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What Do I Do Now?

Medical and Scientific Advisory Board Members - Disclaimer 2018

The information contained in the ‘What Do I Do Now?’ section has not been provided or endorsed by any of the AADC Research Trust’s Medical and Scientific Advisory Members.

Emotions

When you first discover your child suffers with AADC Deficiency, some or all of the following emotions will be experienced:

 

IMMEDIATE

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  • Shock

  • Sorrow

  • Disbelief

  • Anger

  • Despair

  • Desperation

  • Powerlessness

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As you discover more about your child’s disease and as you come to terms with the extent of the long term care which will be needed, you may experience the following emotions.

 

LONG TERM

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  • Isolation

  • Devastation

  • Helplessness

  • Chronic Grief

  • Some Normalisation

  • Adjustment to Chronic Lifestyle

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It is important to join parent support groups where you can share your experiences with families in similar situations.

 

AFTER DIAGNOSIS

Preparing for the future of a child with AADC Deficiency can be confusing.

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  • Ensure you have a good local Physician/Consultant, who is easily contactable and experienced with chronically ill children. He/She should trust your instincts, be prepared to listen and willing to collaborate.

  • Also find a Physician/Consultant who is familiar with AADC Deficiency. Some of our Medical and Scientific Advisory Members will be able to fulfil this requirement. They will be happy to communicate with the affected child’s treating Physician/Consultant.

  • Discuss medical referrals

  • Discuss evaluations for therapies

  • Discuss genetic counselling

 

SUPPORT

Discovering your child suffers with multiple disabilities is a tragedy for any family. Learning that it is one the World’s Ultra-RARE chronic diseases can be completely overwhelming and a very frightening experience.

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We hope we will be able to support you and your affected child by providing the most up to date information about AADC Deficiency throughout this web site.

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As well as registering with The AADC Research Trust:

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  • find out about Local Parent Support Groups – not AADCd Specific

  • self educate and understand AADC 

  • communicate with other affected AADC Deficiency families and share your experiences

  • contact us with any questions you would like to ask and any information you would like to share

  • e-mail any member of The AADC Research Trust for support and advice about AADC Deficiency

  • explore other possible AADCd support groups

  • evaluate for home care (skilled nurses and therapists vs. non skilled parents). It is not a forgone conclusion that ‘skilled’ is the best option for your child. Discuss the entire needs of your child’s care with those involved in their well being. From diagnosis, it is important to keep a history of your child’s development, i.e. videos, photos, diaries, records and assessments

  • research the availability of financial and medical entitlements for chronically ill children in your area.

  • discover whether you qualify for respite care – if needed

  • prepare a long-term plan by using the information contained within the ‘What Do I Do Now’ lin

Some AADC Symptoms

OCULOGYRIC CRISES

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(spasmodic attack and fixation of the eyeballs upwards)

A common problem of AADC Deficiency is Oculogyric Crisis, which exists in almost all children with the disease.

It is important to understand that Oculogyric Crisis is not Seizures and vice versa. Treatments for both these conditions are different.

 

MOVEMENT DISORDERS

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Movement disorders in children with AADC Deficiency vary from child to child and more detailed information can be found under ‘about AADCd’ and ‘about therapy’.

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A child with AADC Deficiency should also be evaluated for the following:

  • seizure activity

  • medication – benefit and risk

  • safety issues

  • transport issues

 

The information about each individual child’s movement disorder should be shared and used to educate the caregivers.

 

AUTONOMIC DYSFUNCTIONS

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Complications of the autonomic system for a child with AADC Deficiency can include:

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Respiratory:

  • nasal congestion

  • risk of aspiration

  • positioning issues

  • potential for obstruction

 

Temperature Instability

 

Blood Pressure Irregularities

 

Sweating

A child with AADC Deficiency usually experiences excessive sweating:

  • assess for hydration

  • maintain meticulous skin care

  • educate care givers

  • frequently change clothes

 

Drooling

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Excessive drooling may require a hydration assessment.

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Medications:

  • Robinol

  • Scopolamin Patch

It is very important to maintain excellent mouth care. Discuss with your treating physician whether your child should be referred to a Paediatric Dental Specialist who has experience of children with disabilities.

 

Gastrointestinal

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Lack of nutrition will cause a failure to thrive. To ensure your child is receiving the full range of nutrients needed it may be necessary to assess and evaluate your child to ascertain if any of the following problems exist.

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Gastrointestinal problems may include

  • gastroesophageal reflux

  • change in bowel habits - constipation and diarrhoea

  • dysmotility and absorption (inability to pass food through the gastrointestinal tract because muscles do not work properly)

  • lack of nutrition

  • hydration

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Anaesthetic Risks

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If your child is to undergo procedures requiring an anaesthetic, it is essential to consider the following:

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  • the risk of Neuromalignant Syndrome

  • temperature instability

  • blood pressure lability

  • hypoglycaemia

  • secretions

  • ensure the timing of the procedure is compatible with established day-to-day medication requirements.

Therapy

Therapy

PHYSICAL THERAPIST

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A Physical Therapist is a developmental specialist who will probably be the main therapist, amongst a group of therapists, involved with the regular, on going, care of your affected child.

 

A Paediatric Physical Therapist will evaluate and assess your child’s:

  • history

  • muscle tone

  • motor function/strength

  • range of motion/flexibility

  • posture, balance and co-ordination

  • respiration (heart and lung performance)

  • overall well being

 

A Physical Therapist will design an individualised treatment plan to help maintain and promote some or all of the following:

  • improved muscle strength

  • range of motion and flexibility

  • skills for positioning, balance and mobility

  • restoring function

  • help to limit permanent disabilities and relieve pain

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If necessary a Physical Therapist will make a referral to:

  • orthopaedic specialist for advice on Orthotics / Braces / Equipment

  • wheelchair services


It is very important that therapists are experienced with chronically ill children and are readily contactable. They need to be prepared to listen, trust your instincts and willing to collaborate with other professionals involved with your child.

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A therapist should provide a written report of their findings after each assessment (not each session). These can be copied to all those involved with the handling and care of an affected child and provide information and techniques needed for carers to adopt on a day-to-day basis.

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These reports also help to monitor long-term improvements (or worsening) of an affected child’s state and therefore should also be copied to the Medical Professionals also involved with your child.

 

OCCUPATIONAL THERAPIST

 

A team of therapists should be involved with the well being of your affected child throughout his/her life. An adjunct to a Physical Therapist is the Occupational Therapist.

An Occupational Therapist will assess and report on the following at regular intervals throughout your child’s life:

  • fine motor skills

  • postural positioning and equipment

  • sensory integration (which could involve a further referral to a Sensory Integration Specialist)

  • feeding positioning and equipment

  • self care

 

It is very important that therapists are experienced with chronically ill children and are readily contactable. They need to be prepared to listen, trust your instincts and willing to collaborate with other professionals involved with your child.

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A therapist should provide a written report of their findings after each assessment (not each session). These can be copied to all those involved with the handling and care of an affected child and provide information and techniques needed for carers to adopt on a day-to-day basis.

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These reports also help to monitor long-term improvements (or worsening) of an affected child’s state and therefore should also be copied to the Medical Professionals also involved with your child.

 

SPEECH THERAPIST

 

A Speech and Language Therapist will become one of a group of therapists involved with the regular, on going, care of your affected child.

 

A Speech and Language Therapist will evaluate and assess your child’s skills for:

  • speech

  • language

  • communication

 

They will work on speech development helping an affected child to overcome their communication difficulties with:

  • problem specific therapy

  • augmentative communication

  • assessments for assistive technology - devices such as text-to-speech screen readers, alternative keyboards and mice, head pointing devices, voice recognition software, and screen magnification software etc…

 

A Speech and Language Therapist will also assess and manage difficulties with eating and swallowing by:

  • improving posture and seating

  • recommend specialist feeding equipment

  • recommend assessment by a Feeding Specialist - if necessary.

 

Please see ‘Feeding’ for more information on this subject.

 

It is very important that therapists are experienced with chronically ill children and are readily contactable. They need to be prepared to listen, trust your instincts and willing to collaborate with other professionals involved with your child.

​

A therapist should provide a written report of their findings after each assessment (not each session). These can be copied to all those involved with the handling and care of an affected child and provide information and techniques needed for carers to adopt on a day-to-day basis.

​

These reports also help to monitor long-term improvements (or worsening) of an affected child’s state and therefore should also be copied to the Medical Professionals also involved with your child. 

 

Feeding

 

Feeding is a difficult situation to deal with as it carries many risks and hazards. Full evaluation and assessments will be needed by a Feeding Specialist and may include:

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  • documenting a medical and feeding history

  • observation of feeding

  • safety issues – ‘Modified Barium Swallow’

  • assessment for oral motor function

  • assessment for sensory defensiveness

 

Feeding Interventions

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Consideration should be given to the following when evaluating a child’s feeding therapy needs:

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  • oral Desensitisation

  • individual seating, support and positioning

  • specific feeding techniques

  • specialist feeding equipment

  • bolus G-tube feeds – if necessary

 

Behavioural

 

It may be necessary to obtain a referral to a Developmental/Behavioural Specialist, who can prepare an Individualised Behaviour Modification Plan and advise on family support issues.

Quality Of Life

LIFE ISSUES

 

As a family, the future may suddenly appear altogether different to one you originally may have prepared for. Some life issues which may arise, include:

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Strain on Family Relationships

We urge you to seek professional help or genetic counselling if you feel the care of your affected child is jeopardising family relationships.

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Preserving the Dignity of the Child’s Self Esteem

Your child’s inability to communicate could be misconstrued as being intellectually lacking. Whilst this may be true (and only long-term evaluations will indicate this) a child’s dignity should always be respected. This applies to all those involved with the care of your child. Be sensitive with regard to conversations about them if he/she is within hearing range.

Socialisation- If you have not been involved with children who have disabilities before the birth of your own disabled child, it may be helpful to join local parent support groups to meet other families in a similar situation. This may help you adjust to a different lifestyle to that which you have been used to and will hopefully help your child to learn social skills and interact with other children.

 

Brothers and sisters of an AADCd affected child can be of tremendous importance in the development of socialisation.

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School Issues

Speak to the therapists involved with your child about future prospects and expectations regarding education and plan a visit, if appropriate, to the playgroup or school, well in advance of a starting date.

 

Considerations should be given to:

  • how will your child fit in?

  • how will your child travel to and from playgroup/school?

  • how far is playgroup/school?

  • what medical facilities are available at the playgroup/school?

  • what therapies are available at the playgroup/school?

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Travel

Preparing to travel with your disabled child may be daunting. Advance planning is advised. Some items to consider when planning:

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  • ask about wheelchair/pushchair accessibility at the location you wish to visit

  • check the emergency and hospital facilities at the location you wish to visit

  • speak to the travel company for advice on travelling with a disabled child

  • check the easiest mode of travel and their rules and regulations regarding weight, seating and wheelchair accessibility

  • enquire about holiday insurance cover for your affected child and their main carer

  • it is most important to ensure you are travelling with enough of your child’s medication to last the duration of your time away from home and include additional supply. In some countries your child’s medication may not be licensed or available. (Suggestion: divide medication supplies into separate pieces of luggage in case a piece gets mislaid)

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Emergency Plan

Ensure an emergency plan is in your child’s daily baggage. This information should include your child’s personal details, contact addresses, next of kin, medication requirements, physicians details, any special instructions, disease information. Remember this information should be regularly updated, as your child’s needs change.

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Concerns for the Future

Talk to family members and friends educate them about AADC Deficiency. Make them aware of your fears and concerns for the future of your child and, where possible, encourage registration to the The AADC Research Trust.

 

As your child grows, you may need to give consideration to house and car adaptations. Discover all benefits and entitlements, which are due to your affected child.

Note: The above list is not an exhaustive list of information. You should always seek the advice of professionals and therapists in your area to see how these issues effect you and your child.

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