Asian Mentoring Scheme
2012 – 2013
Progress Report
Alström Syndrome is a rare recessively inherited disease causing childhood blindness, hearing
loss, heart failure, kidney failure, diabetes type 2 and many associated problems. Statistics have
shown that there is an increased risk of a child being born with a genetic condition within
families where consanguineous marriages are customary.
The Asian Mentoring Scheme was established to address this issue within the Asian population
who were affected by Alström Syndrome, and despite the fact that we were aware of how rare
this condition was we always felt that there may be Asian families within the UK who had not
yet received a diagnosis. We were also aware that some Asian people may be reluctant to contact
support groups and engage with professionals as they are often very well supported within their
own families and communities.
The purpose of this project was to identify these families, provide access to medical care at our
specialized multi-disciplinary clinics in Birmingham, work with the whole family to ensure
everyone was aware of the risks of having further children with this condition so that they were
able to make informed choices about future pregnancies and to support families to learn more
about Alström Syndrome to enable them to effectively manage the condition.
I am pleased to report that the Asian Mentoring Scheme continues to grow from strength to
strength and we are extremely proud of our achievements. We feel we are meeting the aims and
objectives of the project and are helping to improve outcomes for families.
Iram has now successfully completed her degree in Special Needs and Inclusion and has
increased her workload with ASUK, including work on the Asian Mentoring Scheme. Together,
Iram and I work on a national basis supporting all of our Asian families throughout the UK.
Families have responded extremely well to the project and contact us on a regular basis for
guidance and support.
We continue to liaise with professionals from Health, Education and Social Care and both hold
an Honorary Contract with Birmingham Children’s Hospital. We advocate on behalf of families
and have challenged professionals on a number of occasions when needs are not being met.
Iram and I both have children diagnosed with Alström Syndrome and therefore parents often find
it easier to relate to us as they feel we have some understanding of what they are going through.
However, while there are many similarities in the experiences of our families, we always remain
mindful that families are individuals and their experiences are unique. While we are there to
offer guidance and support, we must not impose our own views on how to manage this condition
on to others.
We do still have a great deal to learn about the cultural needs of our Asian families and we will
continue to take all necessary steps to ensure we gain this knowledge and that all needs are
addressed.
Our Family Conference 2013 was another great success and many Asian families attended. One
comment was made on the day “I have never seen so many Asian people attend a conference of
this nature before”. We received positive feedback from families and professionals on the day
and I felt proud to see all families socializing and supporting one another. We are now a very
diverse and accessible charity.
The graph below highlights the increase in Asian families attending the conference since the start
of this project.
Numbers of Families
Families attending the
Alstrom Syndrome Conference
19
20
14
13
15
10
White, British
6
5
11
Asian
5
0
2011
2012
2013
Year
For the purpose of this graph we have only included families and individuals diagnosed with the
condition. A total of 108 people attended the conference this year. The number of White British
families looks to be decreasing, however, we have sadly lost two of our adults this year and a
few families had prior engagements with young people taking exams and others attending family
events.
The graph below demonstrates the number of young people attending the children’s outing
during the conference.
Children attending the
Alstrom Syndrome Conference Trip
25
Numbers of children
25
20
17
16
13
15
12
White, British
7
10
Asian
5
0
2011
2012
Year
2013
Many fathers accompanied their children on the trip and relationships have developed between
the different families. They now meet and socialize together outside of the planned ASUK
events, particularly in the Birmingham area.
We have held workshops to allow parents to gain a greater understanding of the condition and
introduced round table meetings during the clinics to ensure parents are informed of any new
developments in the understanding and treatment of Alström Syndrome. By facilitating these
events and giving encouragement to parents, their confidence has grown. At the beginning of this
project many of our Asian families did not feel able to challenge professionals or ask questions if
they did not fully understand, however, particular parents are now very vocal. Parents who do
not speak English fluently will now ask for Iram to be involved in their consultations and with
her support and interpreting skills, they are becoming increasingly knowledgeable about the
condition and the health needs of their children. Our medical handbook has now been translated
into Urdu and many families have requested a copy. This is helping them to understand the
condition but also being used to explain the condition to wider family members.
As predicted, our numbers have increased during this project through our efforts to raise
awareness of the condition, our links within communities and particularly through our work with
the whole family. When working with families we have occasionally found other members with
this condition in the UK and we are also aware of people in Pakistan.
The graph below highlights the ethnic origin of all ASUK families:
Ethnicity of Families affected by Alstrom
Syndrome
Amount of people affected
35
30
25
20
15
10
5
0
White, British
Asian,
Pakistani
Asian,
Bangladeshi
Asian, Indian
White, Irish
Dual Heritage
Ethnic Origin
The graph below highlights the increase in referrals of Asian families:
Asian Families Diagnosed with Alstrom
Syndrome
Number of people diagnosed
30
25
20
15
10
5
0
Prior to 2008
2008
2009
2010
Year
2011
2012
2013
The graph below highlights the relationship between parents of children with Alström Syndrome:
Relationship Between Parents
Number of people diagnosed
25
20
15
10
5
0
First Cousins
Second Cousins Distantly Related
Not Sure
No Relation
Year
We have identified 8 different people who have been given an alternative diagnosis. We still see
this as a great achievement as we have given these families answers and access to medical care
and support services that many of them have been waiting many years for.
Alternative Diagnosis
Number of people diagnosed
3
2
1
0
Roger's Syndrome
Wolfram
Syndrome
Leber's Amaurosis Laurence Moon
Bardet Biedle
Syndrome
Name of condition
No Genetic
Condition
The graph below highlights the relationship between parents of children who were given an
alternative diagnosis:
Relationship Between Parents
(Alternative Diagnosis)
Number of people diagnosed
7
6
5
4
3
2
1
0
First Cousins
Second Cousins Distantly Related
Not Sure
No Relation
Year
Unfortunately, we do still feel that there continues to be families throughout the UK who have
not yet received a diagnosis and we will continue to try and find effective ways to increase
awareness within communities and Health, Education and Social Services. We will also be
increasing awareness in Leicester, Luton and London as research has shown that there are high
Asian populations in these areas. The earlier a person is diagnosed with this condition, the sooner
we can ensure they receive support from the excellent multi-disciplinary clinics we have in
Birmingham and receive support from our staff and families at ASUK. Also, the more patients
we can identify in the UK, the more we are able to inform future innovative research.
Pre-implantation Genetic Diagnosis (PGD) is a procedure we would like to see become available
to our families. This will allow two parents who are carriers of the ALMS1 gene to have a baby
who will not be affected by Alström Syndrome. A license must be obtained for this procedure
and once we identify a family who may want to go through this process, we will support them
alongside Genetic Alliance UK. As an organization we have wanted a family to go through this
process for some time as once a license is granted, this may then be used by other families
affected by the condition.
One of the main aims of this project was to prevent children being born with this condition. PGD
will prevent a child being born with Alström Syndrome; however it will not rule out other
genetic conditions.
A number of our siblings have now decided to have carrier testing to determine whether they are
carriers of the ALMS1 gene and many of our teenage and adult siblings have told their parents
that they do not want to marry within the family. One parent has managed to convince all of her
family to be tested. This is a highly consanguineous family where two siblings have married two
first cousins who are also siblings, therefore any children they have may potentially be born with
the condition.
I must stress that Alström Syndrome UK do not frown upon consanguineous marriages, we
simply want to support families to develop an understanding of the risks of future pregnancies in
families where there is an identified genetic condition. Parents do not need to be related to have a
child affected by Alström Syndrome; however it does increase the risk.
To be truly representative of our families, our Trustee’s have been seeking Asian representatives
on the board. We have tried for a number of years but without success. However, the father of
one of our most recently diagnosed members has now agreed to join and he is making a
marvelous impact on the board. He works in the Equality and Diversity Unit at Bradford
University and the skills he has developed in this role combined with being a parent of a child
with Alström Syndrome and his understanding of Asian culture makes him a very effective
Trustee.
Many organizations still report that they are unable to engage Asian families in their support
groups and to access specialized multi-disciplinary clinics. I am pleased to say that this is now
certainly not the case for ASUK. I still feel that there are more families we have not yet
identified in the UK and we will continue to raise awareness and find effective ways to engage
them.
We would now like to increase representation from black and ethnic minority groups and
travellers. People from the travelling community also often marry within their family and we
would welcome the opportunity to reach out to the community in the same way we have through
the Asian Mentoring Scheme. We want to ensure we are accessible to all members of society.
We have attended a number of conferences and delivered presentations at events throughout the
UK and Europe to demonstrate the work of our charity, including the Asian Mentoring Scheme.
I am currently exploring the possibility of working with our teams in Birmingham to publish a
paper on the work of the Asian Mentoring Scheme. Last year I reported that we had linked three
families in different parts of the UK who were all related. Our doctors have now gone on to
study their genes as part of our Big Lottery Medical and Scientific Research Project.
During the planning of this project we identified 7 possible outcomes:

A user led service which could become a role model for other rare disease groups

A reduction in the number of children born to Asian families with Alström Syndrome

An educated patient group who can manage their disease more effectively and lead a
better quality of life

An empowered patient group who know of the reproductive options available to them
and the consequence of carrier status

An increased awareness of cultural issues amongst our medics

An advocacy service for those people who are not able to express their needs directly

A support service available to the whole family
We feel we are currently meeting all of these outcomes but there is still much work to be done.
We have some truly remarkable and courageous families and we feel privileged to work with
each and every one of them!
Kerry Leeson-Beevers, Development Manager
For more information about the project, please contact Kerry on 01709 210151 / 07716135950 or
email Kerry.leeson@alstrom.org.uk
Acknowledgements
All of our Families – without their involvement and cooperation this project would not have been
a success.
Kay Parkinson, Founder and Director of ASUK – Kay was instrumental in developing this project
and continues to oversea its progression. She has fought tirelessly for Alström patients since
she founded the charity in 1998 and is now forging links and applying for research grants
throughout Europe.
Julia Scott, ASUK Fundraiser – Julia has raised a phenomenal amount of money for ASUK
which has benefited the lives of all of our families.
The Sylvia Adam’s Charitable Trust has been our main funding provider throughout this project.
They have recognized and value our achievements, despite the fact that we are rare and we
can’t thank them enough for their continuous support.
NHS England – provides funding for the specialised multi-disciplinary clinics. They have
recognized the importance of the Asian Mentoring Scheme and contributed funding.
Professor Barrett and the Paediatric multi-disciplinary team at Birmingham Children’s Hospital –
provides excellent medical care for children and young people with Alström Syndrome.
Dr Tarek Hiwot and the adult multi-disciplinary team at Queen Elizabeth Hospital, Birmingham –
the team have recently taken over the care of our adults and they provide excellent care.
Thank you to all individual grant providers who have contributed to this project.