for your time.
Leigha and Jamil
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Bassen Kornzweig Syndrome
- By leighahh
- Posted January 1, 2009 at 6:11 pm · 3 replies
- In Tips for caregivers
- Shared with the public
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- By leighahh
- Posted May 8, 2009 at 1:21 pm
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Hi sorry for the late response i am so busy with my son and havent had time to be online. I am glad to here that your sons are doing great. I am open to any suggestions and recommendations for my son. Please let me know. Thanks
- By MumG
- Posted February 25, 2009 at 6:40 pm
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Hi Leigha
I have just taken my boys to an appointment at Great Ormond Street Hospital in London, UK (the most highly regarded children's hospital over here). I asked our doctor if she had any contacts in the US who might be able to help your son with Bassen Kornzweig Syndrome, and she had a recommendation. Please contact me for more info.
- By MumG
- Posted February 18, 2009 at 7:22 pm
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Hi Leigha
Firstly I want to encourage you ... I have two teenage sons with Bassen Kornzweig, and both are well.
We live in the UK, and over here Bassen K is called Abetalipoproteinaemia or Homozygous Hypobetalipoproteinaemia. (Clinically both Abeta... and Homozygous Hypobeta... are the same, but I think the inheritance route is slightly different, hence the different names), but Abeta... and Bassen Kornzweig are exactly the same thing.
The key thing seems to be a very low fat diet coupled with massive Vitamin E supplements, and more normal doses of other vitamins and minerals. Our boys have Vitamine E oral suspension (dilution 100mg in 1ml) and Ketovite liquid plus Ketovite tablets, and a small amount of Omega 3,6,9. The amounts of these supplements go up as their weight goes up.
There is a very good support organisation over here for metabolic diseases called CLIMB (Children Living with Inherited Metabolic diseases). Their website is www.climb.org.uk. I am sure you would find them very helpful if you got in touch.
Hope this is helpful. Let me know how you get on!
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