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Bardet Biedl Syndrome Foundation

Connecting families and sharing information on research, treatment, and therapies for Bardet Biedl Syndrome.

Webinar with Rhythm Pharmaceuticals, Thursday, November 29th

The BBS Foundation is hosting a webinar this Thursday night at 8pm Eastern with Rhythm Pharmaceuticals to discuss the Phase II setmelanotide trial for weight loss in BBS patients and plans for the Phase III trial. This is the same presentation that was given at the 2018 Conference with some updated information.

To participate, register at this link:

We are enforcing registration because this is a sensitive subject and we want to make sure we know who is participating and people can ask candid questions.

If you have any problems registering leave a comment here. If you would be interested in participating but cannot at the scheduled time, also leave a comment and we'll see if there is enough interest to schedule additional webinars.

Good News and Bad News

It's a weekend of good news, and probably bad news.

On the good news front, Rhythm has received approval to begin enrolling patients for the Phase III trial of setmelanotide. You can read more about the trial inclusion and exclusion criteria and get details on how to register interest at the NIH’s Clinical Trials site.

On the probably bad news side: a Chinese doctor/research institute has just announced that they have conducted CRISPR in human embryos and the twin babies were carried successfully to term. It remains to be seen whether this is in fact true, but even it not that is likely to start a backlash and wave of regulations and prohibitions that could set back CRISPR research in the US and Europe for many years, while driving research undrground and into countries with much fewer safety controls and regulations. You can read more about the purported CRISPR babies here.

BBS Research Overview Videoconference, February 11th

The next BBS Research overview video conference will be on Sunday, February 11th, at 4pm Eastern. Here are the details:

Topic: BBS Research Overview
Time: Feb 11, 2018 4:00 PM Eastern Time (US and Canada)

Join from PC, Mac, Linux, iOS or Android:

Joining via phone or computer is preferred because it will allow you to see slides and pictures related to the discussion.

US: +1 669 900 6833 or +1 646 558 8656
Meeting ID: 313 249 989

International numbers available:



By Marilyn Seif Workinger, PhD

The literature describing Bardet-Biedl Syndrome (BBS) indicates that speech disorders are considered secondary diagnostic features of BBS. Little is written about the communication characteristics or abilities of individuals with BBS. Earliest descriptions of children with BBS noted that speech and language were often very delayed and limited. With the help of individuals enrolled in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) project, we are able to better describe the communication abilities of people with BBS. We have gathered information about multiple aspects of communication including development of speech and language milestones, articulation abilities, voice characteristics and use of social communication.

We have learned that there is a wide range of communication ability, from individuals with typical communication skills for age level to individuals who have significant communication delays and disorders. In a review of CRIBBS data for 295 individuals, we have learned that 68% have received speech and/or language therapy at some time. Not all individuals have the same type or combination of communication disorders.

Developmental milestones for receptive (understanding) and expressive (spoken) language skills are delayed for some individuals:

  • 71% understood their name and other single words before one year of age
  • 47% spoke their first word(s) before one year of age
  • 42% put two words together before two years of age
  • 82% of individuals age three and older are able to speak in sentences

Articulation skills (how we produce the sounds of words) are a problem for at least half of individuals with BBS:

  • 55% of individuals older than 8 years of age indicate that there are speech sounds that are difficult to say
  • 52% of individuals older than age 5 are not easily understood by people who are unfamiliar with their speech patterns
  • 59% of individuals older than age 3 become frustrated when not understood

Some voice differences are also present:

  • 28% have a voice pitch that is considered too high for their age and sex
  • 9% have a voice pitch that is considered too low for their age and sex
  • 22% have a nasal voice quality
  • 16% have a breathy voice quality

Development of social communication is sometimes limited or delayed:

  • 67% of individuals greater than age 4 can engage in “small talk”, e.g., asking “how are you?”, etc.
  • 68% of individuals greater than age 3 can take turns in conversation

Of the information presented above, it is very encouraging that 82% of individuals in this group were able to speak in sentences and 68% were able to take turns in conversation by age 3. It is also encouraging that by age 8, 45% did not have difficulty producing speech sounds.

What can be done to encourage speech and language development? There are three things that are very important to development of production of speech sounds and words. First, the child must be able to hear the sounds and words. Secondly, they must understand the words before the words can become a meaningful part of their functional vocabulary. Third, they must learn that when they use words, they can relay information to a listener and get a response.

Below are some ideas to promote development of speech and language skills. It is not necessary to set aside a special time for this. You can engage in speech and language activities anywhere and anytime – even while waiting in waiting rooms for appointments!

For very young children and individuals with limited vocabulary and speech:

1) Be sure that your child’s hearing is adequate (more on that subject in a future newsletter).

2) Talk about what you are doing and seeing all day long. Use greetings and other social language. Children understand words before they become a permanent part of their vocabulary. For example, during bath time, talk about water, bubbles and body parts.

3) Imitate your child’s facial expressions and sounds. Encourage them to imitate you. Make it a game.

4) Maintain eye contact as much as possible when you are speaking. In addition, encourage the child to look in the direction of an activity or object you are describing,

5) Play games that encourage interaction and imitation, e.g., peek-a-boo and pat-a-cake.

6) Encourage gesture language, e.g., waving bye-bye and pointing to desired objects. Be sure that you use vocalizations along with these gestures, e.g., “Car, you want the car!”

7) Begin to read simple books. For first books, this could be books with a large picture of a single object or animal per page.

For children who have some words and beginning phrases:

1) Work on building understanding vocabulary by continuing to talk to your child. Use clear speech. Try not to use baby-talk. Talk about what is happening, who and what you are seeing. In addition to naming people, objects and activities, introduce words that describe, e.g., hot, cold, up, down, under, big, little, etc.

2) Expand what the child says. For example if the child says “Doggie”, you could say “Yes, doggie outside” or “Doggie is barking”.

3) Try not to correct the way the child says a word directly, rather, provide a correct model right after they have said the word incorrectly. For example if the child says “oat” for “boat”, you might respond with “I see the BOAT”. “BOAT”.

4) Sing simple songs and encourage your child to participate with sound and gestures, e.g., Itsy Bitsy Spider. Continue to sing even if they don’t participate.

5) Continue reading to your child. With early story books, look at the pictures and “tell” the story in your own words rather than just reading the words under the pictures.

6) Limit “electronics” time. If your child watches a program or listens to a book, watch and/or listen with them when you can and comment on what is happening or ask questions. Encourage them to use their words to describe what is happening in the program.

For older individuals with phrases and sentences:

1) Encourage appropriate use of social language, e.g., “Hello” or “Hi”, “Excuse me”, etc.

2) Be careful to encourage verbalization rather than falling into silent routines. Give choices that encourage use of words, e.g., “Do you want your red shoes or your brown shoes?”

3) Continue to talk about what is happening and what you think your child may be thinking, e.g., “This storm sounds kind of scary, but I don’t think we need to worry”. Or, “I think this is really funny, what do you think?” Allow time in the conversation for them to respond – even if they typically do not.

4) Provide language learning experiences and follow-up with real experiences, e.g., read about fire trucks and then take an opportunity to look at one up close at a community event.

5) Try to give your child your undivided attention when they want to speak with you.

Remember: Children hear words many times before they understand, imitate and produce them meaningfully. Keep talking!!

BBSFA's 2016 Conference: Watch Live

We're very excited to announce that several of the plenary sessions at this year's conference will be available via Facebook Live. The plan is subject to change, but the plan is to broadcast 3 sessions on Friday: Friday at 9am: Tim Ogden on the past, present and future of the family association, Friday at 10am: Dr. Bob Haws on the past, present and future of CRIBBS, Friday at 2pm: Dr. Nico Katsanis on the past, present and future of BBS research.

To watch, visit our Facebook page on Friday morning and a link will be there. If all goes well, the presentation videos will also be available for later viewing.

You can see the full agenda for the conference here.

Connect 2015 Online

We are very excited to offer, for the first time ever, the opportunity for members of the BBS community who cannot attend our conference in person to listen in and participate in conference sessions.

Even better, because of the generosity of the BBS Center of Excellence at Marshfield Clinic, we are able to offer this option for free. However, because of the potentially sensitive information that will be discussed in various sessions, you must register if you want to participate.

To register and participate via phone, click here.

Agenda for Connect 2015

Updated September 20th


8:30 to 9:15 Breakfast and late registration

9:15 to 9:30 Welcome and Overview: Dr. Robert Haws and Tim Ogden

9:30 to 10:00  Update on CRIBBS: Dr. Robert Haws

10:00 to 10:30  Nico Katsanis PhD (via video)
Proteasome activators and current work

10:30 to 11:00 Scott Hebbring PhD
CRISPR/Cas9 technology and its implications for BBS

11:00 to 11:15 Break

11:15 to 11:45  Hema Murali MD
Sleep disorders and BBS

11:45 to 12:15  Tammi Timmler MS RD  CD CDE
Nutrition, weight management and BBS

12:15 to 1:00  Lunch

1:00 to 2:30  Rachel Stankowski PhD (moderator)
Stages of life in BBS- Tim Ogden, Amy Arnesen, Linda and Melissa Rickard, Jane Perry and Ellyn Hunter

2:45 to 3:30 pm-  Break Out Session 1

1) Raising a Daughter with BBS
2) Raising a Son with BBS
3) Diet management (adults)
4) Guardianship and social services

3:30 to 4:15 pm-  Break Out Session 2

1) BBS101/Just Diagnosed, Now What?
2) Diet  management (children and adolescents)
3) BBS Adults Forum
4) IEPs/504 Plans and working with schools

4:20 to 5:05 pm- Break Out Session 3

1) Ask the Doctors: Nephrology, Ophthalmology, Endocrinology, Cardiology, Sleep

2) Diet  management (children and adolescents)

3) Dealing with Vision Loss

4) IEPs/504 Plans and working with schools 

6 pm- Picnic dinner

Events: Open discussion for families
Fire truck display
Seeing eye dogs interactive session
Cow/small animal petting “zoo”

Registration for BBSFA Connect 2015 Now Open

Our next conference will be held at the Marshfield Clinic BBS Center of Excellence on September 26th. 

BBSFA Connect 2015 is focused on helping BBS families connect with and learn from each other in addition to having the chance to hear directly from medical professionals who treat BBS patients.

Morning sessions will feature doctors from the BBS Center of Excellence. Afternoon sessions will be co-led by a member of the BBSFA and staff from Marshfield Clinic and focus on discussions between BBS families on the most important issues in daily life. There will be conversations on topics like Transitioning to Adulthood, BBS and the Teen Years, Newly Diagnosed, etc., all chosen by conference attendees. 

We’ll have more details on the agenda soon.

Click here to start the registration process.

We can’t wait to see you!

Update on Gene Therapy for Retinal Degeneration Trial

The first trial for a gene therapy treatment for a retinal degeneration was focused on a disease called Leber Congenital Amaurosis or LCA. The initial results were very promising. 

Three year follow-ups have been disappointing as this article reports. But as Dr. Eric Pierce, who spoke at our 2012 conference, says in the piece, it would have been shocking to see the very first attempt at gene therapy to restore degraded retinas work perfectly. The most important news is still the same: the technique shows promise.

Note that this article is from a business magazine so they take an overly pessimistic view, mainly concerned about the impact on the current stock price of a particular company, not about the scientific advances in general.

There are also a number of other gene therapy trials at different stages. The bottom line: there is still a long way to go, but progress is being made. 

BBSFA Connect 2015: September 26, Marshfield Clinic

We had a terrific response to our survey on holding a conference in 2015 and many families responded that they were interested. There was a slight preference among those who would definitely or probably attend for September 26th. We know this won’t work for everyone but there are no perfect dates. Holding the conference in September gave us more time to make sure we can make everything run as smoothly as possible. And it made it possible to have more BBS Center of Excellence clinics slots around the conference.

There will Center of Excellence clinics the week before and after. Currently there are 4 open slots for September 22-25 and 7 open slots for September 28 to October 1. If you are interested in attending the clinic please contact Dr. Haws’ staff as soon as possible at this link. The slots will go quickly.

Why: Some may be wondering why we are moving to having a conference every year. There are several reasons.

First, the BBS community is growing. We hear from families who are newly diagnosed or have newly found us every month. Waiting for more than a year for the possibility of attending a conference is too long.

Second, for both new and old members, it is impossible to find a date and location that works for everyone who would like to attend a conference. For families who couldn’t make a conference when they were held every 2 years, it meant that 4 years would pass before they had a chance to reconnect with other BBS families and to hear about progress on BBS treatment and research directly from the experts.

Third, there are unique challenges to living with BBS. We wanted to create more opportunities for BBS families to meet each other, learn from each other, and support each other. While Facebook is a great resource for connecting with other people affected by BBS, it’s still not the same as sitting down face-to-face. We felt having more of those opportunities was important.

Our plan is that we will now have a conference every year. Conferences in odd numbered years will be focused on connection and living with BBS; conferences in even-numbered years will be focused on research. That doesn’t mean that there will be no opportunities to connect and share with other BBS families at our research conferences or that there will be not discussion of research at our connection conferences, just that the two conferences will be different. Knowing that travel to a conference is time-consuming and expensive for everyone, and not always possible, at the 2015 conference we’re going to test out some tools to let people who can’t make it to the conference in person participate in some of the sessions via the Internet with live audio and video. We can’t guarantee that what we try will work well, or even work at all at this point, but we’re going to try.

Stay tuned for details on cost, registration, agenda, and remote participation.

Easy Ways You Can Support BBS Research

Giving Tuesday

Giving Tuesday is a grassroots effort to shift focus after Thanksgiving from shopping to giving. On the Tuesday after Thanksgiving (December 2nd this year) more and more people are making donations to their favorite charities and encouraging others to do so as well.

Now that we have officially received IRS charitable organization status, we can take part in Giving Tuesday. So won’t you make a donation to the BBS Foundation on December 2nd and ask the people around you to do so as well? When you do, make sure to post it on your Facebook page or on Twitter with #givingTuesday and encourage others to join in.

Amazon Smile

But opportunities to support BBS research and treatment this holiday season don’t end there. Amazon recently launched the Amazon Smile program. When you shop at 0.5% of your purchase is donated to the charity of your choice. It’s the exact same Amazon shopping experience with the exact same prices, you just get to support BBS research and treatment too.

Go to, search for Bardet Biedl Syndrome Foundation, and choose us as your designated charity. Then tell your friends and family to do the same before they do their Holiday shopping.

BBS Bracelets

But if you’re looking for a special gift that directly supports BBS, we’re now selling bracelets made by children with BBS and their siblings. Olivia Howard, a BBSFA member, is leading the effort. If you’d like to help out please contact Olivia. All profits from bracelet sales will go to the BBS Foundation. Check out the bracelets here.

BBS Weight Management Study

The BBS Family Association has partnered with the Marshfield Clinic to apply for a grant from the Patient Centered Outcomes Research Institute (PCORI) to study weight management in people affected by BBS. There is very little known about how people with BBS can effectively control their weight. Excess weight is a major contributor to illness in people with BBS and can be a barrier to enjoying life to the fullest for some.

PCORI was established by the US Congress as part of the Affordable Care Act. It funds research that addresses the questions and concerns most relevant to patients and caregivers. Certainly weight management in BBS is a major question and concern for many BBS families. Grants will be announced in April, but Dr. Haws and the Marshfield team are very optimistic that our proposal will make the cut. Stay tuned in the spring, as we hope to begin enrolling participants then.

CRIBBS Worldwide!

CRIBBS, the BBS clinical registry is off to a flying start. Not only have we been able to raise enough funds to accelerate the process of adding people to the registry, but now CRIBBS has received all the necessary approvals to include people who aren’t in the United States. Because there is personal medical information involved there are many steps of approvals required to reach this stage. Dr. Haws and his team have gone the extra mile to get it done this quickly. Being able to include people from all around the globe will make the BBS registry that much more useful to researchers.

If you know someone affected by BBS who hasn’t signed up for the registry yet, no matter where they are in the world, send them here.

Further proving the incredible job the CRIBBS team has done, the software developed for CRIBBS is now going to be used by other rare diseases for clinical registries. In other words, all the hard work and dollars invested in CRIBBS are already starting to change the world.

Donate to the BBS Fund

We have launched a BBS Fund to support the new BBS Clinical Registry as well as BBS research and treatment.

Click here to make a donation.

Up to $5000 of donations this weekend will be matched dollar for dollar. If you give $100, $200 will go the BBS Fund. But it’s this weekend only!

Update: We reached our goal! This weekend more than $10,000 was raised for the CRIBBS, the BBS Clinical Registry, and for the BBS Center of Excellence!