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Practical Issues FAQ

The easiest way is to just join a GP surgery. Every NHS number is unique and one person only gets one NHS number, and this will be linked through all health appointments in the future, no matter where or by whom you are seen by. For more information, please see the NHS website for more details:  http://www.nhs.uk/NHSEngland/thenhs/records/Pages/thenhsnumber.aspx

A referral needs to be done by either your GP or local hospital paediatrician. Before you get your buggy or wheelchair, an assessment needs to be done. This usually is done by a physiotherapist or an occupational therapist. This can be a slow process, so the sooner you ask for a referral the better, even if you think they may not be quite ready for one.

http://www.nhs.uk/Conditions/social-care-and-support-guide/Pages/mobility-equipment-wheelchairs-scooters.aspx  please scroll down on the link page, to ‘How to get a wheelchair.’

Most hospitals provide a transition process, where paediatric doctors meet in a joint clinic with adult doctors to transfer care. This process is best done when the transitioning process has started as early as possible, for the family to get to know the new doctor, whilst under the care of the paediatric doctor. However, if a hospital doesn’t provide this service, then your paediatric doctor will refer you to one of their adult consultant colleagues. More about this process can be found here: http://www.nhs.uk/conditions/social-care-and-support-guide/Pages/transition-planning-disabled-young-people.aspx 

There is no set answer here, but whenever your child needs to be seen. Some consultants do annual reviews. However, health can change quickly, i.e. seizures can increase. Medications then have to be switched and changed to figure out what works best for your child to improve their seizures. If you ever have a concern about your child, it is always best to speak to your local paediatrician or other link professional.

As many as you feel should be, and are able to be. Sometimes too many people getting involved can be a nightmare, but unfortunately with complex needs that sometimes has to be the case, i.e. nurses, doctors, physiotherapists, speech and language therapists, occupational therapists, etc. The most important piece of advice that I feel that I can give is that even though you may have other people across the country involved in your care, make sure you build up a good rapport with your local Paediatric, Neurology and community teams, as they will be the ones that essentially will be looking after all your child’s care.

Genetics and diagnosis FAQ

This may sound silly, but, do as many fun things as possible.  After a devastating diagnosis, the most important advice I can offer is to make lots of happy memories and sharing precious moments with all your children.  Get in touch with charities to help go away on holidays, etc. There are wonderful charities that even help with cleaning and cooking, and taking siblings away on holidays.  It will be a shock at first, and lots of things will need to be organised, such as suitable equipment, community assessments and visits to the doctors. You may not need certain things to start with, but the reality is, it will be much easier for you and your family if these are in place from the beginning I.e. your child may be able to walk fine without a buggy or wheelchair, but if there is a sudden deterioration in their walking, waiting for a buggy or wheelchair can take 8-12 weeks.

Once the diagnosis has been confirmed for your affected child, then you can start thinking about testing other family members. You and your family should be referred to a Clinical Geneticist for advice. Parents usually need to be tested to confirm the genetic diagnosis. The children are tested for the affected status and not for the carrier status. Testing for carrier status is only performed in the adults. Carrier testing of siblings and other children in the extended family is deferred until they are of the age to make the decision themselves.

More advice about antenatal screening can be found here: http://www.arc-uk.org/for-parents/links.

Genetic counselling is a service that provides information and advice to those with genetic conditions, such as Batten disease. Genetic counsellors can be accessed when your family is referred to the Clinical Genetics department. Once there is a confirmed diagnosis, as a family you may have other questions such as what to do if you want other children and for general pre-natal advice or pre-implantation for IVF. Genetic counsellors also can answer questions from other members of the family regarding genetic testing and how it affects them. http://www.nhs.uk/chq/Pages/2370.aspx

Health related issues for Batten disease FAQ

It isn’t necessarily normal, but it can happen to children with Batten disease. Girls are more likely to be affected, but boys can be too. We know that Batten disease is a neurological and metabolic problem and this could be reason alone, as when there are changes in our brain, our bodies can do things out of the ordinary. Please see this link for more details about puberty in general: http://www.nhs.uk/Conditions/Puberty/Pages/Complications.aspx

Absolutely, yes! There is no evidence to suggest otherwise. I am a huge advocate of keeping up to date with your child’s immunisations, so as not to put other children as risk, of potentially other harmful conditions. The consequences of getting another horrible illness on top of Batten disease, is not something any family would want to deal with. For more information about immunisations in general please visit: https://www.gov.uk/government/collections/immunisation

There are certain medications that we often use in hospitals to help with dystonia, different hospitals opt for slightly different medications, but they essentially do the same thing. It is important to also note that not every drug works for the same person, but some drugs you may have heard of in helping to treat dystonia are baclofen, trihexyphenidyl, diazepam and clonazepam are to name a few. There are also non medication options. Good positioning can be important as well as regular physiotherapy, occupational therapy and also hydrotherapy, theses have been proven to help relieve symptoms. Relaxation and stress management are also key in helping with spasms. More about dystonia can be seen here: http://www.nhs.uk/Conditions/Dystonia/Pages/Treatment.aspx

It can be common for children with CLN3 to be agitated. However, there may be another reason why they are agitated. It will be a case of using process of elimination to figure out that it isn’t something else first, i.e. pain. The mistake some people can make is just assuming that it is their “norm” and not trying to find out if there is something underlying the agitation. The mental wellbeing of those with CLN3 can include anxiety, restlessness and also depression. Sometimes if it is severe there are medications that can help which you will need to speak to your doctor about. However, without medication, making sure they have a fixed routine and keeping them busy with activities they enjoy, have been found to be helpful.

If your child is still able to eat orally, making sure they can get enough fibre in their diet is essential. If they are fed via a tube, likewise, fibre can be added to the feed. This is a discussion that should be had with the dietician though. If the constipation is severe and is actually causing quite a lot of distress, then medication is probably the better option. Movicol is a common medication that is used in children as well as lactulose. Movicol can be given regularly (the amount depends on your child’s needs). In some cases a suppository can be given, or in more extreme cases of constipation, an enema.  Constipation can be extremely uncomfortable, especially if your child is unable to communicate their discomfort, so ensuring that their bowels are opening regularly is vital.

Every child is very different, and just because they have Batten disease does not mean they need one. An oxygen saturation monitor is a medical device that should be interpreted by those who have been trained to use them. They may not alarm if your child is having a seizure and could also alarm even if your child is producing normal movement. Sometimes having a device like that in the home can produce more anxiety as you can start to read the monitor as opposed to your child. Don’t underestimate the power of a parent’s instinct! They can however be helpful in certain situations and I would not completely write them off. Speak to your local team and see if it is appropriate. There are other things that can be put in place to help detect a seizure. A couple of tips would be a baby monitor in the room, and also a bell on the end of their bed, if they have particularly vigorous movements during a seizure. Sometime charities provide seizures mat, but again, these are not always accurate in my experience.

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