Genome editing; The way for people affected by genetic conditions

Today, I attended the Genetic Alliance workshop to talk about genome editing and what this means for cancer and rare diseases such as mine. 
There were 250 applications nation wide and I was shortlisted as part of 17 to be an ambassador for this project. 

This isn’t linked to my day job but my voluntary work with the sickle cell community in the U.K.

My friend, Sajid was also there to represent Thalassemia, another similar genetic blood disorder like sickle cell. I adore Sajid. He is so damn witty. 

So, basically you have a complete set of genes in almost every healthy cell in your body. One set of all these genes, (plus the DNA between the genes), is called a genome. 23 of our chromosomes make up these genomes. 

Genomics is the study of genomes. 

If we get the Genomics medical treatment right, the U.K.could be the first in the world to revolutionize treatments for genetic diseases. Now there is a thin line between diseases you are inherently born with and those you acquire later in life and a good example of this is HIV. You could inherit it from birth or acquire it. Cancer could be in this category too. 

One of the challenges is finding actual conditions that are specifically caused by flawed genetic coding to be able to apply genomes sequencing treatment to an individual. There is of course, all the ethical ramifications and controversies (media being one) that come with global trials such as this. 

Former Facebook President, Sean Parker is funding this in the States. He compares this trial to the “Manhattan Project”.

The Chinese are pioneering phases of gene editing.

In the U.K., we are. 

It seems to be a global competitive process in modern medicine. But why shouldn’t it? 

There are over 6,000 rare diseases in the world and so many children and adults are still undiagnosed. 

It’s one thing to have a genetic condition and be diagnosed and it’s another thing all together not to know what you suffer from and therefore have no access to treatment.

I was lucky to be diagnosed a couple of months after my birth when my mum couldn’t understand after she had fed me and changed my nappies and I would still be quite distressed and cry uncontrollably. Until one day, the midwife asked her to bring me in for tests (it was Guy’s hospital then) and voila, “ma’am your baby has sickle cell”! Early 80s? Go figure! 

4 million diagnosed people with sickle cell globally.

So the next step (after the the first breakthrough of British scientists creating and completing the genetic code of every human being) is to revolutionize genetic treatments further. 

These geniuses have started the ‘reading’ of the human genome which forms our DNA, letter by letter and this process is called sequencing. 

Fetal gene therapy (and the controversial eugenics) are other trials that are ongoing but all have one similar theme- correction! 

I love people in the Sciences. 

Why am I interested? 

At least 80 percent of rare diseases are genomic with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions – sickle cell is quite straightforward. 

Now some people may argue that sickle cell was borne from the mutation of hemoglobin genes in geographical areas quite tropical and high in malaria, which somehow means carriers of the traits are immune to malaria and there are other similar conditions too quite similar in analogy. However, I believe that there has to be some advancements to life as we evolve which corrects or re-writes these spelling genetic codes with less interference on our DNA. 

As most rare diseases are inherited, the genomes of the affected individual (usually a child) plus two of their closest blood relatives will be included to pinpoint the cause of the condition.

There is a real opportunity here for people like me living with sickle cell and generations to come to benefit from what could be a new discovery of our DNA coding and how it could potentially be a life saving reality for people with genetic disorders and cancers. 

I have followed this subject since the U.K. Government announced its funding for the programme under the NHS. I even applied for a job in NHS England to be a programme manager as part of their team. 

I am now pleased to be involved with this revolutionary process and what could become a phenomenal reality for future generations. Who knows? Watch this space. 

We will be opportune to visit the genomics lab in Kings Cross shortly. No one gets easy access there btw. 

My highlight today was being able to meet a number of people with other rare genetic conditions across England and it was such an eclectic crowd this afternoon and a learning curve for me too. Each of us looked so great that I couldn’t physically see the condition that any of them suffered from and that’s one of the beauties of life. You see people everyday and you don’t know what they may be going through or internalizing. 

My Distressed Heritage of Pain

When Courtney asked me to write a blog on how I deal with pain, my immediate thought and response to him was – ‘yes, sure but I must say, sickle pain feels like long history’. 

Does it? I asked myself. 

I was on a pain train. The positive side which I am grateful for is that the train has seized to move for a couple of years and I hope not to have this train resume it’s movement ever again. 

The last time I had any sort of major sickle pain was in 2012. 
Before this time. I would have an average of one acute chest syndrome crisis in a year – specifically during the winters. My crisis were usually around this time of the year, predominantly my chest and back, throbbing in excruciating pain that rendered me helpless. These crises would always start in the middle of the night with minimal oxygenation. I called it the ‘nocturnal crises’. 

Who else tends to have a crisis between 1am and 4am? 

How have I dealt with pain? 

If I am being honest, not a great deal. When/if my sickle pain is enough to make me dial 999 to get an ambulance to my flat, then seeking medical help in hospital is the only way I can confirm I have dealt with pain. 

Generally, I get two levels of pain. The one described above where honestly speaking, I cannot help myself and the low level pain which is often quite isolated – perhaps in the fingers, or just the ankle, or my jaw, wrist etc. This kind of pain is usually negligible and I can work and play through it, sometimes without any pain relief. I have to add that my threshold for pain exceeds reality. I can cope for hours without pain relief until I get to excruciating levels before I scream for help. This isn’t good. 

One of my doctors told me as much as I have a great level of pain threshold and tend to avoid pain relief due to the hallucinations after being given them, sometimes stopping the sickling is a good thing to prevent further organ damage. The only way to stop it is to manage the pain. 

But, I have never really liked the effects of the strong opiates so I try to avoid them as much as I can. 

Anyway, If I get the pain in more than one area at the same time, then that’s enough warning for me to start medicating at home with my locally prescribed analgesics.

I would take a cocktail of codeine and Ibuprofen, drink about half a liter of water, put out any noise around me, have a lie with a snug blanket and have a little snooze. More than half the time, I wake up feeling pain-free. If I neglect the initial sickling pain nudging on more than two areas for too long, I am likely to have failed in managing my condition at home. I would have guessed at this point, that I have sickled in more parts of my body compared to when it started so I am likely to run into problems. 

But rather than focus on how I deal with pain in sickle, I tend to focus on how to avoid pain in the first instance as I tend to be more proactive and less reactive in my care. 

With the help of the hematology clinical team, and a substantive understanding of how sickle affects my body and my condition, my quality of life is great. 

My treatment- Hydroxicarbamide is the treatment I have used to date to manage my sickle care. When I started a number of years ago, I was frightened of the toxicity of the drug and how it may potentially affect me. However, it’s affected me quite positively and I get no pain. I have never suffered any sickle complications as a child or adult. My blood levels and HB fetal are great. My fatigue levels are better than it used to be. I don’t get jaundiced eyes or nails, I haven’t suffered any ACS or chest infections. No transfusions! My health has been generally great. 

I do get the occasional headaches and my nails get dark from time to time. I am more than happy to live with those side effects than to have pain and constant hospitalisations, the side effects are non- existent (and superficial) in the scheme of things. 

I have a great career, I am widely travelled, I volunteer and help communities,

I enjoy culture and have a great social life and my mental health is amazing. I have my own charity in Africa which supports people with sickle. I participate in every thing sickle nationally and locally where possible.

I attend the sickle cell children’s holiday and it’s so fulfilling to care for the little ones with sickle cell. 

I volunteer for the Sickle Cell Society and support the Hackney support group, SOLACE.

I work with clinicians at specialist centres to support service improvement programmes in sickle services. 

I write blogs, poetry, books, watch lots of movies, analyse them and drink lots of water, teas and of course eat cake. 

My diet is fine. I try to eat my greens and fruits. My partner helps me with cooking healthy diets. However, no kidding, I snack on lots of crisps, nuts, etc

I do not drink soda and I rarely eat fried foods but I love a good old steak and some spinach and kale on a Wednesday! 

I drink 6-8 glasses of water a day. 2 when I wake up, 2-3 at work and 2 before bed. Side effects? Lots of toilet breaks. 

I drink alcohol very rarely and when I drink, I have a nice red wine but must drink lots of water before and after. I have never smoked and I practice yoga and do exercise at home when I feel energetic during the week. 

I dance a lot too!

Because I travel up to 5 times a year, sometimes. when I fly, I drink lots of water the day before and the morning of my flight. So I don’t get a crisis after a long haul flight. 

I stay away from caffeine. I take frequent breaks and hydrate a lot and dress up warm. 

I buy my annual world travel insurance for protection and always have my travel prophylactics if I travel to Africa 

The NHS are a caring organisation and I care about the NHS because they ‘got’ me. It is why I chose a career in health (after working for the Foreign Office) and have worked on local and national projects in England. My job is highly pressured but the NHS cares about people so the legislations protect me from any potential harassment due to my long term condition. 

I take lots of leave, when I am tired. I book spas and massages to help me rejuvenate. 

I read a lot. Books, articles, news etc

Above all, I live life and sometimes forget I live with sickle cell. My mindset is mostly positive and I believe in mind over matter. 

I have a loving family and partner who love me to the moon and few amazing friends who look out for me always. 

I care about everyone suffering with sickle cell and I believe focus should be less in dealing with pain and more in avoiding pain all together. Make the right choices. 

Life is too short to be in constant pain…

The power is in our hands. 

A clasp for anywhere the sun shines 

Winter lasts 3 months and we are on our 2nd. Nearly there. As grateful as I am that we have had warmer winters in the last couple of years, it’s not so great for the wild or our environment. I am that selfless and I genuinely care about global warming and that’s why I recycle and don’t drive!!! But I am not one of those “Live Green” freaks who would rather walk or take the ferry to France or Greece when I can fly. Sorry! I think modern hippies are cute but I will fly to the Isle of Man because I can!!!
After all living in London already reduces one’s life span by what, a year or 2 due to excessive carbon monoxide so??? 

This is the wrong approach and I would not teach my child, niece, nephew or god kids this. 

But this isn’t necessarily about the cold weather because I believe more in wearing appropriate clothing and less in bad weather. There is just something about winters that makes me eat more, sleep more, I am always deadbeat, I hibernate, unenthused about my existence, everything. But the worst weeks are usually after the holidays when I suffer ‘holiday blues’. I am just down in the dumps for no reason. Nothing bad has happened. Things are great but I am just not feeling it. So my best friends and my sister may ask me what’s up and I can’t give a real reason why I am DITD. Every November, I look forward to the Christmas and New Year breaks even though I tend to work between both because it’s usually quiet. Why should I waste my annual leave to stay at home when I can go into an empty office over the season and work?? However, I have realised I need routine and structure after a few days because I am the most restless person who ever lived. There is something seriously wrong with me. I am not sure whether it’s a bit of my psychosis. It’s unsettling to be settled. 3 days at home doing nothing is great, absolutely fantastic, a week is manageable, I can binge on Netflix or watch 7 series of Mad Men for the umpteenth time, catch up with my books/documentaries and gossip with my friends and sister or just rearrange the flat based on a style I pinned or found on Pinterest. 2 weeks is certainly pushing it and I gradually begin to slide into depression especially if I haven’t got any form of structure throughout that time. It’s why I cannot afford not to work for any reason known to man. I hate work but I like working. I always write about wanting to be like a German Hausfrau living in the country and working on an animal farm with my wellies, selling fresh milk and fresh farm eggs but I think I could potentially struggle with that reality. 
Like Anne, my 70 year old BFF/nan, I think I have SAD (winter blues) I just haven’t been clinically diagnosed. She has. I told her, and she blew her cigarette smoke rings in my face like she was telling me off in a disapproving way. Tsk! But Anne, why would I want to claim SAD when I don’t have it?? She responds saying because anyone who feels down in the winter is using the term as an excuse. Ok, whatever!
I have told her to stop smoking but she said she went to the hospital recently and after a few tests, the doctors were concerned about her. She then said to the doctor, ‘maybe I should stop smoking’ and his response was ‘whether you stop or not it will make no difference’. So she walked out of the clinic feeling elated and we both laughed hard at that thought. I love Anne. She is brilliant. She always says she wants to give me away in church. Ha!
Anyway back to winter. I am sure my neighbours wonder if I have gone absolutely bonkass when I wear a negligee or similar and stand outside my infamous balcony on a cold sunny winter day just to have a bit of sunlight kiss my face. I stare at them and give them the middle ‘bent’ finger and they hurriedly cease to look. I may seem crazy but you wonder why my vitamin d levels suddenly went from ‘undetectable’ to 80 and the doctors thought it was a miracle. It was indeed a miracle and of course my insanity. There is a reason why I was born in June and why my surname means ‘summer’ or whatever it means. I am a summer baby. No, actually, I am a Spring girl. I can’t stand too hot or too cold. This weather and I are not friends. I have been speaking to my sister about going away and she laughs because she and I know I am under some form of restraint from travelling, well, within the next 4 months ( I haven’t been arrested) but I am dreaming of all the wonderful tropics, safaris and beaches I could visit in February and I am sitting on my floor (that’s my default position when I am sad, I sit on the floor) thinking why my life has to be this way. Why can’t I let go and just think about travel when I am ready. I am like a junkie suffering withdrawal symptoms. This is a test of my resilience. These are symptoms of SAD. I am even told by my partner that I am mentioning destinations like Havana, Sri Lanka, Maldives, Costa Rica, Zanzibar, LA, Cape Verde, Barbados in my sleep on top of the fucking weird noises I make when I sleep. Poor guy! He doesn’t only have to put up with me kicking him out of bed in the middle of the night, or waking up and finding he is hanging at the edge of the cliff (sorry, bed) and even worse, I am making these sounds that sound like trains approaching, I am also having to list these holiday destinations and he is wondering, who the fuck am I dating?! But I tell him, psychos attract, babba. But as hard as it is for me to admit. I think there are good things about winters too. The ability to snuggle with someone you love in your warm home and drink earl grey tea all day, or home made mulled wine with lots of cinnamon, wear a onesie, watch tele together, light candles and sleep with a hot water bottle when he isn’t there. Blankets everywhere even by the fire place, working from home in your P.Js, lots of hot chocolate in the cafes, soups and seasonal vegetables, the Central line is heaven in the winter (putting aside the B.Os) and hell in the summer, those fluffy warm slippers and oversized jumpers and joggers which tend to make me look so unattractive and fat and he tells me ‘you look great in that outfit’ and I tell him ‘thanks for lying, babba’ followed by a kiss. But the highlight is waking up to get a cup of tea and buttered rolls in bed after having a lie in is the best especially on a Sunday morning 😍 until I am told I need to leave the house for a walk to help circulation then I throw my fucking tantrums like a right bitch that I am. The worst part of the story in all of this is that I am off to Prague for a weekend in a week and I fucking hate it! It’s like the fucking Langjokull Glacier for Chrissakes. Speaking of which, I am not missing Reykjavik next winter. I will find a cabin with a hot tub and a fire place and shack up there. You can come with some beers and lots of food. I am looking for friends to join me. Just bring lots of money, Iceland is expensive! So I am here asking myself, who goes to Prague in the middle of Jan? Who does that? I DOES that! 

The Gold Experience 

It’s Friday night and I am waiting for N to come up to bed and watch Graham Norton with me. Very loudly, I hear the speakers booming with Prince’s ‘The Most Beautiful Girl in the World’ 

Awww 😍

As I was whatsapping him to say I adore that song, he text first to say this song is for you. My heart was so happy. Love him. 

It’s the little things. I love Prince, he adores Prince. We both do and and I love that song. Beautiful evening…

RIP Prince…☂️💜

For everything I am…

I am grateful for my cheekbones, my thigh gap, my brown skin. I love it when he calls me his ‘little brown aubergine’ and I feel so cute because it’s endearing enough for me. I am grateful for my long legs, my dimples, my perky breasts and butt, my coarse black natural hair. I am grateful for my short nails, my bushy eyebrows, slender fingers even though my middle finger (aka the fuck-you finger) is bent. I love my laugh and that I still cry when I watch moving movies. I cried watching ‘Forest Gump’ yesterday. I am grateful for all my features. I love my strength and my vulnerability. I am content within my own body, my heart and soul. I am grateful for everything I am and will ever be. I am beautiful. I hope my legacy is beautiful too. I want to be able to positively influence as many lives as I can. I want to always love with the right consciousness, to muster as much love and light as I (the vessel) can receive from (the light) my creator.