P A Clark, K Ramireddy, M Koneru, S Lipshutz, S McDermott, G Rivera-Colon, D DeStasio
achondroplasia, assent, dwarf pride, quality of life
P A Clark, K Ramireddy, M Koneru, S Lipshutz, S McDermott, G Rivera-Colon, D DeStasio. Achondroplasia: To Treat or Not to Treat. The Internet Journal of Internal Medicine. 2021 Volume 14 Number 1.
Achondroplastic dwarfism makes up a majority of the incidences of dwarfism worldwide and, currently, has no specifically designed pharmaceutical-based treatment. Vosoritide is an experimental medication produced by the American drug company, BioMarin, that is currently in the FDA and European drug approval processes and is looking to become the first prescription drug specifically designed for the treatment of achondroplastic dwarfism. Although limb-lengthening surgeries and human growth hormone therapy are both utilized today in the treatment of achondroplasia, vosoritide looks to become a cheaper, less painful, and more effective alternative. This article looks at the issue of treatment of achondroplasia with a vosoritide drug regimen and its medical, social, and ethical implications. Medically, vosoritide functions via activating the downstream signaling cascade of the FGFR3 receptor inhibited by a point mutation on the fourth chromosome that results in the manifestation of achondroplasia. In its latest trial, a significant recovery of bone growth, along with minimal incidence of adverse side effects, in achondroplastic patients was reported. Socially, the dwarf community views the idea of treatment for dwarfism to be unnecessary as they see their condition as simply a differential of the human experience, and not one that necessitates medical treatment. Little People of America neither endorses or condemns vosoritide and other medical treatments for dwarfism, rather it promotes the idea that the individual should make the best decision for themselves and for their family. Ethically, this issue must be analyzed through the principles of respect for persons, beneficence/nonmaleficence, and justice. All three of these principles, along with assent and informed consent, may be utilized in order to defend the right of children with achondroplasia to have access to vosoritide, so that they may go through treatment if they see fit. Therefore, through the analysis of all the medical, social, and ethical factors, it is viable to treat achondroplasia with a vosoritide drug regimen.
Achondroplastic dwarfism is a form of skeletal dysplasia that accounts for about 70% of all cases of dwarfism and affects about one in every 25,000 births worldwide.1, 10 While people who have this condition have normally sized heads and torsos, the bones of their arms and legs are significantly shorter than a person without the condition. This condition is caused by a genetic mutation to the fibroblast growth factor 3 receptor protein (FGFR3), which can either spontaneously occur or be inherited. Although achondroplasia is inherited via an autosomal dominant allele, about 80% of all people with achondroplastic dwarfism have no family history of the condition.1 The mutation to FGFR3 protein results in short stature and other conditions caused by improper bone growth and development due to the inhibition of bone cell maturation. Common complications include: irregular spinal curvatures, sleep apnea, bowed legs, and reoccurring ear infections. More uncommon, but more serious, conditions that can result from achondroplasia are hydrocephalus and craniocervical junction compression.2 These serious complications can lead to neurological issues and shorter life expectancy.
In 2020, a pharmaceutical company, BioMarin, started trials for a new drug, vosoritide. Delivered via subcutaneous injection, vosoritide mimics naturally produced peptides which stimulate the ossification of cartilage.3 In a phase III trial conducted at Lundquist Institute for Biomedical Innovation at the Harbor-UCLA Medical Center, it was found that after a 52-week long regiment vosoritide was able to increase a person’s growth velocity by 1.57 cm/year. If approved, this would make vosoritide the first approved pharmacological therapy for the treatment of achondroplastic dwarfism. In regards to pharmacological treatment, currently, the only pharmacological therapy being used is human growth hormone (HGH), which has been used in the treatment of achondroplastic dwarfism in Japan, although results have been very limited.4 Traditionally, the only widely accepted treatment for achondroplastic dwarfism is a series of limb lengthening surgeries. In the case of achondroplastic dwarfism, limb lengthening surgeries can be done on the humerus, tibia, and the fibula. The procedures necessary for bilateral tibia and fibula lengthening costs an estimated $100,000 and is viewed as an elective procedure by health insurance companies, therefore, most all costs are out of pocket for the patient.5 While there are medical risks, the main drawbacks of the surgeries are the financial cost of the procedures, the painfulness of the procedure and recovery process, and the timetable required for proper healing and recovery. The combination of both the out-of-pocket expenses while also having to take an extended time out of work for recovery makes the option of surgery exclusive to only those with greater financial freedom.
In 2006, Little People of America issued an official statement in which they created a complete list of all the possible benefits and drawbacks of limb lengthening surgery. Instead of either condemning or promoting the surgery, they wanted to make sure that those considering the series of procedures to add to their height were properly informed. Most people’s motivations to pursue the surgery included: “fitting in” socially, avoiding discrimination in the workplace, and having a greater degree of independence.6 While common medical complications to the surgery include early onset arthritis, axial malalignment, and infections along the pin track of the brace the patient wears after the series of operations.7 In addition to the multiple different physical detractors from limb lengthening surgery, many people decide against the surgery for its social drawbacks within the dwarf community. The dwarf community has a relatively positive common attitude towards their condition. These respective communities see their condition of dwarfism not as an impairment or detriment, but as a differential factor to their personal experience. Instead of being an inherent negative, the dwarf community views the condition of dwarfism as simply something that adds to their individuality as people.8 Some people who opt not to undergo limb lengthening surgeries or a trial of vosoritide say that these operations and clinical trials send the message to the dwarf community that they are “broken people”, although one can live a fairly independent life with achondroplasia with some relatively minor accommodations.
Achondroplastic dwarfism is caused by a genetic mutation to the FGFR3 protein in the body. Many complications can arise from this condition such as: spinal stenosis, lordosis, kyphosis, sleep apnea, bowed legs, and recurrent ear infections. Some complications are less common but more serious, such as hydrocephalus and craniocervical junction compression. Vositoridide is an experimental drug used by BioMarin that showed an increase in a person’s growth velocity by 1.57 cm/year after a trial lasting 52 weeks from Harbor-UCLA Medical Center. This drug is being talked about by the Dwarf community specifically, and it becomes an ethical issue when some individuals that are a part of the dwarf community are questioning why they need to be changed from a drug, and that their uniqueness adds to their individuality as human beings. However, the only other possibility for bone growth is through limb lengthening surgery, a very painful procedure with a variety of dangerous complications. BioMarin is targeting a release date in the United States of late August 2021, and in Europe they expect an opinion from the Committee for Medicinal Products for Human Use (CHMP) in the latter half of 2021, as well.9 In the following section a case study will be described, showing the opposing sides of the drug and how it interferes with the individuality and pride of those who have achondroplasia dwarfism.
Mr. and Mrs. Smith have a 11-year-old daughter named Sarah that has achondroplastic dwarfism. Because of Sarah’s condition, she has shorter bones than someone without achondroplasia. Both of Sarah’s parents also have achondroplastic dwarfism, and are very proud of their condition. Sarah, on the other hand, struggles with accepting her condition as she gets made fun of in school and feels left out in many social situations. Sarah is tired of feeling like the odd one out, and no longer wants to deal with her condition. Sarah, one day while researching her condition, came across vosoritide. Vosoritide is an experimental drug that was shown to increase bone growth in children with achondroplasia. Not only has vosoritide shown positive effects regarding bone growth, it has also shown a better quality of life for those who have received this drug. Sarah tries to explain this drug to her parents and they continuously disagree, and are completely against it claiming that she does not need any medication to “fix her.” Should vosoritide be used to increase growth in children with achondroplasia without their parent’s consent? Or are we sending the wrong message to the dwarf community thinking that their condition is something that needs to be changed or modified to meet up with society’s standards of “normal”?
Dwarfism is defined as an adult height of less than 147 cm (4 feet 10 inches). With a prevalence of approximately one in 25,000 live births, achondroplasia is the leading cause of dwarfism in humans, accounting for almost 70% of cases.10 While the majority of cases of achondroplasia are sporadic and occur in families with no history of it, a man or a woman with achondroplasia has a 50% chance of passing on the mutation to their children (autosomal dominant inheritance).11
Achondroplasia is caused by a point mutation (Gly380Ar) in the gene coding for fibroblast growth factor receptor 3 (FGFR3) located on the fourth chromosome.12 This gain-in-function mutation results in production of a faulty transmembrane domain of FGFR3 which, upon ligand binding, undergoes prolonged activation and in turn activates downstream intracellular signaling molecules Raf/MEK/ERK and Stat1.13 Chondrocyte proliferation and differentiation, and ultimately endochondral ossification is impaired by this constant activation leading to poor growth of long bones and short-limb dwarfism.14
Clinical manifestations of achondroplasia include disproportionate short stature of -3 standard deviations (SD) below average with rhizomelic shortening of extremities and trident hands. The characteristic facial features include relatively large cranium, protruding forehead and mandible with a flattened nasal bridge and central facial hypoplasia. While kyphoscoliosis may be seen during infancy, children with achondroplasia develop lumbar lordosis once they start ambulation. Even though intellect is not affected, significant motor delays to acquire standing position and walking are present which can be attributed to muscle hypotonia and ligamentous laxity.15 Life expectancy is close to the general population but a high prevalence of medical complications including foramen magnum stenosis, hydrocephalus, early obesity, sleep apnea, recurrent ear infections and impaired hearing has been reported.16
A survey conducted in 2017 among members (>18 years) of Little People of America reported that adults with short stature skeletal dysplasias have lower health-related quality of life.17 Despite changes in clinical management mortality in people with achondroplasia still remains higher than in the general population with cerebrovascular, cardiovascular complications, and accidents contributing to a majority of the deaths.18 Neurological complications include stenosis of foramen magnum resulting in hydrocephalus, respiratory difficulty with excessive snoring or apnea, difficulty swallowing, hyperreflexia, hypotonia along with lower cranial nerve dysfunction.19 A literature review suggests that around 6.8%–28% of children with achondroplasia will go on to require cervicomedullary decompression by the age of 4 years due to these complications. Lumbar spinal stenosis with associated neurological symptoms is also present in a significant proportion of children and adults.20 Before the age of 2 years 90% of children experience otitis media and nearly half of them require placement of tympanostomy tubes. This may result in conductive hearing loss which in turn may impair speech development and cause disabilities in communication and learning.21 People with achondroplasia also have a higher incidence of obesity compared to average-height adults.22
The diagnosis of achondroplasia is mainly based upon presence of above-mentioned clinical manifestations with supporting radiographic skeletal survey results showing characteristic shortening of the long bones with metaphyseal abnormalities and trident deformity in hands. Other useful radiographic findings include progressive decrease in the interpedicular distances of the vertebral bodies, narrowing of sciatic notch, iliac wing hypoplasia, basicranial shortening with facial bone hypoplasia.14 Diagnosis can also be confirmed with genetic testing for mutations in the FGFR 3 gene.
There are no effective therapies for achondroplasia and the current management mainly focuses on maximizing functional capacity and preventing and treating complications. Previously, limb lengthening surgeries were performed, which had significant financial and social costs along with high rates of complications. Due to emerging surgical techniques these surgeries are resurging, but they remain controversial and opposed by most patient support groups.
Many novel strategies are currently being investigated for the management of achondroplasia which target the faulty FGFR3 receptor, its ligands or the various downstream intracellular signaling molecules. Agents which showed promising results in preclinical studies include Fibroblast growth factor 2 (FGF2) aptamer (APT-F2P/RBM 007)- a single-stranded nucleic acid molecule that binds to FGF2 and blocks it from activating FGFR3 22, soluble FGFR3 decoy (TA-46/recifercept)- binds to Fibroblast growth factor (FGF) and prevents it from binding to defective FGFR3 23, Vofatamab (B-701)- anti-FGFR3 monoclonal antibody which specifically targets FGFR3 24, Infigratinib (BGJ398)- a tyrosine kinase inhibitor that blocks FGFR3 and its downstream signaling pathway25, and Meclozine/Meclizine- an antihistamine used for motion sickness that blocks FGFR3 downstream signaling by downregulating phosphorylation of ERK.26
More advanced strategies include use of C-Type Natriuretic Peptide (CNP) analogue Vosoritide (developed by BioMarin) which acts on its receptor, natriuretic peptide receptor B (NPR-B), and antagonizes mutant FGFR3 downstream signaling by inhibiting MAPK pathway.27 This theoretically can result in a significant recovery of bone growth. In 2019, the results of its phase II dose-finding study were published in which 35 children with achondroplasia were divided into 4 different cohorts and were given increasing doses of this drug. They reported a dose-dependent increase in the annualized growth velocity during the first 6 months of treatment up to a dose of 15.0 μg per kilogram. 10 children received a dose of 15 μg per kilogram dose daily and their growth velocity improved from a mean of 4.04 cm per year to 6.06 cm per year at the end of the first 6 months. With doses of 15.0 and 30.0 μg per kilogram a sustained increase in the annualized growth velocity was observed for up to 42 months.28 All the children who received the medication (100%) experienced adverse events with injection site reaction, erythema, and fever being the most common ones. While the majority of the children experienced only mild to moderate symptoms, 4 of 35 (11%) experienced serious adverse events and therapy had to be discontinued in 1 because of the adverse event. Therapy was also discontinued in 5 other children for unclear reasons.
To further assess the preliminary findings of the phase II trial, a phase III double-blind multicenter trial was conducted, and its results were recently published in September 2020. In this trial, 121 children aged 5 to less than 18 years at enrollment were randomly assigned to receive either Vosoritide 15.0 μg/kg daily subcutaneously or placebo for a total period of 52 weeks. They reported that children who received Vosoritide daily had an annualized growth velocity of 1.57 cm/year more than the placebo group. 98% children of both groups had at least one adverse event. They reported that none of the serious adverse events were related to the treatment and that there were no deaths.29 These trials show promising results, however, at this point we do not know if Vosoritide affects body segment proportionality, final adult height, or complications associated with achondroplasia.
Since the release of the BioMarin’s experimental drug, vosoritide, conversations have begun within the dwarf community, stating that being a little person is a part of who they are and should be celebrated, not a problem that needs to be solved through medicine. People within the achondroplasia community are torn between the positive health effects that could come from the administration of vosoritide and the message being sent to their children that they need to change. On one end of the spectrum, families see the treatment as an opportunity for their children to reach milestones such as being able to ride a rollercoaster with a height requirement or being able to see themselves as “normal” around their peers. The other side of the coin, the “dwarf pride” community, is hard set in their beliefs that treatments and elective procedures which directly address the height of a human set forth a negative message to other little people within the community. In a New York Times article, Dr. Simone Watkins, the mother of Lachlan who has been diagnosed with achondroplasia, wants him to live the best life possible, regardless of his condition. Dr. Watkins states, “I don’t want to give him the wrong message”, a message that could come across negatively if she gives Lachlan vosoritide.30 At the same time, Dr. Watkins understands that with the once daily injection of vosoritide, not only will Lachlan’s height increase, but also his overall quality of life could increase as well.
Megan Schimmel, a proponent of the “dwarf pride” movement believes that her diagnosis of achondroplasia provides her with strength and compassion. Schimmel also has a 2 year-old daughter that has been diagnosed with achondroplasia, and Schimmel does not plan on giving her child any treatment, surgical or drug-related, to advance her growth. Sharing similar sentiments with many families who belong to the “dwarf pride” community, Schimmel believes that vosoritide’s underlying message is that little people with achondroplasia are broken.
A strong critic of the “dwarf pride” movement is Chandler Crews, a 27 year-old female, who underwent multiple surgeries beginning at 16 years old to elongate her limbs. The marathon of surgeries that Crews endured brought her from 3 feet and 10 inches tall at 16 years old to just under 5 feet tall at 26 years old, but due to the pain resulting from the surgeries Crews was forced to use prescription opioids as a form of relief. Crews believes the limb lengthening surgeries that she underwent were, “the best decision she has ever made”.31 A major drawback of the limb lengthening procedure available to the achondroplasia community is that it is purely cosmetic, and does not address the several other secondary effects that come with achondroplasia.
Vosoritide has drawn many comparisons to the ethical and social controversies that came with the introduction of cochlear implants within the deaf community. Mark Povinelli, President of Little People of America (LPA), has said that the organization has not made any endorsements regarding either the surgical limb lengthening treatment or BioMarin’s experimental drug vosoritide. A statement by LPA in response to the announcement of BioMarin’s phase 2 results on vosoritide stated, “While we encourage individuals and families to make the decision that is best for them, we stress that emerging treatments are not necessary for people with dwarfism to live engaging, healthy, productive lives.”32 Although this statement does not make a stand against experimental drugs targeted for little people, it does make a strong stand in support of the “dwarf pride” community and that any experimental drugs are merely optional to those with achondroplasia and other forms of dwarfism.
The issue of treatment therapies for Achondroplasia has raised serious concerns among some in the dwarf community. With the new drug therapy vosoritide in Phase III studies, many parents of children with Achondroplasia and ethicists have called for a public debate on the issue of vosoritide that would examine all aspects of it including the ethical and moral implications. The main medical issue seems to be, if approved, does vosoritide offer a viable option to the two approved therapies: Human Growth Hormone therapy and limb-lengthening surgeries. The advantages of using vosoritide is that it can theoretically result in significant recovery of bone growth as shown in the medical section above. It would eliminate the need for extensive and expensive surgeries and appears to be safer and more efficacious. Proponents argue that to date those children who received vosoritide had an annualized growth velocity of 1.57 cm/year with few side effects. Opponents argue that there were adverse side effects in the clinical trials but none to date seem to be related to the treatment and there have been no deaths. Other critics worry about the potential for negative side effects that did not appear in phases I-II or III of the clinical trials. Another issue in the debate on the use of vosoritide is more personal and comes from among those in the dwarf community. Proponents argue that any of these therapies offer their children very positive health and social effects that allow them to live a better quality of life in a world that is not always sensitive to their physical and social needs. Opponents within the dwarf community argue vosoritide and the other two therapies send a very strong message that people with Achondroplasia are failing to live healthy and productive lives in the community.
This is very problematic because it seems to negate the “dwarf pride” that has become the cornerstone of the dwarf community. If we are going to examine this issue ethically, then there must be an open debate with all parties participating, and all options must be placed on the table, including the option that vosoritide, if approved, should be a viable option offered to children with Achondroplasia. To determine if this procedure is ethical, the principles of respect for persons, beneficence, nonmaleficence and justice will be applied to this proposed drug therapy and its consequences.
Respect for persons
This principle incorporates two ethical convictions: first, that persons should be treated as autonomous agents; and second, that persons with diminished autonomy are entitled to protection. The principle of respect for persons thus divides into two separate moral requirements: the requirement to acknowledge autonomy and the requirement to protect those with diminished autonomy.33 Respect for human persons refers to the right of a person to exercise self-determination and to be treated with dignity and respect. All people deserve autonomy and to be treated with dignity and respect. Failure to provide any person with adequate health care, which includes the possibility of correcting skeletal dysplasia, violates this basic right of respect for persons. Proper education about various options open to children to address the FGFR3 mutation, including costs, side-effects and success rates, will respect the rights of all people.
Second, as an autonomous agent an individual has the right of informed consent. Patients and in the case of minors, their proxies, have the right to know all information about their diagnosis, prognosis, treatment and care plan of a particular treatment, therapy or surgery. The elements of informed consent include:
- A fair explanation of the procedures to be followed, including an identification of those which are experimental;
- A description of the attendant discomforts and risks;
- A description of the benefits to be expected;
- A disclosure of appropriate alternative procedures that would be advantageous for the subjects;
- A offer to answer any inquiries concerning the procedures;
- An instruction that the subject is free to discontinue participation in the project or activity at any time.34
In a specific sense, physicians and researchers who want to offer vosoritide, if approved by the FDA, have an ethical obligation to give an objective, non-biased assessment of all materially relevant information pertaining to the success of the Phase I, II and III trials as well as any animal trials. This information includes risks/benefits, alternatives and consequences, the rates of rejection, the proposed costs of the drug, and potential side-effects of the drug on the patient. This information must be explained carefully and at a level that a reasonable prudent person can understand. The physicians and researchers are also responsible to verify, to the best of their ability, that the parents are not engaging in “selective hearing.” Under the circumstances, it is not uncommon for parents to engage in “selective hearing,” that is, taking in all information about potential benefits and filtering out all information about potential risks. Parents need to have information that a prudent reasonable person would require to make well-reasoned decisions that will protect the best interests of their child.
Third, children are minors, but in the field of pediatrics, physicians and bioethicists believe that children have the right of assent in regards to medical treatments and procedures. This would apply to children considering vosoritide. Assent is when an individual who lacks decisional capacity, or decisional authority, agrees to go along with a proposed medical intervention for him or herself. It should include the following four elements: First, helping the child achieve a developmentally appropriate awareness of the nature of his or her condition. Second, telling the child what he or she can expect with tests and treatments. Third, making a clinical assessment of the child’s understanding of the situation and the factors influencing how he or she is responding (i.e., voluntariness). Fourth, soliciting an expression of the child’s willingness to accept the proposed treatment or procedure. Regarding this final point, we note that no one should solicit a patient's views without intending to weigh them seriously. In situations in which the patient will have to receive medical care despite his or her objection, the patient should be told that fact and should not be deceived.35 The problem is that many pediatricians are not prepared to discuss the issue of viable options like vosoritide with minors whose parents object to these therapies. Many pediatricians are hesitant to intervene between child and parent. The focus for these pediatricians must be on what is in the best interest of their patient. The child is their immediate patient. Therapies like vosoritide, human growth hormones and limb-lengthening surgeries can assist these children in having better quality of life benefits. Children have to understand that these therapies are an option and those who chose not to try them can live a very fulfilling life. Minors who request vosoritide from their pediatricians should be given the right of assent. The American Medical Association supports this notion of assent and is supporting state bills that will allow minors to ask for such therapies against the wishes of their parents.36 Assent is a basic guideline within the principle of respect for persons, because children do have diminished autonomy.
Medical advances are necessary for society, and experimental therapies are important tools to bring about these advances. But these advances can never be at the expense of denying individuals their basic dignity and respect. If patients are made aware and comprehend the success data, short-term and long-term risks and benefits, alternatives and possible consequences and if safeguards are put in place to avoid the potential for coercion, then informed consent and informed assent can be obtained ethically for the use of vosoritide.
Beneficence involves the obligation to prevent and remove harm and to promote the good of the person by minimizing the possible harms or risks and maximizing the potential benefits. Beneficence includes nonmaleficence, which prohibits the infliction of harm, injury, or death upon others. In medical ethics, this principle has been closely associated with the maxim: Primum non nocere, “Above all do no harm”.
Intentionally, to refuse to give a child all viable options for a genetic disorder that disrupts the transition of cartilage to bone because the parents believes a child with Achondroplasia can have a very fulfilling life without fixating on height is not minimizing risks and harms nor promoting or enhancing the good. The parents would argue that “the good” in this situation is that the child with Achondroplasia will be fully incorporated into the family and the Dwarf community. If the child does utilize vosoritide, the child will always be an outsider and this could cause harm to the child, the family and the Dwarf community. Parents have the legal and moral right to do what is in the best interests of their child. The direct intention of denying a child with the genetic mutation, Gly380AR in the gene coding for fibroblast growth factor receptor 3 (FGFR3) located on the fourth chromosome, that will impact the child’s entire life with no assent from the child is a direct infliction of harm and injury on this child. Failure to recognize this fact is a failure not only of the test of beneficence; it may also be a failure of the test of nonmaleficence.
This is an experimental, non-life saving drug therapy, which utilizes a synthetic form of a protein naturally that targets the overactive signal that prevents bone growth in children,37 with possible risks but it is also a drug therapy with potentially substantial benefits. Arguably, it appears that this drug therapy does not fail the test of beneficence or the test of nonmaleficence. No one will dispute that balancing the benefits and risks is difficult. Some will continue to argue that the risks outweigh the benefits. However, if these parents truly have informed consent and the children have informed assent and understand the risk/benefits, alternatives and consequences of vosoritide when approved by the Food and Drug Administration hopefully in a matter of months, then they have the right to agree to this experimental procedure. For many children with dwarfism, their desire to increase their quality of life clearly outweighs the possible medical risks to them.
The principle of justice recognizes that each person should be treated fairly and equitably, and be given his or her due. The issue of experimental vosoritide also focuses on distributive justice: the fair, equitable, and appropriate distribution of medical resources in society. At a time when reforming healthcare in this country has become a high priority, failure to initiate preventative measures and clinical research that would save medical resources and promote better quality of lives in the long-run violates the principle of distributive justice.
Parents of a child with Achondroplasia who are proponents of vosoritide will argue that they have the right to treat their child with this drug, because the potential quality-of-life benefits will give their child the advantages other children have in society. They would argue that this is just and that children with Achondroplasia must be given their due. Opponents would argue that intentionally changing a child with an investigational drug sends the wrong message to the child and society as a whole. Critics will argue the use of vosoritide sends a clear message that my child is “defective” and needs to be “fixed.” Instead of advocating for diversity in society and showing that children with dwarfism live very fulfilling and enriching lives, the opposite message is sent. The message is that children with dwarfism need to adapt to the norms of society and the fixation on height is an important societal issue. All Americans have the right to be treated fairly and equitably. Parents and children with Achondroplasia have the right to weigh the advantages and disadvantages of vosoritide so that as members of society they are treated justly.
Resource allocation will also play a major role in the use of vosoritide, because it is presumed that it will be very costly. Children born with Achondroplasia are going to need medical, social and educational resources for the rest of their life. These resources will be provided by the state and federal government and the costs will be shared by members of society as a whole. Americans espouse the belief that all men and women are created equal. Equality has also been a basic principle of the medical profession. If we truly believe in equality, we should insist that all men, women and children receive equal medical treatment and resources. Vosoritide will be costly, but it provides a viable and safer option to the limb-lengthening surgeries that many children undertake today. Denying medical treatment to children in the form of corrective therapy because of cost factors not only places children’s lives in danger but is an unjust allocation of resources and violates a basic tenet of justice. Pediatricians, clinical researchers, the medical profession and the appropriate government agencies have an ethical obligation to use available resources fairly and to distribute them equitably. Failure to do so is ethically irresponsible and morally objectionable. To compromise the basic ethical foundations upon which medicine stands is destructive not just to children but to society as a whole. One can argue that this is a fair and equitable use of medical resources and thus meets the test of the principle of justice.
At the present time, if vosoritide is shown to be an effective way of treating children with Achondroplasia and the risk-benefit ratio are reasonable, and safeguards are put in place to assure parents have informed consent and the children have informed assent, then physicians and researchers have an ethical obligation to perfect the safety and efficacy of this therapy as a matter of justice.
The issue of achondroplastic dwarfism and its treatment options is a complex issue from each of the medical, sociological, and ethical perspectives. Vosoritide shows great promise in being both a economical and medically responsible choice for those seeking to treat their achondroplastic dwarfism. Medically, it can be shown to have a much lower risk of complication with a much higher chance at success than other previously available treatment options. While also being a less painful procedure and less costly, vosoritide could also equally increase a person’s quality of life respective to limb-lengthening surgeries. Sociologically, the dwarf community has fought a long battle for both their acceptance within society and, as a result, much of the dwarf community sees their condition, not as a weakness, but as a point of pride and something that gives their life experience a differential and more empathetic lens. Therefore, people that live with dwarfism may see the opportunity to more easily reverse the most common form of their condition as a threat to the base of their community. Ethically, through the principles of respect for persons, beneficence/nonmaleficence, and justice, it can be shown that proper education about the options for treatment, including both the likely risks and benefits to their quality of life, should be made available. After our analysis through these various lenses, it is our opinion that vosoritide is a viable option for the treatment of achondroplastic dwarfism and making it an available resource is in the best interest of all achondroplastic individuals.