ASXL Registry Newsletter

From the ASXL Registry Team:

Dear Registry Families,

We are pleased to share the second issue of our ASXL Registry newsletter. 

Additionally, we would like to take this time to assure you that the ASXL Registry is still operational during the pandemic and we would be happy to address any questions or concerns through our new email: ASXL-Chromatin-Registry@mednet.ucla.edu

Please stay safe and healthy. 

Best Wishes, 

The ASXL Registry Team

RDD 2020 BOS video

It’s #RareDiseaseDay! Anna Doggett, Contracts Administrator of Quanticate, shares how her family has been impacted by Bohring-Opitz Syndrome, a #RareDisease with only 200 diagnosis worldwide.

Thank you so much, Anna and Quanticate for this amazing video about Bohring-Opitz Syndrome.

Below you find her speech written.

“Hello, I’m Anna and I work at Quanticate! Today we are celebrating Rare Disease Day. My youngest grandson, Ben, has Bohring-Opitz Syndrome (BOS). BOS is an extremely rare condition. To be considered rare, a disease occurs in less than 200,000 individuals in the United States or less than 5 per 10,0000 individuals in the European Union. There have been approximately 200 diagnosed cases of BOS worldwide, with approximately half of those who are sadly no longer with us.

We were told when Ben was diagnosed at the age of 7 months that we should not expect him to live beyond his 2nd birthday – he will be 8 in August! We recently had a newly diagnosed man, who is aged 30!

There is along list of symptoms associated with BOS. Ben cannot sit unaided, cannot talk or walk, but does communicate through pointing at pictures and some sign language, and through school we know that he has learnt his colours, numbers, shapes, animals, etc.

Most of the children suffer with scoliosis, reflux, failure to thrive, growth retardation, craniosynostosis, seizures – the list is very long.

I helped to set up a website – you will be able to find the link attached to this article. There is a wealth of information on there, and this has led to a lot more children and adults being diagnosed.

Sadly there has been very little research into BOS – ironically this is mainly because it is so rare!

On a positive side – these children are extremely happy and teach us so much about life and indeed how to live it – one day at a time!

Quanticate are joining with pharmaceuticals to fight rare diseases!”

BOS and monogenic obesity

Source: Research report
The tale of two genes: from next-generation sequencing to phenotype

In Case Report “The tale of two genes: from next-generation sequencing to phenotype” an 18-year-old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 – Bohring-Opitz Syndrome. In addition, a maternally inherited and likely pathogenic variant in the MC4R associated with monogenic obesity.

Dual genetic diagnosis is rare and results in unique clinical phenotypes which makes it difficult to make a diagnosis based on the phenotype of the patient.

When two genetic conditions are present with contradicting clinical features, it can be particularly challenging for making a treatment and management plan. Obesity is not a usual feature of Bohring-Opitz Syndrome (BOS) and has only been reported in one case previously. The patient has significant increased BMI between age 3 and 5 ½ which was not explained by medications or endocrinoligical problems. In contrast, the patient had all the classic features of BOS, but the MC4R variant likely caused abnormal accumulation of body fat, thereby rescuing the patient from failure to thrive at age 15.

The exact impact of the MC4R variant on the ASXL1 variant and his prognosis is unclear, but it may be the reason for his non-classical phenotype, i.e. obesity in teen years. The case reported herein signifies how the presence of a second genetic diagnosis, can modify the classic presentation of a well-described syndrome, and why the possibility of a genetic dual diagnosis should be considered in cases with unusual phenotypical features. This case highlights the utility of next-generation sequencing in patients with unique, unrecognizable phenotypes for several domains of precision medicine including (1) diagnosis; (2) prognosis and outcome; (3) management and therapy.


Source: Mersedeh Rohanizadegan, Aishwarya Siddharth, Kyle Retterer, et al. The tale of two genes-from next generation sequencing to phenotype Cold Spring Harb Mol Case Stud published online January 22, 2020. Access the most recent version at doi:10.1101/mcs.a004846

Infant Massage Techniques

Published by Oxford University Press the doctors B Herd, J Chiang, M Patterson, V Regueiro concluded in their recent article “The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome” that infant massage can offer initial support and they suggest that further research is needed to integrate infant massage into the clinical treatment of patients with Bohring-Opitz Syndrome for better health outcomes.

“Infant massage is a supportive intervention with documented positive effects in medically-fragile infants, suggesting its potential as a non-pharmacological treatment in Bohring-Opitz Syndrome (BOS).”

The boy, born after 32 weeks of pregnancy, exhibited typical characteristics of Bohring-Opitz Syndrome: chronic respiratory problems and infections, nutritional problems, epilepsy and prolonged sedation wean. The doctors gave infant massage about 15 minutes a week on hands and feet, with the aim of lowering the heart rate. A reduced heart rate was measured after all massage sessions. The massage, given over a period of 3 months, decreased non-purposeful body movements, increased tactile orientation as well as improved nutritional intolerance and resulted in a timely discharge from the hospital.

The doctors concluded that patients with Bohring-Opitz Syndrome can benefit from infant massage. They suggest that further research is needed to integrate infant massage into the clinical treatment of patients with BOS for better health outcomes.

Parent of a child with Bohring-Opitz syndrome often face the question: “What is the best we can we do for our child?” and making a good choice out many therapies isn’t easy. To find out which therapies our children can benefit from, the Bohring-Opitz Parent support group is a good source to learn from each other. But for doctors it is slightly different, they cannot base their treatment on experience reports out a support group and information about clinical management of patients with BOS is limited. Only when a (scientific) study has been published about different therapies and treatments, they may be seriously considered whether it will benefit their patient. For this background we welcome and appreciate that therapies and treatment options for patients with Bohring-Opitz Syndrome are continued to be published, so that perhaps other children can benefit from it.


Read here the article: B Herd, J Chiang, M Patterson, V Regueiro, C-62 The Physiological Effects of Infant Massage Techniques in a 17-month-old Patient with Bohring-Opitz Syndrome, Archives of Clinical Neuropsychology, Volume 34, Issue 6, August 2019, Page 1091, https://doi.org/10.1093/arclin/acz034.224

Thank you Eva for being here …

Eva Ercolani

Since we have known what syndrome our little angel was affected with, we have been even more admirative and proud of Eva, and of her fight.

But we do not understand why our children must experience this.

We are sure of one thing : Eva has transformed us forever and has filled us with love, not only us the parents, but also all those around her. She positively changed our vision of life and of the afterlife, forever.

Read here Eva’s story …

Only a few days to go

We are less than 3 weeks away from the ASXL Conference in Ann Arbor, Michigan and you can register by 5 July!

The ASXL Conference organized by the ASXL Rare Research Endowment (AЯRE) Foundation – in partnership with Leo’s Lighthouse, Simons Variation in Individuals Project (VIP) and the University of Michigan – will take place in Ann Arbor, Michigan on July 19-21.

Other than last year, the BOS Foundation decided not to partner with the AЯRE Foundation. Instead, they will facilitate their own Meet-up for Bohring-Opitz Families only, which will take place in Philadelphia just a week later.

At the BOS foundation event too, families will have the opportunity to get an update on the ASXL registry by Bianca Russell and Wen-Hann Tan and to give blood samples for the ASXL Registry. Furthermore, the BOS Foundation invited Dr. Samantha Vergano to speak on her latest project with NORD, which we are curious about. Similar to what the AЯRE Foundation organized at the first ASXL Conference in Los Angeles, here too, there will be an opportunity to take 3D pictures facilitated by Facebase.

The ASXL Conference brings professionals and families with an individual having either Bohring-Opitz, Shashi-Pena or Bainbridge-Ropers Syndrome together. It is an extraordinary opportunity for families and medical healthcare providers to meet each other in a casual fun way and to learn from each other.

This years conference will be bigger and better than all related events of the past:

– More than two dozen speakers and presenters!

– Livestream presentations!

– Workshops and presentations designed for families with topics like special needs trust, CBD treatment, respiratory tract issues and lots more

– Latest knowledge from the ASXL registry, lead by Bianca Russell and Wen-Hann Tan.

– Get your own 3D photograph taken and helpresearchers to further develop the ASXL representation in the Facebase-3D Project sponsored by the National Institute of Health. 

– Possibility to participate in a video about diagnosis, finding a community, and the patient experience created by Simmons VIP.

– Fun activities at Revel & Roll, Picknick at Washtenaw County’s County Farm Park and catered lunch and dinner.

– And last but not least don’t miss the special guests: therapy dogs!


Friday

Learning from the first conference the AЯRE Foundation the Friday agendas is now split in two parts: one for professionals, hosted at the University of Michigan (family attendance is optional) and one especially for families, hosted at the Hilton Garden Inn Ann Arbor.

Source: AЯRE
Source: AЯRE

Free lunch will be catered at both the family’s and professional’s event. The ASXL Family Dinner at Revel & Roll (including adaptive Bowling & Arcade) is wheelchair accessible and transportation from the hotel to the dinner will be provided.

Saturday

The Medical Research & Family Day on Saturday is especially designed for families. It offers different workshops and the opportunity to contribute to the Simons VIP & ASXL Biobank and to ASXL Registry enrollment. We can’t emphasize enough the importance of creating the cell lines necessary for entire ASXL research, including for Bohring-Opitz Syndrome. Same as last year you can have your 3D picture taken by Facebase Project, and meanwhile help the researchers in their goal to provide better diagnosis by isolating the shape variation associated with specific syndromes.

Source: AЯRE

Sunday

Source: Washtenaw Country’s County Farm Park

Sunday is Fun-day: Meet each other at Washtenaw County’s County Farm Park, exchange on your learnings from Friday and Saturday activities or just have some fun on the farm’s ADA (Americans with Disabilities Act) accessible playground .

If you are unable to attend in person, please be sure to sign up online if you’d like to join the livestream video feed. Please go to arrefoundation.org for registration information.

Don’t miss this incredible opportunity, not just for yourself but to bring all your fellow families a significant step towards a better life for all ASXL individuals and their families, including Bohring-Opitz Syndrome!

We can’t wait and look forward to see you in Ann Arbor!

Last minute project

Here our last minute project for our awesome Bohring-Opitz Dads: A Jumping BOS. Just download the printable Bohring-Opitz Syndrome Jumping BOS Dad, cut and assemble.

Happy Father’s Day!


Bohring-Opitz Syndrome Dad
Super Dad
Jumping Jack
Colouring Page
Happy Father's Day
Download here your Bohring-Opitz Jumping BOS Dad – Colouring Picture
Download here your Bohring-Opitz Jumping BOS Dad

Do you have a Bohring-Opitz Super Hero? Download here your printable “Bohring-Opitz Super Hero Jumping Jack”.

Download here your Bohring-Opitz Super Hero Jumping BOS
Download here your Bohring-Opitz Super Hero Jumping BOS – colouring picture

Do you like it? We really appreciate your consideration to make a donation to the AЯRE Foundation. Thank you for your support!


Credit: M.Gulan

Mother’s Day

“All the lessons you have learned along the way, all the strength you’ve gathered, all the ways in which you now better understand unconditional love, and kindness, and the value of life — all of that is what makes you the wonderful mother you are and exactly who your child needs.”
– The Mighty

HAPPY MOTHER’S DAY

BOS/ ASXL Conference

The 2nd ASXL Conference will be held at the University of Michigan, Ann Arbor! The 2019 ASXL Conference (July 19-21) will include informational workshops, equipment and therapy fair, family focus groups with medical specialist facilitators, opportunities to submit samples for biobanking and enroll in the ASXL registry, bbq with therapy dogs at the park, and more!

Registration & Scholarship

Registration is FREE of charge for all families. AЯRE Foundation will be subsidizing hotel rooms for ALL families at the 2019 ASXL Conference. Travel scholarships are available for families in need. Please visit the website to complete this simple form and apply.

Family participation at the conference (in person and virtually) is critical to keep momentum and engagement with the medical and scientific community.

Please visit the website for more information and click on Register to complete the Eventbrite registration.

Hope to see you in July!!

Today is BOS day!

Gold and Denim for Bohring-Opitz Syndrome Awareness Day April 6th

Good morning dear BOS Family,

Today, April 6th is Bohring-Opitz Syndrome Awareness Day. This day was chosen because that’s the day that the Bohring-Opitz Syndrome support group was created on Facebook, on April 6th 2011! This group has helped so many families to connect all over the world!

With this awareness day we want to encourages people to learn more about Bohring-Opitz Syndrome to improve the lives of children and their families and caregivers living with this rare genetic condition.

Why this colors? Many children with Bohring-Opitz Syndrome are suffering from high myopia. Contrasting colors like blue and yellow are the best perceived colors. Bohring-Opitz Syndrome is a rare genetic condition. Less than 60 cases are reported in medical literature worldwide. These are official numbers but here in our support group the number is now estimated to be closer to 200 families. However, throughout new diagnoses and available and better genetic testing, the number of children diagnosed with BOS became significant higher, Bohring-Opitz Syndrome is still ultra-rare and underdiagnosed. So that’s why we chose blue denim as awareness color for rare and genetic diseases. The second color is gold because our children love shimmering objects. And above all, our children are worth their weight in gold. The diamond is to honor all our children who became wings too early.

We are excited to see so much engagement for us, the BOS Family.

The Bohring-Opitz Syndrome Foundation is still dedicated to raise awareness for Bohring-Opitz Syndrome. In their press release (http://bos-foundation.org/blog/2019/4/5/spreading-awareness-of-bohring-opitz-syndrome-ultra-rare-syndrome-celebrates-its-day-in-the-spotlight you can read how they continue to strive to improve the quality of life for families living with BOS.

BOS Awareness Day (source: BOS Foundation)

Today is also the day that the ASXL Rare Research Endowment (AЯRE ) Foundation celebrates her first Anniversary. Happy Birthday AЯRE!

The AЯRE Foundation was born to support research that will increase our understanding of the ASXL genes and to improve the treatment of individuals with congenital ASXL mutations. 

The leading cause for Bohring-Opitz is a mutation in the ASXL1 gene. ASXL1 belongs to human gene family with 3 members (ASXL1, ASXL2 – Shashi-Pena, and ASXL3 – Bainbridge-Ropers). There are many similarities between these three groups and they have much more in common than different.

ASXL Diagram by Caitlin Calder (source: http://www.arrefoundation.org)

AЯRE key tenets include good stewardship of our resources and transparency. For this day the AЯRE Foundation published her donor summary: https://www.arrefoundation.org/arre-donor-summary-2018.

Priorities of the AЯRE Foundation. Donor Summary 2018. (Source http://www.arrefoundation.org)

However we sometimes have the feeling that too little is known about the syndrome,  researchers are continue working on Bohring-Opitz syndrome. Did you know that in the past year that more than 10 new publications have been published about BOS?

We would like to highlight the work of Dr. Bianca Russell and Dr. Wen-Hann Tan, who have done amazing progress in the research history of Bohring Opitz Syndrome due creating the Bohring-Opitz Patient Registry. If you haven’t enrolled yet, please consider to participate to the patient registry. Only research is creating new knowledge!

On the last ASXL conference in Los Angeles Dr. Bianca Russell (The first year of the Bohring-Opitz Patient Registry ) and Dr. Wen-Hann Tan (ASXL1 Clinical Discussion) gave presentations about ASXL1/Bohring-Opitz. You can read and watch the presentations on the News Page of the AЯRE Foundation. The latest publication of Dr. Bianca Russell and Dr. Wen-Hann Tan  you can read here:  Bohring-Opitz Syndrome (https://www.ncbi.nlm.nih.gov/books/NBK481833/) If you are interested to learn more about Bohring-Opitz, you find more articles on our website.

We are optimistic for the future of the BOS Family and looking forward to see all your personal creations and how you mark this special day! Let’s bring together children living with BOS, their families and caregivers out of isolation and put them in the spotlight by wearing GOLD & BLUE DENIM on April 6th!