Thursday, April 26, 2012

The Good News and Bad News with Bardet-Biedl Syndrome

The real reason for our visit to London was to attend the Bardet-Biedl Syndrome Conference which is held once a year in Northampton, England.  The President of the organization is  Professor Phil Beales who accidently discovered the syndrome in a patient that no one knew how to help. He is a researcher extraordinaire and has since found an amazing group of parents who have been helping collect people from all over the British Isles with this rare syndrome. In 2010 he was the force behind opening clinics in four location in the UK where families effected with BBS, named after the scientist who first discovered the syndrome.

Those who have BBS can go once a year to see physicians and researchers who know exactly what they can do to help. Since it is so rare it’s hard to find a regular doctor anywhere who knows anything about BBS so this is an enormous advantage for those who live in the British Isles.

Professor Beales has really dedicated his life to discovering what is needed to help people affected with BBS and other rare diseases and the genes that cause them. After many years, they found 10 BBS genes and within the last few years they have boosted that number to 17.  Here he is with his darling wife Helen. They have two girls 15 and 19 and live in Greenwich although he travels the world with his work.

 

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He had treated almost everyone at the conference at some point in his career and those effected with BBS and their parents and families come from all over the British Isles to hear his updates and feel his concern for their issues. They all think of him as their second father or brother and the festive atmosphere with a hotel full of these people who meet once a year felt like a family reunion.

Here is the darling lady, who has a 30 year old son with BBS who organizes the event which included about 300 people this year (including social workers and scientists). He has found about 200 people who have been effected with BBS in Great Britain, although we’re sure that there are many undiagnosed cases waiting to be found. What a sweetheart she is!

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Phil Beales and several other world-renowned specialists in BBS were there to speak to us, review new findings and give us the bad news along with the good. The most common side effects of the syndrome is loss of vision at a wide variety of ages. The photoreceptors in the eye don’t receive enough of the crucial proteins it needs to survive so the light receptors begin to die. The bad news is that retinitis pigmentosa, which is the condition that many people have that causes similar blindness is not exactly the same as those with BBS. Even though they are doing a myriad of test groups on various methods to save vision, vision loss manifests itself a little differently in BBS kids so it requires a little different care to make it work. Figuring all that out is that is the rub!

It was hard to see very large people 18-40 there walking around with white canes and guide dogs…..until you hear them speak.  There was a man there with a guide dog and a master’s degree in music. He plays in a band nightly and says that he wouldn’t change his sight status for anything. He’s learned more from being blind that he ever could have with his sight.

The last speaker was a terrific young woman from Australia who has BBS, is a registered nurse and who lost 11 stones (over150 pounds) through sheer will power the past couple of years. She still has her vision at 34 and that is GREAT news!

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The other good news is that those with BBS can lose weigh with lots of knowledge of the way their own bodies work and a huge amount of will power. The bad news is that the pituitary gland which controls appetite usually sends out a substance called leptin. Here’s the definition from Wikepeidia: Leptin (Greek λεπτός (leptos) meaning thin) is a 16 kDa protein hormone that plays a key role in regulating energy intake and energy expenditure, including appetite and metabolism. It’s a hormone that BBS kids have but it’s so weak that it can’t tell the body that it’s full. Therefore, these kids think they are hungry, even when they really don’t need more food. They just mostly always feel hungry.Thus the weight gain.So unfair! 

The good news is that they are working on a way to create a way to send stronger doses of leptin messages to the gland; but the bad news is that it will be a while before they expect they can figure that out!

We learned more than we can possibly put in one blog post and probably more that you want to know but here are a few pictures of the wonderful parents and kids who are dealing with this syndrome which manifests itself differently in every single case. Many have heart and kidney problems and other don’t. Some have learning difficulties but many have extraordinary gifts that others don’t have. They are finding that many BBS kids have remarkable memories. Some lose their vision early and others’ eyesight lasts into their 40’s.

Since our granddaughter Lucy is already showing signs of night-blindness at age 5, we are thinking this is going to be an issue with her. Weight is also a problem which she will have to fight all of her life. As the geneticists showed us the delicate balance of proteins and cilia which is still greatly unknown, we felt both encouraged at their discoveries but more and more anxious about what they can do with the results they find in order to make things better for families who deal with BBS. 

The room at the Hilton Hotel in Northampton was filled with people who are trying to work out how to help their family and patients with BBS.

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This dad below has three boys and then a darling little two year old daughter just diagnosed with BBS. He is from Austria but living in Zurich  He was jet lagged along with us and just happened to sit right by us in the audience of 300 when he arrived. Serendipity!  He had just returned from Dallas, TX the night before, flown home to Zurich and had gotten up on Saturday morning to fly to England to join us.  What a great guy he was!  One of the real perks of this “job” of keeping up with BBS is meeting other parents who have the same issues to deal with!

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These parents have two BBS daughters with entirely different symptoms even though the same gene is affected. They are incredible people who kind of “run the show” at the conferences. They do everything from child care (many of the kids come and are taken care of by saintly care-givers to fun places while the parents learn about their syndrome), to this dad being the treasurer of the organization!

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There were so many families dealing with similar issues, only different! This cute boy is blind and has the cutest smile ever!

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This young man has managed his weight so well. We keep wondering what makes the difference in size. Body type, genetics, the amount of leptin that ‘s getting through and food portions are all factors. One cute mom from Ireland who has five children said she has, “one wee boy of eight with BBS and actually slender and a wee girl of six with BBS who is not so “wee”.  She says they eat exactly the same things. Such a mystery!

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Here is a dad with his 10 year old whom he obviously adores!

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This is a darling little three year old with BBS. Her mother died 20 months ago of epilepsy (which she also deals with) and her dad is nowhere to be found. She is being cared for by a darling grandmother in a wheelchair and a caring uncle.

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This adoring mother has done so much to help her cute son deal with the syndrome.

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And here are a couple of teenagers who have been able to control their weight very well. Darling girls with their support team!

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This couple rely on each other for help and support!

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So the good news is that we have so many new friends who are all dealing with similar issues although they have a wide degree of variation. The other great news is that we have people like Phil Beales and many doctors and researchers who are gathering information to help. The bad news is that research takes such long time to test before it can become a real help.

The best news of all is that we were told that possible solutions to the numberless problems that these BBS kids face are being worked on and possibilities are jumping in leaps and bounds!

After the meetings we spoke to Phil and Helen briefly about how excited we were about the conference and they actually offered us a ride home (to Saydi’s house). Even though I know it was a little out of their way, we jumped at the chance to spend a precious extra 90 minutes with them getting to know them better and asking some unanswered questions from those swimming in our heads from the conference. What luck! Or maybe purely love from a kind Heavenly Father who knows we need help!

One thing we’re sure of:  Lucy is on the good end of the spectrum of kids affected with BBS. She is absolutely adorable with remarkable language skills and incredible art abilities. It seems that even though some genes are effected adversely, others give them extraordinary abilities. (As a group many seem to have wonderful memories). Lucy reads a little book every night before bed and is so excited to go to a mainstream kindergarten next year. Her parents are doing a stellar job of keeping her weight under control although they are aware of every bite that goes into her mouth. She does hold things that she’s working on very close to her eyes and her glasses seem to help her see better. Although she doesn’t wear them much at home she always has them on at school.

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Remarkable teachers (she’s been in pre-school for three years with help for her special needs) and care givers (the state has provided speech therapists and physical therapists as soon as she was diagnosed) have brought tears to our eyes as they have helped her to improve her skills tirelessly!  We adore this little girl and are so grateful to all those who are helping her with special needs along the way!

Probably her biggest asset and the very best news of all for her is her amazing family! Supportive parents and siblings have given her a jumpstart on everything from her remarkable abilities to win the memory game to her mastery of  language to jumping on the trampoline, swimming and dancing! Extended family are pouring out love as well. What a lucky little girl! 

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5 comments:

charity said...

great post, mom, i was so glad to be able to get an update on the conference! i just can't stand how much i love that little girl hugging my leg in that last picture! you are such a great supporter of shawni and lucy. i love you.

AmyA. said...

Thanks for the information! It sounds like it was a great conference. It's so nice to see people who are managing the symptoms and thriving. I'm really looking forward to the conference at Duke in June!

Jonah and Aja said...

This is a great post. You can never give me too much information. I loved to ingest it all! Love that Lucy too.
-aja

Sarah said...

Richard and Linda--

Thanks so much for your kind comments on my blog. LOVED the pictures of London--wow, I have got to get myself there someday. So beautiful, and such incredible architecture and history.

Sorry to hear all that your sweet little granddaughter (and her parents) have to deal with, and manage each day. I imagine it's heartbreaking for the parents and grandparents to watch, and to not have all the answers and cures you're longing for.

She couldn't have been put in a better family, I'm sure. What a tremendous support system you all are for her.

-Sarah

Diane Adamo said...

Great pictures! Our son Sam has BBS 1 and I have just started sharing our story on my blog. We feel very fortunate to be a part of such a great community with tons of resources. Maybe we will see you at the next conference!