When they learn their child's illness, parents feel completely helpless and in extreme solitude.

AT Europe, through its website and forum, aims to provide you with sufficient information for proper management of AT children.

The French CEREDIH also published a summary sheet of recommendations for families but also for caregivers. The english AT Society and the american ATCP provide also informations and specific AT care centers in their own countries.

InstigatOrs

Parents know their child best and guide the doctors who have to listen. By reporting a change in behavior, fatigue, decreased appetite, lymph node, an allergic reaction., etc ..., they give them vital information. It is therefore important to pay attention to any changes in the child with Ataxia telangiectasia, whether physical or behavioral, or if they appear after a change in treatment.

Coordinators

By transmitting the medical history of their child to the doctor who doesn't know him, parents can help him set a faster diagnosis. This oral transmission is often faster than the reports that doctors send each other or even than the medical record itself, although it is obviously approximate.

With medical records, parents are the only points of convergence of information about their child. By providing this information to medical, paramedical and educational staff, they are the only ones able to put them in touch and thus increase efficiency.

Multidisciplinary team

The ATM gene is present throughout the body and its absence impacts as many functions as corresponding medical specialties.

It is essential to be able to assemble a multidisciplinary team around the child with Ataxia Telangiectasia, preferably in the same structure to enhance communication between doctors. Indeed, one can always think that one doctor in one place is better than another one. But if these "best" doctors of different disciplines only speak to each other by mail with intervals of weeks, the follow-up of your child is far less efficient.

AT Europe : we are parents

AT Europe's mission is research. Yet basic research is also based on observation. So there is an interest in knowing the symptoms and the development of ataxia telangiectasia in an attempt to identify the body processes that cause them.

This has already been initiated by the CEREDIH in a program funded by the Ayache family, one of the founding families of AT Europe. The logical extension of this program would be setting up a network of multidisciplinary consultations around existing teams knowing perfectly ataxia telangiectasia. This would have the double advantage to systematize the collection of information on the AT patients and to avoid for the families the effort of explanation and establishment of competent teams.

For a child to keep confident in the medical staff, it is essential to suppress pain during the various treatments performed on him. Today, it is possible.

A child may not suffer, but say the opposite because he is afraid. Fear is a form of trauma and must be taken into account in the management of pain. There are ways to make it disappear.

Pain free procedures are now widely spread in all hospitals. Professionals and parents should ensure their application.

Children with ataxia telangiectasia are brought to be often confronted with the medical community, synonymous for great anxitety. In order that visits to doctors or in hospitals become a routine, preferably nice, it is essential that all the care they receive is surrounded by maximum precautions. To do this, one must:

• create as much as possible a pleasant environment around the child
• establish a trusting relationship with him
• suppress pain in medical procedures

Confidence

In fact, these last two points are closely related. You can not tell a child: "Trust me" if afterwards, he is suffering. This is obviously relevant to the medical staff, but it is equally important for parents who bring, in spite of themselves, their child to the hospital. If the place is synonymous with pain, then the child may not trust them anymore.

Generally speaking, it is a truism to say that confidence is established if the words are followed by actions. In other words, each medical act has to be explained to a child: how it will be done and what means will be used so that he won't feel anything ... and do what was said.

Injections

When we think "hospital," we usually think "injection".

With the prospect of the injection comes into play a series of worrying criteria such as the size of the syringe or the virtuosity of the nurse. In fact, we can reduce the number of objective criteria for pain to four:

• the spot where the injection is going to be: it may be more or less dense in pain sensors, therefore more or less sensitive
• the softness of the contact made with the nursing staff: this will determine the degree of confidence that the child is going to give prior to anything
• the immediate environment: for example, the dispersion of attention, by singing a song or watching a cartoon... is likely to lower the anxiety preceeding the injection
• the diameter of the needle: it is variable and determines more or less the means used to reduce pain:
  
  • needles for subcutaneous injections (vaccines, local anesthesia, immunoglobulins ...) are very thin and just cause a slight tingling sensation at the time of the act. This tingling can be completely removed by applying a local anesthetic cream or a patch, between 1 and 4 hours before (EMLA cream or patch in).
  • blood tests and infusions needles are slightly larger and the act itself is a bit more complicated because the nurse must find and pierce a vein, which can be both impressive and painful for the patient, not to mention the risk of failure. But again, the anesthetic cream mentioned above works miracles. In order to de-stress everyone, including parents and nurses, it is also possible to use a sedative and euphoric gas, a harmless mixture of nitrous oxide and oxygen (Entonox, Kalinox,...)
  • for even larger needles, like those used for amniocentesis or puncture, local anesthesia is used with previous sedative injections, which brings us back to the two previous cases, thus making the act also painless.

Surgeries

The recommended precautions below are valid mainly for surgery requiring only local anesthesia, a skin biopsy in dermatology for example. It is a deep skin sample, which can be impressive and painful if not properly prepared, if all precautions are not taken to minimize the inconvenience. But they also apply to preparations to more invasive acts or general anesthesia.

Thus, it is desirable that the following conditions are met, in addition to environmental criteria and confidence as previously treated:

• The act has to be conducted at the hospital in the presence of at least two nurses in addition to the doctor: one to care for the child, the other one to attend the doctor.
• Before the start of the operation, a sedative, sometimes the Entonox (see above), should be administered to the child so that he does not care what happens around him, that he does not see the instruments that will be used or even the doctor performing the act on him.
• The time of action of the anesthetic used must be scrupulously respected.

If these three conditions are met, then your child will not feel anything. He probably will not remember anything. This will allow to tackle the following acts with great serenity.

This protocol is the only one to respect the anti-pain charters that are now well established in modern medicine.

You have the inalienable right to refuse or to halt an operation that does not comply with these conditions.

IMPLANTED INJECTION CHAMBERS OR PAC (Port-A-Cath)

Patients who require regular infusions as the injection of immunoglobulins may see their venous capital deteriorate over time (veins difficult to penetrate, damaged by the products of injections ...), making the infusion difficult, so painful, to set.

One solution is to put, under general or local anesthesia, a small injection chamber under the skin, usually over the pectoral muscle next to the clavicle. Also known as Porth-a-Cath (PAC), it is equipped with a catheter which is connected to a large vein near the heart. The chamber is closed by a silicone membrane to receive a needle for injection or allow blood sampling. The needles used are specific (Huber tip or Gripper System) and must be positioned with all the precautions of sterility.

This system may present some risks, however rare if used properly and with precaution:

• risk of infection: mostly due to neglect of sterility, especially after implantation
• risk of clogging of the catheter: it is called a thrombosis and can be prevented by rinsing thoroughly before and after injection
• risk of turning over: usually due to bad manipulation
• risk of embolism: a consequence to thrombosis or manipulation of the chamber without care

A final drawback of the system is purely aesthetic: the PAC may appear under the skin and form a small ball.

However, it has significant advantages: :

• it avoids damage to the veins
• It offers great comfort of use by:
  
  • suppressing pain of the injection only by using a local anesthetic cream (EMLA)
  • suppressing pain usually caused by searching for a vein with the needle
  • reassuring both patients and their families as well as caregivers to the extent that the medical procedure is repeated each time the same way with the certainty of the absence of pain

Anyway, the decision to implement a PAC has to be discussed with the doctor.

80% of patients with ataxia telangiectasia have an immune deficiency.

The immunologist should be, with the neurologist, the referring doctor.

The doctor for prevention

Indeed, while the most visible signs in ataxia telangiectasia are neurological, danger comes mainly from the deficiency of the immune system, causing lung diseases and half of the cancers in patients with AT: leukemias and lymphomas.

Immunological check up

In case of repeated sinus or respiratory infections, immune deficiency may be suspected. The balance of immune protection is made through a blood test. It analyses:

• The rate of immunoglobulins
• The number and type of B and T lymphocytes
• The response to different vaccines

Usually, the results found do not change with time and do not need to be repeated unless there is an increased number of infections.

Treatments

It is not known at present how to manufacture immunoglobulins (or antibodies), especially since they are often very different and specialized in responding to a particular disease. We know however how to extract, purify and inject them without risk of rejection, since they are only molecules. This is not the case for lymphocytes for which a low rate significantly increases the risk of infection.

The arsenal available to the immunologist to treat immune deficiency is therefore limited and can not completely restore the defenses. He may propose:

• Relevant vaccines and those who are not because the immune system would not answer to them. This is done on a case by case basis according to each deficit
• Taking very regularly an antibiotic to target antigens whose aggression would not be supported by the damaged immune system of AT patients, to prevent lung infections for example.
• All substances and tonics to overcome the deficiencies noticed during regular and necessary blood tests, the immunologist being the best positioned to interpret them.
• A reminder of the basic rules for infections' prevention
• Regular inputs of immunoglobulin to restore acceptable levels in the blood. The solution injected intravenously or subcutaneously comes from the purified plasma of thousands of donors, which were, during their lives, in contact with many diseases for which they have developed specific immunoglobulins. This way an acquired immunity is recreated in patients and will protect them partially against diseases with which they have never been in touch and for them potentially dangerous. Unfortunately, it is almost exclusively a contribution of IgG as IgA are generally poorly tolerated. The IgA (mucosal protection) and IgM are not replaced, which partly explains the increased susceptibility to lung infections retained by the treated patients. In addition, the life of these antibodies is limited (30 to 35 days) and the injections must be repeated every 2 to 4 weeks for infusions, weekly subcutaneously.

The CEREDIH

In France, under the leadership of Professor Fisher (Necker Hospital and Scientific Committee of AT Europe) and the Association Iris, the CEREDIH is the French reference center of hereditary immune deficiencies which includes ataxia telangiectasia. This structure has a network of competence centers located throughout the country and works with the rest of Europe including the ESID (European Society of Immunodeficiency). It is a partner for families and AT Europe from the beginning.

thumb helvetica, stuff sans-serif;">Ataxia telangiectasia is a disease that affects various parts of the central and peripheral nervous system with mechanisms that are not yet fully identified. .

The doctor of diagnosis

The neurologist is often the physician who diagnoses ataxia telangiectasia by analysing its effects. Unfortunately, there is currently no treatment to stop or even delay neurological deterioration, although recent discoveries may well alter this statement. But, even without treatment to prescribe, the neurologist is essential to explain the neurological signs and of course, for research.

Neurological evaluation

Facing a AT balance disorder, the neurologist will confirm the origin of ataxia and establish the dysfunction of the cerebellum. He will search for the consequences of it and will therefore be interested to:

• Posture, standing, walking: walking is unstable, the legs are often too close together, causing the foot moving forward to abut against the other, or to go too far and lead the whole body to be unbalanced outside the trajectory. If most of the time, the children keep their balance through consistent efforts, the slightest obstacle causes the fall. They generally prefer to run, taking advantage of increased stability due to the inertia.
• Tone: in young children with AT, a low tone explains the postures taken at the limit of balance. Tone increases with age, the stability of the trunk and neck too. But the tone may become too strong and cause stiffness.
• Eye movement: the ability to capture an object, to follow it if it moves and the link between balance and vision rely on different parts of the nervous system which are however perfectly known.
• Search for parasitic movements: they are rare, increase with age and are first noticed at rest on the hands and feet. They can sometimes be amplified by the will to counter them or may be specific to a particular movement.
• Capacity and quality of writing
• Facial expressions, speech
• Swallowing
• Intellectual abilities
• Sensitivity

Treatments

There is at present not known treatment to stop or even slow the effects of neurological degeneration in Ataxia telangiectasia.
However, tests have been carried out to measure the impact of a diet rich in antioxidants in order to reduce the oxidative stress responsible for the degradation of cells. Others are currently evaluating drugs used to treat other diseases which seem to have improved balance in people with AT. But what is not yet knomn are the side effects. Very recently, a French team has published encouraging results of gene therapy performed on three children with a neurodegenerative disease.

alternatives

Pending a solution of the same type, which is the aim of AT Europe, it is essential to try to maintain as long as possible the capacity and autonomy of AT patients. To achieve this, the neurologist will use coping and compensation skills of the brain and develop techniques to circumvent the difficulties with the help of different specialists:

• Physical therapist
• Occupationnal therapist
• Psychomotor
• SLP

Patients with ataxia telangiectasia are particularly at risk for pneumonia :

• in cases of immune deficiency
• because of possible choking

Lung diseases are a real concern for them. Their evolution, often rapid, is a real danger.

Signs and vigilance

The signs of these infections are highly variable and sometimes insidious. For example, infectious agents commonly found harmlessly in the body of the majority of people will find fertile ground for development in patients immunocompromised. These are called opportunistic infections. Eg CMV (cytomegalovirus), fungi ...

That's why you should never take lightly in a child with AT:/p>

• Fever, even low
• Cough, dry or not
• Green secretions
• Chest pain
• Difficulty for breathing or even an increase in respiratory rate. Portable devices exist and can measure easily with a clamp on a finger the oxygen rate in the blood of a patient: oximeters. These devices are commercially available, even on the Internet.

The doctor of emergency

The pneumologist generally intervenes when the infection is already well advanced, that either the immune deficit or/and the ataxia Telangiectasia have not yet been detected , either that the pathogen is past through the meshes of the net taut by the immunologist which we saw that it could not be perfect. In fact, it is essential that effective collaboration is established between these two doctors for the pneumologist can treat in the most effective way the infection.

Diagnosis

Chest radiography is often the means used by pneumonologists to diagnose.
But in the case of ataxia telangiectasia, radiation should be avoided as much as possible (see Chapter radiation ). This information given to the doctor and the radiologist should be sufficient to establish the best compromise: impact of radiation / urgency and relevance of the diagnosis.

Other means of investigation exist, but are not always suitable as they may be more invasive and, for some, may create other passages for potential pathogens:

• the bronchoalveolar washing
• transthoracic puncture (through the thorax)
• surgical lung biopsy
• and other technical innovations that appears every day

Treatments

The infectious agent is not initially known, so the pulmonologist will prescribe first a broad-spectrum antibiotic, or a combination of anti-infectives, to cover a range of the most frequent pathogens.

The choice of a more targeted treatment will be made after the results of analysis and culturing of respiratory specimens, which can take several days.

During lung infection, the alveoli being partially blocked, oxygen exchange with the blood is less efficient and the rate of oxygen in the blood is low. To remedy this, additional oxygen is provided and sometimes ventilation assistance, either with a mask, or in some cases by intubation.

But the ideal is still to remove all secretions of the respiratory system and for this, the respiratory physiotherapy has an important role. The plasticizers (N-actetyl-cysteine) can sometimes help to bronchial drainage.

Finally, some more limited but useful actions may be:

• Using saline to clean the nose
• Taking hot drinks also participates in the nasal drainage.
• Humidifying the room. If using an electrical appliance, be sure of its cleanliness./li>
• Changing the bed sheets regularly

Pneumologic evaluation

The recovery of the full capacity of the respiratory system is long and often incomplete according to the aftermath of the lung disease. In order to quantify it, there are a number of tests: pulmonary function tests or PFT. They aim to check lung capacity and quality of exchanges of oxygen into the blood. These evaluations are absolutely not painful and last generally an hour.

Prevention

Prevention prescribed by the immunologist who seeks to avoid potential infection is unfortunately not perfect.
Except for children receiving infusions of immunoglobulins, vaccination against seasonal influenza and against pneumococcal disease provides a benefit but can not cover all possible causes of lung infections.

Therefore, making prevention against the risk of lung infection is also to reduce to the maximum potential exposure of children with AT to different pathogens, reducing the chances that they reach their bodies. For this, few precautions may be sufficient:

First of all be careful: of course, be attentive to the signs described above, but also to the environment of children with AT. Ask to be informed about the sick children in the classroom, nursery or play areas and ensure that they avoid contact with them.

Respect the elementary rules of hygiene, especially when there is an infection in the family circle:

• Wash hands frequently (contamination coming often from the hands to the nose or mouth))
• blow in a throwaway paper tissue and... throw it
• cover your mouth when you sneeze and wash hands immediately
• possibly, for the sick people of the entourage, wear a mask
• spit secretions
• clear nose by blowing the nose or washing it frequently with saline. Indeed, the secretion are in fact made of mucus which has imprisoned the infectious agent: it must be evacuated.

Reduce pollutants

• If possible, choose a place of residence slightly polluted: for example, sanatoriums where tuberculosis was treated were located in altitude
• Aerate often or study the ventilation system of his home: it is now recognized that in most cases, including downtown, the inside of a poorly ventilated housing is much more polluted than the outdoor
• Choose smartly the interior materials: even if the standards are evolving, many building and decoration materials are still using highly toxic chemicals. Pay particular attention to mineral wool, sanding dust, glues, varnishes and painting. Conversely, some manufacturers propose materials, including paints, which are able to control pollution or even have antiviral properties.
• Chasing the dust: prefer the tile or the floor to the carpet. Do not multiply teddy bears, carpet, corners ...
• Maintain the lung respiratory capacity with physiotherapy, games and sports and never forget to laugh: it's an excellent exercise!

As we saw in chapter " skin - mucous membranes ", ataxia telangiectasia causes accelerated aging of the skin and mucous membranes. Because of the very frequent absence of immunoglobulin IgA in patients with AT, they are less efficient as first barrier against infectious agents.

The essential doctor for apparently minor skin defects

Both the above factors are likely to explain the large number of more or less serious conditions of the skin and mucous membranes which can be seen among the patients with AT. However, there are no small pains: all must be taken seriously because of their ability to get worse. This is the role of the dermatologist. It is important that he is familiar with immune disorders and the mechanism of ataxia telangiectasia. Ideally, he should be part of a multidisciplinary team.

Dermatological evaluation

Dermatology is one of the few areas of medicine where the evolution of a disease can be visually followed. The rate of change is also an important factor, the change in appearance as well. This is why a regular auscultation through the eye of the professional seems desirable because he can determine early the danger of a defect and the actions to be taken before the problem becomes serious.

Sometimes, however, visual auscultation is not enough. It is then necessary to biopsy or, in case of doubt, to remove the lesion.

Treatments

the principles of treatments (not the treatments that only a physician should prescribe) in this paragraph relate to the common conditions encountered in the ataxia telangiectasia and exposeded in the Chapter skin - mucous membranes. The complexity of the others, the absence of treatment or even simply the fact that this chapter is not meant to be exhaustive are that they are not treated here.

Trush:
Thrush is a benign condition. Treatment requires the use of local applications of bicarbonate or drugs against fungi (antifungal).
A general treatment (tablets) is sometimes necessary when the esophagus is concerned.

Eczema:
It depends on the type of eczema. It consists of:

• For contact eczema, the suppression of contact with the allergen, but it is often difficult to obtain in practice.
• For the atopic eczema, try to obtain the removal of respiratory allergens such as dust mites.
• Regardind the allergenic foods, a special effort is required for the patient to highlight and avoid them. As for infant eczema, the goal is to make prevention by diversifying their diet.
• A special treatment is the one for the eruption. It uses antiseptics in a daily bath. The product most commonly used is potassium permanganate, or the 1% silver nitrate on the oozing lesions. But be careful because it is irritating and can aggravate skin dryness.
• Local treatment is based on corticosteroids (cortisone cream) and the hydration of the skin with emollients.
• The general treatment uses antihistamines, but also anxiolytics. Finally, we can consider in some cases as a basic treatment after an investigation allergy desensitization. For others, climate change as well as spa treatments can make a significant improvement especially when eczema is chronic.
• In case of conversion into impetigo, an antibiotic ointment should be taken, on doctor's advice of course.

Sweat sometimes aggravates eczema. It may then be necessary to avoid clothes that are too hot or too tight.


Seborrhea:

• Morning and evening cleansing of the skin with an adapted soap and careful rinsing.
• Some doctors prescribe retinoids based drugs (drugs containing derivatives of vitamin A, retinol, absolutely against-indicated in pregnant women).
• Application of cream or gel containing progesterone have been tried.

Prevention

In the general population is now well established the need to protect themselves from radiation, including ultraviolet radiation from the sun, source of premature skin aging and even cancer. This is obviously even more true in ataxia telangiectasia. (See Chapter radiation )