A massive thank you.

As a supply teacher (mathematics) I am in the very privalaged position of being invited over the threshold and into the lives of quite literally thousands of children. As such I have encountered such a massive range of personalities, issues, and problems that seem to invade what should be a tranquil and positive mindset of those so young.

The educational setting can be a tough environment for some of our young folk and coping with it is hard. For some it is askng the impossible and they need a little more help and support to get them through the day. This not specifically a reference to those with the deletion, moreover it is a reference to those with any form of issue that presents as a barrier to them accessing their day in a positive way. This can be the student who was too tired the week through in order to stay on top of their homework and can not bring themselves to have that conversation with their subject teachers, those students who lie awake at night worrying about their sibblings and don't want to burden their parents with such things because they think the parent already has far too much to cope with already. Yes I am talking about young carers!

As a parent I am so very very proud of my children and I adore them, they are my life. My son humbles me in so many ways and is beyond doubt my hero. He deals with issues and problems of such intensity that other children would crumble at (it would be natural for them to do so too). I'm sure that many of you can relate to what I am saying here. 

Thank goodness for the young carers charity in our local area who have dedicated and commited themselves to helping these young people. We owe s uch to them and the opportunities they provide.

Only recently my son was invited to attend and particiate in a trip away. A three day trip aboard a sailing vessel where they all had to pitch in and raise the sails, scrub the decks, work together, talk together, and play together, be children together and build memories that will last a lifetime!!

So this is a short but personally important thank you to all the staff at the young carers charity. Especially those in my my local area of Scarborough in the UK.

 

THANK YOU.

You are valued more than you will ever know.

 

15Q11.2 del - A Spectrum disorder

I have had a few personal issues just recently that have gotten in the way of me working on the site, apologies for that one. However, I'm back  and wanting to share more experiences of 15q11.2 bp1 to bp2 micro deletion - in other words Burnside-Butler Syndrome.

I have come to understand 15q11.2 del as being a specrum disorder, or at least a contributor to a spectrum of disorders. This, in my mind at least, explains why one person may be unaffected whilst others may be severly effected and everything else inbetween. For example I was dianosed with the deletion and despite some learning issues, physical dismorphia, and mental health issues still managed to develop into an independant adult who put himself through university. My daughter on the other hand has a plethora of diagnosed conditions including autism., and as a result struggles with daily tasks and daily living.

You may be reading this looking for a magic answer as to how to deal with things, or improve things for your child or a loved one. The truth however, is I don't have the answer and nobody else does either, as I am in no doubt you have reached the same conclusion as myself - there are no experts in this. Matter of fact, we are the closest thing to experts if truth be told.

What I would say though is the same thing that I would tell my students when facing a complex problem or situation (I'm a math teacher), which is don't even try to tackle the whole problem, don't waste energy trying to understand the whole thing. Pick it apart and focus on one much smaller element at a time. Eventually you will be a little wiser than you were at the begining. I also tell them that problems are only solvable if you are armed with enough information from the outset. The issue here is we are clearly not armed with enough information, and niether are those that we turn to for help.

For me the three most significant elements to approach are autism, anxiety, and sensory processing. This triad proves to trigger the biggest issues, and I think the anxiety and sensory processing issues are all part of the autism.

So that said I am going to be posting a little more regularly about what I have learned about autism, what support is available, what are the best websites to turn to when in need etc... So stay tuned visit often, feel free to drop me an email from time to time if you have any advice for me or anyone else.

Kind regards

Darren.

Have A Plan...

It has been quite some time since my last update due to a variety of not very interesting and unrelated reasons. However a recent experience has compelled me to take tot he keyboard once more.

 

having taken my car to the garage for some work and a look over, i was informed that my ailing 16 year old Toyota Corolla (lovingly named Bozo) is not likely to be passing its MOT any time soon without an obscene amount of money being spent on it. So the search began for a replacement. The very notion of loosing Bozo and replacing him with another was quite the ordeal for my daughter and I knew that this whole experience was going to be, well shall I say problematic at best.

 

I took the decision to shop outside the area in order to avoid the situation of her seeing Bozo being driven around the local community (because i needed to part exchange the car in order to secure finance this was a likely scenario). She just would not get why someone else was sitting in her car, in her seat, when she was not allowed to.

 

I was aware fo a garage some twenty.  Miles drive from home and denied to pop in to have a look around. I test drove two cars and decided on one of them. My choice was not only because it was my preferance but also because it was a Renault. we have had a number o Renault cars in the past and (a) they have never let us down and (b) they are familiar to mug daughter.

 

The next thing to do before making a purchase was to get the steal of approval from the kids, more so my daughter who is SEND and has many issues including not only the deletion but also autism. Having had a chat with the chap at the garage (Neil) I discovered that he is an uncle of an autistic child and had a solid understanding of the needs that my daughter may have. He suggested that I call just ahead of time and he would pull the car out into plain view and leave it unlocked and the keys in it such that we could straight from our car into the new one without the need to exasperate her anxieties by engaging in conversation. We did just that and every knob, button and lever was summarily tested, and every seat was sat in. Having recieved the seal of approval from both children, the purchase was agreed.

 

i further explained that whilst I was part exchanging Bozo , I would not be able to deliver Bozo for a few days after picking up thhe new car in order to enable my daughter to thoroughly check and investigate to her satisfaction that the car was devoid of any of her belongings and toys etc. This was greeted with understanding and acceptance. Not only were they gracious enough to accommodate this exception to the rule, but they also made sure that I did not have to pay for a costly taxi home by driving the twenty miles back.

 

along the way i chatted with the mechanic who drove me who informed me that he has four children and two of which also have autism. We spoke at length about some of the difficulties and joys that can arise from parenting autistic children along the journey and parted with a mutual respect.

 

Whilst each aspect of the purchase was planned and accounted for I can not take credit for the smoothness with which it was executed. The mother of my children was a massive help and support, and made many suggestions too. The staff at the garage were very accommodating and understanding too. The garage can be found in Kirkburn, North Yorkshire. So if you are in the market for a replacement vehicle I throroughly recommend them. You can view their current stock at...

 

www.kirkburncars.co.uk

What is autism? Why is it relevant to the deletion?

According to the National Autistic society there are around 700,000 autistic people in the Uk, or 1.1% of the population. To put that into context the population for the whole of North Yorkshire, according to www.countrydigest.com, was reported to be 602, 277! So it's not an insignificant number of people and perhaps not as rare as you might have thought when you first began reading this post.

 

But what exactly is autism? What does it mean? What does it involve? What is the cause? Sadly this post will not be able to answer all of these questions, it needs to be spread out over a number of posts. Point of fact, I am no expert either and so will rely upon the facts and figures from research from those that are experts. So, I hear you ask what’s this got to do with the 15Q11.2 deletion? Well, research suggests (Dr Butler) that there is a relationship between the deletion and autism, in that the study Dr Butler conducted involving 200 participants with the deletion revealed a comorbidity of autism and the deletion of around 30%.

 

So this post may well be of some relevance to you now or at some point in the future. It could be that you or your child may have autism diagnosed or undiagnosed, or perhaps show some autistic traits and behaviours that you have been unable to understand or reconcile. Whilst autism is a very complex condition it appears that there are some shared aspects of autism that has enabled a definition to be scribed by the National Autistic Society, which reads; “... Autism is a lifelong disability which affects how people communicate and interact with the world....”

 

From my own reading and experiences, please remember that I am no expert, someone with autism may typically struggle with social situations as they can struggle to interpret social cues, and can take things as very litteral or set in stone. As I read this I am reminded of a former colleague who delivered some autism awareness training at the school I was teaching in. He recounted the occasion he heard a teacher use the phrase;"... it's raining cats and dogs..." (a typical English phrase in these parts). The young autistic person rushed outside to look at the sky with disbelief, and returned very disappointed. 

 

 There are those that have other related issues, or quirks (depends on your perspective, one of which is around sensory processing. The senses for on autistic person can be heightened, dulled, or a combination of both. This can also fluctuate at any given moment is time too, and often with no explicable reason. I spoke with one autistic boy one day and he described the corridors as being a sensory nightmare. They are narrow, very busy, loud, smelly (he was referring to deodorant, body spray, perfume etc), the lighting gave him headaches that were agonising. Well actually he described it as he felt hot knives jabbing through his skull and into his brain and are he wanted to do was scream aloud. Now, I don’t think I’m really aloud to name the school, which is a shame because it is an excellent school and made special provisions for the autistic community within its walls. For example, being allowed to leave early before corridors filled up, providing ear defenders to those who benefited from them. Making staff aware that most autistic students need to be sat away from the board, not near things like speakers, projectors, or radiators (all of which play havoc with sensory processing), educating all staff to help be as helpful, supportive and knowledgable as possible etc... My point is this, many (not all) autistic people have a very real day to day struggle to perform the simplest of tasks such as walking into a shop, using public transport, public toilets etc.... In short autism is a condition that often causes problems with processing what is going on in the world around them, and struggling to find a way to fit into that world. This is of course a VERY simplistic explanation from a non specialist.

 

Clarifying what 1511.2 deletion actually is...

15Q11.2 bp1 to bp2 is a chromosome abnormality and whilst it is a rare condition it is said to be one of the more common of the genetic abnormalities. This may then be due to the fact that 85% of an diagnosis are from unaffected parents, according to evolvegene.com. So as the family tree grows so will the prevalence of the genetic abnormality. This particular deletion is described as;"a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11. 2) is missing (deleted)..." by rare diseases.info. nih.gov.

 

One unqualified opinion expressed in various posts on support groups proferr the theory that 15Q11.2 deletion is spectrum like in nature, or as I picture it in my mind an umbrella from which various other issues or conditions are suspended.

 

It would appear that medical professionals are at a loss when it Comes to explaining why some of us with this deletion can appear unaffected whilst others are profoundly affected, hence the unqualified theory of it being a spectrum. Where one child may have autism and other complicating factors the sibling may have no effects at all. Furthermore it would appear that medical professionals lack (at the moment) the ability to predict if a parent would birth a child with the deletion (although I am lead to believe amnio tests can now be performed  feotus). Much less predict the effect this will have on a person. However, studies involving a sample size of 200 people diagnosed with the deletion (Butler M, and Cox G - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346944/) reveal the following data.

 

Developmental delays.         73%

Speech delays                        67%

Dysmorphic ears                   46%

Palatal anomalies                  46%

Writing difficulties                  60%

Reading difficulties                57%

Memory problems                 60%

Verbal IQ scores below 75.  50%

Behaviour problems              55%

Abnormal Brain Imaging       43%

Epilepsy                                   26%

Autism                                     27%

ADHD                                       35%

Schizophrenia                         20%

Motor delay                             42%

 

Currently those of us with the deletion could potentially suffer all of these symptoms, some of them or none of them, with no satisfactory answer as to why. What further complicates things here is that each of the issues/conditions listed above can be ‘suffered” in varying degrees. For example autism is itself a complex spectrum of disorders and each of those have mild to severe effects of their own, and so we start to see layers of spectrums almost like a rainbow, which only serve to make things even more complex to say the least.

CUES - Coping with Unexpected Everyday Situations.

Coping with Uncertainty in Everyday Situations (CUES) focused on the development of an intervention package to address anxiety relating to uncertainty experienced by autistic children. For children and young people with autism spectrum disorder (ASD), anxiety can be a significant problem. Some advances have been made recently in the development of interventions to tackle anxiety in ASD but these interventions are often simply practical adaptations of programmes designed for children without ASD that have been altered to make them more accessible, rather than based on theoretically driven frameworks of why children with ASD might be more vulnerable to anxiety. Over the past few years we have developed an evidence base for the importance of a thinking style which involves ‘intolerance of uncertainty’ to the onset and continuation of anxiety in children with ASD. Based on this theory, with the funding from the Children’s Foundation, we have developed an intervention package that focuses on addressing intolerance of uncertainty in children with ASD (Coping with Uncertainty in Everyday Situations CUES ©). Our study involved the development of a parent-based programme of intervention based on CBT principles, focusing specifically on intolerance of uncertainty for young people with ASD experiencing anxiety. The intervention involves parents attending eight, weekly two hour sessions alongside other parents and provides parents with strategies and tools to assist their child help to develop a more flexible approach to uncertainty and therefore reduce IU related anxiety. Our study has enabled us to develop and provide preliminary evaluation of the acceptability of our novel intervention for parents of children with ASD.

Diagnosis

So it’s been a ten year battle to confirm what we already knew about my daughter. Ten years ago (more or less) two concerned parents took their daughter to a doctors surgery and discussed her irrational and destructive behaviour and asked the question “could autism be at play here?” We, like so many others (particularly parents of girls) were summarily dismissed. Over the ten years we have persisted with the notion that something just was not right here and then in 2016 the diagnosis of 15q11.2 deletion was given, but we were told that this still did not explain her behaviours and presentations. Well I can not yet go into too many details here due to ongoing legal proceedings, but in more recent weeks a diagnosis for autism was presented alongside learning disabilities, anxiety and possible CDD.

 

whilst I finally feel vindicated and vilified in the recognition that we were correct and have always been correct, I take no comfort in the diagnosis because my daughter is still the same person that she was before the whole process began, and whilst there are days I want to pull my hair out I love her just as much as always.

 

I write with so much restraint and frustration today because there is so much I want to say here but feel that I am unable to just yet. Even when proceedings have concluded I am u sure about just how much I am allowed to share through this forum in relation to the legalities of our position and so I tread lightly.

 

I saw a video, or vlog if you prefer, today that made me smile and feel relieved at the same time this morning and I attach the link below. It did reinforce the message that we are not alone in this journey and that there are some, a very small elite group, that share the same journe6 and tread the same path. So it is with that in mind that I attach a link to the video below (I hope).

 

Warmest Regards

Darren

Stronger Together

You are not alone....

Shared experiences can sometimes take the edge off... Swim on over to Fathering Autism, and Merediths channel too and tell them FifteenQ sent you...

Merchandise has arrived....

As we quickly approach the 4000 hits mark I thought it may be a good idea, or not, to try and build the websites online presence in the hopes of reaching more people affected in one way or another by the deletion. One of the biggest changes I can make in order to help bring about a positive ch be is to have a .com or .co.uk domain name. So I order to help me do that I have decided to launch some branded merchandise which you can find over on tee springs by following the link below.

 

 

buy your FIFTEEN Q merchandise here.

 

 

Many thanks

 

Darren

Stronger Together

News update...

Just recently I have become a full time carer for my daughter, being a single parent this has been (and continues to be) a difficult transition, which is why there has been very little in terms of updates.

 

However I do have a little news for you. My sister has recently tested positive for the 15Q11.2 Micro deletion. This means that there are now three of us in the same family with the deletion. I do not know what relevance this has at all, but it seems odd that there are so many with this very rare genetic condition.

 

Secondly, I have recently started a new youtube channel. Now, to be fair, I am not a professional videographer or youtuber (I couldn't even be dewcribed as skilled and even less so in terms of bein photogenic). I did this because I think I might find it helpful to have an outlet (now I am a full time carer I have little time or opportunity for conversation with others), but more importantly it is another social media platform that can be used to try and bring about an awareness of this deletion and to share information amongst this very small, yet growing community.

 

So...here it is . Perhaps you will be the first to view, like, or subscribe. I'd appreciate your comments and views either which way.

 

https://www.youtube.com/channel/UCtrPvuGCZC2X_uQXIQ1wrvg?view_as=subscriber

 

Warmest Regards,

 

Darren

Stronger Together.

 

 

Magnesium imbalances ?

So... it seems I have taken an interest in magnesium, its role in the human body and more specifically the impact upon the human body when there is an imbalance of sorts. Why? Well, it has been well documented that those with 15q11.2 BP1 – BP2 microdeletion, or Burnside-Butler Syndrome as it is more informally known as, have at least four missing genes (six in my case) which include but are not limited to NIPA1 and NIPA2. These two genes (as I have already mentioned in a previous posting) appear to play a significant role in the processing, absorption, and transportation of magnesium in the human body.

Magnesium is a common element and mostly fond in the bones, but a smaller amount can be found in the bloodstream. It is responsible for around 300 reactions in the human body and so is an extremely important element.

Hypermagnesemia is the term used to describe the presence of too much magnesium. Hypomagnesemia is the term used to describe low levels of magnesium. It is the latter that is said to be the more common of the two conditions.

Because of the significant importance of magnesium on the human ecosystem it is easy to appreciate that an imbalance could cause a range of different issues related to health. These issues can range from minor to life changing as well as both physical and psychological or mental.

According to healthline.com the symptoms may include;

Numbness,

 Tingling,

 Muscle Cramps,

 Seizures,

 Muscle Spasticity,

 Personality Changes,

 Abnormal Heart Rhythms.”

 

According to medicalnewstoday.com a study published in the journal “Neurology” concluded that people with a magnesium imbalance have a% higher chance of suffering from dementia later on in life; “High or low magnesium raises the risk by a third

 

Zhi-Peng Xu et al, states in a paper entitled; “Magnesium Protects Cognitive Functions and Synaptic Plasticity..”.

 

Given the links between magnesium and cognitive function as highlighted by Zhi-Peng Xu et al, it would appear to be a reasonable assumption that magnesium may well be a factor in the learning process in young people today, (although I have not yet found research to explicitly confirm this as yet).

 

The findings of Zhi-Peng Xu are further substantiated by Sciencedaily.com when they state that; “New research finds that an increase in brain magnesium improves learning and memory…”.

 

So on the face of it the message appears clear regardless of the source of research. Magnesium imbalance can affect cognitive functioning and later in life it can be a factor in the increased possibility of suffering the effects of Alzheimer’s or Dementia.

 

Since Burnside-Butler Syndrome, or 15q11.2 BP1-BP2 microdeletion, involves the deletion (or absence) of the NIPA1 and NIPA2 genes and given that these are responsible for the processing, and transportation of magnesium (or at least that’s my understanding) it raises a question or two;

 

(a)   Is it the NIPA1 and NIPA2 that ultimately cause a learning disability?

(b)   Could those with the deletion have a better chance of developing and (or) improving synaptic pathways if magnesium levels were more closely monitored and any imbalances addressed?

(c)   Is there a way to improve absorption, processing, transportation of magnesium in the absence of NIPA1 and NIPA2 genes through a natural, healthy, balanced diet? Or perhaps there are additional supplements available that are natural, organic and healthy?

 

I have no answers to these questions – but perhaps you do? If so why not get in touch and let me know.

 

Warmest Regards,

 

 

Darren.

STRONGER TOGETHER

No words can express my emotions when I saw this

I know that Downs Syndrome is not the same condition at all but it is a chromosome disorder all the same and when I saw this video clip it bought me to tears. I love my daughter beyond words, beyond explenation and this summed it up for me, so watch and enjoy...

I'm a paragraph. Click here to add your own text and edit me. I'm a great place for you to tell your story and let your visitors know a little more about you.

Powerful beyond words....

Education.... Education... Education

As a teacher it saddens me that so many professional educators are so very blinkered to special needs that they do not understand. Many old school educators can be of the mind ‘I have never heard of it.... it’s just an excuse ...... load of crap..... not in my classroom .... if you can’t understand simple instructions then you shouldn’t be in my room.... I have to cater to the majority, it’s not my fault you don’t fit in...’ unfortunatley I have hard all of these phrases and then some...

Despite my dismay I do feel the need to balance this, not that I am forgiving the attitude deacribed by the comments above. Teaching staff are NOT trained in all special needs situations no matter what you have read or what you think. We are however trained to listen, accept, adapt, adjust and differentiate both work for students and expected outcomes for that work.

It is deeply unfortunate for us as parents that some staff take a stance of disbeliefe or are quick to point the finger of shame before making the effort of trying to understand the complexities of our young children in need. The education system is outmoded and does not consider the modern day student, much less the modern day student with special needs. It is not a one size fits all system and needs fixing. Most teaching staff will acknowledge this but feel powerless to make the required changes. This is part of the reason that there are so many staff leaving the profession and recruitment is low. Hence we can anticipate a teacher crisis situation in the future (ps: the government are challenging this situation by employing non qualified staff, hence more ignorance to special needs etc).

It is the words written by a blogger (https://quirkyandme.wordpress.com/) that inspired this entry where she describes an emotional melt down after school dealt with a behaviour situation in school of her young child, and how it made me feel as both a parent and a teacher. I would love the opportunity to deliver training presentations to teaching staff in schools and educate them with regards the deletion, maybe one day in the future?

 

I will however leave you with this thought on the subject... no teacher ever goes to school wanting to do a bad job, no school wants to fail your child, the people above put such incredible pressures on schools and teachers that the system reaches a point of failure at some point. Education has become a pawn of politicians.

 

Warmest regards

Darren

STRONGER TOGETHER.

“Trying” to understand The 15q11.2 Microdeletion BP1-BP2: A Review

So today I stumbled across a report composed by Devin M Cox and Merlin G Butler which is detailed and linked below...

The 15Q11.2 Microdeletion: A Review

This I found to be quite a tough read and struggled to form an understanding of some elements of it, so I felt that this would be a great platform, and opportunity to lay out my understanding of this and seek clarity on some of the points discussed.

Ok, here goes nothing... The report begins by laying out the primary components of the disorder and state that the carrier will be within the “... susceptibility region for neurological dysfunction with general developmental and motor delay with speech problems...”. Whilst they go on to stipulate that there is no clear dysmorphc phenotype (which I read to understand as no specific physical presentation) the following dysmorphic features have been noted in conjunction with the deletion........

*Broad forehead;

*Slender Fingers;

*Narrow face;

*Small face;

*Hypertelarism (increased distance between organs or bodily parts - such as eyes);

*hypotelarism (decreased distance between organs or bodily parts - such as eyes);

*Plectus Exvactu (No not a Harry Potter spell as I fist suspected but a deformity to the sternum and rib cage);

*Plagiocephaly (also known as flat head syndrome);

*Dysmorphic Nose;

*Dysmorphic Teeth;

*Contractures (the shortening and hardening of muscle).

So quite a list of physical features that have been seen in people with the deletion BUT I imagine (not stated in the literature) not necessarily unique to this deletion, meaning that just because someone might present with any combination of the features it doesn’t mean that they have the deletion and vice versa.

The literature also goes on to state that a FSIQ (Full Scale Inteligence Quotient) score or assessment of 75 or less is deemed to be “special education” which may (possibly) result in the following features in the carrier (although they suggest that more study is required to ensure that these are definitively associated findings);

*Writting difficulties (60% of those in the study);

*Reading difficulties (57% of those in the study);

*Memory problems (60% of those. In the studies);

*Low verbal IQ of below or equal to a score of 75 (50% of those in the studies)

Performance IQ however stood out to me as quite high as they indicate that only 33% of the study group scored 75 or below. Indicating that actually 67% scored above 75.

 They go on to list behavioural and psychiatric problems as follows;

*ASD (Autistic Spectrum disorder) (27% of the study group);

*Schizophrenia or paranoid psychosis (20% of the study group);

*(ADD) Attention Deficit Disorder sometimes know as ADHD (35% of the study group);

*Obsessive Compulsive Disorder - or OCD (26% of the study group);

* Self injurious (26% of the study group);

*Oppositional Defiance Disorder - Is this the same as PDA? (24% of the study group);

*An unusually happy expression (12% of the group);

*Anxiety (6% of the study group). 

They go on to state that there is a significant Association between those with this deletion and schizophrenia (0.64%) according to the results of a separate study. In addition to this they move on to state that they have .... “found a small risk regarding this deletion and autism.

So at this point I am struggling to understand how they have at one point stated that 27% of a study group has an Autistic Spectrum Disorder and that this is a “small risk” yet 0.64% of another study group were found to have schizophrenia and that is described as “significant”. I am very much strugggling to get my head around that one.

 Reading on through this piece of literature Cox and Butler go on to talk about other related medical concerns associated with the 15q11.2 microdeletion and list them as;

*Abnormal brain imaging (43% of the study group);

*Siezures or epilepsy (27% of the study group);

*Ataxia or balance problems (28% of the study group);

*Congenital heart defect (9% of the study group);

*Genital abnormalities (7% of the study group);

*Recurrant infections (7% of the study group);

*Cataracts (4% of the study group);

*Hearing loss or impairment (4% of the study group);

*Tracheoesophageal Fistula - an abnormal connection between esophagus and the trache (2% of the study group);

*Omphalocele - an intestinal birth defect (2% of the study group).

Again what I read into this is that just because you have the deletion it does not necessarily follow that you will have these medical conditions at all, and likewise just because you have one, or a combination, of these medical conditions it does not mean to say that you have the deletion.

They conclude with stating that “Clinically neurological dysfunction, developmental and language delay are the most commonly associated findings, followed by motor delay, ADD/ADHD, and autism spectrum disorder showing incomplete penetrance and variable expressivity...The 15q11.2 BP1-BP2 microdeletion Syndrome has a reported de novo frequency between 5% - 22%, 51% having inherited the microdeletion from an apparently unaffected parent and 35% having inherited the deletion from an affected parent.

So I am reading this as if a person has the deletion that there is a 51% chance that they themselves inherited the deletion from a parent before them and that there is a probability that it has been handed down through a number of generations, and that this pattern of continuing to pass it down stands at 51%.

So this in itself would be a prompt for me to point out to siblings and cousins that should there children be demonstrating issues with learning, behaviour, and or other medical conditions already mentioned in this report - they may well be advised to seek a micro array test to rule out the 15q11.2 bp1-bp2 Syndrome.

Type 1 or Type 2 ? - Now with new and improved amendments!

So apparantley there are two types of deletion, who knew? Not me that’s for sure but yes there ia a type 1 and type 2 deletion (trust the medical profession to conjur up such descriptive yet bland labels). Needless to say I was curious to have an understanding as to which myself and my daughter is and so did a little light reading and research to find out, or at least try. 

According to www.mayomedicallaboritories.com the type of deletion is determined by the size of the deletion. They go on to describe this very briefly as; “....Type 1 deletions are larger deletions, spanning breakpoint (BP)1 and distal BP3 breakpoints, while type II deletions are smaller (approximately 500kb), spanning BP2 and BP3...”.

So what’s the point? Is this just useless information or is there a need for the parent to know this? Well if I am honest it isn’t all that helpful for me as it turns out. I do however now understand that both myself and my daughter are type one deletions, or at least I think we are as I’m still trying to make some sense of the lab report (more about that one later though). I have ascertained however from the same mentioned web site, that those with the greater, or larger, deletion are much more likely to be at risk of PWS (Prader Willi Sundrome) or AS (Angelman Syndrome). As this is something that is not applicable in my case or my daughters case (according to the paediatrician PWS/AS can be ruled out) I didn’t feel a personal need to research those elements at this time. However if you need information on these two syndromes I am happy to help in anyway I can, just get in touch and I will help with your research.

So at the end of this, albeit short, piece of research I am left with more questions than I started out with. Such as what is a breakpoint anyway? Is this something only seen in those with a chromosome disorder or is it a part of everyone’s genetic make up? Mayo medical laboratories have stated that autistic features are linked to type 1 deletions. Surely autistic features are also seen in type two deletions? Or are they? Certainly I know I have some autistic tendencies (the need to see a task completed has often lead me to continue working on it until the early hours of the morning 2am and 3am work days have not been uncommon for me). I see this reflected in my daughters inability to disengage on an evening too and having similar sleep patterns as myself in the past.

So today as I type this blog, in McDonald’s accompanied as always by the dregs of a cold coffee so that I have the luxury of people watching those folks with seemingly ordinary lives, I ponder upon and reflect on how the deletion has effected my life, my life decisions, and more importantly how best to support my daughter and address her needs, professionals in her life seem to have little understanding  and that’s what scares most right now!

 

AMENDMENT...

I will begin this by reinforcing the disclaimer that I am by no means a medical profession. Having posted this blog to a couple of forums I had a reader, (justifiably), correct me on a couple of things. I took that corrections / advice on board and went back to re-read the material, and it seems that I had misunderstood, or misread, the material on www.mayomedicallaboritories.com. So I am going to attempt to correct that here....

It would appear that whilst the original statement I made regarding there being a type one and a type two deletion are still correct and it is also correct that they are associated with the 15th chromosome. However it is NOT correct that type one and two are found in the 15q11.2 deletion in the way I had described. Type 1deletions occur between break point 1 and break point 3 as already stated BUT break point 3 is not within the 15q11.2 range, moreover it is found in the 15q13 range. Therefore to have a type 2 deletion you would have to have a 15q13 deletion and not 15q11.2 deletion (hope that makes sense - it took quite a while for me to get my head around that one too). Furthermore, in order to be in the risk locus for PWS and (or) AS you would need to have additional deleted genetic material other than 15q11.2 on its own. 

In short if you have the 15q11.2 deletion (alone) then you have a type one deletion and can not have the type two deletion.

As this is really a personal blog I have chosen to leave the original post as isso to speak as a reminder that it is so easy to read and misunderstand the information out there, and how important it is to share in order to get a clearer and fuller picture, as is the case for me today. I’d like to thank the reader that made a critical and important contribution and prompted this amendment and at the same time respect their rights to anonymity.

Warmest Regardes,

Darren

Stronger Together.

 

 

The devils in the detail..... so to speak....

Being a member of some Facebook forums and support groups, as many of you are, we are in a privileged position to be able to share help, advice and information. Over the last few days I have stumbled across a few snippets worthy of a share. Some of you may already be aware of them and for others it might be the first hand information as it was for me.

I think that it is fairly clear to us and indeed those around us that many of those with the 15q11.2 microdeletion can have issues around behaviour and how to regulate it at times. Those who know what I am talking about can probably relate to the tantrums (for many this is best described as melt downs) where their young one can become a physically aggressive whirlwind that can appear out of seemingly nowhere leaving a trail of destruction and emotional aftermath.

Whilst I can proffer no solutions regarding this I am beginning to develop an understanding of why this is, thanks largely to the Facebook forums and groups (thank god for social media). One member posted news of a report (yes it’s an old report but still relevant as far as I am aware) which named four of the genes deleted and or affected in my daughters deletion (TUBGCP5, CYFIP1, NIPA1, and NIPA2), the report goes on to say that these genes are responsible for behavioural problems seen in type 1 deletions (although, I do not really understand what determines the difference between a type 1 and a type 2 deletion). I must confess that I have so far, only read the pre-amble from the report but will read the full report once I have found the time to do so. In the interests of not mentioning names (I have already been requested not to by administrators of support groups) I would like to thank the forum member from the distant shores of Holland for sending me a copy of the full report.

https://www.ncbi.nlm.nih.gov/pubmed/19328872

Having not yet read the full report I have had some explanation from one Facebook forum (links can be found in resources to the forums I am referring too), who explained to me the significance of the NIPA1. This is one of the deleted or affected genes that is responsible for (amongst other things I think) the processing and transportation of magnesium. When this gene is affected or deleted magnesium levels can drop and affect a whole range of emotional and behavioural levels in the body.  Such low levels is known as hypomagnesemia (according to healthline.com) and can cause “muscle twitches and cramps .... mental disorders.... osteoporosis....fatigue and muscle weakness.....high blood pressure.... irregular heartbeats”, healthine.com also go on to say that asthma sufferers may also suffer magnesium deficiency and that those with extreme asthma are often prescribed asthma inhalers that contain magnesium sulphate to help relax and expand the airways.

I think it may be important to stress here that I am not a medical professional in anyway, in fact my medical training does not extend beyond that of my most recent first aid training, moreover I am an everyday bloke in the same position as many people reading this blog, however I feel I have common sense enough to understand that not everyone who has the microdeletion also suffer from hypomagnesemia and so I urge caution before rushing out to purchase and add magnesium supplements to your young ones diet, I feel advice from your GP would be wise.

Having said that, it has been suggested on the forums that whilst there are foods naturally high in magnesium those that have issues with the NIPA1 gene struggle to process and transport the magnesium and so they still appear to be low on magnesium levels regardless of adjustments made to their diet. No satisfactory conclusion was reached in the forum with regards the accuracy of the claim nor how to address the issue. However it does provide food for thought (pardon the pun) with regardes the mood and behaviour of our young ones one day when cpmpared with the very next day.

For me personally (I also have the deletion and describe myself as mildly affected) it does explain those midnight cramps in the calf’s and thighs that have traditionally left me in agony, and possibly the leaden feeling I have been feeling in my legs just recently, as well as my depression and stress. So on a personal level I will be looking at increasing my magnesium levels through diet at first and then possibly supplements. Watch this space for more information to see how this progresses.

Yours in times of need,

Darren

Stronger Together.

 

(disclaimer - I am NOT a trained medical professional in any sense of the word).

Changes, and apologies...

I would like to take this time to apologise to the admin teams on the Facebook forums that have been in touch asking me to remove some names and comments from the site. Whilst I did seek individual permission to use any information and or comments from the respective authors this seems to have still left some room for concern among the administrators of the forums. I can understand, and agree with, those concerns and so have removed them as requested.

best wishes and warmest regards,

Darren

Stronger Together.

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