Muscular Dystrophy, incurability, eugenics

Summary

The medical entity “muscular dystrophy” has been the object of a recent opinion campaign aimed at promoting a law in favour of euthanasia. This disease has become, in the eyes of the public, a media model of a particularly severe and incurable disease. This very widespread statement does not correspond to reality as far as concerns the life of these patients, to the condition that they have benefited from a very useful and fully provided empirical treatment. As already seen, the hope for life has already doubled, without clear limits. The idea of inducing an interruption when at death’s door, as long as a systematic prevention prior to birth, does not conform with the motivated opinion of the majority of patients consulted. On the contrary, the dogma of incurability may lead to dramatic individual consequences which should be stressed, from a medical viewpoint, on account of the unacceptable risks of social injustice or eugenics that this would imply.

Background

Influential French press media recently paid particular attention to the provoked termination of life, particularly regarding some cases of “muscular dystrophy” in two different European countries (1–4). It referred to the reactions concerning three cases of euthanasia of persons living with the aid of respiratory assistance, aged 61, 69 and 51 years. It expressed the major opinion lines of the supporters in favour of a “End-of-life Decisions” legislation, in flat contradiction to the dogma “Life is Sacred”, as a matter of fact, a recurrent debate (5). However, it drew also particular attention, for the first time, on a general disease described as incurable, in particular in reference to its better known type, Duchenne muscular dystrophy (DMD). Some scientific papers recently appeared defining, moreover, the latter as follows: “Duchenne muscular dystrophy remains an untreatable genetic disease that severely limits mobility and life expectancy in affected children” (6). Therefore, there is a conjunction of publications to strongly affirm the inhuman and irremediable character of such diseases, such a notion of incurability being able to justify some legal prenatal preventions, authorizing medical terminations of pregnancy (7).

On the other hand, if we look at the risk of latent eugenism, there is rare mention about one of the most important aspects of this question, i.e., the opinion of the patient himself, in respect of the first rule of the Law defined by the Nuremberg code to avoid the repetition of barbaric abuse, of recent memories: “The voluntary consent of the human subject is absolutely essential. This means that the person involved should have legal capacity to give consent; should be so situated as to be able to exercise free power of choice, without the intervention of any element of force, fraud, deceit, duress, over-reaching, or other ulterior form of constraint or coercion; …” (8). This individual informed consent rule was to be one of the founder principles of medical ethics. It is worthwhile mentioning the current reserves, also reported in the press by the French President of the National Ethics Consultation Committee (Comité Consultatif National d’Ethique – CCNE): “Dare we say: France sets up, step by step, a Health policy constantly coming closer and closer to Eugenics. We are not far from the ‘impasses’ in which one had begun to become involved at the end of the 19^th Century making Science to tell who could and who could not live (…) There is always a moment when politics takes Science at its word in order to transform Society to the motive that Science tells the truth …” (9).

The basic differences become clear, upon the evidence, in the relationships Society-Science-Medicine, regarding the current ideological tendencies, particularly those concerning the place that should be reserved in Society for physical misfits (10). When attention is being focused on cases of Muscular Dystrophy (MD), those currently in the news, legitimate to know if the truth of their very conditions is well perceived by those referring to their characteristics as inhuman, unbearable. On this very topic, substantial experience has been gained by the “Unité de Réadaptation et de Recherche Clinique” (URRC), in Poitiers, France, probably more than most. Indeed, the main goal upon which URRC has focused over the last 30 years has been precisely that of relieving patients of the constraints imposed upon them by the disorder, a priori incurable. Albeit, URRC has always considered that the relentlessness of a verdict of programmed death was unacceptable and that this should become, once and for all, inappropriate, thanks to constant improvements in all therapeutic resources, many of which empirical, but always susceptible to immediate progress (10).

The aim of this study is to present and discuss the more significant elements emerging from this experience, a contribution made in the hope of introducing the direct words of clarification of the patients who have actually been medically assisted, in the hard terms of an increasingly delicate debate.

Patients and methods

In the early ’70’s, our definite medical commitments have been established: “It is necessary to favour the treatment of the patients at home, as long as it remains normally possible … To fully protect the comfort in a seated position … It is essential to try to precociously compensate for the most important cause of death in these patients: chronic respiratory insufficiency” (11). Here, at that time, most patients were excluded from “normal” social life and relegated into “specialized” institutions. As a rule, the management core was limited just to protect the “ambulation” stage (12, 13).

The commitment in favour of global symptomatic treatment passed through three subsequent periods before being entirely confirmed. The first period – lasting throughout the ’70’s – carefully looked at the observation of the natural course of the disease, and at the clinical features to be treated (14). The second one – lasting throughout the ’80’s – aimed to search therapeutic protocols able to reduce the harmful effects observed (15). Finally, the third period – from 1990 until today – served to favour the diffusion of the results so far obtained, underlining the search for continuous improvement (16). Among the three main targets to be considered – ambulation, rachis protection, ventilation – the latter, in particular, was the object of special attention and of innovating initiatives. The rare isolated accessible actions, aimed to preserve the patient’s life, were restricted to the very final stage of the disease which required difficult and continuous hospitalisation (17–19). These attempts remained controversial and excluded, on principle, by eminent neuromuscular experts, such as, for example, the strict contra-indication to tracheotomy (20). These deep-seated reservations have been officially confirmed for a long time: “the long-term management of patients, in this way, raises many problems, not last being the eventual dependency on assisted respiration which may develop” (21). In fact, interruption of the medical assistance in this disease was a current practice in that period in intensive care units, in the case of non reversing respiratory failure (22). The need of a simple technique, easy to control without the use of sophisticated equipment, finally dominated with the aim of familiarizing patients with early ventilation at home, i.e. without reaching the critical stages (23). Thus, it was that nasal ventilation was conceived, using, at first, totally handmade means. A very long work load followed in order to confirm, with definite precision, the fundamental modalities of early indication and of specific surveillance, for sufficient efficiency. Such an approach, conditioning always the transition, in a further stage, to a more appropriate tracheal way, but specifically adapted to be better tolerated (24). The impact of non-invasive nasal ventilation was such that the technique rapidly became part of everyday medical practice, far beyond the initial indication for muscular dystrophies (25). In fact, this diffusion did not always lead to a benefit in this very disease, because the strict rules of these special features were often neglected, due to the predefined scientific protocols generally set up by some specialists in respiratory pathology (26, 27).

In these conditions, the main indisputable criterion worldwide, able to answer to the real effectiveness of the proposed treatments, is that of comparing longevity, both in quantitative terms (age of patients) and qualitative terms (patient appreciation).

Presentation of patients

The primary approach to obtain clear and reliable results is that of considering the clinical experience specifically acquired in the case of longitudinal follow-up. The cases reported here respond to well-defined criteria concerning the diagnosis of Duchenne muscular Dystrophy (DMD), reserving special attention to equal distribution of patients with regard to spontaneous variation in the clinical course and the occurrence of secondary functional or orthopaedic involvement (28). The second concerns evaluation of the therapeutic effects. The peculiarity of this analysis resides in the fact that the mean period of observation of the patients was 21.77 years. During this period, complete and regular evaluations were performed by the same investigator (Y.R.), at six-month intervals, from brief hospitalisations, and, on demand, at three-month intervals. In the face of such a state, the controls could not be randomly enrolled, as current protocols required, in the case of therapeutic trials of short duration (29). Therefore, the remainder of classical data, accepted worldwide as reliable, remains the gold standard to compare the results obtained.

As far as concerns the quantitative plan, two groups have been distinguished, precisely on account of exercising the medical continuity previously pointed out. Indeed, URRC interrupted activity during 2002, certainly with repercussions upon the continuity of the patients’ treatment:

• the first group comprises the older patients, those born between 1968 and 1976, volunteering from the start for open trials concerning their progressive respiratory insufficiency, whilst systematically requesting adapted ventilation assistance. The selected patients benefited from the entirety of the procedures available. The results presented thus illustrate the basic effectiveness obtained thanks to the original appropriate clinical research;

• the second group comprises second generation patients, born between 1972 and 1981, who benefited from procedures which had become routine, but for whom the completeness of treatment was not achieved. It is, indeed, this late change of care that leads to the difference to be taken into consideration.

As far as concerns the qualitative plan, an enquiry was made between 2000 and 2002 on a larger population. This series was made up, on the one hand, of patients presenting different types of dystrophies related to sex and, on the other hand, maternal ascendants involved by this genetic transmission. Motivated opinions, i.e., direct reflections on the evidence of the conditions of real life of each of the subjects interviewed, were collected in order to establish, in particular, the attitude that they would wish to see respected in the event of severe life-threatening complications (also concerning medical abortion).

Finally, within the context of a serious question touching the heart of modern societies, maybe more than the data expressed in figures reflecting a collective mean, it would be useful to report also the state of certain peculiarities, in order to clarify the debate which should distinguish general and individual.

Results

Natural history: elements of reference

During the 1980’s, A. Emery tackled the question of lethal issues in DMD, in his genetic, detailed contribution (21). According to his personal experience achieved on a large number of cases, mean age at death is observed overall prior to 17 years of age (mean 16.27, SD 3.12). All on formulating a reserve on account of non-inclusion, in the calculations, of some patients who were still alive, he defends the following statement: “However, the mean age at death in the last 10 years (1974-1983: mean 16.63, S.D. 2.53) does not differ significantly from the mean in the preceding 40 years (1934-1973: 16-49, S.D. 2.46 …). It would seem that if there has been any improvement in survival over the last 100 years, this has been slight”.

This absence of marked progress during a century on a determinant point is in keeping with the dominant conception of incurability. A modest correction, as far as concerns longevity, was proposed, at the same time, following two studies based upon a direct observation of the conditions of the deceased, in the absence of treatment. In the first, in France, the mean age at death is 19.5 years, SD 3.32 (stressing a useful parallelism between the deterioration of respiratory insufficiency and the loss of weight occurring in an advanced stage of DMD) (30). In the second, concerning many patients observed in Montreal, Canada, over a 10-year period, the mean age of the deceased was 20.59 years, SD 3.08 (31). The conclusion reported, at that time, is worthy of note: “The definitive criterion to judge the efficacy of a particular treatment, is certainly that of death in DMD. This normally entails considerable expectations […]. An indirect means, but very precise in order to appreciate the risks of mortality, and, therefore, the efficacy of a particular treatment, is the measure of the vital capacity, witness of the progression of a constant restrictive syndrome in DMD”. On this very point, research programmes destined to predict, as soon as possible, the unrelenting risks of a fatal issue have given rise to constant checking (14, 23). All the studies that have since been carried out on this subject have confirmed that the vital respiratory capacity is affected by a progressive and regular deterioration. This simple measurement of the corresponding negative gradient offered unique early information, in order to precisely evaluate the oncoming moment of death (32). A supplementary figure was determined at the end of the 1990’s, bringing on 300 cases, expressing the significant correlation between the spontaneous slope down of the vital capacity and the age of the DMD teenage patient to a reference value of - 8.06% per year (r = - 0.92).

In everyday practice, these elements should always be taken into consideration when associating those which gauge the progression of other deteriorations (functional orthopaedic and, above all, movement) in order to strengthen confidence and reliability of therapeutic decisions (Fig. 1). It must be understood that it is the conjugation of these various clinical criteria that allows the indications to be made for the procedure most suitable for the true condition of each patient, and to objectively control its efficacy. This step is indispensable to ensure the essential anticipation in order to have the opportunity to reduce the effects of MD always leading, otherwise, to inexorable complications (33, 34).

Figure 1.

Evaluation of the course of the disease. Only the longitudinal follow-up of the instructive clinical elements of DMD guarantees the necessary overall analysis. The reference is the natural progression of muscular weakness (3), characterizing the evolution of each case compared with the reference data (dotted line), unfortunately rarely improved. On the contrary, the functional (1), orthopaedic (2), and respiratory (4) complications are susceptible to being efficiently limited. The data refer to a patient with an exemplary result of early nasal ventilation (JCJ). Since the muscular deficiency is strictly related to the evolution of DMD, the progression of the respiratory insufficiency can be significantly reduced. Therefore, the poor prognosis of the disease is converted.

Quantitative aspects concerning the treatment applied

In this first group of patients duly treated (Table 1), therapy was initiated at a mean age of 11.50 years, rather late. The follow-up period lasted 22.9 years, that is to say:

Table 1. Results in the first group.

	Age		Respiratory condition
	Years	SD	% VC	SD
Nasal Ventilation	16.27	2.47	43.60	14.54
Tracheal Ventilation	23.85	3.73	17.20	5.93
Recent Evaluation	34.40	2.97	10.80	2.49

VC: Vital capacity

• Onset of the assisted ventilation training (after correction of deformities compromising correct sitting): mean 15.01 years. The training period required 1.26 years to achieve efficient duration.

• Onset of the observation of the beneficial effects on the previous vital capacity values: 16.27 years. Mean duration of intermittent nasal ventilation was 7.58 years. The decrease in vital capacity values was reduced to 3.48% per year, bearing in mind that the daily application of ventilation has to be adapted to the severity of evolution.

• Transfer to tracheal ventilation: 23.85 years (necessary to allow prolonged daily assistance, and to suck up obstructive secretions. The period of appliance was 10.55 years. The decrease in vital capacity droppedto 0.61%, evidence of the greater efficacy of this treatment.

• The current age of the patients thus treated, all living, at home, is 34.4 years. At the last examination, the vital capacity reserve was 10.8%. This result allowed it to be stated that the end of life could not be foreseen, and that slight autonomous voluntary breathing may be preserved for a long while.

Compared with the data related to the natural history, life expectancy is doubled. The differences are statistically significant. As far as concerns the percent decrease in vital capacity, while nasal ventilation reduces to 50% the course of respiratory failure, tracheal ventilation is able to nearly stabilize this decline. These results confirm that it is possible to obtain definite progress, thanks to ongoing specific research (35). The primary commitment, brought to the attention of the international medical community already in 1986, has, to a large extent, been respected:”Victory over the inexorably fatal character of this disease can and must alter its dramatic nature” (24).

Quantitative aspects concerning the partially applied treatment

For this second group, partially treated (Table 2), the onset of therapy was much earlier, at an average age of 7.85 years. But clear differences from the usual recommendations appeared at an average age of 25 years. The follow-up lasted 20.63 years, that is to say:

Table 2. Results in the second group.

	Age		Respiratory condition
	Years	SD	% VC	SD
Nasal Ventilation	18.87	4.51	40.60	5.46
Tracheal Ventilation	25.95	2.88	14.20	6.46
Deaths	28.58	3.90	6.40	2.07

VC: Vital capacity

• Age at assisted ventilation training: 16.32 years (patients benefited from surgical orthopaedic intervention on lowers limbs, allowing them a 2-3 years remission at early stage) (36). Paradoxically, the length of the training stage was longer with respect to that of the first group of patients, 2.55 years, on average.

• Onset of the observation of the beneficial effects on the vital capacity decrease: 18.87 years. The nasal ventilation approach confirmed the expected results (37). The mean period of use was 7.08 years, while the effect on the vital capacity decrease was 3.73% per year.

• Transfer to tracheal ventilation: 25.95 years. It is at this level that the difference is clear, due to changes in patient care. The period of application is, on the whole, shorter, with a decrease in vital capacity remaining at 2.97% per year.

• The age of the patients at death was established at 28.58 years (100%). The patent reason of this reappearance is a failure concerning imperative therapeutic anticipation. Late indication was unable to prevent entry into the detrimental stage, when blood gas anomalies become permanent (hypoxia, hypercapnia) and infection risks very frequent and severe (24, 35). Deaths are not due to the final evolution of the disease, but to additional non-reversible complications leading to unbearable deteriorations that, once again, could imply passive euthanasia.

The peculiarity common to these failures resides in the inadequate, poor, knowledge concerning the clinical specificities of DMD. This statement, before being a judgement, is necessary to strongly confirm that prevention represents the elementary therapeutic basis in this type of disease. It is equally necessary to underline that current information, particularly in the media, concerning now a positive extension of life in DMD but for a limited number of years (from 5 to 10), supports, in parallel, a mistaken opinion as to the utility of an early indication or tracheal ventilation (27, 33, 38–41).

Qualitative aspects

Very detailed questionnaires are now available to assess the opinion of patients deprived of functional independence and limited in their daily life. These tests have been used by URRC to ascertain the true view of MD patients followed in the past (from the most severe – Duchenne Dystrophy – to the more benign – Becker Dystrophy –, the latter being notoriously spared for a long time from a progressive respiratory risk). In general, the patients give, without hesitation, evidence of the essential benefit derived not only from the medical care provided but also from the prolonged surveillance (42). The present survey is more abridged and focuses on the essential aspects of life (Table 3).

Table 3. Opinions of treated patients affected by X-linked muscular dystrophy.

	DMD (n = 13)	BMB (n = 4)	Mothers (n = 13)	Total (n = 30)
	%	%	%	%
Life Interruption
Refusal	54	25	62	53
Favourable	22	25	23	27
Uncertain	14	50	15	20
Abortion
Refusal	84	25	69	70
Favourable	8	50	31	23
Uncertain	8	25	---	7

From basic knowledge concerning opinions, which is very rarely recorded, it emerges that the majority of the patients concerned seem to be very reluctant to the idea of lethal measures affecting their life. Interruption of life prior to its natural term is rejected (53% refusal, 20% uncertain). Also prenatal prevention, in the hypothesis that they could have the possibility to express their opinion, is likewise rejected (70% refusal, 7% uncertain). Talking of this, it was also asked whether the answer was influenced by religious or ideological considerations, but the incidence was very slight (17% yes, 40% does not know, 43% not at all).

Also the matter of suffering in the terminal stages of life has been discussed, as it was invoked to usually justify euthanasia. This aspect is not among the major worries of patients (only 23% of those interviewed categorically refuse to be in great pain). The majority consider, however, that Medicine must be able to effectively relieve suffering, without favouring radical measures. In essence, the frequently repeated remark is: “our life is worthwhile living”. Regarding the ability to accept their handicap, paradoxically, the patients stating a resolute refusal of damaging the integrity of life are those affected by the most severe form of muscular dystrophy (DMD). On the contrary, the patients less severely affected, surprisingly, more easily accept the idea of interrupting life. Therefore, neither the severity of the handicap nor the specific diagnosis of these severe diseases could represent the only elements of assessment, frequently external to the patient, when his time is drawing near.

Individual peculiarities

In practice, after having learned the classic data about differences between the clinical types of the disease (20, 21), in reality, there is something out of the schemes, such as the existence of intermediate phenotypes between Duchenne and Becker MD (11, 28). Will life expectancy in this case be threatened or preserved for longer? How to behave, in terms of medical decision in the face of complications that seem to be spontaneously less severe? Recent advances in the molecular diagnosis of the disease have confirmed the existence of these “intermediate cases”, but did not bring any answer to the questions raised above. Again, the helpful indications on how to best treat these “intermediate cases” stemmed from the long-term clinical observation of similar cases. This confirms the importance of the individual variations, also in the context of the same clinical phenotype (Table 4).

Table 4. Results showing two different clinical features with the same DMD identity.

	Case 1		Case 2
	Age	Respiratory Condition	Age	Respiratory Condition
	Years	Mean annual decrease	Years	Mean annual decrease
Natural ventilatory deficit	14.00	- 11.33%	18.25	-2.97%
Nasal ventilation	17.25	- 3.75%	24.00	-2.41%
Tracheal ventilation	23.75	- 0.30%	–	–
Recent evaluation	31.5	+ 9% (residual vc)	28.75	24% (residual vc)

Cases 1 and 2. YN and FN are brothers, born, respectively, on 11.5.1970 and 6.8.1975. The clinical diagnosis of DMD has been confirmed by molecular analysis showing exactly the same mutation in both. The clinical evolution, controlled from the beginning of adolescence until adult age, showed surprising spontaneous differences in severity of the disease. The eldest, YN, presented all the features of severe DMD with need of early assisted ventilation. The youngest, FN, has a less evolutive dystrophic phenotype, in particular regarding pulmonary deficit and, if unrelated to his specific familial context, could have been classified as an “intermediate type”. The practical consequence was that the indication to non-invasive ventilation for this patient was delayed until the age of 24 and his vital capacity is still high at the age of 30 (24%) without, until now, indication for tracheal ventilation. Vital prognosis has been radically different from that of his brother. This observation stresses that clinical differences between DMD cases could exist. This is critical because it means that the clinical pattern of the disease is not steadily pre-determinate (and that secondary factors could interfere?). The main justification for the defense of symptomatic research stems from this observation which, unfortunately, is too often not taken into due consideration. Moreover, considering that the severity of the dystrophic phenotype could be variable and unpredictable at the time of the diagnosis, this standard alone has no absolute value by itself.

Commentaries

Social promotion of incurability

“Since Duchenne muscular dystrophy is a serious disorder for which, at present, there is no effective treatment, a great deal of emphasis has been given to prevention. This involves the ascertainment of woman likely to have an affected son and prenatal diagnosis for such woman […] The information to be communicated concerns first, the disease itself, the genetic mechanism which caused it, and the risks of recurrence; and secondly, the options available if the risks are considered unacceptably high. These include contraception, sterilization, prenatal diagnosis, and abortion, each of which may, in itself, have important sequelae and require counselling”. A. Emery (1987) (21).

The basis of the “prevention” strategy of Duchenne (DMD) before birth, expressed here by a world famous authority recommending contraception, sterilization, prenatal diagnosis and abortion due to the severity and the lack of effective treatment, in effect, concerns one overall disorder rather than an individual subject.

The fact that muscular dystrophy is incurable has, in fact, become a social dogma: “I should like to further stress molecular genetics, an area in which great progress has been made. We are now able to diagnose muscular dystrophy prior to birth. This means that we can establish, already on the embryo, the diagnosis of a disease that is going to kill, at 20 years of age, at the end of an abominable martyrdom. I don’t believe that a medical doctor would refuse prenatal diagnosis to a couple who had already lived this experience.” J.F. Mattei, future Minister of Health (1992) (7).

At this stage in the History of Medicine, communications or publications certainly existed, already sustaining the reality of an available palliative therapeutic approach. This advancement never influenced the dominant dogma of incurability, and the actual continuation of a substantial progress against death issue was not considered worthy of being protected. The dogma was based, it would appear, upon the precise strong influence of a predominant scientific hope: “Three points appear, to me, to be particularly important. The first is that these prenatal screenings are ideally conceived as progress in Scientific knowledge, in Lights and Reason […] The second point is the very great access to these screening techniques. The third is, in a way, a consequence of the first two: i.e., the terrifying lack of acceptance of handicapped people.” D. Sicard, President of CCNE (2007) (9). Moreover in this field, the non-respect of elementary deontology rules was not unusual (43). The journal Nature (9th June 2005), quoted, as an example, the choice of silence regarding quality work, on the subject of information, a reprehensible attitude as far as concerns the matter of “medical research where it is sometimes a question of life or death” (44).

The current appeals in favour of active euthanasia for MD patients proceed with approximation: “I belong to the first generation of women who have campaigned for abortion and freedom of fecundity. The taboo of sex has been overcome and we do not want to be submitted to the taboo of death” (2007) (4) C. Hury, Secretary General of ADMD (Association for the right to die with dignity).

Figure 2.

Overall view of the treated patients, in the fourth decade of life, all living at home, collected during medical control, in the hospital. Apart from a common diagnosis of Duchenne muscular dystrophy and a similar muscle weakness, each of them was able to flourish according to the particular personality, and to benefit from the prolongation of life obtained, in spite of various adverse circumstances.

This polemic and social attitude, driven by the need for a legislation sustaining personal decisions concerning the end of life, is not, unfortunately, without repercussions upon those directly concerned by the everyday anxiety of the patient doomed by his status of incurability. Indeed, without doubt, it is even the respect of a permanent and essential treatment which can be threatened.

Cases 3 and 4. PS, born 19 December l975, affected by a familial DMD, had accepted all the therapeutic procedures proposed by the URRC, solely because he wanted to live in an autonomous and very independent fashion. His success had been chosen, in 2004, in order to represent an eventual model for other European patients (the last few words of the corresponding text are actually his: “For you, is your disease incurable? Of course no”) (45). Having lost the continuity of his regular 22-year treatment, he was assigned to another medical group. Before then, it had been stressed how the indication of a tracheal approach was indispensable, which he had completely accepted (nasal assistance of limited efficacy - 3.99% per year, vital capacity at 16% indicating the entry into a permanent lethal risk zone) (Fig. 3). This recommendation had not been followed, under the pretext of difficult social assistance. He died on 8th December 2006, due to terminal respiratory insufficiency, having been hospitalized in intensive care for three weeks. His family continues to beg for help considering the abnormal loss of such “an exceptional child”.

Figure 3.

At the age of 29 years, P.S. realized an exceptional project of an independent life. At this moment, he accepted the principle of a more protected ventilation via a tracheal ostium, encouraged by the prospects of improvement in the perfection of a device specifically adapted to his needs. Unfortunately, this grounded indication was dismissed later by others.

JCJ, another young man, born 15th June 1972, came close to death, at the beginning of 2006, due to negligence, following a distress call, on his part, on account of a mechanical failure of his respiratory device (Figs. 1, 4). His family and he denounce a defective aid, as those called in could only put forward an incurable situation, because of JCJ’s diagnosis and age.

Figure 4.

At the age of 35 years, JCJ has reached a stage of quasi-stabilization of Duchenne muscular dystrophy. He supports now the concept of a real improvement since adolescence, when his life expectancy was judged as very limited. He was one of the first children treated by early nasal ventilation. Very motivated, he carefully followed this treatment for almost 17 years, before accepting, in due time, a tracheotomy, which became indispensable (left: typical aspects of a severe DMD at 12.5 years; right: physical condition at 34.5 years).

Unfortunately, for renunciations of this kind, which are increasing, what prevails at present, is, on the part of the relatives, a feeling of painful and intolerable injustice.

Muscular dystrophy and eugenics

If the aim of this study is not to interfere in a very delicate general question of society, nor to cast doubts upon the difficult work performed by efficient geneticists engaged in dramatic family situations, nor to criticize the research workers investing all their efforts to find an ideal solution leading to recovery, it is, nonetheless, necessary to consider the unrecognized viewpoint of the patients who have been able – by way of their own desire and the care they have received – to overcome the established principle of incurability. For certain, the most important aspect to be taken into consideration is the existence of very great imprecision concerning the qualification of the major facts which have been reported. These uncertainties are deleterious to secure imperative medical duties or to shed light on all the responsibilities that this implies.

As far as concerns the medical interruption of pregnancy for instance, the French Code of Public Health (Art. L. 2213-1, law of 4th July 2001, art. 11) allows its authorization if the continuation of pregnancy implies “a great risk for the woman’s health” or that “a strong possibility exists that the child to be born is affected by a particularly severe condition recognised as incurable at the time of diagnosis”. Related to the case of MD, a confusion does exist in the various degrees of information that might be given about that particular severity of condition recognized as incurable.

As far as concerns the end of life, there is current agreement for restrictions of unbearable and desperate treatments (22). This is not a new situation. Francis Bacon, already in the 17th Century, stated: Doctors have scruples remaining close to their patient after the illness has been judged as desperate; exerting interdiction in an almost religious fashion. In my opinion, they should, on the contrary, at the same time bring help to support and to make lighter, the agony and suffering related to death. In modern times, these humanitarian goals became permanent. In 1977, public attention was first focused on the need to assist patients with cancers, at the end of their resistance (5). Later, the resolution focused rather more on cases of prolonged deep coma. Finally, quite recently, respiratory aids, poorly supported in cases of MD, became a symbol submitted to public opinion (1–4). Here again, confusion raises immediate practical questions: follow-up of treatments, definition of the medical responsibility in the light of a disease considered as incurable, etc. However, a person in charge of these patients can confirm here, that in 35 years of practice, no request has ever been made to induce a death, but the permanent need of economic and social assistance, sufficient to live decently, remains a first concern.

In such conditions, where is the patient’s or their family’s own will, being always collectively influenced in the same way, the announcement of a critical state? The measures of selection already adopted exceed– the imperative of the individual, with the risk of recalling drifting still recent, even though it is difficult, or not in common use, today “to draw a clear demarcation line between what is eugenics and what is not” (46). However, some attempts at clarification have been proposed, particularly in thoroughly reflecting? on the subject: “Three major dichotomies appear in the structure of the current talk on eugenism: the dichotomy between the individual and the social, the distinction of the intentions and the effects, finally the alternative between coercion and voluntary decision” (47). Concerning muscular dystrophy, according to these criteria, confusion is inevitable, both in the social incidence, in doubtful intentions, and in a conditioning of consent, despite numerous protections which have already been proposed (genetic counseling, ethical committees, subsequent legislations ...). If an urgent Legislation has to intervene, it will not be that claimed now concerning euthanasia, but that allowing the numerous contradictions harming or damaging the priority fight against illness to be clarified.

Conclusion

The Universal Declaration of human rights, proclaimed by the United Nations General Assembly on 10^th December 1948, established in the third article: “Everyone has the right to life, liberty and security of person” (8). During more than one century, intellectual attempts standardized the value of Man according to the shape of his skull, the prominence of his mouth, the colour of his skin etc. In a similar way, the qualities of Man have been quantified according to the measures of his intelligence, of his physical performances, while mentally and handicapped people have been excluded separately. Genetics later demonstrated that any form of racism is absurd. Ideally, it must be also the closest joint liability of Medicine and Law to protect Humans from any discrimination just based upon the severity of a specific disease.

In Memoriam

Un garçon avait compris que la force de sa vie pouvait, devait, compenser la faiblesse de ses muscles. Son exemple était une richesse majeure (45). Il nous manque beaucoup, et ce travail a été réalisé en pensant à lui.

Institut Duchenne International