Fibular aplasia – Break a leg! (Part 1)

Living with the fibular aplasia lower-leg disability


Should you write about something like that? Especially when you are affected yourself? What will other affected people say: will they share your points of view? And what will the people around you think? How will your family, which has brought you up with this handicap, feel about it? These kinds of questions come to mind when writing about such a sensitive and personal matter. Sensitive, because is touches and influences every aspect of an affected person’s life; personally, because I was born with the fibular aplasia disability.

Special by nature

Before I provide a definition and explanation to those people who do not yet know this disability, I would like to explain my approach and motivation for this article. Indeed, it is not easy to write about something that distinguishes someone to such an extent from the everyday “norm” of people (the words “disability” and “deformity” make this fact very clear in a very rigorous way). For some it may be easy, for others it will be quite difficult. Obviously, this is related to whether you have an up-front self-confident character and have “always” had a laid-back attitude towards your handicap (which is strongly influenced by the parents’ attitude), or if this is not the case. The latter must not necessarily be the extreme opposite – thus, repressing or at least hushing up the fact of having a disability. It can also result from never having made a big fuss about being disabled and simply accepting it. Yet, a possible result of this attitude could be that one rarely speaks about it and that a conscious examination, externally as much as internally, might be neglected.

The latter is mostly related to the affected person’s environment: His or her way to cope with the disability and other peoples’ way to react to it. However, the person itself will never remain unaffected. The disability will influence almost all experiences and emotions, mindset, relationships to other people and the attitude towards life. Moreover, it defines to a large extent the individual perception of one’s body, which in turn has a significant impact on a person’s behaviour and self-esteem.
You are never part of the so-called norm that is often suggested to exist in everyday-life (but almost never truly exists). Whether you want or not: you are literally something special “by nature” – as is any person with a physical disability. You must or, rather, may make experiences that will always remain inaccessible to others. And this goes beyond both the optimistic idea that we all are something special and unique and the pessimistic idea that we all have our cross to bear. A congenital physical disability will inevitably be worn on display during your entire life, for everyone to see in different situations. It cannot be unlearned or changed like a character trait, nor can you come to terms with it or overcome it like a bad experience. For affected persons it is omnipresent – it becomes an inseparable and fundamental part of your life, intrinsically tied to your mind as it is to your body.

Whether this will have a positive or negative impact on your character and emotional world depends and many different factors, which you can be influenced only to a very small extent and for which the basis is established in early childhood. It this regard, people with a disability and those without are identical: each human life is a huge puzzle that is put together slowly piece by piece and never in the same way – and sometimes one piece just doesn’t want to fit.

All this should not lead to the impression that I have a pessimistic view on the fact of having a disability. The fact alone of writing this article will show the reader that I do not repress this issue. On the contrary, I am very conscious of the unique possibilities that dealing with this nature-imposed disability provide to my personal development, and I’m very thankful for this. Beyond that, I am a huge fan of shorts, which I wear from February till November.
Nevertheless, it isn’t nor shouldn’t be easy for me to write about it. For it is something that confronts affected persons (in this case equally including children and parents) with many anxieties, considerations and necessities which they were never prepared for. “Everyday life” is something that will only return when you have learned to cope with all this ... a life-task. However, this also does not have to be something negative per se. It is up to each person to judge this for him or herself and to shape his or her life accordingly.

Finally, I would like to emphasise that this article exclusively represents my personal experiences and views. In no way do I claim for myself to speak for other affected persons. This is but one from a myriad of different perspectives. However, this article may perhaps help young parents of a child with fibular aplasia or another walking disability to cope with something that they were unprepared for and for which outsiders can only prepare them to a limited extent, if at all. The children themselves do not need any preparation, they grow up with whatever they are provided with; they grow into a life with certain physical limitations, which they often overcome due to the wonderfully naïve self-conception that everything is possible.

What is fibular aplasia?

In simple and very general terms fibular aplasia is a congenital (but probably not hereditary) deformity of the fibula, the rear and weakest of the two lower-leg bones. The word aplasia is of Old Greek origin and signifies “undeveloped“. In the Latin medical terminology it is used for such deformities in which organs are not being developed despite existing organ rudiments (primordia). In this particular case, it describes the total absence of the fibula. Further, there is also the fibular hypoplasia, which represents an incomplete development of the fibula.

A good initial overview of fibula deficiencies is provide by the website of the Standbein e.V. (www.standbein-ev.com; only in German and Russian), which is the European Association for PFFD, Fibula and Tibia Defect. For convenience, I quote excerpts from the website’s description of fibula deficiencies:

“The fibula deficiency often occurs in conjunction with additional deformities of the hindfoot and/or fibular longitudinal defects of the foot (absence of toes). When the fibula is entirely or partly absent, the hindfoot will not be supported by the knuckles of the tibia and fibula. The foot “dangles” in and out (lateral luxation). The fibula deficiency always involves a reduced linear growth of the lower leg. Probably due to the strong tension of the fibular connective tissue (fibula strand), the disease often also involves an antecurvation (distortion) of the tibia. [...]

“The fibula longitudinal defect represents the most common congenital deformity of the long hollow bones. It occurs with 7.4 to 20 per 1 Million newborns. As yet, the cause is unknown. The gravity of the disease depends of the deficiency’s characteristics.

“In rare cases the fibula deficiency is also connected with an ulna deficiency at the forearm and is classified as FFU (femur fibula ulna) Syndrome.

“Irrespective of the deficiency’s severity, Kids with a fibula deficiency feature a more or less pronounced shortening of the affected leg. The knee is over-articulated. The tibia is often curved to the back towards the bone’s distal third with a dimple in the skin at the point of greatest angulation. The foot can be considerably modified in terms of form and position. Often one or more toes are missing.

“If both legs are affected, they usually feature only a marginal difference of length. However, the length of the lower extremities and the torso will be unproportional. Apart from the above mentioned deficiencies, the patients show good health and do not manifest other diseases. The mental development is unimpaired.”*

As this article is intended to focus on my personal experience with fibular aplasia and due to my lack of sufficient medical expertise, I kindly ask the reader to visit the website of Standbein e.V. or similar pages and forums to receive additional information and to find suitable contacts within the medical specialist fields for professional advice.

Options and methods of treatment

Physical disabilities such as fibular aplasia naturally are not “curable” and cannot be “remedied” or entirely “adjusted” by any special treatment. The above quoted description provides a rough idea of the complexity and possible scope of the clinical circumstances. The possible options and methods of treatment are equally diverse. The methods mentioned below represent only the most common treatments, which I was personally confronted with, for my particular type of fibula deficiency (Type 2 according to Coventry and Johnson [1952] as well as Achtermann and Kalamchi [1979]). The slightest variation in the deficiency’s characteristics may require an entirely different treatment or open up other options.

Amputation / Amputation of the forefoot

For instance, I was spared to be born with a stiff foot (often in a pes equinus position, in some cases fixed at a horizontal angle of 90° and/or twisted to the side [so-called Valgus deformity]). Among other, this is caused by the lateral pull of muscles and tendons due to the absence of the fibula or by the lack of the lateral malleolus. If the deformation cannot be corrected by surgical means, the foot may have to be amputated to allow for better prosthetic care. In the United States and other countries doctors often automatically amputate the leg below the knee, whether or not the foot is stiff, in order to provide the patient with uncomplicated off-the-shelf prostheses. However, this is a procedure that, in my eyes, is inconsiderate and that I don’t support. Moreover, I presume that it has fundamental social causes and motives, which to discuss here would go beyond the scope of this article. I was lucky that the length of my shortened right leg and my articulated foot, which could carry my weight to a certain extent, allowed me to walk barefoot by walking on my toes on the right side (This is particularly important, for example, when going to a swimming pool without having to use your prosthesis or crutches to get from the changing room to the pool).

My orthoprosthesis (N.B.: An orthoprosthesis equally supports/corrects and replaces missing and/or wrongly developed limbs) was built in that tiptoeing position, thus accommodating my body weight at the metatarsus (which is fully enclosed by the lower prosthetic socket), underneath the heel, as well as partly onto the half-round socket that sustains the tibia up until right beneath the knee. My first orthoprostheses featured the opening of the half-round socket on the front side (allowing me to slide into the orthoprosthesis more easily) and was attached to the leg with the help of three Velcro fasteners and leather pads across the tibia and ankle. Unfortunately, these tended to break under high strain, in particular when playing soccer (it is a very odd view for children when suddenly a “leg” flew through the air). Later this construction concept was inverted so that the closed part of the socket was in front and the fasteners were mounted towards the back.

In both cases it was very difficult to prevent pressure marks and to adapt an off-the-shelf prosthetic foot to the socket. Therefore, this complicated prosthetic care prompted my orthopaedic surgeon to repeatedly suggest to me to amputate my forefoot – a loss of 13 centimetres that are most important to me in my everyday life. It would have been pure madness to follow this advice in my particular situation and I’m very happy that my parents supported me in my decision (after all, I was only 13 to 18 years old during that time) and did not yield to the doctor’s pressure.

However, all this does not mean that an amputation for patients with a different form of fibular aplasia or with different personal needs would not be the right solution. As I was told, many have agreed to that solution and would do it again anytime.

Lengthening of the leg

Due to the reduced length of the affected leg(s), which can amount to 30 centimetres, a very common method of treatment is the lengthening of the tibia or tibiae. This is not medically necessary and conducive in every case. Not to mention the fact that girls with “lofty” model dreams in countries such as Russia voluntarily undergo this most painful procedure that may involve several surgeries (thus, representing a high risk for your health and very life)! However, it can help patients with fibular deficiencies to partly or entirely adjust the length of their legs. During my numerous hospital stays I repeatedly met children who carried wire and steel constructions (so-called fixators), piercing their leg’s flesh and bones at various points, to slowly stretch their legs inch by inch. This is done in a speed and time that will allow the bone to close and strengthen the artificially created gap, resulting in months and years of treatment. Up to nine centimetres are feasible, as my orthopaedic surgeon – an internationally well-respected specialist for fibular deficiencies – told me then. Yet, as my right leg featured a larger shortening I was also spared to experience this ordeal.

Axial correction

However, a fibula deficiency will never remain without any need of surgery. During the growth phase, which unfortunately lasted quite long in my particular case, my leg constantly grew into an x position (this does not have to be the case with all fibula deficiencies). In order to prevent an increase of inappropriate strain onto the joints and bones, and to allow for a healthy gait, I had to undergo a total of 13 surgeries between 1982 and 2005. Six of these surgeries were necessary for axial correction of the lower and upper leg. Further surgeries were required to correct the foot’s and ankle’s position as well as to remove fixing material one or two years after the axial correction. To carry out an axial correction the respective bone will be cut through (e.g. at the supracondylar region of the femur) and a wedge in the desired correction angle will be cut from the bone. Then, the bone will be put into the intended alignment (horizontally and vertically) and fixed by metal plates and screws, which have to be removed after a certain time.

Further possible implications

Beyond the treatment necessary during childhood and the growth phase, additional medical conditions may develop during advanced age – which is not yet the case for me, thus limiting my ability to report about it. These may in particular be related to high strain of both knee joints (especially in the case of absent anterior and/or posterior cruciate ligaments), poor posture (e.g. by assuming a discharging position when walking or due to an uneven gait caused by complicated prosthesis care), as well as by a deficiency or excessive strain of the hip joints and acetabular cups. Surgeries can hardly be avoided in these particular cases and may, at the utmost, be delayed by a healthy and prophylactic way of life.

Prevention and strengthening through sport

Sport represents a vital basis for patients with fibular aplasia to reduce and balance negative physical effects caused by the deficiency up to a certain extent, as well as to somewhat delay long-term impairments as described above. It is self-evident that not all sports are adequate. However, depending of the deficiency’s characteristics, only few sports are entirely impossible to exercise.

The top priorities should be a healthy strengthening of the leg muscles (to balance the effect of missing or extended cruciate ligaments, as the case may be) and the back muscles (to prevent back injuries by a suboptimal gait), a healthy body weight (to reduce strain on the joints), as well as to generally promote an overall health condition.

Naturally, in the case of a deficiency involving missing cruciate ligaments and a high strain of joints, sports which increase this strain are rather detrimental. As there are already enough people with a healthy locomotor system who are not doing their joints and feet any favour by adopting a bad style of running, patients with fibular aplasia should completely renounce to jogging. Sports with a high amount of stop-and-go movements and causing significant strain, such as soccer or tennis, should also be left out, as long as it is not limited to occasional games with friends allowing for enough rest and respecting the individual physical limits.

Fast walking and hiking promote your endurance and musculature just as well. This also applies to bicycle riding, which is a good balance, but which requires an optimal posture in order not to cause impairments of the hip and back (for instance, due to a shortened upper leg that may cause uneven movement while pedalling).

The ideal sport for patients with fibula aplasia is swimming as it is most joint-friendly, provides an effective strengthening of arm, torso and leg muscles, and significantly increases your endurance. In addition, it contributes to developing a healthy and positive sense of your body. Speaking from my own experience, I can say that excessive breast stroke should, however, be avoided or at least carried out under professional medical supervision. The involved external rotation of the knee joint leads to high strain and might cause damage to the cartilage. Other swimming techniques, such as the front crawl or the butterfly stroke cause much less strain of the knee joints while still sufficiently exercising leg muscles.

Moreover, every type of physical exercise should be carried out as long as it does not represent a risk to your health or could cause long-term damages. Especially children should not be limited in their natural gaming and exploration impulse. A child with a positive sense of its body will quickly develop a healthy posture and self-assessment of its own limits. My parents have always encouraged me to try everything that was physically possible to me: from climbing on trees and climbing scaffolds to swimming, horse riding, bicycle riding, hiking and mountaineering – and I regularly played on the football grounds with my friends. However, all activities that go beyond this level and involve regular training or high strain should first be discussed with the attending physician.

(As soon as completed, part 2 of this article will provide additional insights into a life with fibular aplasia and its consequences.)


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* This translation was made by myself and does not represent an official translation by the operator of the original source. As I don’t have sufficient knowledge of medical terminology, I cannot guarantee for the accuracy of the translation.