FAQ Newly Diagnosed

Our FAQ section has been written by the charity and reviewed with the help  of other DIPG parents.

The information provided is general advice to try and improve the understanding for newly diagnosed families who find themselves suddenly in a new and very frightening world following a DIPG diagnosis. 

In no way does the information here constitute medical advice and the charity is not liable should it be treated as such. It is purely how others in hindsight have felt the situation immediately following may have been more clearly understood, had the relevant questions been available to ask treating clinicians.

You are entitled to research and to ask questions, inevitably everyone does and it can be incredibly difficult to know what is valid and which way to turn.

Do keep an open mind BUT be very careful of a wide range of 'anecdotal evidence' that you will find and review any approaches thoroughly with your oncologist.

1 - It's us...what happens now?

Things should begin to happen very quickly and it will feel very surreal. Suddenly normal 'life' is turned upside down and becomes filled with appointments and introductions to many professionals previously unheard of. New terminology will become your vocabulary and at first the 'fear' is overwhelming....

The first steps will usually include appointments with your appointed oncologist and radiologist. These are very difficult meetings to have as you will already know , if you find yourself on this page!

For radiotherapy to commence and CT planning a 'mask' must be moulded to hold your child's head in position, most young children will have a 'port' fitted and complete all of their moulding, planning procedures and radiotherapy under a general anesthetic. This can be very worrying initially, if you are lucky it will become part of routine over the next weeks ...most centres should have 'play specialists' to help explain what is going to happen..

YOU know your child the best don't be afraid to ask for additional support to get them through certain procedures.

Steroids which need to be taken in conjunction with radiation to reduce inflammation, can greatly change the mood of your child. They can become uncharacteristically aggressive and difficult to manage at times it can be almost impossible to recognise them, or to know if it is disease, medication or fear...others can sail through much more easily but be prepared for big changes in appearance and an emotional bumpy ride...

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2 - WHY WHY..Why has this happened?

Unfortunately at the moment no one knows why? or entirely how ? DIPG occurs. It rarely affects adults and is thought to be a process within the developing brain. Hence the peak age of incidence with an onset mainly in children between 5 - 9 years of age.

Research in this field is active, like most cancers DIPG occurs when something goes wrong with the process of cell reproduction, and a 'mutation' occurs.

Scientists are now learning much more about the genetic mutations that occur or are present in a majority of cases of DIPG. This has been found due to the selfless donations of tissue from families either at autopsy or during biopsy (not available as standard procedure in the UK). We need to do much more to understand how these mutations connect fully as they are very complex and to aid knowledge of the available drugs already approved which may be 're-purposed' to treat DIPG effectively.

There is absolutely no evidence that DIPG is a resultant of exposure to any environmental or lifestyle factors or inherited and hereditary factors.

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3 - Is there a risk to my other children?

Absolutely not.

There are numerous cases of DIPG affecting twins and even triplets where only one child is affected. The risk for the others is as rare as for any individual child to manifest DIPG.

There is also no evidence that specific inherited genetic variations contribute to DIPG either... quite simply because sadly most patients will succumb to their disease, it cannot be 'passed on'

4 - How long has it been there?

Unfortunately DIPG is highly malignant, so very aggressive. DIPG can present in a very short space of time which is why it is important to try and gain control of the local area as quickly as possible...either through radiotherapy or other means 

You will already know the devastating symptoms being exhibited by your child, because of it's location in the brain stem, DIPGs cause pressure on the cranial nerves that originate in the pons as they grow. As the tumour grows the symptoms get worse and this can happen very quickly

5 - Do we have to do radiotherapy?

Standard NHS treatment consists of  'palliative' radiotherapy ( usually 54 Gray ) which may be administered over differing lengths of time. It is important to begin this therapy as soon as possible, around 70% of patients are known to get symptom relief and tumour shrinkage BUT most importantly you will need to consider this in the context of prospective trials ... prior radiation may render a patient 'ineligible' and unable to take part in some studies.

Some trials for newly diagnosed patients, may have drugs administered adjuvently with radiotherapy as it is thought the effects of the agents are increased. If there is a particular trial you are interested in (elsewhere in Europe or the US for example) please check the enrollment information very carefully so as not to be excluded.

6 - Should I ask about biopsy?

Most diagnoses of DIPG can and are made from MRI imaging and their anatomical location.

Because of the risks of the procedure, surgical biopsy has typically only been performed when it has not been possible to confirm a diagnosis based on imaging (atypical). In the UK and worldwide however more doctors more generally are now recommending or will offer a biopsy (The UK does not currently have a biopsy led clinical trial but 'targeted' agents may be offered off lable)

It is in itself a dilemma -  and important if an available option for parents to weigh up and question any risks. Some parents feel that biopsy can cause disease to spread if only one cell is dropped along the tract of the tissue sampling channel...however DIPG disseminates throughout the brain and research in any case considers it 'full brain disease' it is also becoming crucial for more individualised treatment to know which mutations are 'present targets'

Neurological surgical techniques are now greatly improved and recent research has shown that advanced stereotactic methods greatly reduce the risks of surgical biopsy, which can sometimes yield useful diagnostic information and influence treatment decisions.

Occasionally when biopsy for a presumed DIPG is performed, an alternative histology may be discovered, which can impact your childs treatment plan and change a prognosis very significantly. Of course this should only be performed by the relevant specialists.

There are increasing numbers of clinical trials which may include biopsy - check if it's important to you , that if your pursue this route that results will be made available and select based on who is looking for the most relevant mutations through the sequencing panel, and how quickly they'll process the biopsy. There may be associated 'modelling' of the cell line sample and drug screens if part of a trial. Biopsy options will only be available in larger institutions with neurosurgeons who have repeatedly completed DIPG biopsies

FULL characterisation of these tumours is extremely important . It is absolutely pointless treating a child with a drug when the mutational  target is  'NOT present' in their tumour. Only full sequencing can provide a broad analysis and individual profile. It may also be that currently we do NOT have drugs that suit and 'target' every present mutation but studies are beginning to show the most promising prevalent targets and pathways for inhibition.

Scarcity of tumour tissue itself has hampered treatment development for children, in the past DIPG was treated with agents that have showed some efficacy in adult disease. However children are not 'little adults' and require specific drugs for the specific biology of their disease.

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7 - How will DIPG progress?

Depending on the individual profile of the disease some experience more severe symptoms than others.

Some children can lead a reasonably full life and then exhibit a very rapid decline...for others it happens more gradually. Research has indicated some subsets of disease to be more aggressive but generally no two journeys will be the same to the final outcome.

DO NOT READ further until ready...

Sadly in the 'progression' stages of DIPG disease for most children everything will become a struggle.

It is difficult to detail here and indeed predict to prospective parents the severity but all normal function of your child will become affected.

I'm sorry to say that children will become completely paralysed, after an initial phase of perhaps one-side weakness, and unable to speak or swallow. The inability to eat may involve the placing of an NG ( naso-gastric) tube for feed to be administered...unfortunately there is the possibility of aspirating food into the lungs with a failing swallowing mechanism. As the body eventually gets 'shut down' the stomach may stop absorbing any feed. They can also lose their sight, hearing and are unable to control their bowels. They become unable to hold up their head unsupported and with swallowing affected they will not be able to control the secretions to their lungs. You may be taught techniques used on cystic fibrosis patients to loosen these and suction their throat. Children may experience seizures in late stages which require drug intervention, blood pressure and heart rate can be affected. Children may appear to become more sleepy or indeed  completely asleep the whole time until they eventually pass away.

In many ways it can be like going back to 'baby like ' status, this is very distressing for parents to see their child this way and completely aware of their own decline. These children know exactly what they want to do and say and yet their bodies fail them in the cruelest way possible.

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8 - Can I ask for DIPG specialists?

DIPGs are relatively rare, and the diagnosis and treatment of DIPG is complex and involves multiple specialists. At the UK specialist centres you should have a dedicated pediatric neuro-oncologist, neurologist, neuroradiologist, and possibly even a neurosurgeon.

You can ask to be put in touch with any eminent researchers or clinicians worldwide. Do make sure if considering an approach under a certain doctor that you contact them directly, most will be very helpful. Discuss options fully and get your referral should you choose another pathway.

Check the full listing of clinical trials in the relevant section on the site tab 'Worldwide Clinical Trials

9 - Can we add to the research?

Yes...If you wish to donate tissue in the event of biopsy (or autopsy)  there are various registries, speak with your oncologist about supporting one of these.  

Some trials depend on biopsy for entry to assess certain markers, these samples are hugely valuable and if cell lines can be reproduced are used widely in other research studies. Most are held in the pediatric tissue bank in Newcastle where other researchers can request them for study.

DIPG experts participating in the International and European DIPG Registry are available to patients, families and their doctors for second opinions also and may be able to recommend other clinical trials for which patients may be eligible.

The UK representative for the DIPG Registry is :

Simon Bailey, MD
simon.bailey@newcastle.ac.uk

10- What trials are available?

It is challenging to conduct clinical trials (studies comparing different treatments in people) for DIPG because the disease is rare. In general, clinical trials produce more useful information when a large number of patients participate..

There are relatively few DIPG patients but still more trials are opened and needed to evaluate new approaches, especially options for those with progressive disease or in the event that a child may be ineligible for one process, they very rarely have any further options available, with strict criteria...we should not be reaching 'the end of the road' so early on.

There is currently NO National  preferred ongoing DIPG trial open on the NHS in the UK for DIPG (BIOMEDE is ongoing study for those enroled but closed to recruitment at the end of 2019)

Please see the full available trial listing in 'Worldwide Clinical Trials' in the DIPG site section.

It can be overwhelming considering 'next step' options but we are here to help with information from within the research community.

11 - What about experimental treatment?

Parents facing diagnosis of DIPG can only be provided with the overview of their own NHS ( in the UK) clinical care team administering the treatment available to them in that location.  They may not have the full guidance as to the available treatments being advocated and pioneered elsewhere throughout the world.

You may also not always have a clinician that is highly encouraging in pursuing other options?..they may be highly skeptical due to historical reasons and the lack of documented 'peer reviewed' process.

There are however many people , parents and some clinicians included who understand that conventional approaches to treatment are just not creating the clinical outcomes that we all wish to see.  It is now well established within research that a multi agent and multi pronged 'attack', will be required to fully manage or eliminate DIPG.

This may include, surgery for direct drug delivery, a priming of the tumour micro environment and immunotherapy approaches. If you are prepared to pay for private consultations you may want to engage outside help or seek out other experimental therapies in 'self pay' private settings.

Unfortunately new approaches in other locations really have not yet been studied in sufficient depth individually and in combination to make them available to every patient and currently will likely come at a huge cost expense to families . If you will be undertaking any of these options that may include overseas travel do make sure that on your return that you have a Consultant fully prepared to continue treating your child or provide any maintenance therapy and tests.

It can become blurred whose care they are actually under?

In instances where full cooperation is not received and information is not shared, it must be appreciated that it can become difficult for UK doctors to know how to proceed in treating a patient on return. In private settings however there will certainly be more approved drugs available for use in DIPG.

Available private and 'compassionate care'  treatments and procedures like CED (Convection Enhanced Delivery) or IA (Intra Arterial Therapy) are not yet covered by clinical trial...and indeed will not be without funding and bridging initially the pre-clinical gap. Some processes are more well documented than others with more robust 'data' available but ideally Abbie's Army would want to see all the research funding investment available to instigate all the pre-clinical testing necessary to provide the crucial protection of children enrolling in these more experimental studies. We have to know that any responses are not purely down to 'relaxed treatment conditions' and there is a strong rationale and that above all it is 'safe' and any research data 'outputs' are freely shared.

With the full approvals and framework of clinical trial in place a robust data set under control conditions means any therapy can be developed further with any successful outcomes adopted for the benefit of all patients, not only those that can fund raise and pay.

Get in touch regarding 'Experimental Treatment' if of interest and we may be able to connect you with other families.

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12 - Are there other parents I can speak to?

If you would like to talk (it's not for everyone) to others including those parents that may have already lost a child, then there are numerous groups on social media that may support. You’ll find numerous other families online and will have lots of parents willing to help at various stages. These can be helpful to decide on treatments options or gain advice on worrying symtoms. Abbie's Army can also connect you to experts and are dedicated to funding research and improving new treatments for all children. The many parent led charities you will discover are often the 'driving forces' in the DIPG community

13 - How far away are we from a cure?

Although there are currently no proven effective treatments or a cure at present, there is now more research into DIPG and  discoveries are being published that we hope will lead to treatments to manage the progression of the disease in future cases.

Our understanding of DIPG biology has improved greatly along with the mechanism of action with certain drugs ( i.e HDACi's) on known mutations (H3 K27M), which means we are also in a better position to assess the efficacy of potential drugs within the developing patient and sub-set patient cohorts in highly organised and structured clinical trials.

Scientists are also homing in on the origins of DIPG and it's micro-environmental dependancies, it's generally understood that combinations such as targeting the environment, the DIPG cell weaknesses themselves and immunotherapy together in the correct order and timing will be helpful.

There is every reason to be more hopeful.

14 - Can we donate tissue after death?

Towards the end of life you may want to consider giving your consent to donating your child's whole brain (and sometimes spine) which can give researchers a full picture of disease and be a comfort to know they 'go on' to advance the research field, and other children.

In the UK this is generally supported and coordinated through the CCLG tissue bank (Children's Cancer and Leukemia Group) although there are other UK labs such as the High Grade Glioma lab at the Institute of Cancer Research that regularly process samples. The family is fully entitled to choose any lab where they wish the sample to go.

Tissue donation does need to happen fairly quickly, but a families needs must come first, you will be able to change your decision at any time.

It may be important to consider if once consent is given, that you might want to discuss any findings afterwards with your Consultant (and possibly a researcher) and whether that will be an option that is available to you. Your oncologist should advise you accordingly.

Information on the CCLG Tissue Bank is on this link https://www.cclg.org.uk/tissue-bank