Imagine one day a person wakes up and no longer fits into what society deems as “normal.” They never realize why people look at them on the streets, so feelings of fright come into being, and then self-doubt and worry starts to consume their inner-self. Now each person’s fight has started. The negative voices in the individual’s head are about to take charge, and the body and mind are about to deal with a colossal amount of anxiety.
This is what it feels like to have vitiligo.
It is a skin condition caused by a loss of pigment in the skin which leads to white patches being formed on a person’s body. It feels as if you are no longer a part of society. Rather, you are an outsider, a quiet observer, a person who is listening and watching, but never participating.
There is so much pain and contempt that it becomes a state of comfort. It is difficult to get up and do anything. Such feelings have become a integral part of your identity and you are struggling to get rid of them. There is back and forth because there are days when one believes everything is within reach, that nothing can come in the way of success and achievement.
However, as soon as you step out of the house, this vicious cycle takes over.
It brings you down and exhausts you both internally and externally. There is constant dread when it comes to meeting people, sharing your opinions and doing new things. It even goes to the extent where walking on a street surrounded by people is a challenge within itself.
So, you start to distract yourself and try to focus on the positive, but that is so difficult to do when these emotions are all you know. People seek ways to blend in, by wearing cardigans, covering up so much that you have virtually lost your identity along the way.
Clothes represent a piece and form of entrapment at this point. All you want is a minute of sheer joy and pure happiness, a state of blissfulness.
Later on when we grow and learn from life’s experiences, there is a sense of realization: nothing is wrong with being different.
Society is just not comfortable with the idea of someone challenging the concept of normality. The distinctions which once etched your very existence have now become symbols which signify strength and power. This journey has led me to become more appreciative. I have finally learned to embody who I am and what I represent.
I am different, but I am not confined to my mind’s shackles.
I know I am so much more than my exterior.
I have slowly and gradually learned how to overcome.
Before you can understand what it’s like to date someone with anxiety, first you must understand anxiety itself. Anxiety is not a pretty disease. It’s not a beautiful and terrified damsel in distress or your friend who doesn’t want to ride a roller coaster because she’s scared of heights. Anxiety is uncontrollable shaking, constant hypersensitivity to your surroundings, and a complete lack of comfort in your own skin. It’s holding onto an apple core at lunch, watching and waiting for someone else to throw away their trash first so you know it’s OK. It’s suddenly becoming acutely aware you have no control over your unpredictable surroundings, and it’s the paralyzing terror of being around new people because you have no idea what to expect from them.
When it comes to dating someone with anxiety, you have to be willing to accept and accommodate these struggles. If a person with anxiety has opened up enough to date you, you must be important to them. As the relationship progresses and you grow closer to each other, you will become a vital part of their support system. If you continue to date, please understand first and foremost that anxiety is a very real illness and is caused by an imbalance in brain chemicals – it is not a reflection on that person’s courage or willpower. That being said, here are four things to keep in mind when dating someone with anxiety:
1. Be patient. As people who struggle with anxiety, we are often not confident in ourselves and tend to second guess everything. If someone with anxiety asks you something akin to “Are you mad at me?” or “Do you hate me?” or they apologize multiple times even after you have accepted it, please understand this insecurity is caused by mental illness. Even if you’re not mad, our brains like to pick up on the smallest of details and make mountains out of molehills. As we get to know you better, we will most likely become more comfortable and confident around you, but patience is vital in the beginning.
2. Be understanding. We are almost never comfortable in our surroundings, especially in crowded places or around people we don’t know. This can make the beginning of a relationship difficult. Understand we may not want to stay in a public place or be around unfamiliar people long (or perhaps at all) due to anxiety and may back out on a date or social gathering for that reason. Please try to respect that.
3. Ask. Ask. Ask. Often we don’t voice our opinions because we fear being rejected or angering you. Let us know early on you won’t be angered or put off by us speaking up. Ask us our opinions; it is rare we will tell you our thoughts outright until we know you really well. This will make communication easier and much less stressful for us and will strengthen the relationship.
4. Know that we appreciate you. Sometimes we get a little too caught up in our concern for everything going on in our lives and we forget to tell you how much we appreciate you. That is not your fault. We appreciate everything you do for us, and we love you for it. We are difficult people to deal with – trust us, we know. It’s the little things you do to put our minds at ease that mean the most. We thank you for all that you do to support us in the uphill battle that is anxiety.
At 16 years old, I find I’m an independent person. I don’t maybe have friends, but I’m not rude. I’m quite a kind person — I just don’t like being around many people at once.
I have sensory processing disorder (SPD) for starters, and often little things like sitting in my kitchen can cause me to have extreme panicky feelings. I find sitting anywhere besides my room is difficult because the material and fabric hurts my skin. My skin is very sensitive to touch. Sitting in chairs can cause me immense pain, and accidentally bumping into things can leave me sobbing on the floor, waiting for the pain to subside.
I can’t go to food courts, for the smell is too much for me to handle and the noise is so overwhelming. I do not like going to grocery stores. I can hear and sense the constant beeps and sharp noises from carts and materials rustling against each other and voices all around me. Even going to the mall or any group setting is a challenge.
Body odor, coffee, perfume, pungent foods, sweet things and spicy things make me cringe and evacuate the situation. Sharp noises, dishes hitting each other, toilets flushing, the television, multiple conversations happening at once, constant repeating sounds and deep rumbles make me uncomfortable and scared.
Sometimes, I feel like I have to rip the clothing I’m wearing off my body when I lay down at night. My shirt can feel like it is “choking” me or my pants are rubbing my skin the wrong way. Certain blankets scratch and itch my skin, making me freak out in tantrums from the way it feels against me. It gets to the point that I cannot relax. I can’t eat specific things because the texture bothers me and makes me convulse. I also cannot eat food that is not a certain flavor I’m used to.
After all of my normal daily tasks, I finally explode with my anger, rage and pent up aggression from being so tired of feeling uncomfortable in my own skin and in my own body. Everything is a challenge with SPD, and everything is a constant battle against your own senses and feelings. I feel like I cannot fully live my life because I’m always afraid of what could happen, how I might react to certain noises, smells or feelings.
I avoid everyday situations and feel like I’m not fully experiencing my life because I experience thingstoo much. I feel everything to an extent where it is debilitating on my needs and daily productivity. Exposure therapy is the only thing that has helped me in my journey through dealing with SPD. With my accompanied generalized anxiety disorder (GAD), major depressive disorder, panic disorder, derealization disorder, and bipolar II disorder, SPD can make all of these three times as worse than they already are.
It makes me shut me down, stay in my room, not take showers for days upon days, lose all sense of hygiene, stay hidden inside my room and regret I didn’t do more with the little time I have.
The little time I have relief, I still feel constant fear. I am a prisoner to my own problems, but I will not let them control how I deal with them. I force myself into uncomfortable situations on a daily basis to fight back against my senses and emotions. I constantly stride to learn and take power of my problems, letting myself know I am more than a name, a statistic or even just a hormonal teenager. I am me, and I’m unique and can deal with anything life throws at me.
Gaining knowledge of how to help, distract and accept myself is the only way I have made progress. That was the first step for me years ago, when I had my first bad episode. I consider learning about these illnesses and how to cope with them to be life lessons. They help you understand yourself better, and they are self-empowering.
Distractions are not always the key to moving forward. We need to learn to accept our emotions and senses before we push them away. We need to punch our problems in the face and say, “I’m not afraid of you.”
If you are struggling with similar issues, know this: You are strong, courageous and powerful. You are an unstoppable wildfire of amazing personality, worth and attitude that makes you a very special person. Always fight to change, no matter what that might look like to you. We all have little accomplishments we can hold onto, whether it be brushing your teeth for the first time in a week, getting out of bed to go to the kitchen for even a few minutes or talking to a friend or loved one. These accomplishments are there to remind us we are trying and we can do it.
Brookie has come such a long way from where she was at 15 months old in September 11, 2012. She is now 2 and a half! Back then, she was laying in a hospital bed and couldn’t move from the neck down. We were scared for her life and didn’t know what was wrong. She was diagnosed with Acute Idiopathic Transverse Myelitis. Since that diagnosis God has been working miracles. Brookie has gained back full movement from mid stomach up. She has been going to therapy between 3 and 5 days a week since October 2012 and seen countless numbers of doctors and specialists. Unfortunately, she has very little movement in her legs and she is still incontinent. We have not seen any drastic improvement in months and have been told by many doctors that this is about as good as she is going to get. We are not ready to settle for “as good as it will get”! We feel like there are more options out there for our daughter to try and are ready to start pursuing those options. Sadly many of these options include treatments that are not covered by insurance and we will incur costs for travel, hotel, etc.
The first treatment we would like to try is Hyperbaric Chamber treatment. It has been shown to help people that have spinal cord damage like Brookie’s. Because it is not covered by insurance we are taking on the cost ourselves. The first round will be 40 treatments. Each treatment is $140 and we will be doing 2 a day for a month.
We would really like to get Brookie into the Kennedy Kreiger Institute in Baltimore Maryland. They are doing cutting edge treatments on patients with Transverse Myelitis and we would like to see what they can do for Brookie. Some of this will be covered by insurance but a large portion will not be covered. Including airfare, hotel stays, time off of work, childcare for our other children etc. The cost for Kennedy Krieger will be in the few thousand dollar range when all is said and done.
We still need a few items for Brookie’s home physical therapy. She needs a treadmill, a special exercise bike, and a few custom made balancing/stretching tools.
Brookie is supposed to go visit her doctors in Seattle and her doctors in Dallas every 6 months. This cost has been too much for our family to take on ourselves so she is a little behind in her visits to them. Your donations would help her to get to these important visits.
Lastly, there is a Transverse Myelitis family camp in Kentucky every summer. The cost of flying our whole family down there and taking a week off of work is huge for us. We would love to go down there and meet other families that are going through the same things our family goes through. There are also doctors there from all over the country that have sessions on the research they are doing and treatments they are trying. It would be a huge blessing for our family to attend this summer.
All these costs added up are around $15,000 to $20,000. With some costs reoccurring every few months. Brookie’s daddy has just taken a job working in the North Dakota oilfields to help pay off this debt and pay for some of these expenses. We are going to miss him but are so proud that he is willing to work so hard to take care of our family and all of these expenses we have. As Brookie’s parents we will not stop until we know we have tried everything we can to get her well. It is hard to take on all these costs on our own and we are ready to reach out to you for help. Even if you can’t help financially if you could be praying that God keeps working miracles in Brookie’s healing we would be so grateful. She has come a long way since her initial diagnosis but she still has a long way to go.
God bless you in advance for your prayers and donations.
The Gossard Family
The piece is written by the mother of a boy who has the “kind of autism that no one wants to talk about”. And the kind of autism she means isn’t high functioning autism. Her article was written in response to a lawsuit in California where the family of a boy with autism, with similar behaviours to her own son, is being sued by several families in their neighbourhood. The lawsuit argues that their child is a “public nuisance” because his behaviour is out of control and that the safety of their children is at stake. They also claim that his parents have taken no responsibility for his actions nor have they done anything to remedy his behaviour. “For us this case is not really about autism,” said Robert Flowers, one of plaintiffs.
According to the author of the article “This is absolutely about autism. It’s just not about the autism people hear about”. She wrote about her own son who ran after children in the playground with the sole purpose of knocking them over. Her son hit, kicked, pulled hair, hugged her sometimes and other times hit her. She spoke about the isolation of autism and about eventually having to withdraw from society so that she could keep other people safe from her son. She shopped at 6:00am when there would be less people around. She touched on the subject of play date invitations being revoked as soon as she explained the issues her son had and her shame at that.
She concludes her article with the words “We can open our eyes and understand that autism isn’t all about the high functioning child who is “quirky” but OK to be around. Autism isn’t all about the six-year-old who can play Piano Man better than Billy Joel. Autism can be hard. Autism can be sad. Autism can be messy. Autism can be violent. Autism can be isolating”. She is right on all those counts.
I remember when my first daughter was diagnosed with Aspergers Syndrome four years ago. My first instinct was to protect her and to keep her diagnosis from society. I felt that if word of her diagnosis got out, she would be treated like an outcast. I even contemplated keeping it from her teachers. I couldn’t help feeling this way. I still remember sitting in the room after her diagnosis as the psychologist and speech therapist were still talking. I was miles away. I can only liken it to being in a swimming pool and hearing voices but not really tuning in to what they were saying. I had thought she would prove them wrong that day. I thought her teacher was over-reacting. I couldn’t believe it but deep down I knew that her behaviour and that of her twin sister at times weren’t altogether typical. I wasn’t expecting a diagnosis on the autism spectrum though. The only autism I was familiar with was severe autism in my extended family.
My girl has high functioning autism. She is a highly intelligent, articulate, witty and affectionate little girl as is her twin sister who was later diagnosed with ASD level 1. They are the “quirky” type that the author mentions. They have so many talents but that is not to say that they don’t find life hard and that they don’t have their challenges. They might be “ok to be around” most of the time but when things get too much for them, they can be difficult to be around. Thankfully the latter is becoming less and less as time goes on as we continue to work with them to enable them to achieve everything they are capable of achieving.
Back a few years ago, we thought we could continue to keep their diagnoses a secret. We couldn’t. They were different to their peers. When they went to parties, I was always worrying about them. I found myself having to explain before the party that they might want to go off and be on their own when it got too loud or too claustrophobic for them. That they might get overwhelmed. That they might get upset. Most parents are very understanding and almost intuitively knew that our girls needed a bit more space but there were others who struggled to get it. There were times when I had to collect them early with parents watching on, some pretending not to notice, some looking sympathetically and some staring. It was hard and I wished life could be easier for them and easier for us too, if I am to be honest.
I took a big gamble but felt that I owed it to my girls to put their story out there. The real story. I wanted to give those who thought they knew my girls an insight into the life of my girls and not the life they thought or assumed they had. People who saw the girls upset at parties or in public places assumed that they were like that all of the time. People who had never met my girls had an opinion of them that wasn’t completely accurate either.
The gamble to publish the piece about my girls paid off. People really responded to their story and in a good way. People were more understanding and suddenly the girls started to get invited to more parties. When they were allowed to just be themselves (which they were after I wrote my blog post!) they came home on a high and I got no phone calls to collect them early. I will always be grateful to the parents who included my girls and took that little bit of extra time with them so that they could enjoy parties with their peers in their own way.
When the word autism is mentioned, generally people tend to think the worst. Sometimes life with autism is a very difficult and neverending road but sometimes with the right interventions children diagnosed with autism can make huge leaps and go on to live a very full life.
When the girls were first diagnosed, I joined a group on Facebook for women on the autistic spectrum. Through this I have met and spoken to many articulate and bright females who have autism. Many are mothers with their own children. One such lady is Fiona O’Leary who was diagnosed with Aspergers at 42. She always knew she was different. Like many who have been diagnosed with autism in adulthood, it can be a relief to finally have an explanation. Fiona has appeared on TV and has written numerous articles about autism as well as being an autism advocate. She has five lovely children of her own and is married to Tim.
Adam Harris, founder of AsIAm.ie who also has Aspergers is living proof that intervention is invaluable to any child with autism. I have heard Adam tell his story and stand up in a crowded room to do so. He is amazing. He travels the country as an autism advocate to create a better awareness of autism and is an inspirational speaker. When you see how eloquent Adam is, it is hard to imagine that he spent three years of his primary education in a school for autistic children before being eventually integrated to mainstream school. Adam was lucky to have got the necessary interventions required to help him flourish. Not every child is so lucky. Waiting lists continue to lengthen and it is so sad that children who need immediate early intervention are having to wait for more than a year for an appointment for assessment with another wait for the necessary help. My girls have been three years on a waiting list for occupational therapy. Ireland has let down many of it’s future generation already and continues to do so. Parents of children with autism are often too tired to fight, some never getting a full nights sleep. They shouldn’t have to then fight for services for their children nor should they have to try to scrape enough money together for private therapies either. Their children deserve to be looked after. They deserve better. As journalist Brendan O’Connor recently said on live TV, the lack of support for people who have disabilities will cause Ireland to be called an “inhumane culture” in years to come.
When I wrote Double Trouble about my girls, I wanted to give hope to parents of newly diagnosed children with autism, if I could. Back in 2012, all I wanted to do was talk to someone with a positive story to tell about autism. It is very hard, at first, to be optimistic for the future when you get a diagnosis of autism for your child but I yearned for a happy ending. I wanted to talk to a mother who had been in my situation but was now in a better place. The principal at the girl’s school very kindly put me in touch with that person. She was a few years ahead of us in that her son, with high functioning autism, was then heading into his teenage years. She didn’t paint it in any other way than what it was – tough at times but that everything wasn’t going to be all doom and gloom. That phone call really boosted me and helped me to get focused. I was in shock for six months after the first diagnosis but that phone call spurred me into action to start putting things in place for the girls, including getting my second girl a private assessment.
I have been very vocal about autism because I want to raise awareness about autism. My only experience of it is being a mother to girls with high functioning autism so that is all I am really qualified to talk about. It is an absolutely massive spectrum and no two people with autism are the same. My girls are not the same. They couldn’t be more different. The life we have with our girls compared to the life of the parents of a child who has severe autism are very different. Of course we have to put in that extra effort with our girls to help them reach their true potential but we do feel very lucky that our girls are overcoming many of their obstacles. They are only getting better as they get older. This is not the case for every family unfortunately.
Our girls are really doing great now, but new challenges always arise. The one constant is that as parents we worry but at the same time try to keep a positive outlook on how they will do in the future.
Our autism journey and the journey of the author in the post above are very different but in some ways they are similar too. We used to have to avoid certain outings with the girls when they were younger. There are some things we still have to avoid but we try to make their lives as varied as possible. It means that they are better able to deal with sudden change. Life is not going to stay static so we would be doing a diservice to our girls if we tried to keep everything the same for them. I’m sure there are lots of things we could or should be doing but there is no handbook you get when your child gets a diagnosis of autism. You’re very much left to your own devices in this country. We can only continue to do our best and hope that that is good enough in the end.
Whatever level of the autistic spectrum you’re dealing with, it is tough for the child and it is very real for the child and the parents. Our experience of autism is a positive one. Our girls have come so far and are continuing on their journey to reaching for the stars. The sky is the limit for them. Positive stories need to be told and I like to keep a positive outlook. However, the very difficult stories need also to be told. If in the media we only approach autism in the context of the positive stories then we miss the terribly harsh reality of children and parents at all ends of the spectrum.
To conclude, we all need to be more autism aware. We need to be aware of the triumphs, the struggles and the individually unique experiences that every autistic child has. We need to remember that every autistic person has their own challenges but that some have more than others. We need to, as a nation, start fighting for children who are being neglected by the state instead of leaving it up to the exhausted parents of the children that need these services to help them be as good as they can be.
We as parents are immensely proud of our girls. We would love to be able to continue to protect them into the future but that isn’t always possible and we know that it’s a hard and cruel world out there. Our job is to put in the ground work now so that as many doors as possible open for them in the future. We can’t depend on the state to do it for us as services are so limited. Our girls have a lot to offer society and as Adam Harris has said “autism certainly makes life harder – but diversity also makes societies flourish”.
Extending the life of clotting factors may improve quality of life for people with haemophilia
For the parents of a child born with haemophilia, the diagnosis comes with both good and bad news. The good news is that the child, at least if he (or rarely, she) is born in the developed world, can expect a near-normal lifespan, up from a mere 20 years in 1970. The bad is that the parents must teach themselves to find their child’s veins, insert a needle and infuse him with a clotting factor to replace what he lacks. Parents must infuse a toddler as often as every other day, and children with haemophilia will have to continue that treatment for the rest of their lives.
But treatment is getting easier. Down the road, gene therapy and other approaches look likely to bring longer-term treatments for patients with the rare bleeding disorder. For now, improvement in treatment lies in the emergence of new, longer-lasting replacements for the blood-clotting factors missing from the blood of people with the condition. These therapies could stretch the time between infusions to days or even weeks. The first two such treatments were approved by the US Food and Drug Administration (FDA) earlier this year, and more are in the pipeline, with some expected to be approved in 2015. As these therapies emerge, dealing with haemophilia will become less troublesome (see below). This could increase compliance with treatment, reduce complications—and perhaps even allow some people to live almost as if they were free of the disease.
Replacing the clotting ability lacking in haemophilia has been the treatment since the 1840s, when attempts were made to treat people with the disease by transfusion with whole blood from people with normal clotting. By the end of the 1960s, freeze-dried concentrates of clotting factors were available for home use, to prevent spontaneous bleeding. In the 1990s, treatment leapt forward again, with donated plasma being replaced by clotting factors manufactured through recombinant DNA-technology, eliminating the transmission of viral diseases that had devastated the haemophiliac community in the 1970s and 1980s.
But prophylactic treatment still has its problems. The clotting factors do not last very long in the body. Depending on the person, the amount of factor VIII—the protein missing in haemophilia A—in the bloodstream drops by half in a mere 8–12 hours. Factor IX—which people with haemophilia B lack—lasts longer, 18–24 hours. Those short half-lives mean that most people with haemophilia must transfuse themselves every two or three days. And inserting a needle directly into a vein can be difficult. “Adherence to therapy is not great, because you have to inject yourself, and it’s a hassle,” says David Lillicrap, a professor of pathology and molecular medicine at Queen’s University in Kingston, Ontario, Canada.
One 2001 study suggested that up to 40% of people with severe haemophilia do not follow the prophylactic schedule. Those people are more likely to develop spontaneous bleeding that causes joints to fill with blood and results in progressive damage similar to arthritis. They can also develop intracranial bleeding, which can cause brain damage and even death.
Drug companies have responded with clotting factors that last longer, making the time between infusions greater. Biogen Idec, based in Cambridge, Massachusetts, has two such factors approved by the FDA this year. Eloctate, for haemophilia A, was approved in June and is recommended for an initial infusion once every four days, with a physician adjusting that up to five days or down to three as appropriate. Alprolix, the company’s treatment for haemophilia B approved in March, promises infusions once a week, and perhaps every ten days or two weeks in some patients. Other versions of the clotting factors from other drug developers are showing similar extensions of lifetimes.
“It’s a big improvement,” says Timothy Nichols, a cardiologist and pathologist who studies haemophilia at the University of North Carolina at Chapel Hill. “It’s not no treatment, but it is a lot easier than sticking a needle in your kid three times a week.”
Steven Pipe, a paediatric haematologist at the University of Michigan’s C. S. Mott Children’s Hospital in Ann Arbor, agrees that the progress is significant. In particular, work that is stretching the lifetime of factor IX by three to five times is “really transformative”, he says. And because half-lives can vary between patients, “at high doses, you could probably in some individual cases get a month’s worth of factor IX,” Pipe says.
The trick to extending the half-lives of clotting factors is to interfere with the body’s natural mechanisms for flushing them away. There are three very similar approaches, each of which extends half-life by about the same amount for the respective clotting factors. The only real difference is between factor IX, for which the techniques are offering extensions long enough to make a substantial difference in treatment, and factor VIII, for which the improvement has been more modest. Unfortunately, haemophilia A, which is caused by factor VIII deficiency, is about four times as common as haemophilia B.
Two of the techniques piggyback on the half-lives of other longer-lived proteins that occur naturally in the body. One such is immunoglobulin, a large Y-shaped protein with a half-life of about three weeks. The stem of the Y is known as the Fc region. When a clotting protein is fused to an Fc region, the body treats the clotting factor more like an immunoglobulin, and allows it to stick around for longer, although not for as long as a complete immunoglobulin molecule.
For factor VIII, Fc fusion extends the half-life from a maximum of about 12 hours to about 18 hours. Factor IX, which has a longer half-life to begin with, shows a more dramatic increase, from one day to five days.
Both the approved Biogen drugs are based on Fc fusion. Similar fusion drugs have been on the market to treat other diseases for many years, for example the rheumatoid arthritis drug Etanercept, which was approved by the FDA in 1998. Jerry Powell, the retired director of the Hemophilia Treatment Center at the University of California, Davis, says that the success of those drugs suggests that this is a safe approach to altering the clotting factors.
A similar approach, which is being pursued by CSL Behring, based in King of Prussia, Pennsylvania, is to fuse the clotting factors with albumin. Albumin is a major protein of blood plasma and, like immunoglobulin, has a half-life of about 20 days. Phase I safety studies of factor IX fused to albumin showed a fivefold increase in half-life, up to about four days. Unfortunately, attempts to do the same with factor VIII have been unsuccessful. Powell says that the albumin seems somehow to interfere with the normal activity of that clotting factor.
“These are really big molecules,” he says. The activity of factor VIII in action, he adds, is so complex that it resembles a dancing elephant—too easily thrown off its rhythm when something else is attached. “If you put the wrong kind of contraption on the elephant, it doesn’t dance as well.”
The third strategy takes a slightly different approach. Instead of marrying the clotting proteins to a natural substance in the body, they are attached to synthetic polyethylene glycol (PEG) molecules (see ‘PEGylation protection’). The PEG forms a sort of ‘watery cloud’ around the protein, protecting it from various mechanisms that would break it down; for instance, PEG prevents the clotting factors from binding to protein-specific receptors that would normally clear them away. PEG is eventually flushed from the body through the kidneys and liver, but before then it gives the clotting factors a new lease of life. Three large drug companies—Bayer in Leverkusen, Germany, Baxter International in Deerfield, Illinois, and the Danish company Novo Nordisk in Bagsvaerd—have all developed PEGylated factor VIII with a half-life of roughly 19 hours. Baxter expects to submit its product for regulatory approval by the end of this year, Bayer next year, and Novo Nordisk by 2018.
Novo Nordisk is also testing a PEGylated factor IX that has shown a half-life of 110 hours in clinical studies. The company says that it hopes to submit that drug for approval next year.
Up to now, tests have not shown much difference, in safety or effectiveness, between the three approaches. There are concerns that PEG might accumulate in the liver or kidneys over years of use, but studies of PEG have found it to have very low toxicity, and Powell thinks that those fears are exaggerated. “PEG’s been around a long time, there’s a lot of toxicology and all the toxicology indicates no concern,” Powell says. And if, as he expects, gene therapy replaces these treatments in the next decade, patients will in any case not have lifetime exposure to PEG.
One barrier to haemophilia therapy is the tendency of factor VIII to prompt the body into producing anti-factor VIII antibodies, known as inhibitors. For a person with haemophilia A, factor VIII is a foreign substance, and the immune system can see it as a threat. About 30% of people with haemophilia A develop inhibitors, and once they do, treating their bleeding becomes much more difficult. Only about 4% of people with haemophilia B develop inhibitors to factor IX.
There is a lot of worry, Pipe says, that altering factor VIII to extend its half-life could make the inhibitor problem worse. “Everyone treads lightly in the factor VIII field, because there is such a fear of immunogenicity with any change of the molecule,” he says. “There’s no question with the current strategies that all of them have sort of hit a ceiling. If we’re really going to overcome that ceiling, you are going to have to accept more dramatic changes to the molecule.”
PEG may prove helpful in that regard. Studies dating back to the 1970s have shown that PEGylation can reduce the chances of a foreign protein stimulating an immune reaction, although the effect has not yet been proved in people with haemophilia. “That’d be a huge breakthrough if that were true,” Powell says.
One researcher might have worked out a way to avoid the inhibitor issue almost entirely, by developing a different molecule to take the place of factor VIII in the clotting cascade.
Normally, once activated by previous steps in the cascade, factor VIII grabs hold of both factor IX and factor X, bringing them together to perform the next steps in the cascade. Midori Shima, director of the Hemophilia Center at Nara Medical University in Japan, has created a ‘bispecific’ antibody to do the same job.
Antibodies are immunoglobulins, and the upper arms of these Y-shaped proteins are designed to bind specifically to another molecule. Shima has created an antibody with one arm that binds to factor IX and the other to factor X, pulling the two together so that the clotting cascade can continue. The bispecific antibody has a half-life of about 30 days, much longer than the 12-hour upper limit of factor VIII, Shima says. Chugai Pharmaceuticals, based in Tokyo, and Hoffman-La Roche, based in Basel, Switzerland, are working on developing his findings into a treatment.
The researchers have not yet released the results of their phase II initial clinical trials, but Shima says that in the patients with haemophilia they looked at, bleeding frequency decreased dramatically. Among six people receiving the lowest dose of the treatment, who had each had 20–60 episodes of bleeding in the 12 weeks before the trial, two had no bleeding episodes at all during the 12 weeks of the trial. And out of 64 patients, only one developed an inhibitor. The team is planning a larger, phase III trial.
One bonus of this treatment is that because of the nature of the antibody, it does not have to be delivered intravenously, but instead can be injected under the skin, like insulin. “We think we can change the whole concept of haemophilia treatment,” Shima says.
Lillicrap agrees. “That bispecific antibody would be hugely disruptive if it works,” he says. “We’ll know within the next couple of years whether it delivers on the promise which so far it’s shown.”
Treatments with extended half-lives may provide benefits beyond the convenience of less-frequent infusions and the potential increase in the number of people who stick to their treatment regime. If people under treatment now keep to their current schedule with the extended-life products instead of taking fewer infusions, the increased concentration of clotting factors in their blood could improve their quality of life even further.
When patients have an infusion of clotting factor every 48 hours, the concentration of clotting factor initially reaches 100% of normal levels and stays there for about 12 hours. For the next 36 hours, it is high enough to be useful, but below normal. For the last 6 to 8 hours, the level is very low, less than 5%, Pipe says. Physicians try to keep the lowest level, the trough, from falling below 1% of the amount a non-haemophiliac person has circulating in their blood, enough to prevent spontaneous bleeding.
But if the trough level can be higher, it might make life easier for the patients, allowing them to, for instance, take up athletics with less fear of injury. “Ideally, you’d like to have zero bleeding,” Pipe says. “What is the threshold for that I don’t think anybody knows.” Still, there would be substantial benefit from a less-than-perfect level of clotting factor. “If you could maintain a level of 10% or 15%, you would probably eliminate all joint disease,” he says.
Lillicrap hopes that the emergence of several therapies means that it will make economic sense for drug companies to provide treatments to poorer parts of the world that have not been able to afford them. “No longer are people thinking about these therapies being only Western European and North American therapies,” he says. If pharmaceutical companies are pouring money into this research, he thinks that it is at least in part because they can see a worldwide profit benefit.
For all the advantages of these extended-life molecules, the researchers predict that they will be supplanted in perhaps a decade by advances in gene therapy, which will enable people with haemophilia to produce their own clotting factors. But in the meantime, trading current therapies for longer-lasting ones can improve patients’ lives. “As a bridging therapy between the really good outcomes we have currently and maybe a cure down the line,” says Pipe, “I think the extended-half-life molecules are a perfect transition.”
Albinism refers to a group of inherited conditions. People with albinism have little or no pigment in the eyes, skin and hair. Besides looking different, which may cause social problems, albinos also have various impairments. In the most severe form of albinism (called oculocutaneous albinism), those affected appear to have hair, skin, and iris color that are white or pink as well as vision defects. This article mainly concentrates on the eye problems resulting from albinism. The eyes need melanin pigment to develop normal vision. Because of that people with albinism have impaired vision. The skin also needs pigment for protection from sun damage so albinos sunburn themselves very easily and have increased risk of getting skin cancer. Less common types of albinism can also involve other problems.
Albinism often results extreme farsightedness or nearsightedness and astigmatism. Sight can be improved with glasses, however, normal or near normal vision is unusual even when glasses are worn.
Other common eye impairments include nystagmus and strabismus. Nystagmus is an involuntary movement of the eyes back and forth. One way how some people cope with this problem is by using a head tilt. This decreases the movement and may improve vision. For nystagmus treatment eye muscle surgery is also an option however this does not help in all cases.
Strabismus means that the eyes do not fixate and track together. In some cases the alignment of the eyes improves with the wearing of glasses. Young children are sometimes thought to use the non-preferred eye more. This is done by patching the other eye. However treatment cannot correct the improper routing of the nerves to the brain.
Photophobia also is a frequent disorder. In the case of photophobia the eyes are very sensitive to the sun. This can be coped with by wearing dark classes when exposed to the sun.
Albinism treatment mainly aims to ease symptoms and depends on the extent of the disorder. The skin and eyes must be protected from the sun. Sunglasses (UV protected) may relieve photophobia. Sunburn risk can be reduced by avoiding the sun, by using sunscreens and covering completely with clothing when exposed to sun. Sunscreens should have a high SPF (sun protection factor).
The best thing we have done as parents is sought out professional help. That has been our biggest source of support. Often, when we feel like we are isolated we have been so thankful to have a team of professionals around us who make sensory parenting feel normal and when we are struggling to see the sensory challenges because when we see behavior they help remind us. It’s part of the key to loving sensory parenting, because it’s so unlike typical parenting.
We didn’t seek out professional help for our daughter until she was 3 years old. We had been actively asking questions and talking to our medical doctor for about 2 years but constantly got brushed off that she would outgrow her challenging behaviors. As a family we ended up going to my private practice physician, her answers weren’t much better in regards to our daughter. I actually had printed off asensory checklist and brought it into this doctor and asked if this was what was going on. Miss Sensory had fit into several categories, in which, I could almost check everything off. The doctor said, I am not familiar with Sensory Processing Disorder and said she didn’t think so. Basically what happened was that she told us this was normal she thought we needed more discipline. I looked at her and said, if this is normal then we need help as parents.
She referred us to a child psychologist who actually specialized in adoption. We were concerned about having attachment issues since we adopted (we later learned that we were not dealing with attachment issues. Having a child psychologist as part of our team was really significant for us getting direction. She was the one that after several sessions said, I am thinking that you are dealing with Sensory Challenges and that you need to see an Occupational Therapist.
Having a child psychologist along the way has helped us. I will never forget in one of the first sessions when she looked at me and said, “This has been really hard for you because you are raising a special needs child.” She gets this, she helps us see beyond the disorder and see the child. She has helped to build my confidence as a mom again. Because my biggest question has always been, “Is this just me, did I make Miss Sensory this way?” She has reminded me that this is not my fault.
One of the most significant things she ever said to me was, “This is really hard for you, but it is a million times harder for her.” That statement weighs heavily on my mind on days where Miss Sensory is practically gyrating around the room, touching everything, colliding with everything, chatting constantly and is a mini tornado mode.
Since every child with Sensory Processing Disorder has a unique set of needs your child and family may have higher needs in other areas besides psychology. If you are looking for a psychologist to help your family please keep in mind that not all psychologists are familiar with Sensory Processing Disorder, make sure you find one that is.
If you are still looking for professional support here’s a few types of therapists to look for.
-Occupational Therapist (OT): There are different options when it comes to occupational therapists. Private Therapists, usually at a hospital or medical facility and there are School Occupational Therapists. The difference is that School OT’s are usually more focused on academic skills versus a private therapist has a much broader reach in their therapy. A pediatric occupational therapist with experience working with sensory processing disorder is what we sought out.
-Speech and Language Pathologist (SLP): We have had testing done and will be working a little bit with a Speech and Language Therapist in 2016 but haven’t had a high need in this area yet.
-Pediatric Development Optometrist: We will be going in for testing for Visual Processing in 2016 (I LOVE the wait time to get into places). The visual processing concerns where noticed in the speech and language testing. Once we have the results then we will know what our needs are as far as therapy.
According to the NHS, the number of eczema cases being reported has risen 40 per cent
in the past four years.
Whether you are unfortunate enough to be born with the skin condition or you develop it in later life, eczema can be painful, embarrassing and debilitating.
There are more than six million sufferers in the UK and, according to a survey by Lloyds Pharmacy, it can cause people to avoid intimacy, take time off work and cancel social events.
What can be done to get your skin back on track? Here are our tips from the health experts
What is eczema?
Eczema is red, flaky and itchy skin, which will often crack and weep. The most common type of eczema is atopic (caused by allergies), but people may suffer from contact eczema (flare-ups after touching allergens such as nickel or rubber), discoid (which occurs in coin-shaped patches), or seborrheic (eczema of the scalp).
Atopic eczema is in your genes, and often goes hand-in-hand with hay fever and asthma.
“You can send eczema into remission, but you’ll always have it – it’s a case of whether you have symptoms or not,” says GP Dr Rob Hicks . “The aim of the treatment is to keep people free from flare-ups.”
Although you may be genetically predisposed to eczema, it can only be set off by a trigger, which could be anything from nuts to dog hair, wool to cigarette smoke, and establishing what it is, is key to treatment.
1. Don’t scratch
Breaking the itch-scratch cycle is vital for recovery. “Scratching may bring temporary relief to the itch, but it actually triggers the release of a chemical called histamine which just causes more itching,” says Dr Rob.
Scratching damages the skin and may allow bacteria that normally lives on the surface to get in and cause infection. Keep nails short, and whenever you get the urge to have a scratch, massage the itchy area with moisturiser using the pads of your fingertips.
2. Slather on the cream
Most people will need to try a few treatments before they find one that works for them. The best way to treat eczema is moisturising. “You need to grease yourself up like a cross-Channel swimmer!” says GP Dr Matt Piccaver . “Cover your body with moisturiser morning and night, and keep a pot in your bag to top up during the day.”
Your doctor can prescribe different emollients, but not all of them will work for everyone. Apply after a shower when the skin’s still damp to help trap in moisture. Do this rigorously, even when you don’t have symptoms.
Don’t panic if your favourite cream stops working – you may need to switch between a couple of brands.
3. Visit the Doctor
For cases of severe eczema, your doctor may refer you to a dermatologist who can prescribe steroid cream, special bandages and wet wraps, or even ultraviolet light therapy.
Although steroids may have nasty side-effects if used long term, a short course is perfectly safe. If left untreated, severe eczema can cause lichenification, which causes the skin to become thick and leathery.
Dr Rob’s best treatment for a child suffering from eczema? “I recommend the parent gives the child a big hug to show that contact won’t hurt them. All too often people are frightened to touch sufferers because they’re worried about causing them pain, or of catching it – but eczema is not contagious,” says Dr Rob.
4. Go natural
There are plenty of ways you can soothe your skin naturally. Make sure your sheets are cotton, which is kinder to the skin than synthetic materials – you could even try wearing cotton gloves at night to prevent scratching. Oatbran has been used for centuries to treat skin conditions.
“Take a couple of handfuls of oatbran and pop it in a muslin bag or old pair of tights. Add the bag to your bath, or hang it from your showerhead to soothe sore skin,” says Dr Matt.
If a bath full of porridge doesn’t appeal, try aloe vera gel – keep it in the fridge so it’s cool and refreshing, or drink aloe vera juice. Coconut oil is favoured by many sufferers – choose an organic, cold pressed variety and rub onto damp skin.
There is often a link with your state of mind and your skin, so set aside time to relax. It is common for eczema to flare up during stressful periods, such as a break-up or starting a new job. “Find ways to reduce stress, such as meditation, yoga or therapy,” says nutritionist to the stars Kim Pearson . “It’s also important to get enough sleep.”
5. Watch out for Food triggers
Food allergies or sensitivities can be a common trigger for many eczema sufferers. Cow’s milk is a well-known culprit, but other common problem foods include eggs, soya and wheat.
Kim Pearson suggests considering a food elimination diet, which involves cutting
out common trigger foods for a period of time and then gradually reintroducing them to see if they cause a flare-up.
“Certain foods can promote inflammation – it’s worth trying to reduce your intake of sugar, refined carbohydrates, and highly processed and deep-fried foods,” she says. Keep a symptom and food diary to see if you can establish any links between what you eat and the state of your eczema.
For happy skin, make sure you eat plenty of foods that are rich in omega 3 fatty acids, such as oily fish, flaxseeds and walnuts. “Opt for low glycemic, whole carbohydrate sources such as oats, quinoa and sweet potato, as well as low-sugar fruits such as berries, apples and pears,” says Kim. All types of eczema can potentially be improved by changes in diet.
For more information on eczema, visit the British Skin Foundation .
Stress is not always something we consider as a cause of eczema. More often than not we look for external sources like the clothes we wear. But stress can trigger a number of different issues in our body, eczema being just one of them.
Here are a few simple ways to lower your stress levels
Have a bedtime bath
Slow your life down
Take a deep breath
Escape life by reading a book, playing a computer game
Rebecca Marriage, 43, a freelance marketeer from East Sussex, has learnt how to handle her eczema…
“I’ve had eczema all my life and have come to terms with it in my 40s. At school, I was called “porridge face” and couldn’t cover it with make-up because it irritated my skin.
It used to be on my body with a few facial patches, but it has moved entirely to my face, which swells up so I get deep creases around my eyes. My skin dries out so much that it cracks – I’ve had to teach myself to smile even when it’s painful.
It’s easy to withdraw from the world when having a flare-up, but isolating yourself is likely to make your symptoms more severe. Hiding away will only make you feel depressed, and there’s a link between eczema and negative emotional states. It takes a massive effort to be confident, but the pay-off is huge.
My eczema used to be constant, but now I only flare up once a week. There are lots of treatments, and you have to experiment to find which one works for you, but the biggest battle is self-acceptance.
I found the prescription cream Protopic has made a huge difference, as it doesn’t seem to affect my collagen levels, and I like Purepotions Skin Salvation cream.
I recently found a foundation my skin could handle – it’s called Lycogel, and was originally developed for people recovering from plastic surgery.”
Researchers find otherwise rare speech disorder affects nearly 65 percent of children with autism; call for screening and treatment
A new study finds that the relatively rare speech disorder apraxia affects nearly 65 percent of children with autism. The finding is important because apraxia warrants a specific type of therapy not otherwise part of an autism intervention program.
“Children with apraxia have difficulty coordinating the use of their tongue, lips, mouth and jaw to accurately produce speech sounds, so that each time they say the same word, it comes out differently, and even their parents have difficulty understanding them,” explains developmental behavioral pediatrician Cheryl Tierney, of the Pennsylvania College of Medicine.
Dr. Tierney co-authored the new report, in the Journal of Developmental and Behavioral Pediatrics In it, she and her colleagues emphasize the importance of keeping both conditions in mind when evaluating a child for either one.
The researchers assessed 30 children, ages 15 months to 5 years, seen at their developmental communication clinic. Their follow-up testing showed that 64 percent of the children initially diagnosed with autism also had apraxia, and 37 percent of the children initially diagnosed with apraxia also had autism. By contrast, apraxia occurs in just 1 or 2 out of 1,000 children in the general population. Autism affects 1 in 68.
Developmental experts have long noted autism and apraxia frequently coincide. The new study, though small, underscores just how commonly this overlap may occur.
Both conditions can be improved with early intervention, though each warrants a different intervention. In particular, the researchers emphasize that nonverbal children diagnosed with either autism or apraxia should continue to be screened for the other condition until they start talking.
“Children with autism frequently present with communication challenges including delayed speech and language development,” notes speech-language pathologist Donna Murray, senior director of the Autism Speaks Autism Treatment Network (ATN). “Speech-language pathologists are trained to identify the signs and symptoms of apraxia and will be able to assist families of children with autism in understanding the nature of their child’s communication delays and develop an intervention plan to treat apraxia if needed.”