SUSANNA BORTOLUSSO ALI – One on One Interview with Liz Philbert
Q. Having just completed your first year as Executive Lead at Sickle Cell Awareness Group of Ontario (SCAGO) what is your vision for SCAGO in the next 3 years?
A. In 2016, we carved out a 5-year strategic plan focused on five areas: Research, Care and Treatment, Education and Support, Awareness, and Advocacy and Advancement through Collaboration. To this end, I think SCAGO has worked hard at engaging important policy-making stakeholders at the provincial level over the past year or two to raise awareness and to advocate on behalf of our members. It is especially gratifying when we speak with an MPP or councilor and there is some recognition of the disease and its social impact.
We have a collective vision at SCAGO, but my personal focus is to see SCAGO continue to work towards facilitating access to a provincial standard of care unaffected by geography. Ontario is a huge province and our members can be found in many towns and cities where comprehensive care is not available. Many healthcare providers have never seen or managed a person with SCD. SCAGO has a role to play in this process, by promoting, advocating for and monitoring the use of a standard of care guidelines and working to link less supported health care providers with present centers of excellence throughout the province.
Q. Can you explain the effects of Sickle Cell Disease on a family?
A. People immediately think of the difficulties associated with the painful nature of SCD and the suffering associated with a lifetime of health issues and frequent hospital admissions. Equally important though is the psychological and socio-economic burden that patients and their families will and do face.
The impact of the disease starts at diagnosis when so many parents describe a sense of overwhelming guilt on learning they have passed on an abnormal gene to their child. Most parents have no idea they carry the sickle cell gene. It is one of the reasons we are so committed to educating at-risk communities to get tested and know their status so that they can make informed choices when it comes to planning families. Unaffected siblings too describe a sense of guilt for being ‘the lucky ones’. In any family dealing with a child with a chronic illness, parents constantly struggle or try to share their time and attention fairly between the other kids, their jobs and all the other demands life puts in our way. Everyone is constantly compromising and too often, difficult decisions have to be made, as the health demands of their child cause frequent absences from work. Decreased earning potential and economical fragility are common among families affected by SCD. Every aspect of family life is affected and I am always inspired by so many strong, resilient families who despite the challenges, continue to face life head-on.
Q. What are some of the misconceptions about Sickle Cell?
One of the greatest misconceptions is related to how someone gets the disease. Haemoglobin is the oxygen-carrying pigment that makes red blood red. The gene that determines which type of haemoglobin our body will make is passed on from a parent to their baby. A parent with sickle cell trait has both a sickle gene as well as a normal haemoglobin gene and may pass either on to their child. If both parents have sickle cell trait then there is a 25% chance, with each pregnancy, that they will both pass on the sickle gene to their child. A child that gets 2 sickle genes will only make sickle haemoglobin and so will have the most severe type of sickle cell disease, commonly known as sickle cell anaemia.
There are two important points to make here: 1) both parents will have passed on an abnormal haemoglobin gene to their child and 2) this can occur with every pregnancy. Too often parents have a first child with sickle cell disease and choose to have another child because they do not think it can happen again.
Hydroxyurea (HU) is a drug commonly used to modify the severity of sickle cell disease. It dramatically improves the quality of life of persons with SCD and reduces the rate of both acute complications and chronic organ damage.
The other important misconception is related to the use of HU. Many people still believe that HU causes cancer despite there is no statistical evidence to suggest this. Like all drugs, HU may have side effects, and monitoring by knowledgeable health care providers is required, but the improvement in the quality of life far outweighs the usually mild and reversible side effects for the majority of people.
A. Are there any new drugs for Sickle Cell patients that excite you?
Q. About 20 years ago, hydroxyurea (HU) was introduced as a disease-modifying drug for SCD. It has been transformative in how it improves the quality of life of people with SCD but it does have some limitations. After a long dry spell when nothing new was available for SCD, the FDA approved a new drug, L-glutamine, a few months ago. L-Glutamine has been found to reduce many of the acute complications of SCD. It has fewer side effects than HU but it may not be as effective. It is certainly good to have an option for people who cannot tolerate HU and hopefully it will become available in the Canadian Health Care system soon. Additionally, there are other promising disease-modifying drugs at various stages in Clinical Trials.
I am most excited however by the early results of therapies that aim to cure people with SCD including advances in stem cell transplants and gene manipulation. Bone marrow/stem cell transplants have traditionally only been offered to persons with very severe, life-threatening disease as the risk of complications were considered too high for it to be offered as standard treatment. Much great work is being done to decrease those complications and I suspect that this therapy will be increasingly available in the future. There is also phenomenal work being done in the area of gene manipulation. Scientists are finding ways of activating the production of haemoglobin F (baby haemoglobin that has a protective role in SCD) and of editing the genes that code for sickle haemoglobin to actually cure the disease permanently. We are some years away from this being available, but this is very exciting work.
A. As you get more familiar with the Sickle Cell communities in Ontario, how is the level of Sickle Cell awareness different in the Caribbean?
Q. If you look at the Caribbean as a whole, there are some islands such as Jamaica and the French Islands of Martinique and Guadeloupe that have a very advanced care of people with sickle cell disease. Education is a priority on these islands and population awareness through not perfect is increasing. On other islands, however, population awareness is still woefully lacking.
The population in Ontario is different in that there is wonderful ancestral, ethnic and cultural diversity in the province. Among the groups most commonly affected by SCD (those of African, Afro-Caribbean, Middle Eastern, Mediterranean and South Asian background) there is some awareness about the disease, but stigma and misperceptions born from different cultural and religious beliefs can be a challenge. I think that where there are Centers of Excellence, a lot of time is invested in education by both health care professionals and advocacy groups such as SCAGO. Knowledge among the general population, however, is very limited in Ontario and this impact how people with the sickle cell disease are viewed in schools, in the workplace and even in hospitals when they present in severe pain requiring strong pain medication.
http://sicklecellanemia.ca GTA: 416-745-4267